PMID: 23555315

Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

PLoS genetics
CA Haiman, Y Han, Y Feng, L Xia, C Hsu, X Sheng, LC Pooler, Y Patel, LN Kolonel, E Carter, K Park, L Le Marchand, D Van Den Berg, BE Henderson, DO Stram
2013-03

2867 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-32170009-C-T NOTCH4 c.3599G>A p.Gly1200Glu Missense 21/30 -
13-32972420-A-G BRCA2 c.9770A>G p.Lys3257Arg Missense 27/27 -
12-115112554-A-T TBX3 c.1126T>A p.Ser376Thr Missense 6/7 -
2-172841111-A-G HAT1 c.839A>G p.Lys280Arg Missense 9/11 -
1-182550360-C-T RNASEL c.1905G>A p.Lys635Lys Synonymous 5/7 -
2-218686643-T-A TNS1 c.3080A>T p.Glu1027Val Missense 23/33 -
13-102220193-G-T ITGBL1 c.460G>T p.Ala154Ser Missense 3/11 -
4-70505162-G-A UGT2A2 c.197C>T p.Ala66Val Missense 1/6 -
13-32912750-G-T BRCA2 c.4258G>T p.Asp1420Tyr Missense 11/27 -
3-63645410-A-G SNTN c.155A>G p.Lys52Arg Missense 3/4 -
5-1814523-C-T NDUFS6 c.257C>T p.Ala86Val Missense 3/4 -
5-1814523-C-G NDUFS6 c.257C>G p.Ala86Gly Missense 3/4 -
14-24877699-A-G NYNRIN c.823A>G p.Ser275Gly Missense 3/9 -
17-47299454-C-T ABI3 c.804C>T p.Asp268Asp Synonymous 7/8 -
2-196825573-G-A DNAH7 c.2302C>T p.Arg768Cys Missense 18/65 -
1-10511596-C-A CORT c.262C>A p.Arg88Arg Synonymous 2/2 -
5-131930642-C-T RAD50 c.1875C>T p.Tyr625Tyr Synonymous 12/25 -
14-101348572-C-T RTL1 c.2554G>A p.Ala852Thr Missense 1/1 -
10-129901717-G-A MKI67 c.8387C>T p.Ala2796Val Missense 13/15 -
14-36783738-T-C MBIP c.551A>G p.Asn184Ser Missense 4/9 -
8-23082543-C-A TNFRSF10A c.32G>T p.Gly11Val Missense 1/10 -
8-23082543-C-T TNFRSF10A c.32G>A p.Gly11Asp Missense 1/10 -
19-6147676-C-A ACSBG2 c.287C>A p.Ser96Tyr Missense 3/15 -
18-77133945-G-A ATP9B c.3118G>A p.Val1040Ile Missense 28/30 -
3-113084989-C-T CFAP44 c.2612G>A p.Arg871His Missense 19/21 -
14-93685577-G-A UBR7 c.830G>A p.Ser277Asn Missense 8/11 -
13-32910403-T-G BRCA2 c.1911T>G p.Gly637Gly Synonymous 11/27 -
22-40366924-C-T GRAP2 c.829C>T p.Arg277Trp Missense 8/8 -
8-16012594-G-A MSR1 c.877C>T p.Arg293* Nonsense 6/9 -
2-70187809-G-A ASPRV1 c.1012C>T p.Arg338Trp Missense 1/1 -
2-70187809-G-T ASPRV1 c.1012C>A p.Arg338Arg Synonymous 1/1 -
2-242610773-T-A ATG4B c.1061T>A p.Leu354Gln Missense 12/13 -
10-67894481-G-A CTNNA3 c.1885-31474C>T - IntronicSNV - 13/17
X-23928535-C-T CXorf58 c.116C>T p.Ser39Leu Missense 2/9 -
1-154516983-G-A TDRD10 c.787G>A p.Ala263Thr Missense 10/13 -
6-18139201-G-A TPMT c.487C>T p.Arg163Cys Missense 6/9 -
6-18139201-G-T TPMT c.487C>A p.Arg163Ser Missense 6/9 -
17-58235051-A-T CA4 c.415A>T p.Met139Leu Missense 5/8 -
19-18679436-G-A KXD1 c.526G>A p.Glu176Lys Missense 5/5 -
20-44237357-G-T WFDC9 c.184C>A p.Arg62Ser Missense 4/5 -
12-12815037-C-A GPR19 c.346G>T p.Val116Phe Missense 4/4 -
16-23652456-G-A PALB2 c.23C>T p.Pro8Leu Missense 1/13 -
13-32911295-G-A BRCA2 c.2803G>A p.Asp935Asn Missense 11/27 -
12-53044156-T-C KRT2 c.767A>G p.Asn256Ser Missense 2/9 -
3-102157365-A-G ZPLD1 c.82A>G p.Ile28Val Missense 2/11 -
3-102157365-A-T ZPLD1 c.82A>T p.Ile28Phe Missense 2/11 -
10-104173673-C-G PSD c.1406G>C p.Gly469Ala Missense 6/18 -
10-104173673-C-A PSD c.1406G>T p.Gly469Val Missense 6/18 -
10-91066075-A-G IFIT2 c.362A>G p.Lys121Arg Missense 2/2 -
8-39468128-A-C ADAM18 c.425A>C p.Gln142Pro Missense 6/20 -
1-204518457-A-C MDM4 c.1120A>C p.Lys374Gln Missense 11/11 -
11-74168361-C-T KCNE3 c.248G>A p.Arg83His Missense 3/3 -
5-176637576-T-C NSD1 c.1369T>C p.Ser457Pro Missense 6/24 -
7-69806023-T-A AUTS2 c.661-94715T>A - IntronicSNV - 4/17
21-46032087-G-A TSPEAR c.83-44198C>T - IntronicSNV - 1/11
7-143772205-G-A OR2A25 c.893G>A p.Gly298Asp Missense 1/1 -
9-124080744-C-A GSN c.1100C>A p.Thr367Asn Missense 8/17 -
9-124080744-C-T GSN c.1100C>T p.Thr367Ile Missense 8/17 -
12-51457921-T-C CSRNP2 c.1240A>G p.Ser414Gly Missense 5/5 -
5-38527308-G-A LIFR c.346C>T p.His116Tyr Missense 4/20 -
19-11546603-G-A PRKCSH c.1-336G>A - IntronicSNV 1/18 -
3-157081214-C-T VEPH1 c.1674G>A p.Val558Val Synonymous 9/14 -
4-95155148-A-G SMARCAD1 c.412A>G p.Met138Val Missense 4/24 -
3-52409393-A-C DNAH1 c.7123A>C p.Lys2375Gln Missense 45/78 -
14-65053999-T-C PPP1R36 c.799T>C p.Phe267Leu Missense 10/12 -
19-55527081-C-T GP6 c.745G>A p.Ala249Thr Missense 7/8 -
17-41243840-A-G BRCA1 c.3708T>C p.Asn1236Asn Synonymous 10/23 -
17-41243840-A-C BRCA1 c.3708T>G p.Asn1236Lys Missense 10/23 -
17-41245180-T-C BRCA1 c.2368A>G p.Thr790Ala Missense 10/23 -
5-159686503-G-A CCNJL c.700C>T p.His234Tyr Missense 5/7 -
13-32914260-A-C BRCA2 c.5768A>C p.Asp1923Ala Missense 11/27 -
13-32914260-A-T BRCA2 c.5768A>T p.Asp1923Val Missense 11/27 -
8-16012590-C-T MSR1 c.881G>A p.Gly294Glu Missense 6/9 -
1-111854895-G-A CHIA c.-61+555G>A - intron_variant - 3/9
22-40750289-A-T ADSL c.440A>T p.Lys147Met Missense 4/13 -
19-46733560-T-G IGFL1 c.109T>G p.Cys37Gly Missense 3/4 -
13-32930687-C-T BRCA2 c.7558C>T p.Arg2520* Nonsense 15/27 -
20-210061-G-A DEFB129 c.201G>A p.Leu67Leu Synonymous 2/2 -
2-242794902-C-T PDCD1 c.307G>A p.Gly103Arg Missense 2/5 -
11-1769085-G-A IFITM10 c.349C>T p.Arg117Trp Missense 2/3 -
4-169343044-A-G DDX60L c.2261T>C p.Val754Ala Missense 17/38 -
4-169343044-A-C DDX60L c.2261T>G p.Val754Gly Missense 17/38 -
2-9630538-G-A ADAM17 c.2243C>T p.Ala748Val Missense 19/19 -
16-347063-C-T AXIN1 c.1948G>A p.Gly650Ser Missense 7/11 -
15-59009800-C-T ADAM10 c.182G>A p.Arg61His Missense 2/16 -
16-347063-C-A AXIN1 c.1948G>T p.Gly650Cys Missense 7/11 -
13-32907359-A-G BRCA2 c.1744A>G p.Thr582Ala Missense 10/27 -
13-32907359-A-C BRCA2 c.1744A>C p.Thr582Pro Missense 10/27 -
22-43089464-C-T A4GALT c.494G>A p.Arg165His Missense 3/3 -
17-8383838-G-A MYH10 c.5270C>T p.Ala1757Val Missense 39/43 -
13-32914904-G-T BRCA2 c.6412G>T p.Val2138Phe Missense 11/27 -
17-16322676-T-C TRPV2 c.201-753T>C - IntronicSNV - 2/14
1-10511596-C-T CORT c.262C>T p.Arg88Trp Missense 2/2 -
1-10511596-C-G CORT c.262C>G p.Arg88Gly Missense 2/2 -
11-2439767-T-C TRPM5 c.704A>G p.Asn235Ser Missense 5/24 -
3-185986598-G-A DGKG c.1108C>T p.Arg370Trp Missense 12/24 -
5-90024735-G-A ADGRV1 c.10411G>A p.Glu3471Lys Missense 49/90 -
11-65685225-T-C C11orf68 c.584A>G p.Gln195Arg Missense 2/2 -
11-65685225-T-A C11orf68 c.584A>T p.Gln195Leu Missense 2/2 -
13-32914814-C-T BRCA2 c.6322C>T p.Arg2108Cys Missense 11/27 -
19-18507715-C-T LRRC25 c.59G>A p.Ser20Asn Missense 1/2 -
12-53682107-G-A ESPL1 c.4528G>A p.Gly1510Arg Missense 19/31 -
9-130687485-C-T PIP5KL1 c.209G>A p.Arg70Gln Missense 4/5 -
12-50190667-A-G NCKAP5L c.976T>C p.Leu326Leu Synonymous 8/13 -
12-70965009-G-A PTPRB c.3167C>T p.Thr1056Ile Missense 13/34 -
12-50190667-A-T NCKAP5L c.976T>A p.Leu326Met Missense 8/13 -
11-65123754-C-A TIGD3 c.475C>A p.Gln159Lys Missense 2/2 -
6-117203573-G-T RFX6 c.548G>T p.Gly183Val Missense 4/19 -
11-65123754-C-T TIGD3 c.475C>T p.Gln159* Nonsense 2/2 -
1-201843969-A-G IPO9 c.2843A>G p.Asn948Ser Missense 22/24 -
1-149906999-C-G MTMR11 c.132G>C p.Gln44His Missense 4/17 -
1-201843969-A-C IPO9 c.2843A>C p.Asn948Thr Missense 22/24 -
17-72351406-C-T KIF19 c.2952C>T p.His984His Synonymous 20/20 -
22-29130589-A-T CHEK2 c.121T>A p.Ser41Thr Missense 2/16 -
14-91744435-C-T CCDC88C c.4889G>A p.Arg1630His Missense 29/30 -
15-45401034-C-T DUOX2 c.1351G>A p.Asp451Asn Missense 12/34 -
3-128369597-G-C RPN1 c.47C>G p.Thr16Ser Missense 1/10 -
2-207172889-C-T ZDBF2 c.3637C>T p.Arg1213Trp Missense 5/5 -
12-6649710-G-A IFFO1 c.1628C>T p.Pro543Leu Missense 10/10 -
12-28605426-G-A CCDC91 c.940G>A p.Val314Met Missense 11/13 -
2-202625615-C-T ALS2 c.1102G>A p.Val368Met Missense 4/34 -
7-1486451-G-A MICALL2 c.539C>T p.Ala180Val Missense 5/17 -
19-42083820-C-G CEACAM21 c.333C>G p.Asn111Lys Missense 2/7 -
4-2695585-C-T FAM193A c.2203C>T p.Pro735Ser Missense 14/19 -
17-47243608-C-T B4GALNT2 c.1267C>T p.Leu423Leu Synonymous 9/11 -
8-23225732-G-A LOXL2 c.133C>T p.His45Tyr Missense 2/14 -
18-23901159-T-C TAF4B c.2128T>C p.Tyr710His Missense 11/15 -
1-54477864-C-G LDLRAD1 c.292G>C p.Gly98Arg Missense 4/6 -
12-56998559-C-T BAZ2A c.2779G>A p.Val927Met Missense 15/29 -
1-1322654-C-T CCNL2 c.1520G>A p.Arg507His Missense 11/11 -
17-41245136-C-G BRCA1 c.2412G>C p.Gln804His Missense 10/23 -
17-47075135-A-G IGF2BP1 c.28A>G p.Asn10Asp Missense 1/15 -
19-51518112-A-T KLK10 c.775T>A p.Tyr259Asn Missense 6/6 -
19-51518112-A-G KLK10 c.775T>C p.Tyr259His Missense 6/6 -
16-23634293-C-G PALB2 c.2993G>C p.Gly998Ala Missense 9/13 -
16-23634293-C-T PALB2 c.2993G>A p.Gly998Glu Missense 9/13 -
19-41950049-G-A ERICH4 c.313G>A p.Glu105Lys Missense 2/2 -
5-176013823-C-T CDHR2 c.2836C>T p.Arg946Trp Missense 21/32 -
5-176013823-C-A CDHR2 c.2836C>A p.Arg946Arg Synonymous 21/32 -
19-42083820-C-T CEACAM21 c.333C>T p.Asn111Asn Synonymous 2/7 -
6-44275121-G-A AARS2 c.905C>T p.Ala302Val Missense 6/22 -
17-47243608-C-G B4GALNT2 c.1267C>G p.Leu423Val Missense 9/11 -
18-28713994-A-T DSC1 c.1976T>A p.Met659Lys Missense 13/17 -
2-85922506-A-G GNLY c.116A>G p.Glu39Gly Missense 2/5 -
10-104572682-C-T WBP1L c.623C>T p.Pro208Leu Missense 4/4 -
6-13977469-G-C RNF182 c.119G>C p.Cys40Ser Missense 3/3 -
22-39138332-G-A SUN2 c.1105C>T p.Arg369Cys Missense 9/18 -
17-41245136-C-T BRCA1 c.2412G>A p.Gln804Gln Synonymous 10/23 -
11-75439894-A-G MOGAT2 c.710A>G p.Asn237Ser Missense 5/6 -
3-49462856-A-G NICN1 c.439T>C p.Phe147Leu Missense 4/6 -
17-7577577-T-C TP53 c.704A>G p.Asn235Ser Missense 7/11 -
17-7577577-T-A TP53 c.704A>T p.Asn235Ile Missense 7/11 -
7-101183198-C-T COL26A1 c.466C>T p.Arg156Trp Missense 5/14 -
17-35771468-C-T TADA2A c.16C>T p.Pro6Ser Missense 2/16 -
11-63987441-C-G FERMT3 c.1158C>G p.Ser386Arg Missense 10/15 -
5-1264587-G-T TERT c.2654+1992C>A - IntronicSNV - 10/14
5-1264587-G-A TERT c.2654+1992C>T - IntronicSNV - 10/14
20-44462924-G-A SNX21 c.106G>A p.Ala36Thr Missense 2/4 -
6-129980436-T-G ARHGAP18 c.114-17273A>C - IntronicSNV - 1/14
6-129980436-T-C ARHGAP18 c.114-17273A>G - IntronicSNV - 1/14
10-96541615-C-T CYP2C19 c.680C>T p.Pro227Leu Missense 5/9 -
20-52193088-C-T ZNF217 c.2215G>A p.Val739Ile Missense 3/5 -
7-4259879-A-T SDK1 c.5678A>T p.Asn1893Ile Missense 39/45 -
7-4259879-A-G SDK1 c.5678A>G p.Asn1893Ser Missense 39/45 -
19-17081707-G-A CPAMD8 c.2207C>T - missense_variant 18/42 -
6-32408735-A-C HLA-DRA c.82+926A>C - IntronicSNV - 1/4
3-169644903-C-G SAMD7 c.853C>G p.Gln285Glu Missense 6/9 -
1-45808863-G-A TOE1 c.1022G>A p.Arg341His Missense 8/8 -
2-108994808-C-G SULT1C4 c.15C>G p.Asp5Glu Missense 1/7 -
X-51640144-C-T MAGED1 c.1393C>T p.Pro465Ser Missense 4/13 -
X-51640144-C-G MAGED1 c.1393C>G p.Pro465Ala Missense 4/13 -
10-6255624-G-A PFKFB3 c.115G>A p.Val39Ile Missense 2/15 -
8-2795835-T-C CSMD1 c.*272A>G - 3-UTRSNV 70/70 -
13-32907129-T-C BRCA2 c.1514T>C p.Ile505Thr Missense 10/27 -
13-32913077-G-A BRCA2 c.4585G>A p.Gly1529Arg Missense 11/27 -
1-95363001-T-C CNN3 c.*297A>G - 3-UTRSNV 7/7 -
17-41245090-T-C BRCA1 c.2458A>G p.Lys820Glu Missense 10/23 -
20-37378721-G-A ACTR5 c.444G>A p.Met148Ile Missense 2/9 -
5-131915179-T-C RAD50 c.536T>C p.Ile179Thr Missense 4/25 -
22-29628260-C-G EMID1 c.692C>G p.Pro231Arg Missense 8/15 -
14-51084235-T-C ATL1 c.862+3006T>C - IntronicSNV - 9/13
16-84270476-G-A KCNG4 c.616C>T p.Arg206Trp Missense 2/3 -
19-41518244-C-T CYP2B6 c.1006C>T p.Arg336Cys Missense 7/9 -
3-113503269-C-T ATP6V1A c.410C>T p.Pro137Leu Missense 4/15 -
19-36340009-G-A NPHS1 c.881C>T p.Thr294Ile Missense 8/29 -
7-81714211-T-C CACNA2D1 c.532A>G p.Ile178Val Missense 7/39 -
17-7846713-G-A CNTROB c.1316G>A p.Arg439Gln Missense 10/19 -
2-86276315-T-C POLR1A c.2443A>G p.Ile815Val Missense 17/34 -
19-38876352-G-A GGN c.1550C>T p.Ala517Val Missense 3/4 -
17-39520119-C-T KRT33B c.1184G>A p.Arg395His Missense 7/7 -
13-32937526-G-T BRCA2 c.8187G>T p.Lys2729Asn Missense 18/27 -
19-17534560-C-A MVB12A c.592C>A p.Arg198Arg Synonymous 6/9 -
14-51084235-T-A ATL1 c.862+3006T>A - IntronicSNV - 9/13
1-203769532-G-A ZBED6 c.2882G>A p.Ser961Asn Missense 1/1 -
5-56155672-A-C MAP3K1 c.764A>C p.Asn255Thr Missense 3/20 -
17-61897716-C-G FTSJ3 c.2155G>C p.Val719Leu Missense 19/21 -
5-56155672-A-G MAP3K1 c.764A>G p.Asn255Ser Missense 3/20 -
6-32605284-G-A HLA-DQA1 c.49G>A p.Val17Met Missense 1/5 -
1-182555640-A-G RNASEL c.302T>C p.Ile101Thr Missense 2/7 -
2-1520676-T-C TPO c.2540T>C p.Val847Ala Missense 15/17 -
16-53358439-A-G CHD9 c.8278A>G p.Thr2760Ala Missense 39/39 -
13-32914712-C-A BRCA2 c.6220C>A p.His2074Asn Missense 11/27 -
13-32914712-C-T BRCA2 c.6220C>T p.His2074Tyr Missense 11/27 -
4-90856383-G-A MMRN1 c.1552G>A p.Glu518Lys Missense 6/8 -
6-41118000-A-G TREML1 c.620T>C p.Met207Thr Missense 5/6 -
6-32629755-G-T HLA-DQB1 c.650C>A p.Thr217Asn Missense 3/5 -
17-46847364-C-A TTLL6 c.1215G>T p.Glu405Asp Missense 7/9 -
20-60587876-C-T TAF4 c.1636G>A p.Val546Ile Missense 3/15 -
11-113629371-G-A ZW10 c.638C>T p.Ser213Leu Missense 6/16 -
6-151673413-G-A AKAP12 c.3887G>A p.Arg1296Gln Missense 4/5 -
6-151673413-G-T AKAP12 c.3887G>T p.Arg1296Leu Missense 4/5 -
2-10262920-T-C RRM2 c.1-6T>C - 5-UTRSNV 1/10 -
11-108159732-C-T ATM c.4138C>T p.His1380Tyr Missense 28/63 -
6-116757751-C-G DSE c.2120C>G p.Ser707Cys Missense 6/6 -
2-202122995-A-G CASP8 c.1-8215A>G - IntronicSNV - 2/9
11-65660600-G-T FOSL1 c.573C>A p.Ser191Arg Missense 4/4 -
17-39974440-C-G FKBP10 c.491C>G p.Pro164Arg Missense 3/10 -
11-65647737-G-A CTSW c.152G>A p.Arg51Gln Missense 2/10 -
17-39974440-C-T FKBP10 c.491C>T p.Pro164Leu Missense 3/10 -
17-39974440-C-A FKBP10 c.491C>A p.Pro164Gln Missense 3/10 -
8-124526607-G-A FBXO32 c.373-7793C>T - IntronicSNV - 4/6
11-102398329-C-T MMP7 c.410G>A p.Gly137Asp Missense 3/6 -
11-66082428-G-T CD248 c.2071C>A p.Leu691Ile Missense 1/1 -
11-66082428-G-A CD248 c.2071C>T p.Leu691Phe Missense 1/1 -
13-32911547-C-G BRCA2 c.3055C>G p.Leu1019Val Missense 11/27 -
5-16701796-A-G MYO10 c.2708T>C p.Met903Thr Missense 25/41 -
11-65825525-A-C SF3B2 c.778A>C p.Met260Leu Missense 8/22 -
16-31391887-C-T ITGAX c.3218C>T p.Thr1073Met Missense 28/30 -
5-35065328-C-G PRLR c.1732G>C p.Glu578Gln Missense 10/10 -
5-16701796-A-T MYO10 c.2708T>A p.Met903Lys Missense 25/41 -
7-151407801-G-A PRKAG2 c.467-35078C>T - IntronicSNV - 3/15
11-65767578-G-C EIF1AD c.142C>G p.Arg48Gly Missense 3/6 -
1-155180178-G-C MTX1 c.570G>C p.Lys190Asn Missense 2/7 -
17-53045947-G-A COX11 c.61C>T p.His21Tyr Missense 1/4 -
5-886744-C-G BRD9 c.796G>C p.Ala266Pro Missense 7/16 -
5-131924481-G-A RAD50 c.1154G>A p.Arg385His Missense 8/25 -
5-158139228-C-G EBF1 c.1483G>C p.Ala495Pro Missense 14/16 -
19-38912609-C-G RASGRP4 c.208G>C p.Asp70His Missense 2/17 -
21-43524050-C-G UMODL1 c.1372C>G p.Leu458Val Missense 9/23 -
6-31557696-C-T NCR3 c.251G>A p.Arg84His Missense 2/4 -
1-34238283-T-C CSMD2 c.1613A>G p.His538Arg Missense 13/70 -
19-44669960-T-A ZNF226 c.-47T>A - splice_region_variant,5_prime_UTR_variant 2/6 -
6-136683828-A-G MAP7 c.1286T>C p.Met429Thr Missense 11/18 -
11-65767578-G-A EIF1AD c.142C>T p.Arg48Cys Missense 3/6 -
12-49255829-A-C RND1 c.281T>G p.Ile94Ser Missense 3/5 -
12-9020509-C-G A2ML1 c.3789C>G p.Asn1263Lys Missense 30/36 -
1-153934820-C-A SLC39A1 c.194G>T p.Arg65Leu Missense 4/5 -
13-32915313-G-A BRCA2 c.6821G>A p.Gly2274Glu Missense 11/27 -
17-10429123-G-A MYH2 c.4258C>T p.Leu1420Phe Missense 31/40 -
6-117589463-A-G VGLL2 c.200A>G p.Glu67Gly Missense 2/3 -
14-53348001-T-C FERMT2 c.713A>G p.Lys238Arg Missense 5/15 -
15-64792042-G-T ZNF609 c.424G>T p.Gly142Cys Missense 2/10 -
1-70889999-C-T CTH c.488C>T p.Thr163Ile Missense 5/12 -
12-12814818-C-T GPR19 c.565G>A p.Val189Ile Missense 4/4 -
11-6898714-C-A OR10A4 c.836C>A p.Ser279Tyr Missense 1/1 -
8-23225732-G-C LOXL2 c.133C>G p.His45Asp Missense 2/14 -
19-55897956-G-A RPL28 c.100G>A p.Ala34Thr Missense 3/5 -
5-131925354-A-G RAD50 c.1277A>G p.Gln426Arg Missense 9/25 -
17-80137043-C-G CCDC57 c.1234G>C p.Ala412Pro Missense 9/17 -
21-16337963-T-A NRIP1 c.2551A>T p.Asn851Tyr Missense 4/4 -
21-16337963-T-G NRIP1 c.2551A>C p.Asn851His Missense 4/4 -
6-167343141-G-T RNASET2 c.706C>A p.Arg236Arg Synonymous 9/9 -
6-167343141-G-A RNASET2 c.706C>T p.Arg236Trp Missense 9/9 -
20-61491494-T-C TCFL5 c.814A>G p.Asn272Asp Missense 2/6 -
5-44305104-T-G FGF10 c.620A>C p.His207Pro Missense 3/3 -
5-44305104-T-C FGF10 c.620A>G p.His207Arg Missense 3/3 -
2-113539232-G-T IL1A c.268C>A p.Gln90Lys Missense 4/7 -
1-114380886-T-C PTPN22 c.1136A>G p.Asp379Gly Missense 13/21 -
22-50555686-A-C MOV10L1 c.1360A>C p.Ile454Leu Missense 9/27 -
12-53702081-C-T AAAS c.1135G>A p.Ala379Thr Missense 12/15 -
5-9041935-G-A SEMA5A c.*1074C>T - 3-UTRSNV 23/23 -
13-32914592-C-A BRCA2 c.6100C>A p.Arg2034Ser Missense 11/27 -
10-25312895-C-A THNSL1 c.743C>A p.Ala248Glu Missense 3/3 -
11-108175463-A-T ATM c.5558A>T p.Asp1853Val Missense 37/63 -
13-32914592-C-T BRCA2 c.6100C>T p.Arg2034Cys Missense 11/27 -
1-229594003-C-G NUP133 c.2885G>C p.Arg962Pro Missense 21/26 -
17-42335888-G-T SLC4A1 c.980C>A p.Pro327His Missense 10/20 -
17-42335888-G-C SLC4A1 c.980C>G p.Pro327Arg Missense 10/20 -
17-42335888-G-A SLC4A1 c.980C>T p.Pro327Leu Missense 10/20 -
2-85549868-A-G TGOLN2 c.1309-4T>C - IntronicSNV - 3/3
4-95514609-A-C PDLIM5 c.593+7014A>C - IntronicSNV - 7/12
7-151874581-G-C KMT2C c.7957C>G p.Leu2653Val Missense 38/59 -
4-74308089-A-C AFP c.559A>C p.Lys187Gln Missense 5/15 -
16-81030993-G-A CMC2 c.7C>T p.Pro3Ser Missense 2/4 -
17-59885856-T-G BRIP1 c.890A>C p.Lys297Thr Missense 7/20 -
17-59885856-T-C BRIP1 c.890A>G p.Lys297Arg Missense 7/20 -
16-23647238-G-A PALB2 c.629C>T p.Pro210Leu Missense 4/13 -
10-69672479-G-A SIRT1 c.1606G>A p.Glu536Lys Missense 8/9 -
19-44006342-C-T PHLDB3 c.307G>A p.Gly103Arg Missense 3/16 -
6-32015775-G-A TNXB c.10054C>T p.Pro3352Ser Missense 30/44 -
9-123874803-G-A CNTRL c.1069G>A p.Ala357Thr Missense 7/42 -
12-96260923-G-T CCDC38 c.1623C>A p.Asn541Lys Missense 16/16 -
12-96260923-G-A CCDC38 c.1623C>T p.Asn541Asn Synonymous 16/16 -
6-34512195-G-C SPDEF c.38C>G p.Pro13Arg Missense 2/6 -
14-92278829-A-G TC2N c.128T>C p.Val43Ala Missense 3/12 -
12-49726851-T-A C1QL4 c.703A>T p.Ile235Phe Missense 2/2 -
7-100634506-C-A MUC12 c.662C>A p.Ser221Tyr Missense 2/12 -
3-113165480-T-G SPICE1 c.2470A>C p.Thr824Pro Missense 17/18 -
20-61391977-G-T NTSR1 c.*358G>T - 3-UTRSNV 4/4 -
2-99520608-T-C KIAA1211L c.-11+31793A>G - intron_variant - 1/9
11-66033430-C-T KLC2 c.1549C>T p.Pro517Ser Missense 13/16 -
6-152615118-A-T SYNE1 c.17827T>A p.Ser5943Thr Missense 94/146 -
6-152615118-A-G SYNE1 c.17827T>C p.Ser5943Pro Missense 94/146 -
19-45281406-CC-AA CBLC c.218_219delCCinsAA p.Pro73Gln Missense 1/11 -
1-155223469-G-A FAM189B c.568C>T p.Leu190Phe Missense 5/12 -
3-195594494-C-T TNK2 c.2630G>A p.Arg877His Missense 12/15 -
11-65487769-G-A RNASEH2C c.292C>T p.Pro98Ser Missense 2/4 -
11-65487769-G-C RNASEH2C c.292C>G p.Pro98Ala Missense 2/4 -
6-34512195-G-T SPDEF c.38C>A p.Pro13His Missense 2/6 -
10-13155726-T-C OPTN c.552+1091T>C - IntronicSNV - 4/13
X-140993264-G-C MAGEC1 c.74G>C p.Cys25Ser Missense 4/4 -
8-19362732-G-C CSGALNACT1 c.614C>G p.Thr205Arg Missense 4/10 -
8-19362732-G-A CSGALNACT1 c.614C>T p.Thr205Met Missense 4/10 -
11-65360925-G-T KCNK7 c.740C>A p.Ala247Glu Missense 2/2 -
2-201764172-G-A NIF3L1 c.849G>A p.Glu283Glu Synonymous 6/7 -
19-51462454-G-T KLK6 c.701C>A p.Thr234Lys Missense 7/7 -
16-77822722-C-T VAT1L c.143C>T p.Ala48Val Missense 1/9 -
1-156700651-T-G RRNAD1 c.112-1132T>G - IntronicSNV - 1/7
1-247769412-C-A OR2G3 c.525C>A p.Asp175Glu Missense 1/1 -
16-1260481-T-C CACNA1H c.3957T>C p.Asp1319Asp Synonymous 19/34 -
1-118441771-G-A GDAP2 c.704C>T p.Pro235Leu Missense 7/14 -
4-74702951-C-A CXCL6 c.274C>A p.Leu92Met Missense 3/4 -
11-111156719-T-G C11orf53 c.807T>G - synonymous_variant 5/5 -
8-23423697-G-T SLC25A37 c.287G>T p.Arg96Leu Missense 2/4 -
22-24761467-G-A SPECC1L c.2851G>A p.Val951Met Missense 13/17 -
13-32972852-C-T BRCA2 c.10202C>T p.Thr3401Met Missense 27/27 -
13-32914839-A-G BRCA2 c.6347A>G p.His2116Arg Missense 11/27 -
13-32914839-A-T BRCA2 c.6347A>T p.His2116Leu Missense 11/27 -
8-23423697-G-A SLC25A37 c.287G>A p.Arg96Gln Missense 2/4 -
14-25101589-G-C GZMB c.280C>G p.Pro94Ala Missense 3/5 -
7-97482484-G-A ASNS c.1364C>T p.Ser455Phe Missense 12/13 -
7-100634667-C-G MUC12 c.823C>G p.Pro275Ala Missense 2/12 -
22-43010817-G-A POLDIP3 c.47C>T p.Ala16Val Missense 1/9 -
15-51569410-A-T CYP19A1 c.1-34301T>A - IntronicSNV - 1/9
22-43010817-G-T POLDIP3 c.47C>A p.Ala16Glu Missense 1/9 -
11-108192118-G-T ATM c.6543G>T p.Glu2181Asp Missense 45/63 -
1-155103842-T-G EFNA1 c.120T>G p.His40Gln Missense 2/5 -
1-155103842-T-C EFNA1 c.120T>C p.His40His Synonymous 2/5 -
20-40783392-A-G PTPRT c.2682+6600T>C - IntronicSNV - 17/30
17-7577091-G-C TP53 c.847C>G p.Arg283Gly Missense 8/11 -
17-47039132-T-C GIP c.307A>G p.Ser103Gly Missense 4/6 -
19-57723007-G-C ZNF264 c.542G>C p.Arg181Thr Missense 4/4 -
11-65810612-G-T GAL3ST3 c.662C>A p.Ala221Asp Missense 3/3 -
20-62607179-G-T SAMD10 c.452C>A p.Ala151Glu Missense 4/5 -
6-31322905-T-C HLA-B c.991A>G p.Met331Val Missense 5/8 -
17-59876546-G-T BRIP1 c.1255C>A p.Arg419Arg Synonymous 9/20 -
11-108138039-A-G ATM c.2608A>G p.Asn870Asp Missense 17/63 -
17-41244246-C-T BRCA1 c.3302G>A p.Ser1101Asn Missense 10/23 -
1-26582091-G-A CEP85 c.638G>A p.Ser213Asn Missense 4/14 -
10-55721531-T-C PCDH15 c.2990A>G p.Glu997Gly Missense 22/33 -
16-58577467-C-G CNOT1 c.4434+44G>C - IntronicSNV - 31/48
16-58577467-C-A CNOT1 c.4434+44G>T - IntronicSNV - 31/48
15-91428327-C-A FES c.52C>A p.Gln18Lys Missense 2/19 -
2-174224215-G-C CDCA7 c.380G>C p.Gly127Ala Missense 3/10 -
22-41077895-C-T MCHR1 c.1232C>T p.Thr411Met Missense 2/2 -
22-41077895-C-A MCHR1 c.1232C>A p.Thr411Lys Missense 2/2 -
6-1390433-G-A FOXF2 c.251G>A p.Gly84Glu Missense 1/2 -
20-62838958-G-A MYT1 c.409G>A p.Val137Ile Missense 7/23 -
19-17394361-G-A ANKLE1 c.950G>A p.Arg317Lys Missense 5/9 -
2-10053341-G-C TAF1B c.1234G>C p.Asp412His Missense 12/15 -
7-82785304-G-A PCLO c.653C>T p.Pro218Leu Missense 2/20 -
16-9858173-G-T GRIN2A c.3228C>A p.Asn1076Lys Missense 14/14 -
16-9858173-G-C GRIN2A c.3228C>G p.Asn1076Lys Missense 14/14 -
17-59876546-G-A BRIP1 c.1255C>T p.Arg419Trp Missense 9/20 -
17-59876546-G-C BRIP1 c.1255C>G p.Arg419Gly Missense 9/20 -
17-41245027-G-A BRCA1 c.2521C>T p.Arg841Trp Missense 10/23 -
12-49719584-C-G TROAP c.550C>G p.Pro184Ala Missense 5/15 -
3-127646773-C-T KBTBD12 c.1237C>T p.Arg413Trp Missense 3/6 -
20-62226971-G-A GMEB2 c.611C>T p.Ala204Val Missense 6/10 -
2-85981389-T-C ATOH8 c.77T>C p.Leu26Pro Missense 1/3 -
12-50152192-C-T TMBIM6 c.362C>T p.Thr121Met Missense 6/10 -
7-122635349-T-C TAS2R16 c.340A>G p.Ile114Val Missense 1/1 -
9-134385436-A-G POMT1 c.752A>G p.Gln251Arg Missense 8/20 -
1-68905294-G-A RPE65 c.675C>T p.Ile225Ile Synonymous 7/14 -
1-68905294-G-C RPE65 c.675C>G p.Ile225Met Missense 7/14 -
8-16032804-T-C MSR1 c.109A>G p.Lys37Glu Missense 3/9 -
8-76452313-G-A HNF4G c.116G>A - missense_variant,splice_region_variant 1/10 -
8-61654847-A-G CHD7 c.856A>G p.Arg286Gly Missense 2/38 -
13-32913173-C-A BRCA2 c.4681C>A p.His1561Asn Missense 11/27 -
7-97933515-G-A BAIAP2L1 c.1415C>T p.Ala472Val Missense 12/14 -
7-99695787-T-C MCM7 c.319A>G p.Thr107Ala Missense 6/14 -
16-69727480-A-G NFAT5 c.3470A>G p.Gln1157Arg Missense 14/16 -
3-141328343-A-T RASA2 c.2307A>T p.Leu769Phe Missense 22/24 -
11-34655363-A-G EHF c.1-8815A>G - IntronicSNV - 1/8
11-34655363-A-T EHF c.1-8815A>T - IntronicSNV - 1/8
11-108196896-C-T ATM c.6919C>T p.Leu2307Phe Missense 47/63 -
10-100017453-T-G LOXL4 c.1214A>C p.Asp405Ala Missense 8/15 -
11-108155132-G-A ATM c.3925G>A p.Ala1309Thr Missense 26/63 -
17-72758167-G-A SLC9A3R1 c.458G>A p.Arg153Gln Missense 2/6 -
14-60923783-C-G C14orf39 c.1210G>C p.Val404Leu Missense 15/18 -
19-3624005-G-T CACTIN c.323C>A p.Ser108* Nonsense 2/10 -
19-3624005-G-C CACTIN c.323C>G p.Ser108Trp Missense 2/10 -
12-53433486-C-T EIF4B c.1755C>T p.Ser585Ser Synonymous 14/15 -
11-108124738-A-G ATM c.2096A>G p.Glu699Gly Missense 13/63 -
8-16026243-C-T MSR1 c.354G>A p.Met118Ile Missense 4/9 -
20-60988576-G-C RBBP8NL c.1556C>G p.Ser519Cys Missense 11/14 -
10-22680787-A-G SPAG6 c.1060A>G p.Thr354Ala Missense 11/14 -
12-53586685-C-T ITGB7 c.1736G>A p.Arg579His Missense 13/16 -
12-52824425-C-T KRT75 c.935G>A p.Arg312His Missense 5/9 -
3-113275624-A-C SIDT1 c.223-9643A>C - IntronicSNV - 1/24
3-113275624-A-T SIDT1 c.223-9643A>T - IntronicSNV - 1/24
1-145562149-C-A ANKRD35 c.1837C>A p.Leu613Met Missense 10/14 -
1-145562149-C-T ANKRD35 c.1837C>T p.Leu613Leu Synonymous 10/14 -
17-47436749-G-A ZNF652 c.-259+3026C>T - intron_variant - 1/5
5-136608159-A-C SPOCK1 c.187-5415T>G - IntronicSNV - 2/10
17-41244526-T-G BRCA1 c.3022A>C p.Met1008Leu Missense 10/23 -
5-169680139-G-C LCP2 c.1229C>G p.Ser410Cys Missense 18/21 -
7-143807304-T-C OR2A2 c.629T>C p.Leu210Pro Missense 1/1 -
19-45296806-C-T CBLC c.1213C>T p.His405Tyr Missense 8/11 -
19-45296806-C-G CBLC c.1213C>G p.His405Asp Missense 8/11 -
5-1463932-G-A LPCAT1 c.1439C>T p.Ala480Val Missense 14/14 -
5-1294166-C-T TERT c.835G>A p.Ala279Thr Missense 2/15 -
12-113565637-G-A RASAL1 c.278C>T p.Ala93Val Missense 5/22 -
15-89803950-C-T FANCI c.164C>T p.Pro55Leu Missense 4/37 -
20-33872215-C-A EIF6 c.76G>T p.Val26Leu Missense 2/7 -
17-12901781-A-C ELAC2 c.1348T>G p.Ser450Ala Missense 15/23 -
17-12901781-A-T ELAC2 c.1348T>A p.Ser450Thr Missense 15/23 -
12-14664250-A-G PLBD1 c.1130T>C p.Val377Ala Missense 8/11 -
11-6661352-C-A DCHS1 c.1493G>T p.Arg498Leu Missense 2/21 -
18-24570667-T-G CHST9 c.202+33413A>C - IntronicSNV - 4/5
11-108115600-CGA-TGG ATM c.748_750delCGAinsTGG p.Arg250Trp Missense 7/63 -
9-131762080-A-G NUP188 c.3839A>G p.Asp1280Gly Missense 34/44 -
11-2181191-C-A INS c.224G>T p.Gly75Val Missense 3/3 -
6-13595765-A-C SIRT5 c.532A>C p.Ser178Arg Missense 6/9 -
7-133886309-G-T LRGUK c.1824G>T p.Lys608Asn Missense 15/20 -
2-29497967-G-A ALK c.2039C>T p.Thr680Ile Missense 11/29 -
4-113352745-G-A ALPK1 c.2042G>A p.Gly681Asp Missense 11/16 -
11-108235879-C-T ATM c.8921C>T p.Pro2974Leu Missense 62/63 -
16-80650805-A-G CDYL2 c.1007+3855T>C - IntronicSNV - 4/6
17-12905790-T-C ELAC2 c.1066A>G p.Ile356Val Missense 12/23 -
17-12905790-T-A ELAC2 c.1066A>T p.Ile356Phe Missense 12/23 -
10-5498856-G-A NET1 c.1528G>A p.Glu510Lys Missense 10/10 -
17-41244526-T-C BRCA1 c.3022A>G p.Met1008Val Missense 10/23 -
10-123346116-G-A FGFR2 c.109+7107C>T - IntronicSNV - 2/17
X-83723541-A-G HDX c.1190T>C p.Phe397Ser Missense 3/10 -
1-169521853-A-G F5 c.1238T>C p.Met413Thr Missense 8/25 -
3-179162316-C-A GNB4 c.-43+6818G>T - intron_variant - 1/9
6-4074822-C-A FAM217A c.134G>T p.Gly45Val Missense 3/7 -
17-41244100-G-A BRCA1 c.3448C>T p.Pro1150Ser Missense 10/23 -
17-46804358-G-A HOXB13 c.649C>T p.Arg217Cys Missense 2/2 -
15-89821993-AG-CC FANCI c.1369_1370delAGinsCC p.Ser457Pro Missense 14/37 -
3-102157417-A-G ZPLD1 c.134A>G p.Asn45Ser Missense 2/11 -
17-72926682-G-A OTOP2 c.952G>A p.Gly318Arg Missense 6/7 -
1-183938537-G-A COLGALT2 c.698C>T p.Pro233Leu Missense 5/12 -
6-32159674-G-A GPSM3 c.157C>T p.Arg53Cys Missense 7/8 -
8-16026259-A-G MSR1 c.338T>C p.Val113Ala Missense 4/9 -
12-50044492-C-T FMNL3 c.1967G>A p.Arg656His Missense 17/26 -
5-176011198-A-G CDHR2 c.2066A>G p.Asn689Ser Missense 18/32 -
17-47394825-G-A ZNF652 c.263C>T p.Ser88Phe Missense 2/6 -
17-47394825-G-C ZNF652 c.263C>G p.Ser88Cys Missense 2/6 -
9-130186700-C-T ZNF79 c.1-367C>T - 5-UTRSNV 1/5 -
6-41129133-C-T TREM2 c.259G>A p.Asp87Asn Missense 2/5 -
1-70896038-T-G CTH c.685T>G p.Cys229Gly Missense 7/12 -
1-70896038-T-A CTH c.685T>A p.Cys229Ser Missense 7/12 -
16-57188397-G-C FAM192A c.570C>G p.Leu190Leu Synonymous 7/7 -
12-49960215-C-T MCRS1 c.11-217G>A - IntronicSNV - 2/14
18-43307246-C-T SLC14A1 c.-22+2268C>T - intron_variant - 2/9
20-60963386-C-T RPS21 c.208C>T p.Leu70Phe Missense 5/6 -
14-74759006-C-T ABCD4 c.1102G>A p.Glu368Lys Missense 11/19 -
1-216373416-A-C USH2A c.3364T>G p.Ser1122Ala Missense 17/21 -
13-32953529-A-T BRCA2 c.8830A>T p.Ile2944Phe Missense 22/27 -
13-32912582-A-G BRCA2 c.4090A>G p.Ile1364Val Missense 11/27 -
17-35872409-C-T DUSP14 c.35C>T p.Thr12Ile Missense 3/3 -
17-41244429-C-G BRCA1 c.3119G>C p.Ser1040Thr Missense 10/23 -
17-41244429-C-T BRCA1 c.3119G>A p.Ser1040Asn Missense 10/23 -
1-33361287-G-A TMEM54 c.328C>T p.Leu110Phe Missense 4/6 -
2-228560632-C-T SLC19A3 c.1145G>A p.Ser382Asn Missense 4/6 -
2-238443226-A-G MLPH c.1040A>G p.His347Arg Missense 9/16 -
13-32930598-T-C BRCA2 c.7469T>C p.Ile2490Thr Missense 15/27 -
13-32912582-A-C BRCA2 c.4090A>C p.Ile1364Leu Missense 11/27 -
6-31914306-G-A CFB c.221G>A p.Arg74His Missense 2/18 -
1-240370313-G-A FMN2 c.2201G>A p.Arg734Gln Missense 5/18 -
2-19553104-T-C OSR1 c.463A>G p.Lys155Glu Missense 2/3 -
19-51485072-C-T KLK7 c.172G>A p.Val58Ile Missense 3/6 -
13-32907000-A-G BRCA2 c.1385A>G p.Glu462Gly Missense 10/27 -
2-242109206-C-T PPP1R7 c.830C>T p.Thr277Met Missense 9/10 -
14-53245082-A-C GNPNAT1 c.502T>G p.Phe168Val Missense 6/6 -
16-57188397-G-A FAM192A c.570C>T p.Leu190Leu Synonymous 7/7 -
4-106158350-A-C TET2 c.3251A>C p.Gln1084Pro Missense 3/3 -
3-48637143-C-T UQCRC1 c.1303G>A p.Glu435Lys Missense 12/13 -
6-32816772-C-A TAP1 c.1552G>T p.Val518Leu Missense 6/11 -
11-108138003-T-C ATM c.2572T>C p.Phe858Leu Missense 17/63 -
16-68056703-G-T DDX28 c.403C>A p.Pro135Thr Missense 1/1 -
12-49375317-C-T WNT1 c.1007C>T p.Thr336Met Missense 4/4 -
19-33467413-C-T FAAP24 c.473C>T p.Ser158Leu Missense 5/5 -
2-238494719-T-A RAB17 c.79A>T p.Ser27Cys Missense 2/6 -
5-56526795-A-C GPBP1 c.186A>C p.Gly62Gly Synonymous 4/12 -
19-41628761-A-T CYP2F1 c.857A>T p.Asp286Val Missense 7/10 -
12-53509948-G-A SOAT2 c.776G>A p.Arg259Gln Missense 7/15 -
18-51888070-C-G C18orf54 c.341C>G p.Thr114Ser Missense 3/8 -
12-121163723-C-T ACADS c.35C>T p.Pro12Leu Missense 1/10 -
6-151688004-G-C ZBTB2 c.197C>G p.Thr66Ser Missense 3/3 -
6-151688004-G-T ZBTB2 c.197C>A p.Thr66Asn Missense 3/3 -
19-17628127-G-A PGLS c.427G>A p.Asp143Asn Missense 3/5 -
19-41628761-A-G CYP2F1 c.857A>G p.Asp286Gly Missense 7/10 -
3-170198942-C-A SLC7A14 c.1129G>T p.Val377Phe Missense 7/8 -
11-20139768-T-A NAV2 c.7254T>A p.Asp2418Glu Missense 38/38 -
11-57428280-T-C CLP1 c.650T>C p.Val217Ala Missense 3/3 -
19-18546125-C-T ISYNA1 c.1423G>A p.Val475Met Missense 10/11 -
19-17836969-A-G MAP1S c.776A>G p.Asn259Ser Missense 5/7 -
4-74719604-C-T PF4V1 c.205C>T p.His69Tyr Missense 2/3 -
1-33292008-G-A S100PBP c.308G>A p.Ser103Asn Missense 3/7 -
20-62494241-G-A ABHD16B c.1348G>A p.Val450Met Missense 1/1 -
21-38444881-G-A PIGP c.7C>T p.Pro3Ser Missense 1/4 -
19-49376665-G-A PPP1R15A c.175G>A p.Gly59Ser Missense 2/3 -
15-90171613-C-G KIF7 c.*37G>C - 3-UTRSNV 19/19 -
15-90171613-C-T KIF7 c.*37G>A - 3-UTRSNV 19/19 -
2-85769711-C-T MAT2A c.792C>T p.Arg264Arg Synonymous 7/9 -
2-85769711-C-G MAT2A c.792C>G p.Arg264Arg Synonymous 7/9 -
17-59934481-C-T BRIP1 c.317G>A p.Arg106His Missense 4/20 -
20-32588095-T-C RALY c.-93+6158T>C - intron_variant - 1/8
20-32588095-T-G RALY c.-93+6158T>G - intron_variant - 1/8
11-108142070-A-G ATM c.3014A>G p.Asn1005Ser Missense 20/63 -
19-18724695-G-A TMEM59L c.185G>A p.Gly62Asp Missense 2/8 -
1-154458497-C-T SHE c.1223G>A p.Arg408Gln Missense 5/6 -
1-182551329-G-T RNASEL c.1631C>A p.Ala544Asp Missense 4/7 -
12-52938320-C-T KRT71 c.1568G>A p.Arg523Gln Missense 9/9 -
19-18546125-C-G ISYNA1 c.1423G>C p.Val475Leu Missense 10/11 -
10-28438930-G-A MPP7 c.215C>T p.Ala72Val Missense 6/19 -
9-124914671-G-A NDUFA8 c.68C>T p.Ala23Val Missense 2/4 -
19-42383351-G-A CD79A c.371G>A p.Arg124His Missense 2/5 -
5-72419402-G-A TMEM171 c.202G>A p.Val68Met Missense 2/4 -
5-72419402-G-C TMEM171 c.202G>C p.Val68Leu Missense 2/4 -
2-9637331-A-T ADAM17 c.1695T>A p.Thr565Thr Synonymous 14/19 -
2-9637331-A-G ADAM17 c.1695T>C p.Thr565Thr Synonymous 14/19 -
19-51159571-T-G C19orf81 c.229T>G p.Ser77Ala Missense 3/5 -
11-108186610-G-A ATM c.6067G>A p.Gly2023Arg Missense 41/63 -
21-35880072-G-T KCNE1 c.-162+3327C>A - intron_variant - 2/3
19-17081707-G-T CPAMD8 c.2207C>A - missense_variant 18/42 -
4-84227441-C-A HPSE c.1121G>T p.Arg374Leu Missense 10/13 -
4-84227441-C-T HPSE c.1121G>A p.Arg374Gln Missense 10/13 -
2-238820379-C-T RAMP1 c.401C>T p.Thr134Met Missense 3/3 -
6-31540556-T-C LTA c.37T>C p.Cys13Arg Missense 2/4 -
14-22133463-A-G OR4E2 c.167A>G p.His56Arg Missense 1/1 -
15-74229065-G-A LOXL1 c.1103-6130G>A - IntronicSNV - 1/6
9-119976883-A-T ASTN2 c.769T>A p.Ser257Thr Missense 3/22 -
5-160042905-T-C ATP10B c.2593A>G p.Asn865Asp Missense 17/26 -
2-238289917-C-T COL6A3 c.1538G>A p.Arg513Gln Missense 5/44 -
20-61477034-G-A TCFL5 c.1381-3585C>T - IntronicSNV - 5/5
22-29130520-C-T CHEK2 c.190G>A p.Glu64Lys Missense 2/16 -
9-32424659-C-A ACO1 c.1184C>A p.Ala395Asp Missense 10/21 -
1-229594003-C-T NUP133 c.2885G>A p.Arg962His Missense 21/26 -
1-54476084-C-T LDLRAD1 c.341-1G>A - IntronicSNV - 4/5
17-41246092-A-G BRCA1 c.1456T>C p.Phe486Leu Missense 10/23 -
17-41246092-A-T BRCA1 c.1456T>A p.Phe486Ile Missense 10/23 -
12-27849666-G-C REP15 c.171G>C p.Glu57Asp Missense 1/1 -
13-32912007-C-T BRCA2 c.3515C>T p.Ser1172Leu Missense 11/27 -
13-32912007-C-G BRCA2 c.3515C>G p.Ser1172Trp Missense 11/27 -
13-32912007-C-A BRCA2 c.3515C>A p.Ser1172* Nonsense 11/27 -
12-53700853-G-A C12orf10 c.1051G>A p.Gly351Ser Missense 7/7 -
14-74535660-G-A ALDH6A1 c.716C>T p.Pro239Leu Missense 7/12 -
1-204159701-G-T KISS1 c.328C>A p.Pro110Thr Missense 3/3 -
11-104878019-A-C CASP5 c.224T>G p.Leu75Arg Missense 3/10 -
11-5968728-T-C OR56A3 c.152T>C p.Met51Thr Missense 1/1 -
1-159842779-C-T CFAP45 c.1532G>A p.Arg511His Missense 11/12 -
11-65147373-C-T SLC25A45 c.118G>A p.Val40Ile Missense 4/7 -
4-95562877-C-T PDLIM5 c.956+1276C>T - IntronicSNV - 9/12
2-113819725-A-G IL36RN c.140A>G p.Asn47Ser Missense 4/5 -
5-141029036-G-A FCHSD1 c.301C>T p.Leu101Phe Missense 5/20 -
17-59668229-C-G NACA2 c.313G>C p.Val105Leu Missense 1/1 -
13-32914132-T-G BRCA2 c.5640T>G p.Asn1880Lys Missense 11/27 -
12-113603678-G-T DDX54 c.1574C>A p.Ala525Glu Missense 13/20 -
20-62505153-G-A TPD52L2 c.223G>A p.Val75Met Missense 3/7 -
11-111156719-T-C C11orf53 c.807T>C - synonymous_variant 5/5 -
19-13249098-G-A NACC1 c.1462G>A p.Ala488Thr Missense 6/6 -
2-113819725-A-T IL36RN c.140A>T p.Asn47Ile Missense 4/5 -
20-62172639-G-A SRMS c.1190C>T p.Ala397Val Missense 7/8 -
12-113603678-G-A DDX54 c.1574C>T p.Ala525Val Missense 13/20 -
3-14180693-G-C TMEM43 c.896G>C p.Arg299Thr Missense 11/12 -
16-53855291-A-T FTO c.124-4485A>T - IntronicSNV - 2/8
19-17534560-C-T MVB12A c.592C>T p.Arg198Trp Missense 6/9 -
9-18928963-G-A SAXO1 c.512C>T p.Thr171Ile Missense 4/4 -
16-23649446-T-C PALB2 c.53A>G p.Lys18Arg Missense 2/13 -
12-52841075-C-T KRT6B c.1594G>A p.Gly532Ser Missense 9/9 -
1-170965700-G-A MROH9 c.1390G>A p.Val464Met Missense 14/15 -
11-108115601-G-A ATM c.749G>A p.Arg250Gln Missense 7/63 -
6-41250466-T-A TREM1 c.73A>T p.Thr25Ser Missense 2/4 -
3-102157417-A-C ZPLD1 c.134A>C p.Asn45Thr Missense 2/11 -
1-183938537-G-C COLGALT2 c.698C>G p.Pro233Arg Missense 5/12 -
19-14083761-T-C RFX1 c.1108A>G p.Thr370Ala Missense 9/21 -
13-32910812-A-G BRCA2 c.2320A>G p.Thr774Ala Missense 11/27 -
17-76497940-C-T DNAH17 c.5206G>A p.Val1736Ile Missense 34/81 -
11-68701997-A-G IGHMBP2 c.1603A>G p.Ile535Val Missense 11/15 -
14-69341650-C-A ACTN1 c.2605G>T p.Gly869Cys Missense 21/21 -
6-149903597-A-G GINM1 c.739A>G p.Lys247Glu Missense 7/8 -
12-49498284-T-G LMBR1L c.382A>C p.Met128Leu Missense 5/17 -
22-41223206-T-C ST13 c.875A>G p.Asn292Ser Missense 11/12 -
14-69341650-C-T ACTN1 c.2605G>A p.Gly869Ser Missense 21/21 -
2-239056525-AG-CC KLHL30 c.1201_1202delAGinsCC p.Ser401Pro Missense 6/8 -
1-230822832-C-G COG2 c.1532C>G p.Thr511Ser Missense 13/18 -
17-56389516-C-T TSPOAP1 c.2666G>A p.Arg889Gln Missense 17/32 -
8-55540418-G-C RP1 c.3976G>C p.Ala1326Pro Missense 4/4 -
6-30711805-C-G IER3 c.379G>C p.Ala127Pro Missense 2/2 -
6-30882513-A-G VARS2 c.1-101A>G - IntronicSNV - 1/29
17-62291105-G-A TEX2 c.473C>T p.Thr158Ile Missense 2/12 -
17-41246411-A-C BRCA1 c.1137T>G p.Ile379Met Missense 10/23 -
6-160448315-C-G IGF2R c.745C>G p.Arg249Gly Missense 6/48 -
6-160448315-C-T IGF2R c.745C>T p.Arg249Trp Missense 6/48 -
X-37027276-A-T FAM47C c.793A>T p.Thr265Ser Missense 1/1 -
X-37027276-A-G FAM47C c.793A>G p.Thr265Ala Missense 1/1 -
10-61833684-C-T ANK3 c.6955G>A p.Asp2319Asn Missense 37/44 -
17-62291105-G-C TEX2 c.473C>G p.Thr158Ser Missense 2/12 -
5-140604011-A-T PCDHB14 c.934A>T p.Ile312Leu Missense 1/1 -
1-182554708-G-A RNASEL c.1234C>T p.Arg412* Nonsense 2/7 -
1-182554708-G-C RNASEL c.1234C>G p.Arg412Gly Missense 2/7 -
17-41246812-A-C BRCA1 c.736T>G p.Leu246Val Missense 10/23 -
13-32914196-G-A BRCA2 c.5704G>A p.Asp1902Asn Missense 11/27 -
20-33711831-T-C EDEM2 c.976A>G p.Ile326Val Missense 9/11 -
11-68562300-C-T CPT1A c.851G>A p.Arg284His Missense 8/19 -
19-17452053-C-T GTPBP3 c.1175C>T p.Pro392Leu Missense 8/9 -
19-17452053-C-G GTPBP3 c.1175C>G p.Pro392Arg Missense 8/9 -
6-31085286-C-T CDSN c.106G>A p.Gly36Ser Missense 2/2 -
13-32900279-A-G BRCA2 c.467A>G p.Asp156Gly Missense 5/27 -
13-32900279-A-T BRCA2 c.467A>T p.Asp156Val Missense 5/27 -
17-15341322-G-A TVP23C-CDRT4 c.*241C>T - 3_prime_UTR_variant 7/7 -
12-101738482-G-T UTP20 c.4559G>T p.Arg1520Leu Missense 36/62 -
18-11752462-G-T GNAL c.377-390G>T - IntronicSNV - 1/11
18-11752462-G-C GNAL c.377-390G>C - IntronicSNV - 1/11
12-52779008-C-T KRT84 c.362G>A p.Gly121Asp Missense 1/9 -
19-18391390-G-A JUND c.905C>T p.Thr302Ile Missense 1/1 -
19-1221319-C-A STK11 c.842C>A p.Pro281Gln Missense 6/10 -
19-1221319-C-T STK11 c.842C>T p.Pro281Leu Missense 6/10 -
X-12419996-G-T FRMPD4 c.42-96803G>T - IntronicSNV - 1/16
2-103066858-A-T IL18RAP c.1211-450A>T - IntronicSNV - 10/11
2-103066858-A-G IL18RAP c.1211-450A>G - IntronicSNV - 10/11
7-122202593-C-G CADPS2 c.1336-7850G>C - IntronicSNV - 7/29
13-32929007-G-C BRCA2 c.7017G>C p.Lys2339Asn Missense 14/27 -
5-131930642-C-G RAD50 c.1875C>G p.Tyr625* Nonsense 12/25 -
16-72130103-C-G DHX38 c.47C>G p.Thr16Ser Missense 2/27 -
1-203455902-A-C PRELP c.1042A>C p.Asn348His Missense 3/3 -
5-131915673-G-A RAD50 c.671G>A p.Arg224His Missense 5/25 -
6-32948385-G-A BRD2 c.2296G>A p.Ala766Thr Missense 13/13 -
10-82331296-G-T SH2D4B c.310G>T p.Ala104Ser Missense 3/7 -
4-186111639-T-C CFAP97 c.712A>G p.Thr238Ala Missense 2/5 -
7-21469680-A-T SP4 c.897A>T p.Gln299His Missense 3/6 -
7-21469680-A-G SP4 c.897A>G p.Gln299Gln Synonymous 3/6 -
6-41536427-C-T FOXP4 c.204+2725C>T - IntronicSNV - 2/16
10-75156284-G-T ANXA7 c.428C>A p.Pro143His Missense 5/13 -
11-36119939-A-G LDLRAD3 c.382A>G p.Lys128Glu Missense 4/6 -
16-53825488-C-T FTO c.46-18564C>T - IntronicSNV - 1/8
16-67919696-G-A NRN1L c.151G>A p.Glu51Lys Missense 2/3 -
2-173339808-G-A ITGA6 c.1138G>A p.Ala380Thr Missense 7/26 -
13-32907238-A-T BRCA2 c.1623A>T p.Glu541Asp Missense 10/27 -
11-2869129-G-T KCNQ1 c.1927G>T p.Gly643Cys Missense 16/16 -
13-32914196-G-T BRCA2 c.5704G>T p.Asp1902Tyr Missense 11/27 -
6-32155917-G-A PBX2 c.560C>T p.Thr187Met Missense 4/9 -
6-167343185-G-C RNASET2 c.662C>G p.Ser221Cys Missense 9/9 -
6-167343185-G-T RNASET2 c.662C>A p.Ser221Tyr Missense 9/9 -
11-108098561-A-G ATM c.131A>G p.Asp44Gly Missense 3/63 -
10-75565704-C-T NDST2 c.1517G>A p.Arg506Gln Missense 7/15 -
22-29835141-C-T RFPL1 c.361C>T p.Arg121Trp Missense 1/2 -
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
19-16973224-G-A SIN3B c.1120G>A p.Ala374Thr Missense 9/20 -
1-171486912-G-A PRRC2C c.703G>A p.Ala235Thr Missense 6/34 -
4-187122332-G-A CYP4V2 c.823G>A p.Glu275Lys Missense 7/11 -
3-30875374-A-G GADL1 c.1021T>C p.Cys341Arg Missense 11/15 -
17-59924505-A-G BRIP1 c.584T>C p.Leu195Pro Missense 6/20 -
11-66335308-T-C CTSF c.312+147A>G - IntronicSNV - 2/12
13-32900279-A-C BRCA2 c.467A>C p.Asp156Ala Missense 5/27 -
6-119399385-G-T FAM184A c.80C>A p.Ala27Glu Missense 1/18 -
2-242204015-T-C HDLBP c.82A>G p.Thr28Ala Missense 4/28 -
1-75693501-G-A SLC44A5 c.895C>T p.Arg299Cys Missense 13/24 -
16-23646942-T-C PALB2 c.925A>G p.Ile309Val Missense 4/13 -
6-6266854-C-T F13A1 c.508G>A p.Val170Ile Missense 4/15 -
6-133105120-C-T SLC18B1 c.610G>A p.Val204Ile Missense 6/14 -
3-52731828-C-T GLT8D1 c.238G>A p.Ala80Thr Missense 4/10 -
3-113179497-C-A SPICE1 c.1402G>T p.Gly468* Nonsense 12/18 -
3-113179497-C-T SPICE1 c.1402G>A p.Gly468Arg Missense 12/18 -
2-176829117-G-C LNPK c.476C>G p.Thr159Ser Missense 8/13 -
14-53619084-C-T DDHD1 c.733G>A p.Glu245Lys Missense 1/13 -
7-134849280-T-C TMEM140 c.87T>C p.Phe29Phe Synonymous 2/2 -
21-37518706-G-A CBR3 c.730G>A p.Val244Met Missense 3/3 -
19-41884327-T-G TMEM91 c.113T>G p.Ile38Arg Missense 2/4 -
18-77171390-C-T NFATC1 c.1115C>T p.Ser372Phe Missense 2/8 -
18-77171390-C-A NFATC1 c.1115C>A p.Ser372Tyr Missense 2/8 -
5-131930649-A-G RAD50 c.1882A>G p.Lys628Glu Missense 12/25 -
1-204380232-T-C PPP1R15B c.308A>G p.Tyr103Cys Missense 1/2 -
2-20845183-C-T HS1BP3 c.115G>A p.Val39Met Missense 2/7 -
22-29095881-C-T CHEK2 c.1082G>A p.Arg361His Missense 10/16 -
22-29095881-C-A CHEK2 c.1082G>T p.Arg361Leu Missense 10/16 -
22-29095881-C-G CHEK2 c.1082G>C p.Arg361Pro Missense 10/16 -
3-4742276-A-G ITPR1 c.4464+651A>G - IntronicSNV - 34/57
2-120125058-C-T DBI c.1-103C>T - IntronicSNV - 1/4
2-120125058-C-G DBI c.1-103C>G - IntronicSNV - 1/4
12-95879687-A-G METAP2 c.358A>G p.Ile120Val Missense 4/11 -
1-155448415-A-G ASH1L c.4246T>C p.Ser1416Pro Missense 3/28 -
3-127441353-C-T MGLL c.319G>A p.Val107Ile Missense 4/8 -
6-41884544-C-T MED20 c.148G>A p.Ala50Thr Missense 2/4 -
6-41884544-C-A MED20 c.148G>T p.Ala50Ser Missense 2/4 -
19-1221319-C-G STK11 c.842C>G p.Pro281Arg Missense 6/10 -
3-38307398-G-A SLC22A13 c.47G>A p.Arg16His Missense 1/10 -
3-38307398-G-C SLC22A13 c.47G>C p.Arg16Pro Missense 1/10 -
22-40755001-G-T ADSL c.616G>T p.Ala206Ser Missense 5/13 -
22-40755001-G-A ADSL c.616G>A p.Ala206Thr Missense 5/13 -
17-45904542-C-T MRPL10 c.251G>A p.Arg84Gln Missense 3/5 -
12-53491511-C-G IGFBP6 c.10C>G p.His4Asp Missense 1/4 -
20-62326110-A-C RTEL1 c.3198A>C p.Gln1066His Missense 32/35 -
6-41617402-A-C MDFI c.305A>C p.Asn102Thr Missense 4/5 -
6-32814942-C-T TAP1 c.2123G>A p.Arg708Gln Missense 10/11 -
1-55464986-G-A BSND c.127G>A p.Val43Ile Missense 1/4 -
6-151914113-G-A CCDC170 c.1294-129G>A - IntronicSNV - 7/10
6-149795471-G-A ZC3H12D c.209C>T p.Ala70Val Missense 2/6 -
22-39813759-T-C TAB1 c.455T>C p.Leu152Pro Missense 5/11 -
1-212587320-T-C TMEM206 c.36+744A>G - IntronicSNV - 1/7
5-118969960-C-T FAM170A c.517C>T p.Pro173Ser Missense 3/5 -
8-55538687-C-T RP1 c.2245C>T p.Leu749Phe Missense 4/4 -
4-70460328-C-T UGT2A2 c.1198G>A p.Val400Ile Missense 5/6 -
8-55538687-C-G RP1 c.2245C>G p.Leu749Val Missense 4/4 -
2-173427009-G-A PDK1 c.400G>A p.Ala134Thr Missense 3/11 -
4-70460328-C-A UGT2A2 c.1198G>T p.Val400Phe Missense 5/6 -
5-1403128-G-A SLC6A3 c.1676C>T p.Ala559Val Missense 13/15 -
20-60908969-T-C LAMA5 c.2866A>G p.Thr956Ala Missense 23/80 -
11-108123551-C-T ATM c.1810C>T p.Pro604Ser Missense 12/63 -
5-175793395-G-C ARL10 c.196G>C p.Glu66Gln Missense 2/4 -
1-155176044-C-A THBS3 c.233G>T p.Arg78Leu Missense 2/23 -
16-81124216-T-C GCSH c.218A>G p.Asn73Ser Missense 2/5 -
1-155176044-C-T THBS3 c.233G>A p.Arg78His Missense 2/23 -
11-108160480-T-G ATM c.4388T>G p.Phe1463Cys Missense 29/63 -
1-202122865-C-G PTPN7 c.1020G>C p.Gln340His Missense 7/10 -
4-10527472-T-C CLNK c.724A>G p.Ile242Val Missense 14/19 -
3-113440653-T-C NAA50 c.464A>G p.Lys155Arg Missense 5/5 -
2-207631446-G-A FASTKD2 c.29G>A p.Ser10Asn Missense 2/12 -
2-207631446-G-C FASTKD2 c.29G>C p.Ser10Thr Missense 2/12 -
19-19017899-C-G COPE c.313G>C p.Asp105His Missense 4/10 -
11-76813968-G-A CAPN5 c.297+9109G>A - IntronicSNV - 3/12
13-32929309-A-C BRCA2 c.7319A>C p.His2440Pro Missense 14/27 -
16-81050965-A-T CENPN c.252A>T p.Glu84Asp Missense 4/7 -
3-128038373-C-A EEFSEC c.787-21703C>A - IntronicSNV - 4/6
19-44611656-G-A ZNF224 c.1343G>A p.Arg448His Missense 6/6 -
6-31513199-G-A ATP6V1G2 c.343C>T p.Arg115Trp Missense 3/3 -
19-17547292-A-G TMEM221 c.851T>C p.Met284Thr Missense 3/3 -
12-81528625-C-T ACSS3 c.487C>T p.His163Tyr Missense 3/16 -
17-12896274-C-T ELAC2 c.2222G>A p.Arg741His Missense 23/23 -
17-7290695-A-G TNK1 c.1398-2A>G - IntronicSNV - 9/12
19-8564474-G-T PRAM1 c.218C>A p.Pro73Gln Missense 2/10 -
14-69521637-C-T DCAF5 c.1766G>A p.Arg589His Missense 9/9 -
20-34572607-C-T CNBD2 c.623C>T p.Thr208Met Missense 6/12 -
2-182543455-T-C NEUROD1 c.133A>G p.Thr45Ala Missense 2/2 -
6-31118511-T-G CCHCR1 c.825A>C p.Glu275Asp Missense 6/18 -
12-52282460-C-A ANKRD33 c.254C>A p.Pro85Gln Missense 2/5 -
12-52282460-C-G ANKRD33 c.254C>G p.Pro85Arg Missense 2/5 -
X-100117807-T-C NOX1 c.340A>G p.Ile114Val Missense 5/13 -
19-51837487-C-T VSIG10L c.2377G>A p.Val793Ile Missense 8/10 -
12-1022569-A-C RAD52 c.1245T>G p.Tyr415* Nonsense 12/12 -
8-67505363-A-T MYBL1 c.754T>A p.Phe252Ile Missense 7/16 -
4-25849141-C-A SEL1L3 c.508G>T p.Ala170Ser Missense 2/24 -
3-169801858-T-A GPR160 c.98T>A p.Leu33His Missense 4/4 -
17-41244936-G-C BRCA1 c.2612C>G p.Pro871Arg Missense 10/23 -
17-41244936-G-T BRCA1 c.2612C>A p.Pro871Gln Missense 10/23 -
10-82331231-T-C SH2D4B c.245T>C p.Leu82Pro Missense 3/7 -
13-32907238-A-C BRCA2 c.1623A>C p.Glu541Asp Missense 10/27 -
21-33285300-G-A HUNK c.262-11480G>A - IntronicSNV - 1/10
11-108160350-C-T ATM c.4258C>T p.Leu1420Phe Missense 29/63 -
20-61878950-A-C NKAIN4 c.451T>G p.Cys151Gly Missense 4/7 -
20-61878950-A-T NKAIN4 c.451T>A p.Cys151Ser Missense 4/7 -
6-151673413-G-C AKAP12 c.3887G>C p.Arg1296Pro Missense 4/5 -
8-16032710-A-G MSR1 c.203T>C p.Ile68Thr Missense 3/9 -
11-2869129-G-A KCNQ1 c.1927G>A p.Gly643Ser Missense 16/16 -
20-62187395-G-C FNDC11 c.379G>C p.Gly127Arg Missense 2/2 -
2-10262920-T-G RRM2 c.1-6T>G - 5-UTRSNV 1/10 -
1-247471846-G-A ZNF496 c.937C>T p.Arg313Cys Missense 9/10 -
17-72366770-G-A GPR142 c.469G>A p.Val157Ile Missense 3/4 -
6-31614286-G-A BAG6 c.803C>T p.Ala268Val Missense 8/25 -
2-238672523-G-A LRRFIP1 c.2095G>A p.Ala699Thr Missense 10/10 -
19-44570393-C-G ZNF223 c.412C>G p.Leu138Val Missense 5/5 -
6-153323570-A-C MTRF1L c.251T>G p.Leu84Trp Missense 1/7 -
7-143632983-C-T OR2F2 c.658C>T p.Arg220Trp Missense 1/1 -
2-43937393-T-C PLEKHH2 c.2138T>C p.Met713Thr Missense 13/30 -
18-10487749-C-T APCDD1 c.1259C>T p.Thr420Met Missense 5/5 -
18-10487749-C-A APCDD1 c.1259C>A p.Thr420Lys Missense 5/5 -
12-110342598-G-A TCHP c.456G>A p.Glu152Glu Synonymous 4/13 -
11-2185608-C-T TH c.1349G>A p.Arg450His Missense 13/13 -
19-51607507-G-A CTU1 c.320C>T p.Ala107Val Missense 2/3 -
6-41889553-C-T BYSL c.253C>T p.Arg85Cys Missense 1/7 -
17-41249297-G-A BRCA1 c.557C>T p.Ser186Phe Missense 8/23 -
17-41249297-G-T BRCA1 c.557C>A p.Ser186Tyr Missense 8/23 -
7-97875349-C-T TECPR1 c.110G>A p.Arg37His Missense 3/26 -
9-110249590-G-C KLF4 c.1085C>G p.Pro362Arg Missense 3/5 -
1-204128567-C-T REN c.649G>A p.Gly217Arg Missense 5/10 -
17-48068913-C-A DLX3 c.832G>T p.Gly278Trp Missense 3/3 -
13-42259195-T-G VWA8 c.4315A>C p.Ile1439Leu Missense 35/45 -
20-60866804-A-C OSBPL2 c.1259A>C p.Glu420Ala Missense 13/14 -
6-31912523-T-C C2 c.1922T>C p.Val641Ala Missense 16/18 -
11-108124761-T-C ATM c.2119T>C p.Ser707Pro Missense 13/63 -
22-43520105-C-T BIK c.77C>T p.Thr26Ile Missense 2/5 -
20-39797465-T-C PLCG1 c.2438T>C p.Ile813Thr Missense 21/32 -
6-33653486-G-A ITPR3 c.5549G>A p.Arg1850Gln Missense 41/58 -
8-32621630-C-T NRG1 c.1534C>T p.Arg512Trp Missense 12/12 -
3-148575278-C-T CPB1 c.1016C>T p.Ala339Val Missense 10/11 -
6-13711281-G-C RANBP9 c.457C>G p.Arg153Gly Missense 1/14 -
6-13711281-G-A RANBP9 c.457C>T p.Arg153Cys Missense 1/14 -
10-72298745-C-T PALD1 c.1550C>T p.Thr517Met Missense 13/20 -
16-53504536-A-T RBL2 c.2487A>T p.Arg829Ser Missense 16/22 -
8-16032808-A-T MSR1 c.105T>A p.Asn35Lys Missense 3/9 -
5-16676247-G-A MYO10 c.4559C>T p.Ser1520Leu Missense 34/41 -
5-131930678-T-A RAD50 c.1911T>A p.Asp637Glu Missense 12/25 -
13-32937521-G-A BRCA2 c.8182G>A p.Val2728Ile Missense 18/27 -
13-32937521-G-C BRCA2 c.8182G>C p.Val2728Leu Missense 18/27 -
3-186296304-A-G DNAJB11 c.456+715A>G - IntronicSNV - 4/9
19-44570393-C-A ZNF223 c.412C>A p.Leu138Ile Missense 5/5 -
12-121592689-T-C P2RX7 c.227T>C p.Val76Ala Missense 2/13 -
4-175649798-C-T GLRA3 c.319G>A p.Ala107Thr Missense 4/9 -
13-32914815-G-T BRCA2 c.6323G>T p.Arg2108Leu Missense 11/27 -
13-32914815-G-A BRCA2 c.6323G>A p.Arg2108His Missense 11/27 -
17-34191290-C-T HEATR9 c.527G>A p.Arg176His Missense 6/15 -
17-34191290-C-G HEATR9 c.527G>C p.Arg176Pro Missense 6/15 -
19-44377669-G-A ZNF404 c.697C>T p.His233Tyr Missense 3/3 -
11-107675467-C-T SLC35F2 c.761G>A p.Ser254Asn Missense 6/8 -
17-41226423-C-T BRCA1 c.4600G>A p.Val1534Met Missense 14/23 -
19-49368843-T-C PLEKHA4 c.109A>G p.Ile37Val Missense 3/17 -
X-51076079-G-C NUDT10 c.262G>C p.Asp88His Missense 2/3 -
9-139925983-G-A FUT7 c.208C>T p.Arg70Cys Missense 2/2 -
12-132322812-C-T MMP17 c.232C>T p.Leu78Leu Synonymous 2/10 -
16-71570847-G-A CHST4 c.267G>A p.Met89Ile Missense 2/2 -
10-122649483-A-G WDR11 c.2305A>G p.Met769Val Missense 18/29 -
10-122649483-A-C WDR11 c.2305A>C p.Met769Leu Missense 18/29 -
12-100775956-T-C SLC17A8 c.354+1225T>C - IntronicSNV - 2/11
11-69462910-G-A CCND1 c.723G>A p.Pro241Pro Synonymous 4/5 -
1-114301286-T-C PHTF1 c.40A>G p.Lys14Glu Missense 1/18 -
22-43471508-T-C TTLL1 c.85A>G p.Thr29Ala Missense 3/11 -
18-5397205-G-C EPB41L3 c.2693C>G p.Thr898Arg Missense 18/23 -
18-5397205-G-A EPB41L3 c.2693C>T p.Thr898Met Missense 18/23 -
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
9-35740902-C-T GBA2 c.946G>A p.Gly316Arg Missense 5/17 -
11-108168053-A-C ATM c.4949A>C p.Asn1650Thr Missense 33/63 -
11-17809762-T-G SERGEF c.1247A>C p.Tyr416Ser Missense 11/11 -
11-17809762-T-C SERGEF c.1247A>G p.Tyr416Cys Missense 11/11 -
6-41766425-T-G USP49 c.1913A>C p.Glu638Ala Missense 7/7 -
1-182554725-G-A RNASEL c.1217C>T p.Ser406Phe Missense 2/7 -
5-58337481-T-G PDE4D c.809-2683A>C - IntronicSNV - 5/14
5-35065328-C-T PRLR c.1732G>A p.Glu578Lys Missense 10/10 -
22-46615880-T-A PPARA c.680T>A p.Val227Asp Missense 6/8 -
13-32914277-A-G BRCA2 c.5785A>G p.Ile1929Val Missense 11/27 -
2-207173160-C-T ZDBF2 c.3908C>T p.Ala1303Val Missense 5/5 -
17-59793412-G-A BRIP1 c.2392C>T p.Arg798* Nonsense 17/20 -
19-50921137-G-T POLD1 c.3257G>T p.Arg1086Leu Missense 27/27 -
13-32906593-C-T BRCA2 c.978C>T p.Ser326Ser Synonymous 10/27 -
13-32906593-C-G BRCA2 c.978C>G p.Ser326Arg Missense 10/27 -
11-102736642-T-G MMP12 c.1067A>C - missense_variant 9/11 -
11-102736642-T-C MMP12 c.1067A>G - missense_variant 9/11 -
6-31105891-A-T PSORS1C1 c.14-316A>T - IntronicSNV - 3/5
2-172935641-T-C METAP1D c.547T>C p.Tyr183His Missense 6/10 -
22-40415968-G-T FAM83F c.735G>T p.Arg245Ser Missense 3/5 -
11-108122592-C-G ATM c.1636C>G p.Leu546Val Missense 11/63 -
11-8876852-C-T ST5 c.-155-15955G>A - intron_variant - 2/22
11-108200946-C-G ATM c.7313C>G p.Thr2438Arg Missense 50/63 -
11-108200946-C-T ATM c.7313C>T p.Thr2438Ile Missense 50/63 -
17-38418816-C-T WIPF2 c.236C>T p.Ala79Val Missense 4/8 -
22-47091143-A-C CERK c.1013T>G p.Val338Gly Missense 9/13 -
13-32910456-C-A BRCA2 c.1964C>A p.Pro655Gln Missense 11/27 -
13-32910456-C-G BRCA2 c.1964C>G p.Pro655Arg Missense 11/27 -
13-32911419-C-T BRCA2 c.2927C>T p.Ser976Phe Missense 11/27 -
13-32910456-C-T BRCA2 c.1964C>T p.Pro655Leu Missense 11/27 -
17-47007872-T-C SNF8 c.742A>G p.Ile248Val Missense 8/8 -
1-204394056-C-T PIK3C2B c.4829G>A p.Arg1610His Missense 34/34 -
13-114507886-C-T TMEM255B c.698C>T p.Pro233Leu Missense 8/9 -
1-201786330-G-A NAV1 c.5455G>A p.Val1819Met Missense 29/30 -
12-95914962-T-C USP44 c.1750A>G p.Asn584Asp Missense 5/6 -
8-75757392-C-T PI15 c.422C>T p.Pro141Leu Missense 4/6 -
2-239049718-G-A KLHL30 c.323G>A p.Arg108His Missense 2/8 -
X-10094215-G-A WWC3 c.1975G>A p.Ala659Thr Missense 15/23 -
3-367705-A-G CHL1 c.155A>G p.Tyr52Cys Missense 4/28 -
18-31328519-C-T ASXL3 c.*1960C>T - IntergenicSNV 12/12 -
6-30993635-A-G MUC22 c.427A>G p.Ile143Val Missense 3/5 -
11-102495959-G-A MMP20 c.92C>T p.Pro31Leu Missense 1/10 -
16-23646530-T-A PALB2 c.1337A>T p.Asp446Val Missense 4/13 -
16-23646530-T-C PALB2 c.1337A>G p.Asp446Gly Missense 4/13 -
10-81318680-C-T SFTPA2 c.254G>A p.Arg85His Missense 4/6 -
10-81318680-C-G SFTPA2 c.254G>C p.Arg85Pro Missense 4/6 -
19-42364912-A-G RPS19 c.68A>G p.Lys23Arg Missense 2/6 -
1-114523753-G-T OLFML3 c.583G>T p.Ala195Ser Missense 3/3 -
6-31604044-T-G PRRC2A c.5683T>G p.Leu1895Val Missense 26/31 -
14-61180657-T-G SIX4 c.1814A>C p.His605Pro Missense 3/3 -
6-32050061-C-T TNXB c.3488G>A p.Gly1163Glu Missense 9/44 -
16-840599-C-A CHTF18 c.827C>A p.Ala276Asp Missense 7/22 -
16-840599-C-T CHTF18 c.827C>T p.Ala276Val Missense 7/22 -
8-16032791-G-C MSR1 c.122C>G p.Ser41Cys Missense 3/9 -
8-16032791-G-T MSR1 c.122C>A p.Ser41Tyr Missense 3/9 -
1-155162050-C-A MUC1 c.83G>T p.Ser28Ile Missense 2/8 -
1-154573718-C-T ADAR c.1400G>A p.Arg467His Missense 2/15 -
17-59763347-A-G BRIP1 c.2755T>C p.Ser919Pro Missense 19/20 -
6-31778195-G-A HSPA1L c.1555C>T p.Arg519Cys Missense 2/2 -
10-81058336-A-G ZMIZ1 c.1665A>G p.Pro555Pro Synonymous 15/25 -
6-31918154-A-G CFB c.1598A>G p.Lys533Arg Missense 12/18 -
12-4737736-G-A AKAP3 c.332C>T p.Pro111Leu Missense 5/6 -
22-36876729-T-G TXN2 c.156A>C p.Ile52Ile Synonymous 2/4 -
2-85629000-G-A CAPG c.104C>T p.Ala35Val Missense 3/10 -
10-126696872-T-C CTBP2 c.59-4811A>G - IntronicSNV - 3/10
7-51096992-G-A COBL c.1801C>T p.His601Tyr Missense 10/13 -
17-41226488-C-A BRCA1 c.4535G>T p.Ser1512Ile Missense 14/23 -
2-172931008-G-A METAP1D c.514G>A p.Gly172Arg Missense 5/10 -
15-51763587-G-C DMXL2 c.7222C>G p.Leu2408Val Missense 29/43 -
13-113530199-G-A ATP11A c.3271G>A p.Val1091Ile Missense 28/30 -
22-29121087-A-C CHEK2 c.599T>G p.Ile200Ser Missense 5/16 -
22-29121087-A-G CHEK2 c.599T>C p.Ile200Thr Missense 5/16 -
13-111294796-C-T CARS2 c.1489G>A p.Val497Ile Missense 14/15 -
2-20512016-C-G PUM2 c.329G>C p.Arg110Pro Missense 4/21 -
11-5411122-C-T OR51M1 c.494C>T p.Pro165Leu Missense 1/1 -
17-58233974-A-G CA4 c.166A>G p.Ile56Val Missense 3/8 -
11-68853389-A-C TPCN2 c.1994A>C p.Tyr665Ser Missense 22/25 -
11-68853389-A-G TPCN2 c.1994A>G p.Tyr665Cys Missense 22/25 -
8-16035394-C-A MSR1 c.103+1G>T - IntronicSNV - 2/8
8-16035394-C-G MSR1 c.103+1G>C - IntronicSNV - 2/8
8-16035394-C-T MSR1 c.103+1G>A - IntronicSNV - 2/8
6-30656509-G-A NRM c.736C>T p.Arg246Cys Missense 4/4 -
13-32912361-G-T BRCA2 c.3869G>T p.Cys1290Phe Missense 11/27 -
13-32912361-G-A BRCA2 c.3869G>A p.Cys1290Tyr Missense 11/27 -
17-72613389-C-T CD300E c.256G>A p.Ala86Thr Missense 2/4 -
2-85573188-C-T RETSAT c.1027G>A p.Val343Met Missense 6/11 -
12-49460450-A-G RHEBL1 c.227T>C p.Ile76Thr Missense 4/8 -
22-36876729-T-C TXN2 c.156A>G p.Ile52Met Missense 2/4 -
15-65321780-A-T MTFMT c.172T>A p.Phe58Ile Missense 1/9 -
1-153934820-C-T SLC39A1 c.194G>A p.Arg65His Missense 4/5 -
12-49310831-A-G CCDC65 c.549A>G p.Ile183Met Missense 4/8 -
2-101591304-A-G NPAS2 c.1180A>G p.Thr394Ala Missense 13/21 -
11-36596427-C-T RAG1 c.1573C>T p.Pro525Ser Missense 2/2 -
8-29202959-G-A DUSP4 c.433+4404C>T - IntronicSNV - 1/3
8-29202959-G-T DUSP4 c.433+4404C>A - IntronicSNV - 1/3
17-7846836-A-T CNTROB c.1439A>T p.His480Leu Missense 10/19 -
15-90190186-G-A KIF7 c.1663C>T p.Pro555Ser Missense 7/19 -
20-43851523-G-C SEMG2 c.1250G>C p.Arg417Pro Missense 2/3 -
11-108198400-C-A ATM c.7004C>A p.Thr2335Lys Missense 48/63 -
4-47427873-C-T GABRB1 c.1263C>T p.His421His Synonymous 9/9 -
4-47427873-C-G GABRB1 c.1263C>G p.His421Gln Missense 9/9 -
20-32251396-A-T NECAB3 c.388-3195T>A - IntronicSNV - 5/12
11-2426793-C-T TRPM5 c.3355G>A p.Val1119Met Missense 23/24 -
10-75135891-C-G ANXA7 c.1363G>C p.Asp455His Missense 13/13 -
17-12896212-C-T ELAC2 c.2284G>A p.Gly762Ser Missense 23/23 -
1-186313108-C-T TPR c.3532G>A p.Val1178Ile Missense 26/51 -
16-58552349-G-C SETD6 c.946G>C p.Asp316His Missense 8/9 -
16-58552349-G-A SETD6 c.946G>A p.Asp316Asn Missense 8/9 -
13-32930633-C-T BRCA2 c.7504C>T p.Arg2502Cys Missense 15/27 -
13-32912679-A-G BRCA2 c.4187A>G p.Gln1396Arg Missense 11/27 -
14-102391577-G-C PPP2R5C c.1543G>C p.Ala515Pro Missense 14/14 -
1-154834183-G-A KCNN3 c.933+7325C>T - IntronicSNV - 1/7
11-2192927-C-T TH c.90G>A p.Met30Ile Missense 1/13 -
2-202074086-A-C CASP10 c.1216A>C p.Ile406Leu Missense 9/10 -
2-202074086-A-T CASP10 c.1216A>T p.Ile406Leu Missense 9/10 -
14-37132769-G-A PAX9 c.631+41G>A - IntronicSNV - 3/4
16-19471571-G-A TMC5 c.325G>A p.Ala109Thr Missense 2/18 -
1-202573729-C-T SYT2 c.199G>A p.Ala67Thr Missense 3/9 -
6-109700847-T-C CD164 c.194A>G p.Asn65Ser Missense 2/6 -
17-8046147-C-T PER1 c.3079G>A p.Val1027Ile Missense 20/23 -
17-8046147-C-G PER1 c.3079G>C p.Val1027Leu Missense 20/23 -
12-53242695-C-T KRT78 c.20G>A p.Arg7Gln Missense 1/9 -
22-25010855-A-G GGT1 c.277A>G p.Ile93Val Missense 6/16 -
11-129306648-T-C BARX2 c.190T>C p.Ser64Pro Missense 2/4 -
11-65167232-G-C FRMD8 c.829G>C p.Asp277His Missense 8/11 -
17-7402600-T-C POLR2A c.1461T>C p.Ser487Ser Synonymous 10/29 -
11-551741-C-T LRRC56 c.887C>T p.Ser296Phe Missense 10/14 -
11-551741-C-A LRRC56 c.887C>A p.Ser296Tyr Missense 10/14 -
10-31810679-A-G ZEB1 c.2416A>G p.Thr806Ala Missense 7/9 -
9-116132334-C-T BSPRY c.1121C>T p.Thr374Ile Missense 6/6 -
7-73971995-A-G GTF2IRD1 c.2095A>G p.Ile699Val Missense 20/27 -
1-220180562-T-G EPRS c.1724A>C p.Asn575Thr Missense 14/32 -
1-220180562-T-C EPRS c.1724A>G p.Asn575Ser Missense 14/32 -
22-29881797-A-G NEFH c.1169A>G p.Asn390Ser Missense 3/4 -
11-1084362-G-A MUC2 c.2494G>A p.Gly832Ser Missense 19/51 -
3-57902766-A-T SLMAP c.2170A>T p.Ser724Cys Missense 19/21 -
7-97911717-G-C BRI3 c.197G>C p.Arg66Pro Missense 2/3 -
7-97911717-G-A BRI3 c.197G>A p.Arg66His Missense 2/3 -
10-24813550-G-A KIAA1217 c.2755G>A p.Val919Ile Missense 13/21 -
16-69458591-C-A CYB5B c.5C>A p.Ser2Tyr Missense 1/5 -
3-141102833-G-A ZBTB38 c.-417+2504G>A - intron_variant - 4/7
2-166032837-G-A SCN3A c.68C>T p.Ala23Val Missense 3/28 -
20-18122912-C-A PET117 c.157C>A p.Arg53Ser Missense 2/2 -
20-18122912-C-T PET117 c.157C>T p.Arg53Cys Missense 2/2 -
12-53491511-C-A IGFBP6 c.10C>A p.His4Asn Missense 1/4 -
12-53491511-C-T IGFBP6 c.10C>T p.His4Tyr Missense 1/4 -
8-22972282-A-G TNFRSF10C c.279A>G p.Ser93Ser Synonymous 3/5 -
6-154411240-T-C OPRM1 c.570T>C p.Asn190Asn Synonymous 2/4 -
5-131953850-A-G RAD50 c.3253A>G p.Ile1085Val Missense 21/25 -
6-32117456-G-C PRRT1 c.602C>G p.Thr201Ser Missense 3/4 -
13-32930673-C-T BRCA2 c.7544C>T p.Thr2515Ile Missense 15/27 -
1-248059423-C-T OR2W3 c.535C>T p.Arg179Cys Missense 1/1 -
20-51722623-G-T TSHZ2 c.40+132751G>T - IntronicSNV - 1/2
3-113672879-G-A ZDHHC23 c.494G>A p.Arg165His Missense 3/6 -
16-80577210-A-G DYNLRB2 c.41A>G p.His14Arg Missense 2/4 -
1-182550418-C-G RNASEL c.1847G>C p.Arg616Thr Missense 5/7 -
2-242038985-G-A MTERF4 c.346C>T p.Arg116Trp Missense 2/4 -
18-28713994-A-C DSC1 c.1976T>G p.Met659Arg Missense 13/17 -
2-19553104-T-G OSR1 c.463A>C p.Lys155Gln Missense 2/3 -
13-32910403-T-C BRCA2 c.1911T>C p.Gly637Gly Synonymous 11/27 -
12-14993439-C-T ART4 c.793G>A p.Asp265Asn Missense 2/3 -
3-193332564-C-G OPA1 c.85C>G p.Pro29Ala Missense 2/31 -
13-32972884-A-G BRCA2 c.10234A>G p.Ile3412Val Missense 27/27 -
6-30954837-T-G MUC21 c.885T>G p.Ser295Arg Missense 2/3 -
3-5229499-G-C EDEM1 c.9G>C p.Trp3Cys Missense 1/12 -
4-125593261-T-C ANKRD50 c.1171A>G p.Ile391Val Missense 4/5 -
6-30887344-T-C VARS2 c.1075-191T>C - IntronicSNV - 11/29
18-28713994-A-G DSC1 c.1976T>C p.Met659Thr Missense 13/17 -
19-17566634-T-A NXNL1 c.461A>T p.Glu154Val Missense 2/2 -
20-36989391-G-A LBP c.622G>A p.Asp208Asn Missense 6/15 -
2-43902848-C-A C1GALT1C1L c.614G>T p.Cys205Phe Missense 1/1 -
17-36486307-C-T GPR179 c.3145G>A p.Ala1049Thr Missense 11/11 -
5-169680139-G-A LCP2 c.1229C>T p.Ser410Phe Missense 18/21 -
14-53372330-T-G FERMT2 c.392-12185A>C - IntronicSNV - 3/14
11-57958038-C-T OR9Q2 c.76C>T p.Pro26Ser Missense 1/1 -
19-50985170-C-T EMC10 c.731C>T p.Ala244Val Missense 7/8 -
3-172835290-C-G SPATA16 c.232G>C p.Glu78Gln Missense 2/11 -
3-172835290-C-T SPATA16 c.232G>A p.Glu78Lys Missense 2/11 -
19-42342993-T-G LYPD4 c.173A>C p.Gln58Pro Missense 3/5 -
4-106320250-C-T PPA2 c.727G>A p.Val243Ile Missense 8/12 -
7-97369228-G-A TAC1 c.386G>A p.Arg129His Missense 7/7 -
12-53225239-C-A KRT79 c.649G>T p.Asp217Tyr Missense 2/9 -
4-74607328-A-G CXCL8 c.134A>G p.His45Arg Missense 2/4 -
13-32937526-G-A BRCA2 c.8187G>A p.Lys2729Lys Synonymous 18/27 -
19-41822457-C-T CCDC97 c.215C>T p.Ala72Val Missense 2/5 -
4-1725159-A-G TACC3 c.11A>G p.Gln4Arg Missense 2/16 -
2-175265912-T-C SCRN3 c.536T>C p.Val179Ala Missense 4/8 -
19-18710506-C-T CRLF1 c.266G>A p.Arg89His Missense 2/9 -
1-38032607-C-T GNL2 c.2045G>A p.Arg682Gln Missense 16/16 -
3-149485531-A-C ANKUB1 c.918T>G p.Ile306Met Missense 5/6 -
6-46684222-C-T PLA2G7 c.275G>A p.Arg92His Missense 4/12 -
6-46684222-C-A PLA2G7 c.275G>T p.Arg92Leu Missense 4/12 -
2-68613681-C-T PLEK c.520C>T p.Arg174Cys Missense 5/9 -
16-3639827-G-A SLX4 c.3812C>T p.Ser1271Phe Missense 12/15 -
5-173426709-G-T C5orf47 c.418G>T p.Val140Leu Missense 3/5 -
14-37132608-G-A PAX9 c.511G>A p.Ala171Thr Missense 3/5 -
8-16026077-C-A MSR1 c.520G>T p.Asp174Tyr Missense 4/9 -
6-154411240-T-A OPRM1 c.570T>A p.Asn190Lys Missense 2/4 -
13-32954261-G-A BRCA2 c.9235G>A p.Val3079Ile Missense 24/27 -
2-219530662-G-A RNF25 c.550C>T p.Arg184Trp Missense 7/10 -
2-219530662-G-T RNF25 c.550C>A p.Arg184Arg Synonymous 7/10 -
3-37670679-G-A ITGA9 c.1691G>A p.Arg564Gln Missense 16/28 -
5-57913614-T-C RAB3C c.169T>C p.Ser57Pro Missense 2/5 -
2-170460536-A-C PPIG c.1-16A>C - 5-UTRSNV 3/14 -
2-170460536-A-G PPIG c.1-16A>G - 5-UTRSNV 3/14 -
17-7750936-A-T KDM6B c.1330A>T p.Ser444Cys Missense 11/22 -
2-173311553-A-G ITGA6 c.183-18714A>G - IntronicSNV - 1/25
17-7750936-A-G KDM6B c.1330A>G p.Ser444Gly Missense 11/22 -
19-44536192-G-A ZNF222 c.485G>A p.Cys162Tyr Missense 4/4 -
14-69257119-G-T ZFP36L1 c.148C>A p.Pro50Thr Missense 2/3 -
2-210559865-G-A MAP2 c.455-5136G>A - IntronicSNV - 7/14
14-68250147-C-T ZFYVE26 c.3722G>A p.Arg1241Gln Missense 21/42 -
11-1081112-G-C MUC2 c.1408G>C p.Glu470Gln Missense 11/51 -
11-1081112-G-A MUC2 c.1408G>A p.Glu470Lys Missense 11/51 -
11-108129778-C-T ATM c.2442C>T p.Asp814Asp Synonymous 16/63 -
12-42481732-G-A GXYLT1 c.1179C>T p.Asp393Asp Synonymous 8/8 -
4-38930893-G-T FAM114A1 c.1100G>T p.Arg367Leu Missense 10/15 -
4-38930893-G-A FAM114A1 c.1100G>A p.Arg367His Missense 10/15 -
11-1718714-G-T KRTAP5-6 c.239G>T p.Cys80Phe Missense 1/1 -
2-121106851-G-A INHBB c.625G>A p.Gly209Ser Missense 2/2 -
11-108129778-C-A ATM c.2442C>A p.Asp814Glu Missense 16/63 -
11-108186818-C-T ATM c.6176C>T p.Thr2059Ile Missense 42/63 -
3-101576143-A-G NFKBIZ c.1943A>G p.Asn648Ser Missense 11/12 -
19-44128304-A-G CADM4 c.1019T>C p.Val340Ala Missense 8/9 -
8-126448674-G-T TRIB1 c.1080G>T p.Glu360Asp Missense 3/3 -
2-37513340-C-T PRKD3 c.890G>A p.Arg297His Missense 5/18 -
12-27841260-G-C PPFIBP1 c.2400G>C p.Lys800Asn Missense 26/30 -
1-228505275-C-T OBSCN c.13672C>T p.Arg4558Cys Missense 52/81 -
11-73753106-A-G C2CD3 c.5653T>C p.Ser1885Pro Missense 29/31 -
19-18779240-A-G KLHL26 c.1033A>G p.Thr345Ala Missense 3/3 -
16-23646857-A-G PALB2 c.1010T>C p.Leu337Ser Missense 4/13 -
16-23646857-A-T PALB2 c.1010T>A p.Leu337* Nonsense 4/13 -
19-41884327-T-C TMEM91 c.113T>C p.Ile38Thr Missense 2/4 -
19-51009440-C-T JOSD2 c.557G>A p.Arg186Gln Missense 5/5 -
22-29196494-C-T XBP1 c.19G>A p.Ala7Thr Missense 1/5 -
2-237997288-A-G COPS8 c.190A>G p.Ile64Val Missense 3/8 -
11-68777323-T-C MRGPRF c.47A>G p.Lys16Arg Missense 2/3 -
1-240370313-G-T FMN2 c.2201G>T p.Arg734Leu Missense 5/18 -
16-81050965-A-C CENPN c.252A>C p.Glu84Asp Missense 4/7 -
1-169519112-C-T F5 c.1538G>A p.Arg513Lys Missense 10/25 -
7-144462990-C-T TPK1 c.98G>A p.Arg33His Missense 3/9 -
9-130224593-A-G LRSAM1 c.469A>G p.Ile157Val Missense 8/25 -
8-94738629-G-A FAM92A c.665G>A p.Arg222Gln Missense 8/9 -
3-39118649-C-T WDR48 c.917C>T p.Ala306Val Missense 9/19 -
1-154966093-C-T LENEP c.10C>T p.Arg4Trp Missense 1/2 -
19-42410924-C-A ARHGEF1 c.2770C>A p.Pro924Thr Missense 28/29 -
2-201736166-A-C PPIL3 c.450T>G p.Asp150Glu Missense 7/7 -
1-182544687-G-A RNASEL c.2066C>T p.Ser689Phe Missense 7/7 -
17-685640-G-A MRM3 c.22G>A p.Ala8Thr Missense 1/4 -
12-113409176-G-A OAS3 c.*1398G>A - 3-UTRSNV 16/16 -
11-65360925-G-A KCNK7 c.740C>T p.Ala247Val Missense 2/2 -
11-124742934-C-A ROBO3 c.1485C>A p.Asp495Glu Missense 9/28 -
1-155025945-A-T ADAM15 c.239A>T p.His80Leu Missense 3/21 -
1-155025945-A-G ADAM15 c.239A>G p.His80Arg Missense 3/21 -
8-16035502-C-T MSR1 c.1-5G>A - IntronicSNV - 1/8
2-238881817-C-G UBE2F c.68C>G p.Ala23Gly Missense 2/10 -
2-238881817-C-T UBE2F c.68C>T p.Ala23Val Missense 2/10 -
19-14083761-T-A RFX1 c.1108A>T p.Thr370Ser Missense 9/21 -
10-98095688-G-A DNTT c.1400G>A p.Arg467Gln Missense 10/11 -
10-123503272-C-T ATE1 c.1480G>A p.Glu494Lys Missense 12/12 -
15-45434309-G-A DUOX1 c.1821G>A p.Leu607Leu Synonymous 16/35 -
6-160577063-G-A SLC22A1 c.1555G>A p.Val519Ile Missense 10/11 -
6-160577063-G-T SLC22A1 c.1555G>T p.Val519Phe Missense 10/11 -
1-75693501-G-T SLC44A5 c.895C>A p.Arg299Ser Missense 13/24 -
14-52981647-T-A TXNDC16 c.556A>T p.Thr186Ser Missense 8/21 -
14-52981647-T-G TXNDC16 c.556A>C p.Thr186Pro Missense 8/21 -
10-104235679-A-G MFSD13A c.1492A>G p.Met498Val Missense 10/10 -
20-61162267-T-C MIR1-1HG c.80T>C p.Val27Ala Missense 3/4 -
19-9236969-G-A OR7G3 c.658C>T p.Arg220* Nonsense 1/1 -
3-128205754-G-A GATA2 c.121C>T p.Pro41Ser Missense 2/6 -
1-153520235-G-A S100A3 c.229C>T p.Arg77Cys Missense 3/3 -
12-96422843-C-A LTA4H c.280G>T p.Ala94Ser Missense 2/19 -
1-154516983-G-T TDRD10 c.787G>T p.Ala263Ser Missense 10/13 -
5-140230548-C-A PCDHA1 c.2394+62279C>A - IntronicSNV - 1/3
11-65793343-C-T CATSPER1 c.508G>A p.Gly170Ser Missense 1/12 -
5-1077973-C-T SLC12A7 c.1604G>A p.Arg535His Missense 12/24 -
20-62187395-G-A FNDC11 c.379G>A p.Gly127Arg Missense 2/2 -
6-150004616-C-T LATS1 c.1609G>A p.Ala537Thr Missense 4/8 -
6-25855404-G-A SLC17A3 c.680C>T p.Thr227Ile Missense 6/13 -
1-242030355-G-A EXO1 c.1265G>A p.Ser422Asn Missense 9/14 -
17-36074979-G-A HNF1B c.1046-4308C>T - IntronicSNV - 4/8
4-106510543-A-G ARHGEF38 c.335A>G p.Asp112Gly Missense 2/4 -
4-7435721-C-T PSAPL1 c.886G>A p.Val296Met Missense 1/1 -
X-100658972-C-G GLA c.196G>C p.Glu66Gln Missense 2/7 -
15-48559813-C-T SLC12A1 c.2210C>T p.Ala737Val Missense 18/27 -
16-25255366-G-A ZKSCAN2 c.1721C>T p.Ala574Val Missense 6/7 -
16-20975817-A-G DNAH3 c.9389T>C p.Ile3130Thr Missense 53/62 -
1-185878632-A-G HMCN1 c.785A>G p.Asn262Ser Missense 5/107 -
2-172823408-C-G HAT1 c.761C>G p.Ala254Gly Missense 8/11 -
19-51017762-C-T ASPDH c.5G>A p.Gly2Glu Missense 1/5 -
2-172823408-C-T HAT1 c.761C>T p.Ala254Val Missense 8/11 -
11-130784838-G-A SNX19 c.997C>T p.His333Tyr Missense 1/11 -
10-70863698-C-T SRGN c.299C>T p.Ser100Phe Missense 3/3 -
1-202187176-G-A LGR6 c.57-7375G>A - IntronicSNV - 1/17
5-131951780-A-G RAD50 c.3122A>G p.His1041Arg Missense 20/25 -
1-55253419-C-T TTC22 c.704G>A p.Arg235Gln Missense 3/6 -
5-79755260-A-G ZFYVE16 c.3971A>G p.Asn1324Ser Missense 14/18 -
3-10084828-G-A FANCD2 c.983G>A p.Arg328Gln Missense 12/44 -
14-50923249-C-T MAP4K5 c.1000G>A p.Ala334Thr Missense 14/33 -
17-74076415-G-A ZACN c.454G>A p.Ala152Thr Missense 5/9 -
20-61491494-T-G TCFL5 c.814A>C p.Asn272His Missense 2/6 -
2-170090014-T-C LRP2 c.5005A>G p.Asn1669Asp Missense 30/79 -
2-165552167-T-A COBLL1 c.1849A>T p.Asn617Tyr Missense 12/14 -
11-1092388-A-C MUC2 c.4207A>C p.Thr1403Pro Missense 30/51 -
19-51412072-C-T KLK4 c.238G>A p.Gly80Arg Missense 3/5 -
22-39813759-T-G TAB1 c.455T>G p.Leu152Arg Missense 5/11 -
1-182555767-C-T RNASEL c.175G>A p.Gly59Ser Missense 2/7 -
17-7417663-C-T POLR2A c.*167C>T - 3-UTRSNV 29/29 -
2-170139387-A-C LRP2 c.1167T>G p.Asp389Glu Missense 10/79 -
1-114442885-A-G AP4B1 c.755T>C p.Val252Ala Missense 6/11 -
6-151789598-G-A ARMT1 c.679G>A p.Glu227Lys Missense 5/5 -
11-124742934-C-T ROBO3 c.1485C>T p.Asp495Asp Synonymous 9/28 -
2-173431626-T-G PDK1 c.734T>G p.Ile245Ser Missense 6/11 -
5-118969960-C-G FAM170A c.517C>G p.Pro173Ala Missense 3/5 -
2-241969887-G-A SNED1 c.400G>A p.Val134Ile Missense 2/32 -
20-32162037-G-T CBFA2T2 c.35-32725G>T - IntronicSNV - 1/10
11-102076653-C-T YAP1 c.718C>T p.Pro240Ser Missense 4/7 -
17-685640-G-T MRM3 c.22G>T p.Ala8Ser Missense 1/4 -
10-98095688-G-T DNTT c.1400G>T p.Arg467Leu Missense 10/11 -
1-201860626-A-G SHISA4 c.477A>G p.Ile159Met Missense 4/5 -
4-175846426-C-A ADAM29 c.-370+4483C>A - intron_variant - 2/3
6-30899571-C-T SFTA2 c.63G>A p.Gly21Gly Synonymous 2/3 -
6-30899571-C-G SFTA2 c.63G>C p.Gly21Gly Synonymous 2/3 -
13-73293205-G-A MZT1 c.110C>T p.Thr37Ile Missense 2/3 -
2-201728858-C-T CLK1 c.92G>A p.Arg31His Missense 1/13 -
11-102585288-T-G MMP8 c.1189A>C p.Arg397Arg Synonymous 8/10 -
1-185878632-A-C HMCN1 c.785A>C p.Asn262Thr Missense 5/107 -
8-16035410-C-T MSR1 c.88G>A p.Ala30Thr Missense 2/9 -
15-55916703-T-G PRTG c.2930A>C p.Lys977Thr Missense 18/20 -
19-18499119-C-G GDF15 c.301C>G p.Leu101Val Missense 2/2 -
9-139925490-C-T FUT7 c.701G>A p.Arg234His Missense 2/2 -
19-43920564-C-T TEX101 c.302C>T p.Pro101Leu Missense 7/9 -
19-43920564-C-A TEX101 c.302C>A p.Pro101Gln Missense 7/9 -
19-55451720-C-A NLRP7 c.467G>T p.Arg156Leu Missense 4/11 -
19-55451720-C-T NLRP7 c.467G>A p.Arg156Gln Missense 4/11 -
8-144942477-C-T EPPK1 c.4945G>A p.Val1649Ile Missense 2/3 -
1-201860626-A-C SHISA4 c.477A>C p.Ile159Ile Synonymous 4/5 -
17-41245900-T-G BRCA1 c.1648A>C p.Asn550His Missense 10/23 -
6-31750532-C-G VARS c.1853G>C p.Arg618Pro Missense 15/30 -
2-85777270-G-A GGCX c.2085-21C>T - IntronicSNV - 14/14
19-51503285-C-T KLK8 c.460G>A p.Val154Ile Missense 4/6 -
2-85777270-G-T GGCX c.2085-21C>A - IntronicSNV - 14/14
11-20648380-G-A SLC6A5 c.1387G>A p.Asp463Asn Missense 8/16 -
16-68056703-G-A DDX28 c.403C>T p.Pro135Ser Missense 1/1 -
13-32914127-G-A BRCA2 c.5635G>A p.Glu1879Lys Missense 11/27 -
17-36552190-A-G SOCS7 c.1907A>G - missense_variant 9/10 -
13-32914127-G-T BRCA2 c.5635G>T p.Glu1879* Nonsense 11/27 -
11-108188136-G-A ATM c.6235G>A p.Val2079Ile Missense 43/63 -
11-99415903-T-G CNTN5 c.1-11043T>G - IntronicSNV - 2/24
11-1955200-C-T TNNT3 c.328C>T p.Arg110Cys Missense 11/16 -
19-41893502-G-A EXOSC5 c.532C>T p.Arg178Trp Missense 5/6 -
12-65810174-T-C MSRB3 c.314-37334T>C - IntronicSNV - 4/5
12-65810174-T-A MSRB3 c.314-37334T>A - IntronicSNV - 4/5
6-31939823-G-A STK19 c.50G>A p.Trp17* Nonsense 1/8 -
20-61288392-C-G SLCO4A1 c.586C>G p.Arg196Gly Missense 2/12 -
8-101196856-G-C SPAG1 c.596G>C p.Gly199Ala Missense 7/19 -
20-61288392-C-T SLCO4A1 c.586C>T p.Arg196Cys Missense 2/12 -
11-65733236-G-A SART1 c.724G>A p.Gly242Arg Missense 6/20 -
3-5024734-T-C BHLHE40 c.596T>C p.Met199Thr Missense 5/5 -
5-57790693-A-G GAPT c.330A>G p.Glu110Glu Synonymous 3/3 -
15-51975608-G-A SCG3 c.374G>A p.Ser125Asn Missense 4/12 -
6-31106499-G-A PSORS1C1 c.110G>A p.Arg37His Missense 5/6 -
6-116948871-C-A RSPH4A c.1001C>A p.Thr334Lys Missense 3/6 -
2-70052624-G-A ANXA4 c.943G>A p.Val315Ile Missense 13/13 -
3-27490159-C-T SLC4A7 c.245G>A p.Arg82Gln Missense 3/25 -
17-74729764-T-C METTL23 c.569T>C p.Leu190Pro Missense 5/5 -
16-23647467-C-T PALB2 c.400G>A p.Asp134Asn Missense 4/13 -
22-36538399-T-C APOL3 c.1-543A>G - IntronicSNV - 2/4
11-108141983-T-C ATM c.2927T>C p.Val976Ala Missense 20/63 -
4-70460328-C-G UGT2A2 c.1198G>C p.Val400Leu Missense 5/6 -
1-21051116-G-A SH2D5 c.403C>T p.His135Tyr Missense 6/10 -
8-25708131-C-T EBF2 c.1675G>A p.Gly559Ser Missense 15/16 -
4-9943624-C-G SLC2A9 c.640G>C p.Val214Leu Missense 7/13 -
9-22451686-A-G DMRTA1 c.1291A>G p.Arg431Gly Missense 2/2 -
13-32953549-G-T BRCA2 c.8850G>T p.Lys2950Asn Missense 22/27 -
5-1085534-C-A SLC12A7 c.730G>T p.Ala244Ser Missense 7/24 -
20-61386115-G-A NTSR1 c.793G>A p.Val265Ile Missense 2/4 -
20-61386115-G-C NTSR1 c.793G>C p.Val265Leu Missense 2/4 -
13-32953549-G-A BRCA2 c.8850G>A p.Lys2950Lys Synonymous 22/27 -
13-95899303-G-C ABCC4 c.232C>G p.Pro78Ala Missense 3/31 -
8-29990075-C-A MBOAT4 c.692G>T p.Gly231Val Missense 3/3 -
12-49230563-T-C DDX23 c.1025A>G p.Lys342Arg Missense 10/17 -
2-173354358-A-G ITGA6 c.2651A>G p.Gln884Arg Missense 20/26 -
19-51535237-C-G KLK12 c.352G>C p.Val118Leu Missense 4/7 -
19-51535237-C-T KLK12 c.352G>A p.Val118Ile Missense 4/7 -
10-81113515-G-A PPIF c.541G>A p.Val181Met Missense 6/6 -
14-91366563-T-C RPS6KA5 c.1268A>G p.Tyr423Cys Missense 11/17 -
9-134386781-G-A POMT1 c.979G>A p.Val327Ile Missense 10/20 -
1-10566215-A-G PEX14 c.84+10837A>G - IntronicSNV - 2/8
12-57809456-C-T R3HDM2 c.-106+15047G>A - intron_variant - 1/23
17-78032753-C-T CCDC40 c.1414C>T p.Arg472Trp Missense 9/18 -
22-29621477-C-T EMID1 c.403+272C>T - IntronicSNV - 4/14
6-13365763-C-G GFOD1 c.385G>C p.Val129Leu Missense 2/2 -
11-108198391-T-G ATM c.6995T>G p.Leu2332Arg Missense 48/63 -
12-48538908-G-A PFKM c.2087G>A p.Arg696His Missense 21/23 -
17-673330-T-G GLOD4 c.698A>C p.Asp233Ala Missense 7/9 -
17-673330-T-C GLOD4 c.698A>G p.Asp233Gly Missense 7/9 -
13-32953550-G-T BRCA2 c.8851G>T p.Ala2951Ser Missense 22/27 -
16-84270890-T-C KCNG4 c.202A>G p.Arg68Gly Missense 2/3 -
21-43187167-G-C RIPK4 c.35C>G p.Ala12Gly Missense 1/8 -
3-113375077-T-C USF3 c.5452A>G p.Ser1818Gly Missense 7/7 -
14-37051584-G-A NKX2-8 c.11C>T p.Ser4Phe Missense 1/2 -
14-37051584-G-C NKX2-8 c.11C>G p.Ser4Cys Missense 1/2 -
10-93668677-A-C FGFBP3 c.50T>G p.Leu17Arg Missense 2/2 -
19-17170885-C-T HAUS8 c.244G>A p.Gly82Arg Missense 5/11 -
19-17170885-C-A HAUS8 c.244G>T p.Gly82* Nonsense 5/11 -
19-17170885-C-G HAUS8 c.244G>C p.Gly82Arg Missense 5/11 -
6-31691508-G-A MPIG6B c.154G>A p.Ala52Thr Missense 2/6 -
12-110390979-T-C GIT2 c.1160A>G p.Asn387Ser Missense 13/20 -
3-52852538-G-T ITIH4 c.2092C>A p.Pro698Thr Missense 18/24 -
19-17886295-A-T FCHO1 c.976A>T p.Thr326Ser Missense 15/29 -
11-108117798-C-A ATM c.1009C>A p.Arg337Ser Missense 8/63 -
11-108117798-C-T ATM c.1009C>T p.Arg337Cys Missense 8/63 -
19-40901011-G-T PRX c.*3453C>A - 3-UTRSNV 6/6 -
19-40901011-G-A PRX c.*3453C>T - 3-UTRSNV 6/6 -
12-42863262-A-G PRICKLE1 c.374T>C p.Val125Ala Missense 4/8 -
20-61910270-G-A ARFGAP1 c.550G>A p.Val184Met Missense 7/13 -
7-45125700-C-G NACAD c.79G>C p.Asp27His Missense 2/8 -
21-44293744-C-G WDR4 c.213G>C p.Lys71Asn Missense 3/11 -
10-114925675-T-C TCF7L2 c.1735T>C p.Ser579Pro Missense 14/14 -
18-74155000-T-C ZNF516 c.11A>G p.Asn4Ser Missense 3/8 -
9-101533220-C-G ANKS6 c.1930G>C p.Val644Leu Missense 10/15 -
9-101533220-C-T ANKS6 c.1930G>A p.Val644Ile Missense 10/15 -
11-102713560-G-A MMP3 c.193C>T p.Arg65* Nonsense 2/10 -
11-102713560-G-T MMP3 c.193C>A p.Arg65Arg Synonymous 2/10 -
11-121485599-T-A SORL1 c.5439T>A p.His1813Gln Missense 41/48 -
11-65810612-G-A GAL3ST3 c.662C>T p.Ala221Val Missense 3/3 -
3-111799867-G-A TMPRSS7 c.2090G>A p.Gly697Asp Missense 16/16 -
11-65978707-G-A PACS1 c.637G>A p.Val213Met Missense 4/24 -
12-114395678-G-C RBM19 c.749C>G p.Thr250Ser Missense 6/24 -
13-103710685-G-A SLC10A2 c.425C>T p.Pro142Leu Missense 2/6 -
10-5567247-C-T CALML3 c.199C>T p.Pro67Ser Missense 1/1 -
3-111799867-G-C TMPRSS7 c.2090G>C p.Gly697Ala Missense 16/16 -
17-260299-G-A C17orf97 c.166G>A p.Glu56Lys Missense 1/2 -
11-69456169-G-T CCND1 c.88G>T p.Ala30Ser Missense 1/5 -
11-69456169-G-A CCND1 c.88G>A p.Ala30Thr Missense 1/5 -
19-49377085-G-A PPP1R15A c.595G>A p.Val199Ile Missense 2/3 -
5-1219647-T-C SLC6A19 c.1406T>C p.Ile469Thr Missense 10/12 -
5-57790693-A-T GAPT c.330A>T p.Glu110Asp Missense 3/3 -
2-20647604-T-G RHOB c.378T>G p.His126Gln Missense 1/1 -
7-18631217-C-T HDAC9 c.611C>T p.Thr204Ile Missense 7/13 -
7-18631217-C-G HDAC9 c.611C>G p.Thr204Ser Missense 7/13 -
10-52005040-C-T ASAH2 c.302G>A p.Gly101Asp Missense 2/20 -
1-15871023-G-A DNAJC16 c.704G>A p.Arg235His Missense 5/15 -
10-51556831-G-A MSMB c.190G>A p.Glu64Lys Missense 3/4 -
20-62198324-G-A HELZ2 c.2387C>T p.Ala796Val Missense 7/20 -
3-140785128-G-T SPSB4 c.182G>T p.Arg61Leu Missense 2/3 -
12-30906358-G-A CAPRIN2 c.340C>T p.Pro114Ser Missense 1/17 -
19-18054132-G-C CCDC124 c.412G>C p.Glu138Gln Missense 4/5 -
1-67822377-A-G IL12RB2 c.1258+5605A>G - IntronicSNV - 9/15
6-144263042-T-C PLAGL1 c.911A>G p.Asn304Ser Missense 8/8 -
6-144263042-T-G PLAGL1 c.911A>C p.Asn304Thr Missense 8/8 -
17-46929908-T-C CALCOCO2 c.743T>C p.Val248Ala Missense 8/13 -
8-134072363-G-T SLA c.43C>A p.Pro15Thr Missense 3/9 -
16-81076959-A-C ATMIN c.856A>C p.Thr286Pro Missense 4/4 -
11-55563035-A-G OR5D14 c.4A>G p.Met2Val Missense 1/1 -
11-89875437-G-A NAALAD2 c.195-5061G>A - IntronicSNV - 2/18
12-6128454-G-A VWF c.4130C>T p.Ala1377Val Missense 28/52 -
1-204379758-C-T PPP1R15B c.782G>A p.Arg261Lys Missense 1/2 -
5-131925479-G-A RAD50 c.1402G>A p.Glu468Lys Missense 9/25 -
7-1484418-T-C MICALL2 c.1288A>G p.Thr430Ala Missense 6/17 -
8-126267630-T-G NSMCE2 c.418+73132T>G - IntronicSNV - 5/7
1-182555062-T-C RNASEL c.880A>G p.Lys294Glu Missense 2/7 -
19-49954807-T-G PIH1D1 c.25A>C p.Met9Leu Missense 1/9 -
7-27159136-G-C HOXA3 c.-122C>G - splice_region_variant,5_prime_UTR_variant 1/3 -
6-31496949-C-T MCCD1 c.158C>T p.Thr53Met Missense 1/2 -
17-59761029-T-G BRIP1 c.3378A>C p.Glu1126Asp Missense 20/20 -
17-59761029-T-C BRIP1 c.3378A>G p.Glu1126Glu Synonymous 20/20 -
15-48734008-C-A FBN1 c.6073G>T p.Ala2025Ser Missense 50/66 -
2-219756383-C-G WNT10A c.757-1113C>G - IntronicSNV - 3/3
1-46049849-G-C NASP c.31G>C p.Val11Leu Missense 1/15 -
1-46049849-G-A NASP c.31G>A p.Val11Ile Missense 1/15 -
11-93469892-G-C TAF1D c.661C>G p.Leu221Val Missense 5/6 -
19-18710506-C-G CRLF1 c.266G>C p.Arg89Pro Missense 2/9 -
5-1065399-C-T SLC12A7 c.2436G>A p.Val812Val Synonymous 18/24 -
15-40265799-A-G EIF2AK4 c.1667A>G p.Glu556Gly Missense 11/39 -
12-49361925-C-T WNT10B c.515G>A p.Ser172Asn Missense 4/5 -
13-32929309-A-G BRCA2 c.7319A>G p.His2440Arg Missense 14/27 -
1-204978703-C-T NFASC c.3308C>T p.Ala1103Val Missense 28/30 -
5-131939181-G-A RAD50 c.2397G>A p.Gln799Gln Synonymous 14/25 -
11-66062546-C-T TMEM151A c.829C>T p.Arg277Cys Missense 2/2 -
5-131939181-G-C RAD50 c.2397G>C p.Gln799His Missense 14/25 -
14-64519035-A-G SYNE2 c.8404A>G p.Ser2802Gly Missense 48/116 -
6-149208145-C-T UST c.271C>T p.His91Tyr Missense 2/8 -
1-27677375-G-A SYTL1 c.1060G>A p.Glu354Lys Missense 11/15 -
12-49745118-G-T DNAJC22 c.859G>T p.Gly287Trp Missense 3/3 -
3-17349498-T-C TBC1D5 c.1124A>G p.Tyr375Cys Missense 14/22 -
4-74281976-G-C ALB c.1195G>C p.Asp399His Missense 10/15 -
4-74281976-G-A ALB c.1195G>A p.Asp399Asn Missense 10/15 -
11-6190850-C-T OR52B2 c.707G>A p.Arg236Gln Missense 1/1 -
3-47047500-G-A NBEAL2 c.6866G>A p.Arg2289Gln Missense 43/54 -
8-26265804-A-G BNIP3L c.523A>G p.Met175Val Missense 5/6 -
19-17611563-G-A SLC27A1 c.1514G>A p.Arg505Gln Missense 10/12 -
11-108119823-T-C ATM c.1229T>C p.Val410Ala Missense 9/63 -
14-64519035-A-T SYNE2 c.8404A>T p.Ser2802Cys Missense 48/116 -
19-51172526-G-C SHANK1 c.2691C>G p.Asp897Glu Missense 23/24 -
20-61872136-T-C NKAIN4 c.*713A>G - 3-UTRSNV 7/7 -
12-992587-A-G WNK1 c.3516A>G p.Ile1172Met Missense 16/28 -
2-20402626-C-T SDC1 c.834G>A p.Met278Ile Missense 6/6 -
22-47091143-A-G CERK c.1013T>C p.Val338Ala Missense 9/13 -
19-18288540-C-G IFI30 c.656C>G p.Thr219Ser Missense 6/7 -
13-38156538-C-T POSTN c.1357G>A p.Gly453Arg Missense 10/23 -
17-41244775-T-G BRCA1 c.2773A>C p.Ile925Leu Missense 10/23 -
17-41244775-T-C BRCA1 c.2773A>G p.Ile925Val Missense 10/23 -
7-144094613-G-T NOBOX c.1796C>A p.Pro599His Missense 10/10 -
9-124855059-G-T TTLL11 c.639C>A p.Asn213Lys Missense 1/9 -
6-41037832-G-A OARD1 c.226C>T p.Arg76* Nonsense 4/6 -
19-44660524-A-C ZNF234 c.355A>C p.Ile119Leu Missense 6/6 -
6-167366030-G-T RNASET2 c.93C>A p.Asn31Lys Missense 2/9 -
6-167366030-G-C RNASET2 c.93C>G p.Asn31Lys Missense 2/9 -
1-182555653-T-G RNASEL c.289A>C p.Ile97Leu Missense 2/7 -
1-182555653-T-C RNASEL c.289A>G p.Ile97Val Missense 2/7 -
14-24792132-A-G ADCY4 c.2320T>C p.Tyr774His Missense 18/25 -
1-67793935-T-A IL12RB2 c.532T>A p.Cys178Ser Missense 5/16 -
6-27279805-G-T POM121L2 c.145C>A p.Pro49Thr Missense 1/1 -
11-6898587-C-A OR10A4 c.709C>A p.Gln237Lys Missense 1/1 -
1-110280921-C-T GSTM3 c.257G>A p.Arg86His Missense 5/9 -
2-152534545-T-C NEB c.3412A>G p.Asn1138Asp Missense 33/150 -
6-32097475-T-C FKBPL c.83A>G p.Asn28Ser Missense 2/2 -
5-158139228-C-T EBF1 c.1483G>A p.Ala495Thr Missense 14/16 -
4-39083586-G-A KLHL5 c.707G>A p.Arg236His Missense 5/12 -
1-154401780-C-T IL6R c.194C>T p.Pro65Leu Missense 2/10 -
6-109748082-C-T PPIL6 c.599G>A p.Arg200Gln Missense 5/9 -
3-113666020-G-C GRAMD1C c.*1695G>C - 3-UTRSNV 18/18 -
17-59821814-T-C BRIP1 c.2236A>G p.Ile746Val Missense 15/20 -
12-52282460-C-T ANKRD33 c.254C>T p.Pro85Leu Missense 2/5 -
20-32848309-C-A ASIP c.129C>A p.Asn43Lys Missense 1/3 -
6-38854645-A-G DNAH8 c.8338A>G p.Ile2780Val Missense 57/93 -
17-65717525-T-A NOL11 c.344T>A p.Val115Glu Missense 4/18 -
4-74847598-C-T PF4 c.73G>A p.Val25Met Missense 1/3 -
20-55108617-C-T FAM209B c.220C>T p.Gln74* Nonsense 1/2 -
20-55108617-C-A FAM209B c.220C>A p.Gln74Lys Missense 1/2 -
18-43319519-G-A SLC14A1 c.838G>A p.Asp280Asn Missense 8/10 -
7-55221725-G-A EGFR c.769G>A p.Glu257Lys Missense 7/28 -
2-144899559-C-A GTDC1 c.411G>T p.Met137Ile Missense 6/10 -
19-51519225-C-T KLK10 c.457G>A p.Val153Ile Missense 4/6 -
6-32084485-C-T ATF6B c.1784G>A p.Arg595Gln Missense 16/18 -
1-155233763-C-G CLK2 c.1292G>C p.Arg431Pro Missense 12/13 -
13-43463378-C-T EPSTI1 c.949G>A p.Gly317Ser Missense 12/13 -
11-6898587-C-G OR10A4 c.709C>G p.Gln237Glu Missense 1/1 -
1-182922215-G-T SHCBP1L c.54C>A p.Ser18Arg Missense 1/10 -
17-58235748-T-C CA4 c.685T>C p.Cys229Arg Missense 7/8 -
5-1032318-C-T NKD2 c.193C>T p.Pro65Ser Missense 4/10 -
2-7137067-A-G RNF144A c.10A>G p.Thr4Ala Missense 3/9 -
6-111695631-C-A REV3L c.3927G>T p.Gln1309His Missense 14/33 -
13-32937488-G-T BRCA2 c.8149G>T p.Ala2717Ser Missense 18/27 -
13-95899303-G-A ABCC4 c.232C>T p.Pro78Ser Missense 3/31 -
8-29990075-C-T MBOAT4 c.692G>A p.Gly231Glu Missense 3/3 -
13-73346905-C-T DIS3 c.1312G>A p.Asp438Asn Missense 9/21 -
10-90342837-C-T RNLS c.111G>A p.Glu37Glu Synonymous 1/7 -
17-41223091-G-A BRCA1 c.4840C>T p.Pro1614Ser Missense 15/23 -
11-108143299-A-G ATM c.3118A>G p.Met1040Val Missense 21/63 -
17-11166786-G-A SHISA6 c.742G>A p.Val248Ile Missense 2/6 -
14-90755014-C-T NRDE2 c.2705G>A p.Arg902His Missense 11/14 -
2-242690702-G-A D2HGDH c.1039G>A p.Ala347Thr Missense 8/10 -
6-31545193-T-A TNF c.581T>A p.Ile194Asn Missense 4/4 -
20-1551621-T-C SIRPB1 c.914A>G p.Lys305Arg Missense 4/6 -
14-39587798-A-T GEMIN2 c.400A>T p.Thr134Ser Missense 4/9 -
2-61275771-C-G PEX13 c.1078C>G p.Leu360Val Missense 4/4 -
1-10725413-G-T CASZ1 c.232C>A p.Arg78Ser Missense 5/16 -
1-10725413-G-A CASZ1 c.232C>T p.Arg78Cys Missense 5/16 -
3-169801858-T-C GPR160 c.98T>C p.Leu33Pro Missense 4/4 -
6-31698714-T-A CLIC1 c.631A>T p.Ser211Cys Missense 6/6 -
6-116833053-T-C TRAPPC3L c.241-11224A>G - IntronicSNV - 3/4
4-187629770-A-G FAT1 c.1212T>C p.Ser404Ser Synonymous 2/27 -
4-187629770-A-C FAT1 c.1212T>G p.Ser404Arg Missense 2/27 -
1-156641200-T-A NES c.2780A>T p.Glu927Val Missense 4/4 -
6-32123494-G-T PPT2 c.385G>T p.Val129Phe Missense 4/9 -
6-38800164-G-A DNAH8 c.4255G>A p.Glu1419Lys Missense 31/93 -
12-109994870-A-T MMAB c.716T>A p.Met239Lys Missense 9/9 -
1-156713558-G-A HDGF c.602C>T p.Pro201Leu Missense 5/6 -
1-156713558-G-C HDGF c.602C>G p.Pro201Arg Missense 5/6 -
13-32893271-A-G BRCA2 c.125A>G p.Tyr42Cys Missense 3/27 -
19-51462454-G-A KLK6 c.701C>T p.Thr234Met Missense 7/7 -
1-154960848-G-A FLAD1 c.640G>A p.Gly214Arg Missense 2/7 -
12-23946146-C-T SOX5 c.482-37488G>A - IntronicSNV - 3/14
11-76796077-G-C CAPN5 c.145G>C p.Val49Leu Missense 2/13 -
2-10186419-A-G KLF11 c.185A>G p.Gln62Arg Missense 2/4 -
2-10186419-A-T KLF11 c.185A>T p.Gln62Leu Missense 2/4 -
14-60591199-A-T PCNX4 c.1608A>T p.Gln536His Missense 8/10 -
19-18895726-C-T COMP c.1894G>A p.Glu632Lys Missense 16/19 -
7-100680521-G-A MUC17 c.5824G>A p.Glu1942Lys Missense 3/13 -
17-41249283-C-T BRCA1 c.571G>A p.Val191Ile Missense 8/23 -
10-104183604-G-A CUEDC2 c.607C>T p.Arg203Cys Missense 7/9 -
8-23003397-G-A TNFRSF10D c.520C>T p.Pro174Ser Missense 5/9 -
13-32907401-G-A BRCA2 c.1786G>A p.Asp596Asn Missense 10/27 -
13-32907401-G-C BRCA2 c.1786G>C p.Asp596His Missense 10/27 -
10-81113515-G-T PPIF c.541G>T p.Val181Leu Missense 6/6 -
5-850695-T-C ZDHHC11 c.23A>G p.Gln8Arg Missense 1/13 -
7-6476104-G-A DAGLB c.308C>T p.Ala103Val Missense 3/15 -
1-169135127-A-C NME7 c.1098+3558T>G - IntronicSNV - 11/11
13-32913690-C-T BRCA2 c.5198C>T p.Ser1733Phe Missense 11/27 -
14-64522843-A-T SYNE2 c.9926A>T p.His3309Leu Missense 49/116 -
2-136393658-A-G R3HDM1 c.808A>G p.Met270Val Missense 11/26 -
6-31669295-A-G ABHD16A c.158-490T>C - IntronicSNV - 1/17
6-31895973-C-G C2 c.256+32C>G - IntronicSNV - 2/17
11-1902793-A-G LSP1 c.323A>G p.Gln108Arg Missense 3/11 -
13-32913804-G-A BRCA2 c.5312G>A p.Gly1771Asp Missense 11/27 -
10-104858719-A-G NT5C2 c.656T>C p.Val219Ala Missense 10/19 -
11-108158415-A-G ATM c.4082A>G p.Gln1361Arg Missense 27/63 -
19-18502835-G-A LRRC25 c.880C>T p.Pro294Ser Missense 2/2 -
20-50048783-G-A NFATC2 c.2543C>T p.Pro848Leu Missense 9/11 -
19-51728621-G-A CD33 c.185G>A p.Arg62Gln Missense 2/7 -
16-23619278-C-T PALB2 c.3257G>A p.Arg1086Gln Missense 12/13 -
19-44740441-C-T ZNF227 c.1858C>T p.Arg620Trp Missense 6/6 -
19-44159722-C-T PLAUR c.476G>A p.Arg159His Missense 5/7 -
11-108198391-T-C ATM c.6995T>C p.Leu2332Pro Missense 48/63 -
12-53579178-G-A ZNF740 c.167G>A p.Arg56Gln Missense 4/7 -
12-58112155-C-T OS9 c.1361C>T p.Ser454Leu Missense 11/15 -
11-102206865-C-T BIRC3 c.1493C>T p.Thr498Met Missense 7/9 -
4-54347978-C-T LNX1 c.1394G>A p.Arg465Gln Missense 7/11 -
3-180321090-T-G TTC14 c.465T>G p.Asp155Glu Missense 3/12 -
7-144074929-G-A ARHGEF5 c.4531+646G>A - IntronicSNV - 13/14
3-125313552-G-T OSBPL11 c.93C>A p.Asn31Lys Missense 1/13 -
1-182550385-T-C RNASEL c.1880A>G p.Lys627Arg Missense 5/7 -
19-56424443-T-C NLRP13 c.740A>G p.Gln247Arg Missense 5/11 -
11-108192112-T-G ATM c.6537T>G p.Ile2179Met Missense 45/63 -
14-102391577-G-A PPP2R5C c.1543G>A p.Ala515Thr Missense 14/14 -
19-51768620-A-G SIGLECL1 c.23-2A>G - IntronicSNV - 2/5
11-108199832-C-T ATM c.7174C>T p.Arg2392Trp Missense 49/63 -
6-31129616-A-G TCF19 c.631A>G p.Met211Val Missense 3/4 -
6-36297893-C-T C6orf222 c.575G>A p.Arg192His Missense 2/12 -
20-32265246-C-T E2F1 c.826G>A p.Val276Met Missense 5/7 -
7-33139147-G-A RP9 c.184-99C>T - IntronicSNV - 2/5
6-153441079-A-G RGS17 c.-26+11180T>C - intron_variant - 1/4
17-41223048-A-G BRCA1 c.4883T>C p.Met1628Thr Missense 15/23 -
4-106395144-T-C PPA2 c.64A>G p.Thr22Ala Missense 1/12 -
6-160863796-T-A SLC22A3 c.1292T>A p.Ile431Lys Missense 8/11 -
8-23708887-C-T STC1 c.419G>A p.Arg140Gln Missense 3/4 -
13-32911463-A-G BRCA2 c.2971A>G p.Asn991Asp Missense 11/27 -
16-67037054-A-C CES4A c.772A>C p.Ser258Arg Missense 6/12 -
22-36537725-G-A APOL3 c.132C>T p.Tyr44Tyr Synonymous 5/5 -
10-126311927-C-T FAM53B c.1153G>A p.Glu385Lys Missense 5/5 -
12-69113390-T-C NUP107 c.1207T>C p.Tyr403His Missense 14/28 -
13-113669159-C-T MCF2L c.162C>T p.Ser54Ser Synonymous 2/30 -
12-121177159-C-T ACADS c.1147C>T p.Arg383Cys Missense 10/10 -
19-6147676-C-T ACSBG2 c.287C>T p.Ser96Phe Missense 3/15 -
17-41222975-C-T BRCA1 c.4956G>A p.Met1652Ile Missense 15/23 -
11-108190770-G-C ATM c.6437G>C p.Ser2146Thr Missense 44/63 -
6-161006084-G-T LPA c.4283C>A p.Pro1428Gln Missense 26/39 -
6-31525912-C-T NFKBIL1 c.670C>T p.Arg224Cys Missense 4/4 -
11-108122700-T-C ATM c.1744T>C p.Phe582Leu Missense 11/63 -
1-114948338-T-C TRIM33 c.2462A>G p.Asn821Ser Missense 15/20 -
X-135310785-T-C MAP7D3 c.1829A>G p.Gln610Arg Missense 11/19 -
12-112168009-G-A ACAD10 c.1394+249G>A - IntronicSNV - 10/20
6-31920873-C-T NELFE c.1045+633G>A - IntronicSNV - 10/10
1-196712596-A-T CFH c.3148A>T p.Asn1050Tyr Missense 20/22 -
8-101196856-G-A SPAG1 c.596G>A p.Gly199Asp Missense 7/19 -
20-62607179-G-A SAMD10 c.452C>T p.Ala151Val Missense 4/5 -
10-123730454-T-C NSMCE4A c.501A>G p.Leu167Leu Synonymous 3/11 -
22-29121019-G-A CHEK2 c.667C>T p.Arg223Cys Missense 5/16 -
12-124092004-C-T DDX55 c.272C>T p.Thr91Ile Missense 4/14 -
14-57749700-A-C AP5M1 c.1137A>C p.Glu379Asp Missense 5/8 -
17-48628160-A-G SPATA20 c.1265A>G p.Lys422Arg Missense 11/17 -
6-167352456-C-T RNASET2 c.373G>A p.Val125Met Missense 6/9 -
20-62730147-G-A OPRL1 c.1108G>A p.Ala370Thr Missense 5/5 -
18-7008591-T-C LAMA1 c.4018A>G p.Met1340Val Missense 28/63 -
1-155226571-G-C SCAMP3 c.791C>G p.Ser264Cys Missense 8/9 -
11-108196896-C-G ATM c.6919C>G p.Leu2307Val Missense 47/63 -
19-18120688-G-A ARRDC2 c.689G>A p.Arg230Gln Missense 5/8 -
12-109994870-A-G MMAB c.716T>C p.Met239Thr Missense 9/9 -
11-129752394-G-A NFRKB c.1109C>T p.Pro370Leu Missense 8/25 -
11-129752394-G-T NFRKB c.1109C>A p.Pro370His Missense 8/25 -
5-131939072-G-A RAD50 c.2288G>A p.Arg763His Missense 14/25 -
22-29121326-T-C CHEK2 c.478A>G p.Arg160Gly Missense 4/16 -
17-72926682-G-C OTOP2 c.952G>C p.Gly318Arg Missense 6/7 -
3-172232682-A-G TNFSF10 c.239T>C p.Val80Ala Missense 2/3 -
6-153323570-A-G MTRF1L c.251T>C p.Leu84Ser Missense 1/7 -
11-3743046-G-A NUP98 c.2147-991C>T - IntronicSNV - 16/32
19-17316802-G-A MYO9B c.5098G>A p.Val1700Met Missense 32/40 -
13-32907000-A-T BRCA2 c.1385A>T p.Glu462Val Missense 10/27 -
13-73319139-G-A BORA c.532G>A p.Glu178Lys Missense 8/12 -
2-220038094-G-A CNPPD1 c.668C>T p.Ser223Phe Missense 7/8 -
6-31922470-G-A NELFE c.604C>T p.Arg202Trp Missense 7/11 -
6-31922470-G-C NELFE c.604C>G p.Arg202Gly Missense 7/11 -
12-15035081-T-C MGP c.304A>G p.Thr102Ala Missense 4/4 -
12-15035081-T-A MGP c.304A>T p.Thr102Ser Missense 4/4 -
5-131915022-G-A RAD50 c.379G>A p.Val127Ile Missense 4/25 -
1-182550481-G-A RNASEL c.1784C>T p.Thr595Met Missense 5/7 -
3-21719246-C-T ZNF385D c.23-12726G>A - IntronicSNV - 1/7
6-153332860-C-G RGS17 c.482G>C p.Arg161Thr Missense 5/5 -
20-32661434-A-G RALY c.322A>G p.Ile108Val Missense 4/9 -
19-17339696-G-A OCEL1 c.757G>A p.Asp253Asn Missense 6/6 -
5-131924421-G-T RAD50 c.1094G>T p.Arg365Leu Missense 8/25 -
5-131924421-G-A RAD50 c.1094G>A p.Arg365Gln Missense 8/25 -
8-22267473-T-G SLC39A14 c.457+1464T>G - IntronicSNV - 3/8
8-22267473-T-A SLC39A14 c.457+1464T>A - IntronicSNV - 3/8
19-18976484-C-T UPF1 c.3134C>T p.Ala1045Val Missense 22/24 -
2-85808746-G-C VAMP8 c.210G>C p.Trp70Cys Missense 3/3 -
17-41246812-A-G BRCA1 c.736T>C p.Leu246Leu Synonymous 10/23 -
2-43937393-T-G PLEKHH2 c.2138T>G p.Met713Arg Missense 13/30 -
16-89294827-A-G ZNF778 c.2047A>G p.Asn683Asp Missense 6/6 -
15-71305225-G-A LRRC49 c.1676G>A p.Arg559His Missense 14/16 -
4-74719604-C-A PF4V1 c.205C>A p.His69Asn Missense 2/3 -
12-112330774-G-A MAPKAPK5 c.1331G>A p.Arg444His Missense 14/14 -
21-35880072-G-A KCNE1 c.-162+3327C>T - intron_variant - 2/3
12-49498284-T-C LMBR1L c.382A>G p.Met128Val Missense 5/17 -
13-32977099-C-T N4BP2L1 c.712G>A p.Gly238Ser Missense 5/5 -
6-31549407-C-T LTB c.209G>A p.Gly70Glu Missense 3/4 -
6-30880156-G-A GTF2H4 c.1010G>A p.Arg337Gln Missense 11/14 -
19-38817628-G-A KCNK6 c.718G>A p.Val240Ile Missense 2/3 -
13-32954261-G-T BRCA2 c.9235G>T p.Val3079Phe Missense 24/27 -
13-32907413-T-C BRCA2 c.1798T>C p.Tyr600His Missense 10/27 -
11-65632076-A-C MUS81 c.1168A>C p.Asn390His Missense 11/16 -
11-2185608-C-A TH c.1349G>T p.Arg450Leu Missense 13/13 -
16-24088428-G-A PRKCB c.530-15684G>A - IntronicSNV - 5/16
19-18724695-G-T TMEM59L c.185G>T p.Gly62Val Missense 2/8 -
7-36492159-A-G ANLN c.3325A>G p.Ile1109Val Missense 24/24 -
10-50830155-C-G CHAT c.711C>G p.Ser237Arg Missense 5/15 -
19-18271764-C-T PIK3R2 c.451C>T p.Pro151Ser Missense 4/16 -
15-51569410-A-G CYP19A1 c.1-34301T>C - IntronicSNV - 1/9
5-172744882-C-T STC2 c.877G>A p.Glu293Lys Missense 4/4 -
19-38782485-G-C SPINT2 c.427G>C p.Val143Leu Missense 6/6 -
20-44511697-A-G ZSWIM1 c.466A>G p.Ile156Val Missense 2/2 -
1-155103842-T-A EFNA1 c.120T>A p.His40Gln Missense 2/5 -
17-48600427-C-T MYCBPAP c.1385C>T - missense_variant 11/19 -
10-49810977-G-T ARHGAP22 c.34+1831C>A - IntronicSNV - 1/9
11-1972143-G-A MRPL23 c.32G>A p.Arg11Gln Missense 2/5 -
3-52852538-G-A ITIH4 c.2092C>T p.Pro698Ser Missense 18/24 -
2-21263886-A-G APOB c.307T>C p.Tyr103His Missense 4/29 -
19-40901011-G-C PRX c.*3453C>G - 3-UTRSNV 6/6 -
11-108201023-T-C ATM c.7390T>C p.Cys2464Arg Missense 50/63 -
4-74349158-G-A AFM c.89-500G>A - IntronicSNV - 1/14
8-16026259-A-T MSR1 c.338T>A p.Val113Asp Missense 4/9 -
17-7574013-G-A TP53 c.1014C>T p.Phe338Phe Synonymous 10/11 -
17-7574013-G-C TP53 c.1014C>G p.Phe338Leu Missense 10/11 -
12-15734702-C-A PTPRO c.3138C>A p.Asp1046Glu Missense 22/26 -
19-50926902-T-G SPIB c.380T>G p.Val127Gly Missense 5/6 -
13-33332344-C-T PDS5B c.3176C>T p.Ala1059Val Missense 27/35 -
22-46615880-T-C PPARA c.680T>C p.Val227Ala Missense 6/8 -
9-27009095-T-C IFT74 c.665T>C p.Met222Thr Missense 9/20 -
9-110249590-G-A KLF4 c.1085C>T p.Pro362Leu Missense 3/5 -
19-51330951-T-C KLK15 c.164A>G p.His55Arg Missense 2/5 -
17-48068913-C-T DLX3 c.832G>A p.Gly278Arg Missense 3/3 -
19-51850210-C-G ETFB c.814G>C p.Val272Leu Missense 4/5 -
12-52913822-A-C KRT5 c.259T>G p.Phe87Val Missense 1/9 -
20-62737970-C-G NPBWR2 c.215G>C p.Arg72Thr Missense 1/1 -
8-16026131-G-A MSR1 c.466C>T p.Leu156Phe Missense 4/9 -
3-52861211-A-T ITIH4 c.254T>A p.Ile85Asn Missense 3/24 -
19-19030611-G-A DDX49 c.61G>A p.Gly21Ser Missense 1/13 -
7-100634145-G-A MUC12 c.301G>A p.Ala101Thr Missense 2/12 -
19-8996460-A-C MUC16 c.41112T>G p.Asp13704Glu Missense 61/84 -
2-43638185-C-T THADA c.4059-12907G>A - IntronicSNV - 28/37
8-29994923-G-A MBOAT4 c.344+1125C>T - IntronicSNV - 2/2
11-69631109-C-G FGF3 c.303G>C p.Lys101Asn Missense 2/3 -
11-69631109-C-A FGF3 c.303G>T p.Lys101Asn Missense 2/3 -
19-2426037-C-A TIMM13 c.*909G>T - 3-UTRSNV 3/3 -
2-60720757-G-A BCL11A c.386-24789C>T - IntronicSNV - 2/3
6-75994198-T-C TMEM30A c.157A>G p.Ile53Val Missense 1/7 -
13-73401237-G-A PIBF1 c.896G>A p.Arg299Gln Missense 7/18 -
2-85531116-C-T TCF7L1 c.757C>T p.Pro253Ser Missense 6/12 -
19-9237457-G-T OR7G3 c.170C>A p.Thr57Asn Missense 1/1 -
5-173034149-T-C BOD1 c.*1148A>G - 3_prime_UTR_variant 4/4 -
20-19951534-T-A RIN2 c.736T>A p.Ser246Thr Missense 7/12 -
17-41245120-T-A BRCA1 c.2428A>T p.Asn810Tyr Missense 10/23 -
1-201938669-G-A TIMM17A c.503G>A p.Arg168Gln Missense 6/6 -
13-32906655-A-G BRCA2 c.1040A>G p.Gln347Arg Missense 10/27 -
13-32906655-A-C BRCA2 c.1040A>C p.Gln347Pro Missense 10/27 -
8-16026077-C-G MSR1 c.520G>C p.Asp174His Missense 4/9 -
5-44813268-A-G MRPS30 c.914A>G p.Lys305Arg Missense 4/5 -
1-26299050-G-A PAFAH2 c.1083C>T p.Leu361Leu Synonymous 10/11 -
14-53235651-G-A STYX c.598G>A p.Gly200Ser Missense 10/11 -
1-160000435-A-T PIGM c.1095T>A p.Phe365Leu Missense 1/1 -
17-66270082-A-G SLC16A6 c.362T>C p.Ile121Thr Missense 3/6 -
6-13616710-C-T NOL7 c.343C>T p.Pro115Ser Missense 3/8 -
1-154966093-C-A LENEP c.10C>A p.Arg4Arg Synonymous 1/2 -
2-44053544-G-T ABCG5 c.751C>A p.Gln251Lys Missense 6/13 -
15-91525048-C-A PRC1 c.431G>T p.Ser144Ile Missense 4/15 -
15-91525048-C-G PRC1 c.431G>C p.Ser144Thr Missense 4/15 -
15-91525048-C-T PRC1 c.431G>A p.Ser144Asn Missense 4/15 -
2-85868133-G-A USP39 c.1319G>A p.Arg440His Missense 10/13 -
7-98246958-C-T NPTX2 c.185C>T p.Ala62Val Missense 1/5 -
17-59924572-G-A BRIP1 c.517C>T p.Arg173Cys Missense 6/20 -
2-44053544-G-C ABCG5 c.751C>G p.Gln251Glu Missense 6/13 -
2-44053544-G-A ABCG5 c.751C>T p.Gln251* Nonsense 6/13 -
8-42587552-G-A CHRNB3 c.1102G>A p.Val368Met Missense 5/6 -
8-16026077-C-T MSR1 c.520G>A p.Asp174Asn Missense 4/9 -
2-110959008-T-C NPHP1 c.133A>G p.Ile45Val Missense 2/20 -
2-110959008-T-G NPHP1 c.133A>C p.Ile45Leu Missense 2/20 -
16-23646617-G-T PALB2 c.1250C>A p.Ser417Tyr Missense 4/13 -
19-51412072-C-G KLK4 c.238G>C p.Gly80Arg Missense 3/5 -
1-44290530-A-G ST3GAL3 c.382A>G p.Thr128Ala Missense 5/13 -
4-2195009-G-A POLN c.943C>T p.Pro315Ser Missense 7/26 -
8-133899575-G-A TG c.1958G>A p.Gly653Asp Missense 9/48 -
6-31750532-C-T VARS c.1853G>A p.Arg618Gln Missense 15/30 -
6-109321804-G-A SESN1 c.619C>T p.Pro207Ser Missense 4/10 -
2-242509564-C-T BOK c.374C>T p.Ser125Phe Missense 4/5 -
12-70949014-G-T PTPRB c.5069C>A p.Thr1690Asn Missense 20/34 -
16-847033-C-G CHTF18 c.2674C>G p.Pro892Ala Missense 20/22 -
16-847033-C-T CHTF18 c.2674C>T p.Pro892Ser Missense 20/22 -
11-68748425-C-T MRGPRD c.31G>A p.Val11Met Missense 1/1 -
11-68748425-C-G MRGPRD c.31G>C p.Val11Leu Missense 1/1 -
11-108160516-A-G ATM c.4424A>G p.Tyr1475Cys Missense 29/63 -
1-182554743-C-T RNASEL c.1199G>A p.Arg400His Missense 2/7 -
20-61910270-G-C ARFGAP1 c.550G>C p.Val184Leu Missense 7/13 -
7-100692224-C-G MUC17 c.12634C>G p.Gln4212Glu Missense 5/13 -
4-77053834-T-C NUP54 c.605A>G p.Asn202Ser Missense 5/11 -
4-153690842-T-G TIGD4 c.1315A>C p.Ile439Leu Missense 2/2 -
20-62328428-G-T TNFRSF6B c.308G>T p.Arg103Leu Missense 1/3 -
6-31237124-T-G HLA-C c.1087A>C p.Thr363Pro Missense 7/8 -
11-1977552-G-A MRPL23 c.364G>A p.Ala122Thr Missense 5/5 -
17-505105-T-C VPS53 c.1061A>G p.Asn354Ser Missense 11/18 -
7-27159136-G-A HOXA3 c.-122C>T - splice_region_variant,5_prime_UTR_variant 1/3 -
2-219756383-C-T WNT10A c.757-1113C>T - IntronicSNV - 3/3
9-130286044-C-T FAM129B c.503G>A p.Arg168His Missense 5/14 -
13-32945172-A-C BRCA2 c.8567A>C p.Glu2856Ala Missense 20/27 -
6-31935567-G-A SKIV2L c.2659G>A p.Asp887Asn Missense 22/28 -
6-31935567-G-T SKIV2L c.2659G>T p.Asp887Tyr Missense 22/28 -
17-41223240-A-G BRCA1 c.4691T>C p.Leu1564Pro Missense 15/23 -
12-96370247-G-A HAL c.1169C>T p.Pro390Leu Missense 19/20 -
5-158244083-C-T EBF1 c.778+6101G>A - IntronicSNV - 8/15
13-20763642-C-T GJB2 c.79G>A p.Val27Ile Missense 2/2 -
6-153043035-G-A MYCT1 c.355G>A p.Gly119Ser Missense 2/2 -
6-1395062-G-A FOXF2 c.1303G>A p.Val435Ile Missense 2/2 -
6-31743959-G-A VWA7 c.295C>T p.Arg99Trp Missense 3/17 -
19-16908639-C-T NWD1 c.3401C>T p.Ala1134Val Missense 16/19 -
12-82102854-G-A PPFIA2 c.250-32231C>T - IntronicSNV - 2/30
22-40140181-C-T ENTHD1 c.1327G>A p.Gly443Arg Missense 7/7 -
10-90342837-C-G RNLS c.111G>C p.Glu37Asp Missense 1/7 -
20-61867782-G-T BIRC7 c.334G>T p.Gly112Cys Missense 1/7 -
20-61867782-G-A BIRC7 c.334G>A p.Gly112Ser Missense 1/7 -
3-44871505-A-T KIF15 c.2986A>T p.Thr996Ser Missense 25/35 -
X-9693808-A-G GPR143 c.1193T>C p.Leu398Pro Missense 9/9 -
3-47447473-C-A PTPN23 c.483C>A p.Phe161Leu Missense 6/25 -
3-47447473-C-T PTPN23 c.483C>T p.Phe161Phe Synonymous 6/25 -
19-57723007-G-A ZNF264 c.542G>A p.Arg181Lys Missense 4/4 -
X-135313034-T-G MAP7D3 c.1451A>C p.Glu484Ala Missense 9/19 -
1-203054980-C-A MYOG c.110G>T p.Arg37Leu Missense 1/3 -
13-32913804-G-T BRCA2 c.5312G>T p.Gly1771Val Missense 11/27 -
12-53088475-G-C KRT77 c.1015C>G p.Arg339Gly Missense 5/9 -
12-53088475-G-A KRT77 c.1015C>T p.Arg339Trp Missense 5/9 -
10-5435683-G-A TUBAL3 c.1138C>T p.Arg380Trp Missense 4/4 -
10-5435683-G-C TUBAL3 c.1138C>G p.Arg380Gly Missense 4/4 -
17-47656000-C-T NXPH3 c.97C>T p.Pro33Ser Missense 2/2 -
13-32915295-G-A BRCA2 c.6803G>A p.Arg2268Lys Missense 11/27 -
6-152534783-A-C SYNE1 c.22458T>G p.Asn7486Lys Missense 123/146 -
12-15734702-C-T PTPRO c.3138C>T p.Asp1046Asp Synonymous 22/26 -
13-32903597-TC-CT BRCA2 c.649_650delTCinsCT p.Ser217Leu Missense 8/27 -
19-44777862-G-A ZNF233 c.1049G>A p.Ser350Asn Missense 5/5 -
4-153690842-T-C TIGD4 c.1315A>G p.Ile439Val Missense 2/2 -
19-9237622-T-C OR7G3 c.5A>G p.Lys2Arg Missense 1/1 -
2-43452618-C-T ZFP36L2 c.325G>A p.Gly109Ser Missense 2/2 -
20-62328428-G-A TNFRSF6B c.308G>A p.Arg103Gln Missense 1/3 -
16-23635348-A-C PALB2 c.2816T>G p.Leu939Trp Missense 8/13 -
2-100686486-T-C AFF3 c.53+34378A>G - IntronicSNV - 3/23
7-97617828-G-A OCM2 c.94C>T p.Gln32* Nonsense 2/4 -
7-100691288-A-T MUC17 c.12427A>T p.Thr4143Ser Missense 4/13 -
X-67283798-G-A OPHN1 c.2056C>T p.Pro686Ser Missense 21/25 -
10-104416647-G-A TRIM8 c.1192G>A p.Gly398Ser Missense 6/6 -
9-125589057-G-T PDCL c.10C>A p.Leu4Ile Missense 2/4 -
5-79809558-G-A FAM151B c.287G>A p.Ser96Asn Missense 3/6 -
5-79809558-G-T FAM151B c.287G>T p.Ser96Ile Missense 3/6 -
10-106025864-C-T GSTO1 c.488C>T p.Thr163Ile Missense 5/6 -
17-48600427-C-A MYCBPAP c.1385C>A - missense_variant 11/19 -
19-51452357-C-T KLK5 c.350G>A p.Arg117His Missense 4/6 -
9-27292474-T-C EQTN c.301A>G p.Asn101Asp Missense 4/8 -
14-60591199-A-G PCNX4 c.1608A>G p.Gln536Gln Synonymous 8/10 -
12-49719584-C-T TROAP c.550C>T p.Pro184Ser Missense 5/15 -
11-108198384-C-G ATM c.6988C>G p.Leu2330Val Missense 48/63 -
1-11097867-C-T MASP2 c.891G>A p.Ala297Ala Synonymous 7/11 -
8-16026115-G-A MSR1 c.482C>T p.Thr161Ile Missense 4/9 -
8-16026115-G-T MSR1 c.482C>A p.Thr161Asn Missense 4/9 -
22-29913278-C-T THOC5 c.1567G>A p.Val523Met Missense 16/20 -
22-29913278-C-G THOC5 c.1567G>C p.Val523Leu Missense 16/20 -
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
10-106025864-C-A GSTO1 c.488C>A p.Thr163Asn Missense 5/6 -
11-6913073-C-T OR2D2 c.659G>A p.Arg220His Missense 1/1 -
11-92703085-T-C MTNR1B c.194T>C p.Val65Ala Missense 1/2 -
5-149001551-A-C ARHGEF37 c.1261A>C p.Met421Leu Missense 9/13 -
19-42260579-G-A CEACAM6 c.136G>A p.Ala46Thr Missense 2/6 -
11-68840399-G-A TPCN2 c.1160G>A p.Gly387Asp Missense 13/25 -
10-104414221-A-G TRIM8 c.571-189A>G - IntronicSNV - 1/5
6-109480241-T-C CEP57L1 c.758T>C p.Ile253Thr Missense 8/11 -
6-119297143-T-A FAM184A c.2522A>T p.His841Leu Missense 12/18 -
17-26686416-G-A TMEM199 c.364G>A p.Val122Ile Missense 3/6 -
14-53124867-C-A ERO1A c.690G>T p.Glu230Asp Missense 10/16 -
16-23632742-C-A PALB2 c.3054G>T p.Glu1018Asp Missense 10/13 -
19-51052073-G-A LRRC4B c.23C>T p.Pro8Leu Missense 2/3 -
22-30074189-T-C NF2 c.1451T>C p.Met484Thr Missense 14/16 -
13-32971167-G-A BRCA2 c.9634G>A p.Gly3212Arg Missense 26/27 -
19-44514828-A-G ZNF230 c.637A>G p.Thr213Ala Missense 5/5 -
19-41782163-G-A HNRNPUL1 c.746G>A p.Ser249Asn Missense 5/15 -
1-94486905-C-T ABCA4 c.4909G>A p.Ala1637Thr Missense 35/50 -
22-29456467-T-C C22orf31 c.368A>G p.Asn123Ser Missense 2/3 -
6-31556295-G-A LST1 c.64G>A p.Ala22Thr Missense 3/3 -
1-236389655-C-A ERO1B c.966G>T p.Glu322Asp Missense 12/16 -
3-44943399-C-A TGM4 c.947C>A p.Thr316Asn Missense 8/14 -
1-3412567-C-A MEGF6 c.3758G>T p.Arg1253Leu Missense 30/37 -
8-23294645-A-C ENTPD4 c.1176T>G p.Phe392Leu Missense 10/13 -
2-71376471-G-A MPHOSPH10 c.1784G>A p.Arg595Gln Missense 10/11 -
6-74491002-G-T CD109 c.1923G>T p.Leu641Phe Missense 17/33 -
16-3627358-C-T NLRC3 c.-377G>A - 5_prime_UTR_variant 1/21 -
22-29107946-A-G CHEK2 c.872T>C p.Ile291Thr Missense 7/16 -
12-49218131-C-T CACNB3 c.382C>T p.Arg128Trp Missense 4/13 -
12-49218131-C-G CACNB3 c.382C>G p.Arg128Gly Missense 4/13 -
5-1344848-A-G CLPTM1L c.109T>C p.Ser37Pro Missense 1/17 -
6-41303995-A-G NCR2 c.223A>G p.Met75Val Missense 2/6 -
14-53124867-C-T ERO1A c.690G>A p.Glu230Glu Synonymous 10/16 -
16-23632742-C-G PALB2 c.3054G>C p.Glu1018Asp Missense 10/13 -
1-202279464-G-T LGR6 c.1390G>T p.Ala464Ser Missense 16/18 -
17-41246062-G-T BRCA1 c.1486C>A p.Arg496Ser Missense 10/23 -
1-19504062-T-C UBR4 c.2530A>G p.Met844Val Missense 19/106 -
7-2289636-C-T NUDT1 c.297C>T p.Asp99Asp Synonymous 3/4 -
13-32972771-C-T BRCA2 c.10121C>T p.Thr3374Ile Missense 27/27 -
1-53377291-C-T ECHDC2 c.224G>A p.Arg75Gln Missense 3/9 -
1-3412567-C-T MEGF6 c.3758G>A p.Arg1253His Missense 30/37 -
19-44303911-G-C LYPD5 c.11C>G p.Pro4Arg Missense 2/5 -
5-149900889-A-G NDST1 c.73A>G p.Ile25Val Missense 2/15 -
1-16255644-C-T SPEN c.2909C>T p.Ala970Val Missense 11/15 -
13-32971167-G-C BRCA2 c.9634G>C p.Gly3212Arg Missense 26/27 -
12-101738482-G-A UTP20 c.4559G>A p.Arg1520His Missense 36/62 -
12-132322812-C-A MMP17 c.232C>A p.Leu78Met Missense 2/10 -
4-108948869-G-A HADH c.662G>A p.Arg221His Missense 6/8 -
19-17671248-C-G COLGALT1 c.463C>G p.Arg155Gly Missense 3/12 -
5-131915574-C-T RAD50 c.572C>T p.Thr191Ile Missense 5/25 -
9-21970916-C-T CDKN2A c.442G>A p.Ala148Thr Missense 2/3 -
9-113259152-T-A SVEP1 c.1743A>T p.Gln581His Missense 8/48 -
16-81076959-A-G ATMIN c.856A>G p.Thr286Ala Missense 4/4 -
19-44039654-G-C ZNF575 c.553G>C p.Ala185Pro Missense 4/4 -
17-41246062-G-A BRCA1 c.1486C>T p.Arg496Cys Missense 10/23 -
6-32168996-C-G NOTCH4 c.4037G>C p.Arg1346Pro Missense 22/30 -
6-32168996-C-T NOTCH4 c.4037G>A p.Arg1346Gln Missense 22/30 -
5-44809408-T-A MRPS30 c.344T>A p.Leu115Gln Missense 1/5 -
16-25753251-T-C HS3ST4 c.734+48779T>C - IntronicSNV - 1/1
16-25753251-T-G HS3ST4 c.734+48779T>G - IntronicSNV - 1/1
2-85893766-C-T SFTPB c.403G>A p.Val135Ile Missense 6/12 -
9-21970916-C-A CDKN2A c.442G>T p.Ala148Ser Missense 2/3 -
9-21970916-C-G CDKN2A c.442G>C p.Ala148Pro Missense 2/3 -
20-62701627-G-A TCEA2 c.451G>A p.Val151Ile Missense 8/11 -
11-68480857-G-A TESMIN c.1039C>T p.Pro347Ser Missense 8/10 -
3-14755667-G-C C3orf20 c.1313+1G>C - IntronicSNV - 8/16
13-32930730-C-T BRCA2 c.7601C>T p.Ala2534Val Missense 15/27 -
13-32930730-C-A BRCA2 c.7601C>A p.Ala2534Glu Missense 15/27 -
13-32930730-C-G BRCA2 c.7601C>G p.Ala2534Gly Missense 15/27 -
22-38482330-AC-AA BAIAP2L2 c.1385_1386delGTinsAA p.Arg462Gln Missense 12/14 -
3-183508714-G-A YEATS2 c.3043G>A p.Ala1015Thr Missense 21/31 -
13-32907407-A-G BRCA2 c.1792A>G p.Thr598Ala Missense 10/27 -
11-102662140-C-T MMP1 c.1120G>A p.Val374Met Missense 8/10 -
6-161006084-G-A LPA c.4283C>T p.Pro1428Leu Missense 26/39 -
5-38264735-A-G EGFLAM c.97+5782A>G - IntronicSNV - 1/21
19-3589461-C-A GIPC3 c.613C>A p.Arg205Arg Synonymous 4/6 -
19-3589461-C-T GIPC3 c.613C>T p.Arg205Trp Missense 4/6 -
21-43529776-G-A UMODL1 c.1624G>A p.Ala542Thr Missense 10/23 -
14-53173920-G-T PSMC6 c.-18G>T - 5_prime_UTR_variant 1/14 -
2-69049941-T-C ARHGAP25 c.1646T>C p.Met549Thr Missense 9/10 -
13-32893321-C-G BRCA2 c.175C>G p.Pro59Ala Missense 3/27 -
13-32893321-C-A BRCA2 c.175C>A p.Pro59Thr Missense 3/27 -
17-59885956-G-A BRIP1 c.790C>T p.Arg264Trp Missense 7/20 -
3-4354581-G-T SETMAR c.157-1G>T - IntronicSNV - 1/2
8-116631660-T-C TRPS1 c.665A>G p.Asn222Ser Missense 3/7 -
22-43654278-G-A SCUBE1 c.674C>T p.Thr225Met Missense 6/22 -
5-109159494-T-A MAN2A1 c.2522T>A p.Phe841Tyr Missense 16/22 -
12-52865517-C-G KRT6C c.756-1G>C - IntronicSNV - 2/8
12-53012029-C-T KRT73 c.280G>A p.Val94Met Missense 1/9 -
11-102816476-T-C MMP13 c.1214A>G p.Tyr405Cys Missense 9/10 -
3-52833219-G-A ITIH3 c.789+112G>A - IntronicSNV - 7/21
19-51957493-T-C SIGLEC8 c.1225A>G p.Ile409Val Missense 6/7 -
19-42355696-C-T DMRTC2 c.1036C>T p.Arg346* Nonsense 9/9 -
19-42473622-C-T ATP1A3 c.2653G>A p.Val885Ile Missense 19/23 -
9-19290794-A-G DENND4C c.721A>G p.Ile241Val Missense 5/32 -
9-19290794-A-C DENND4C c.721A>C p.Ile241Leu Missense 5/32 -
22-43568512-C-T TTLL12 c.1390G>A p.Val464Met Missense 10/14 -
11-43911365-T-C ALKBH3 c.357T>C p.Thr119Thr Synonymous 6/10 -
11-43911365-T-A ALKBH3 c.357T>A p.Thr119Thr Synonymous 6/10 -
2-70015245-AGA-A ANXA4 c.69_70delGA p.Gln23Hisfs*13 Frameshift 3/13 -
19-18650473-G-A FKBP8 c.350C>T p.Pro117Leu Missense 3/9 -
13-32929140-C-A BRCA2 c.7150C>A p.Gln2384Lys Missense 14/27 -
13-32929140-C-G BRCA2 c.7150C>G p.Gln2384Glu Missense 14/27 -
21-44270229-C-T WDR4 c.1166G>A p.Arg389Gln Missense 11/11 -
1-159858278-G-T CFAP45 c.281C>A p.Thr94Lys Missense 4/12 -
1-159858278-G-A CFAP45 c.281C>T p.Thr94Ile Missense 4/12 -
2-242615635-T-G DTYMK c.546A>C p.Lys182Asn Missense 5/5 -
17-4541963-T-C ALOX15 c.559A>G p.Ile187Val Missense 5/14 -
1-213186688-C-G ANGEL2 c.132G>C p.Arg44Ser Missense 2/9 -
6-30889995-A-G VARS2 c.1909A>G p.Thr637Ala Missense 20/30 -
22-37396024-G-C TEX33 c.236C>G p.Ala79Gly Missense 4/6 -
17-28295809-A-G EFCAB5 c.191A>G p.Glu64Gly Missense 4/23 -
7-97821881-T-C LMTK2 c.2104T>C p.Ser702Pro Missense 11/14 -
7-144462990-C-A TPK1 c.98G>T p.Arg33Leu Missense 3/9 -
3-46501168-A-G LTF c.185T>C p.Ile62Thr Missense 2/17 -
15-79277486-C-T RASGRF1 c.3325G>A p.Ala1109Thr Missense 24/28 -
11-108100039-G-A ATM c.320G>A p.Cys107Tyr Missense 4/63 -
11-129724542-C-A TMEM45B c.216C>A p.His72Gln Missense 3/6 -
12-70949014-G-A PTPRB c.5069C>T p.Thr1690Ile Missense 20/34 -
6-109285189-A-G ARMC2 c.2153-194A>G - IntronicSNV - 15/17
5-140736146-A-T PCDHGA1 c.2421+23474A>T - IntronicSNV - 1/3
11-107427713-T-C ALKBH8 c.146A>G p.Asn49Ser Missense 3/12 -
9-107267304-C-T OR13F1 c.761C>T p.Thr254Met Missense 1/1 -
19-48734262-C-T CARD8 c.394G>A p.Val132Ile Missense 8/13 -
19-48734262-C-A CARD8 c.394G>T p.Val132Phe Missense 8/13 -
19-48734262-C-G CARD8 c.394G>C p.Val132Leu Missense 8/13 -
3-189607152-C-A TP63 c.1531C>A p.Pro511Thr Missense 12/14 -
20-31767470-G-A BPIFA2 c.706G>A p.Val236Ile Missense 7/9 -
20-31767470-G-C BPIFA2 c.706G>C p.Val236Leu Missense 7/9 -
3-46501168-A-T LTF c.185T>A p.Ile62Asn Missense 2/17 -
5-140736146-A-G PCDHGA1 c.2421+23474A>G - IntronicSNV - 1/3
1-155255611-C-A HCN3 c.1333C>A p.Arg445Ser Missense 6/8 -
1-155255611-C-T HCN3 c.1333C>T p.Arg445Cys Missense 6/8 -
22-23482658-C-T RSPH14 c.1-51G>A - 5-UTRSNV 2/7 -
4-73924001-T-C COX18 c.832A>G p.Ile278Val Missense 6/6 -
19-44081216-A-C PINLYP c.1-56A>C - IntronicSNV 2/6 -
19-44081216-A-G PINLYP c.1-56A>G - IntronicSNV 2/6 -
11-2181191-C-T INS c.224G>A p.Gly75Asp Missense 3/3 -
X-9900586-G-C SHROOM2 c.3263G>C p.Gly1088Ala Missense 6/10 -
13-32911452-A-T BRCA2 c.2960A>T p.Asn987Ile Missense 11/27 -
13-32911452-A-G BRCA2 c.2960A>G p.Asn987Ser Missense 11/27 -
17-7128292-G-T ACADVL c.1844G>T p.Arg615Leu Missense 20/20 -
17-7128292-G-A ACADVL c.1844G>A p.Arg615Gln Missense 20/20 -
12-100042163-A-G FAM71C c.211A>G p.Met71Val Missense 1/2 -
19-44303911-G-A LYPD5 c.11C>T p.Pro4Leu Missense 2/5 -
17-78972930-G-T CHMP6 c.583G>T p.Ala195Ser Missense 8/8 -
9-124427373-G-T DAB2IP c.41-13584G>T - IntronicSNV - 1/16
15-32347464-T-C CHRNA7 c.195+24224T>C - IntronicSNV - 2/9
19-3624005-G-A CACTIN c.323C>T p.Ser108Leu Missense 2/10 -
7-100675940-A-G MUC17 c.1243A>G p.Thr415Ala Missense 3/13 -
17-41251803-T-C BRCA1 c.536A>G p.Tyr179Cys Missense 7/23 -
7-97860299-G-A TECPR1 c.2256C>T p.His752His Synonymous 15/26 -
19-44501481-A-G ZNF155 c.1472A>G p.Lys491Arg Missense 5/5 -
14-64496749-C-T SYNE2 c.6851C>T p.Ala2284Val Missense 44/116 -
11-284328-G-C NLRP6 c.2300G>C p.Arg767Thr Missense 6/8 -
11-284328-G-A NLRP6 c.2300G>A p.Arg767Lys Missense 6/8 -
5-128302185-G-A SLC27A6 c.355G>A p.Val119Ile Missense 2/11 -
6-134308216-C-G TBPL1 c.*38C>G - 3-UTRSNV 7/7 -
6-134308216-C-T TBPL1 c.*38C>T - 3-UTRSNV 7/7 -
6-44274257-G-A AARS2 c.1162C>T p.Pro388Ser Missense 8/22 -
5-13717471-T-C DNAH5 c.12658A>G p.Thr4220Ala Missense 73/79 -
2-85836126-C-T C2orf68 c.443G>A p.Arg148Gln Missense 4/4 -
17-41244524-C-T BRCA1 c.3024G>A p.Met1008Ile Missense 10/23 -
2-21001160-C-T LDAH c.64G>A p.Glu22Lys Missense 2/7 -
8-25892142-C-T EBF2 c.483-1473G>A - IntronicSNV - 5/15
16-80641994-C-T CDYL2 c.1357G>A p.Ala453Thr Missense 6/7 -
2-44021676-C-T DYNC2LI1 c.401C>T p.Thr134Ile Missense 6/13 -
7-66098373-T-G KCTD7 c.256T>G p.Tyr86Asp Missense 2/4 -
6-152265443-A-G ESR1 c.896A>G p.Lys299Arg Missense 4/8 -
2-43797619-C-T THADA c.2095G>A p.Val699Ile Missense 14/38 -
5-1201806-G-C SLC6A19 c.41G>C p.Arg14Pro Missense 1/12 -
6-31105891-A-G PSORS1C1 c.14-316A>G - IntronicSNV - 3/5
18-72997677-C-T TSHZ1 c.180C>T p.Ser60Ser Synonymous 2/2 -
12-49255829-A-G RND1 c.281T>C p.Ile94Thr Missense 3/5 -
10-126715298-C-T CTBP2 c.58+12268G>A - IntronicSNV - 3/10
5-13901641-A-C DNAH5 c.1772T>G p.Leu591Arg Missense 14/79 -
5-44365545-C-A FGF10 c.325+22915G>T - IntronicSNV - 1/2
6-41196169-G-T TREML4 c.4G>T p.Ala2Ser Missense 1/6 -
20-60768573-C-A MTG2 c.97C>A p.Arg33Arg Synonymous 2/7 -
10-63957780-C-T RTKN2 c.1717G>A p.Gly573Ser Missense 12/12 -
11-65562693-G-A OVOL1 c.685G>A p.Val229Ile Missense 4/4 -
16-23647199-A-G PALB2 c.668T>C p.Ile223Thr Missense 4/13 -
19-58049931-A-G ZNF549 c.1520A>G p.Gln507Arg Missense 3/3 -
X-9621636-C-T TBL1X c.10C>T p.Leu4Phe Missense 4/18 -
7-20691041-A-G ABCB5 c.1-5A>G - IntronicSNV - 3/18
12-55641811-C-T OR6C74 c.740C>T p.Ser247Phe Missense 1/1 -
20-60768573-C-T MTG2 c.97C>T p.Arg33Trp Missense 2/7 -
19-45206624-T-C CEACAM16 c.43T>C p.Phe15Leu Missense 3/7 -
11-65562693-G-T OVOL1 c.685G>T p.Val229Phe Missense 4/4 -
17-47299454-C-A ABI3 c.804C>A p.Asp268Glu Missense 7/8 -
8-16012594-G-C MSR1 c.877C>G p.Arg293Gly Missense 6/9 -
13-32911295-G-T BRCA2 c.2803G>T p.Asp935Tyr Missense 11/27 -
13-32911295-G-C BRCA2 c.2803G>C p.Asp935His Missense 11/27 -
5-149219663-G-A PPARGC1B c.2678G>A p.Arg893Gln Missense 9/12 -
9-135205006-G-C SETX c.1979C>G p.Ala660Gly Missense 10/26 -
17-12915101-T-C ELAC2 c.560-1113A>G - IntronicSNV - 6/22
14-91744435-C-A CCDC88C c.4889G>T p.Arg1630Leu Missense 29/30 -
9-98638273-C-G ERCC6L2 c.1-15C>G - 5-UTRSNV 1/14 -
9-98638273-C-T ERCC6L2 c.1-15C>T - 5-UTRSNV 1/14 -
10-46121704-T-C ZFAND4 c.1567A>G p.Thr523Ala Missense 7/10 -
11-18303533-G-A HPS5 c.3293C>T p.Thr1098Ile Missense 22/23 -
11-130784589-C-A SNX19 c.1246G>T p.Gly416Cys Missense 1/11 -
11-65649676-G-A CTSW c.317G>A p.Arg106Gln Missense 4/10 -
9-113259152-T-G SVEP1 c.1743A>C p.Gln581His Missense 8/48 -
6-129980436-T-A ARHGAP18 c.114-17273A>T - IntronicSNV - 1/14
6-41652566-C-T TFEB c.1244G>A p.Ser415Asn Missense 9/9 -
2-242755734-C-T NEU4 c.89C>T p.Thr30Met Missense 2/4 -
2-103054449-G-A IL18RAP c.730+627G>A - IntronicSNV - 6/11
17-47579431-C-T NGFR c.73C>T p.Leu25Phe Missense 2/6 -
19-51330951-T-G KLK15 c.164A>C p.His55Pro Missense 2/5 -
11-68480857-G-T TESMIN c.1039C>A p.Pro347Thr Missense 8/10 -
2-86260785-C-T POLR1A c.4160G>A p.Arg1387Gln Missense 28/34 -
5-176637240-G-A NSD1 c.1033G>A p.Val345Met Missense 6/24 -
2-85824592-C-T RNF181 c.427C>T p.Arg143* Nonsense 5/5 -
2-85824592-C-G RNF181 c.427C>G p.Arg143Gly Missense 5/5 -
5-176637240-G-T NSD1 c.1033G>T p.Val345Leu Missense 6/24 -
22-29693915-G-A EWSR1 c.1393G>A p.Gly465Ser Missense 13/17 -
2-60720246-C-T BCL11A c.386-24278G>A - IntronicSNV - 2/3
5-136608159-A-T SPOCK1 c.187-5415T>A - IntronicSNV - 2/10
12-7528404-C-T CD163L1 c.2578G>A p.Glu860Lys Missense 10/20 -
5-172571590-A-C BNIP1 c.42A>C p.Gln14His Missense 1/7 -
19-38912609-C-T RASGRP4 c.208G>A p.Asp70Asn Missense 2/17 -
15-41810286-C-T RPAP1 c.3890G>A p.Arg1297His Missense 23/25 -
2-217543728-G-C IGFBP5 c.412C>G p.Arg138Gly Missense 2/4 -
2-121744056-G-A GLI2 c.2159G>A p.Arg720His Missense 13/14 -
15-91354521-G-C BLM c.3961G>C p.Val1321Leu Missense 21/22 -
15-91354521-G-A BLM c.3961G>A p.Val1321Ile Missense 21/22 -
19-1223125-C-T STK11 c.1062C>T p.Phe354Phe Synonymous 8/10 -
19-1223125-C-G STK11 c.1062C>G p.Phe354Leu Missense 8/10 -
6-167754401-A-G TTLL2 c.1013A>G p.Asp338Gly Missense 3/3 -
22-18901008-G-A PRODH c.1558C>T p.His520Tyr Missense 14/15 -
5-109190943-C-T MAN2A1 c.3079C>T p.Pro1027Ser Missense 20/22 -
2-202252539-G-A TRAK2 c.1583C>T p.Thr528Ile Missense 13/16 -
10-104176384-T-G PSD c.412A>C p.Thr138Pro Missense 3/18 -
19-49965986-CGT-AAG ALDH16A1 c.1072_1074delCGTinsAAG p.Arg358Lys Missense 8/17 -
13-32914046-G-T BRCA2 c.5554G>T p.Val1852Phe Missense 11/27 -
13-32914046-G-C BRCA2 c.5554G>C p.Val1852Leu Missense 11/27 -
13-32914046-G-A BRCA2 c.5554G>A p.Val1852Ile Missense 11/27 -
12-96077310-C-A NTN4 c.1358G>T p.Gly453Val Missense 6/10 -
5-58334922-G-T PDE4D c.809-124C>A - IntronicSNV - 5/14
13-32906593-C-A BRCA2 c.978C>A p.Ser326Arg Missense 10/27 -
5-131911535-A-T RAD50 c.280A>T p.Ile94Leu Missense 3/25 -
5-131911535-A-C RAD50 c.280A>C p.Ile94Leu Missense 3/25 -
19-49899076-G-A CCDC155 c.386G>A p.Arg129Gln Missense 5/20 -
22-43831058-G-C MPPED1 c.329G>C p.Gly110Ala Missense 3/7 -
22-45258242-G-T PRR5-ARHGAP8 c.1462G>T - missense_variant 15/15 -
22-45258242-G-C PRR5-ARHGAP8 c.1462G>C - missense_variant 15/15 -
17-27417925-C-T MYO18A c.5207G>A p.Arg1736His Missense 35/42 -
1-114516078-A-G HIPK1 c.3577A>G p.Ile1193Val Missense 16/16 -
2-10566937-G-A HPCAL1 c.572G>A p.Ser191Asn Missense 5/5 -
X-51486790-C-T GSPT2 c.68C>T p.Pro23Leu Missense 1/1 -
17-7577091-G-T TP53 c.847C>A p.Arg283Ser Missense 8/11 -
2-86831051-C-A RNF103-CHMP3 c.132+16402G>T - IntronicSNV - 3/7
17-7577091-G-A TP53 c.847C>T p.Arg283Cys Missense 8/11 -
22-26706747-C-G SEZ6L c.1626C>G p.Ile542Met Missense 7/17 -
22-26706747-C-T SEZ6L c.1626C>T p.Ile542Ile Synonymous 7/17 -
19-17370409-G-T USHBP1 c.901C>A p.Arg301Arg Synonymous 6/13 -
19-17370409-G-A USHBP1 c.901C>T p.Arg301Trp Missense 6/13 -
1-155039441-C-A EFNA4 c.349C>A p.Pro117Thr Missense 2/4 -
1-155039441-C-T EFNA4 c.349C>T p.Pro117Ser Missense 2/4 -
2-202514849-C-T MPP4 c.1421G>A p.Arg474His Missense 19/22 -
10-81146159-G-A ZCCHC24 c.668C>T p.Pro223Leu Missense 4/4 -
19-51850210-C-T ETFB c.814G>A p.Val272Met Missense 4/5 -
20-32873413-G-T AHCY c.1000C>A p.Arg334Ser Missense 9/10 -
20-32873413-G-A AHCY c.1000C>T p.Arg334Cys Missense 9/10 -
6-165711487-G-A C6orf118 c.1040C>T p.Ala347Val Missense 5/9 -
2-70052624-G-T ANXA4 c.943G>T p.Val315Phe Missense 13/13 -
6-31118844-G-A CCHCR1 c.590C>T p.Ala197Val Missense 5/18 -
17-59760963-G-T BRIP1 c.3444C>A p.Asp1148Glu Missense 20/20 -
17-76565555-C-T DNAH17 c.1099G>A p.Glu367Lys Missense 8/81 -
19-39123127-G-A EIF3K c.412G>A p.Val138Ile Missense 5/8 -
4-87653856-G-C PTPN13 c.1795G>C p.Asp599His Missense 12/47 -
4-87653856-G-T PTPN13 c.1795G>T p.Asp599Tyr Missense 12/47 -
8-22885246-G-T TNFRSF10B c.682C>A p.Arg228Ser Missense 7/10 -
6-86199233-A-G NT5E c.1126A>G p.Thr376Ala Missense 6/8 -
11-108143456-C-A ATM c.3161C>A p.Pro1054His Missense 22/63 -
11-108143456-C-G ATM c.3161C>G p.Pro1054Arg Missense 22/63 -
6-31868407-G-A ZBTB12 c.676C>T p.Pro226Ser Missense 2/2 -
12-49745118-G-A DNAJC22 c.859G>A p.Gly287Arg Missense 3/3 -
13-32929387-T-C BRCA2 c.7397T>C p.Val2466Ala Missense 14/27 -
5-1409938-G-A SLC6A3 c.1296C>T p.Thr432Thr Synonymous 10/15 -
18-2724930-A-C SMCHD1 c.2637A>C p.Lys879Asn Missense 21/48 -
18-2724930-A-T SMCHD1 c.2637A>T p.Lys879Asn Missense 21/48 -
11-55945018-C-T OR5J2 c.925C>T p.His309Tyr Missense 1/1 -
9-113132221-G-A SVEP1 c.10676C>T p.Thr3559Met Missense 47/48 -
11-65620368-G-A SNX32 c.1097G>A p.Arg366Gln Missense 12/13 -
11-65620368-G-C SNX32 c.1097G>C p.Arg366Pro Missense 12/13 -
1-182555169-A-T RNASEL c.773T>A p.Leu258His Missense 2/7 -
7-11446658-A-G THSD7A c.3941T>C p.Val1314Ala Missense 21/28 -
8-134107312-G-T SLA c.-319+7485C>A - intron_variant - 1/8
9-130186700-C-G ZNF79 c.1-367C>G - 5-UTRSNV 1/5 -
2-201943624-C-T NDUFB3 c.19C>T p.His7Tyr Missense 2/3 -
8-22398155-A-G PPP3CC c.1379A>G p.Lys460Arg Missense 14/14 -
1-154931757-T-A PYGO2 c.719A>T p.Asn240Ile Missense 3/3 -
16-839269-G-A CHTF18 c.346G>A p.Glu116Lys Missense 3/22 -
10-22209885-C-T DNAJC1 c.379G>A p.Asp127Asn Missense 4/12 -
7-122202593-C-T CADPS2 c.1336-7850G>A - IntronicSNV - 7/29
9-139914819-G-T ABCA2 c.1394C>A p.Ala465Glu Missense 10/49 -
6-33271971-C-T TAPBP c.1234G>A p.Asp412Asn Missense 6/8 -
6-30865148-T-C DDR1 c.2008T>C p.Phe670Leu Missense 14/17 -
7-20825215-A-G SP8 c.221T>C p.Val74Ala Missense 2/2 -
3-169999670-A-G PRKCI c.981A>G p.Arg327Arg Synonymous 11/18 -
1-242159566-C-T MAP1LC3C c.343G>A p.Val115Met Missense 4/4 -
6-31379043-A-G MICA c.520A>G p.Met174Val Missense 3/6 -
19-39225486-G-T CAPN12 c.1711C>A p.Leu571Ile Missense 15/21 -
10-114773927-A-G TCF7L2 c.382-25857A>G - IntronicSNV - 3/13
3-44635975-G-A ZNF660 c.290G>A p.Arg97Gln Missense 3/3 -
12-13102576-G-A GPRC5D c.743C>T p.Thr248Ile Missense 1/3 -
1-204588444-C-T LRRN2 c.677G>A p.Arg226Gln Missense 3/3 -
9-35740902-C-G GBA2 c.946G>C p.Gly316Arg Missense 5/17 -
11-108168053-A-G ATM c.4949A>G p.Asn1650Ser Missense 33/63 -
5-82985739-T-G HAPLN1 c.1-16397A>C - IntronicSNV - 1/4
19-18502835-G-C LRRC25 c.880C>G p.Pro294Ala Missense 2/2 -
10-104597057-C-T CYP17A1 c.62G>A p.Arg21Lys Missense 1/8 -
20-60791316-C-T HRH3 c.1084G>A p.Val362Ile Missense 3/3 -
16-54318172-C-G IRX3 c.1437G>C p.Gln479His Missense 3/4 -
9-139914819-G-A ABCA2 c.1394C>T p.Ala465Val Missense 10/49 -
22-44079728-A-C EFCAB6 c.1150T>G p.Ser384Ala Missense 12/32 -
4-119952955-C-T SYNPO2 c.3025C>T p.Arg1009Trp Missense 4/4 -
5-131926997-G-T RAD50 c.1534G>T p.Ala512Ser Missense 10/25 -
20-32302511-G-C PXMP4 c.145C>G p.Leu49Val Missense 2/4 -
1-201052310-A-T CACNA1S c.1373T>A p.Leu458His Missense 10/44 -
19-38379699-C-A WDR87 c.4495G>T p.Ala1499Ser Missense 6/6 -
12-110009465-G-C MMAB c.185C>G p.Thr62Arg Missense 2/9 -
12-110009465-G-A MMAB c.185C>T p.Thr62Met Missense 2/9 -
17-12896274-C-A ELAC2 c.2222G>T p.Arg741Leu Missense 23/23 -
3-170585827-C-T RPL22L1 c.199G>A p.Val67Ile Missense 3/4 -
17-74625633-C-T ST6GALNAC1 c.292G>A p.Gly98Arg Missense 2/9 -
19-39225486-G-A CAPN12 c.1711C>T p.Leu571Phe Missense 15/21 -
1-204966402-A-G NFASC c.2887A>G p.Ile963Val Missense 25/30 -
10-104129532-G-A GBF1 c.3215G>A p.Arg1072Gln Missense 25/40 -
8-16012620-C-T MSR1 c.851G>A p.Arg284Gln Missense 6/9 -
19-51561871-C-T KLK13 c.569G>A p.Arg190His Missense 4/5 -
15-58476204-T-C AQP9 c.758T>C p.Val253Ala Missense 6/6 -
3-4461747-C-T SUMF1 c.602+1G>A - IntronicSNV - 4/8
16-81095485-G-A C16orf46 c.469C>T p.Arg157* Nonsense 4/4 -
16-81095485-G-C C16orf46 c.469C>G p.Arg157Gly Missense 4/4 -
12-100042040-C-T FAM71C c.88C>T p.Arg30Trp Missense 1/2 -
17-47284752-C-A GNGT2 c.33G>T p.Leu11Phe Missense 3/4 -
12-100042040-C-A FAM71C c.88C>A p.Arg30Arg Synonymous 1/2 -
12-100042040-C-G FAM71C c.88C>G p.Arg30Gly Missense 1/2 -
20-61441901-C-T OGFR c.449C>T p.Thr150Met Missense 5/7 -
17-33313129-C-T LIG3 c.670C>T p.Arg224Trp Missense 3/20 -
2-242065754-C-T PASK c.2576G>A p.Cys859Tyr Missense 10/18 -
11-65408874-G-A SIPA1 c.482G>A p.Gly161Glu Missense 2/16 -
11-65715203-C-T TSGA10IP c.907C>T p.Arg303* Nonsense 3/8 -
5-173426709-G-A C5orf47 c.418G>A p.Val140Ile Missense 3/5 -
19-1058176-A-G ABCA7 c.5057A>G p.Gln1686Arg Missense 37/47 -
18-25532304-T-C CDH2 c.2534A>G p.Asn845Ser Missense 16/16 -
4-106320250-C-A PPA2 c.727G>T p.Val243Leu Missense 8/12 -
11-57428771-A-G CLP1 c.1141A>G p.Thr381Ala Missense 3/3 -
11-74883577-G-T SLCO2B1 c.935G>T p.Arg312Leu Missense 7/14 -
11-74883577-G-A SLCO2B1 c.935G>A p.Arg312Gln Missense 7/14 -
13-99449717-C-T DOCK9 c.5988G>A p.Ala1996Ala Synonymous 54/57 -
19-53747024-C-G ZNF677 c.142G>C p.Asp48His Missense 4/5 -
19-53747024-C-T ZNF677 c.142G>A p.Asp48Asn Missense 4/5 -
17-641131-G-A FAM57A c.252G>A p.Met84Ile Missense 3/5 -
15-56032665-C-G PRTG c.312G>C p.Glu104Asp Missense 2/20 -
7-143826678-C-A OR2A14 c.473C>A p.Pro158His Missense 1/1 -
17-35601623-G-A ACACA c.2512C>T p.Arg838Trp Missense 21/56 -
12-58017860-G-A B4GALNT1 c.*2667C>T - IntergenicSNV 11/11 -
14-75386576-G-A RPS6KL1 c.362C>T p.Pro121Leu Missense 4/12 -
1-67109277-G-C SGIP1 c.334G>C p.Glu112Gln Missense 7/25 -
5-131940620-C-T RAD50 c.2647C>T p.Arg883Cys Missense 16/25 -
12-96422843-C-T LTA4H c.280G>A p.Ala94Thr Missense 2/19 -
20-32685225-C-A EIF2S2 c.531G>T p.Glu177Asp Missense 5/9 -
11-108114727-G-C ATM c.544G>C p.Val182Leu Missense 6/63 -
20-62838961-A-G MYT1 c.412A>G p.Lys138Glu Missense 7/23 -
2-202006096-G-A CFLAR c.606+934G>A - IntronicSNV - 5/9
17-12898186-C-T ELAC2 c.1804G>A p.Val602Met Missense 20/23 -
16-23641340-G-A PALB2 c.2135C>T p.Ala712Val Missense 5/13 -
19-49376683-A-G PPP1R15A c.193A>G p.Arg65Gly Missense 2/3 -
3-172835082-C-T SPATA16 c.440G>A p.Gly147Glu Missense 2/11 -
19-51016200-C-T ASPDH c.101G>A p.Arg34His Missense 2/5 -
13-32911937-A-G BRCA2 c.3445A>G p.Met1149Val Missense 11/27 -
10-5415798-G-T UCN3 c.115G>T p.Ala39Ser Missense 2/2 -
17-36478028-G-C MRPL45 c.680G>C p.Arg227Pro Missense 7/8 -
17-36478028-G-A MRPL45 c.680G>A p.Arg227Gln Missense 7/8 -
12-3039437-G-C TULP3 c.418G>C p.Asp140His Missense 5/11 -
12-3039437-G-A TULP3 c.418G>A p.Asp140Asn Missense 5/11 -
7-45125700-C-T NACAD c.79G>A p.Asp27Asn Missense 2/8 -
6-20156174-T-C MBOAT1 c.100-3174A>G - IntronicSNV - 1/12
6-20156174-T-A MBOAT1 c.100-3174A>T - IntronicSNV - 1/12
20-32162037-G-A CBFA2T2 c.35-32725G>A - IntronicSNV - 1/10
11-1088835-C-T MUC2 c.3620C>T p.Thr1207Ile Missense 26/51 -
19-8564474-G-A PRAM1 c.218C>T p.Pro73Leu Missense 2/10 -
7-15430495-C-A AGMO c.712G>T p.Gly238Cys Missense 7/13 -
4-9943624-C-T SLC2A9 c.640G>A p.Val214Ile Missense 7/13 -
17-59924512-C-T BRIP1 c.577G>A p.Val193Ile Missense 6/20 -
7-120971816-T-C WNT16 c.431T>C p.Met144Thr Missense 3/4 -
10-5415798-G-A UCN3 c.115G>A p.Ala39Thr Missense 2/2 -
13-32906558-T-A BRCA2 c.943T>A p.Cys315Ser Missense 10/27 -
22-18609493-G-A TUBA8 c.748G>A p.Val250Met Missense 4/5 -
17-12899902-C-T ELAC2 c.1501G>A p.Ala501Thr Missense 16/23 -
17-63683-G-A RPH3AL c.908C>T p.Ala303Val Missense 10/10 -
13-32914809-T-C BRCA2 c.6317T>C p.Leu2106Pro Missense 11/27 -
9-136501728-C-A DBH c.235C>A p.Arg79Arg Synonymous 1/12 -
13-32912733-C-T BRCA2 c.4241C>T p.Thr1414Met Missense 11/27 -
1-114444457-C-T AP4B1 c.389G>A p.Arg130Gln Missense 4/11 -
4-110384078-A-G SEC24B c.155A>G p.Gln52Arg Missense 2/23 -
6-117013314-C-T KPNA5 c.235C>T p.Pro79Ser Missense 3/15 -
6-117013314-C-G KPNA5 c.235C>G p.Pro79Ala Missense 3/15 -
2-85820069-A-G VAMP5 c.142-2A>G - IntronicSNV - 2/2
22-40415323-C-T FAM83F c.641C>T p.Thr214Ile Missense 2/5 -
19-35260442-C-T ZNF599 c.37G>A p.Asp13Asn Missense 2/4 -
3-5216072-A-G ARL8B c.484A>G p.Ile162Val Missense 6/7 -
15-23889873-G-C MAGEL2 c.3017C>G p.Thr1006Ser Missense 1/1 -
20-61981048-T-C CHRNA4 c.1715A>G p.Gln572Arg Missense 5/6 -
12-9258857-C-T A2M c.1079G>A p.Arg360Gln Missense 10/36 -
1-15871023-G-C DNAJC16 c.704G>C p.Arg235Pro Missense 5/15 -
10-31137496-T-C ZNF438 c.1838A>G p.Asp613Gly Missense 7/8 -
4-10022947-C-T SLC2A9 c.64-2250G>A - IntronicSNV - 2/12
5-44388688-C-T FGF10 c.97G>A p.Val33Ile Missense 1/3 -
10-5810341-G-A GDI2 c.826C>T p.Arg276Cys Missense 8/11 -
11-65088508-G-A CDC42EP2 c.139G>A p.Gly47Ser Missense 2/2 -
6-116574940-C-T TSPYL4 c.232G>A p.Ala78Thr Missense 1/1 -
15-50904954-T-C TRPM7 c.1843A>G p.Thr615Ala Missense 16/39 -
3-49456758-C-T AMT c.631G>A p.Glu211Lys Missense 6/9 -
20-23030102-C-T THBD c.40G>A p.Gly14Ser Missense 1/1 -
3-49456758-C-G AMT c.631G>C p.Glu211Gln Missense 6/9 -
7-143793035-C-T OR2A12 c.835C>T p.Leu279Phe Missense 1/1 -
6-30675830-T-A MDC1 c.2526A>T p.Arg842Ser Missense 8/15 -
19-53057722-A-G ZNF808 c.1553A>G p.Asn518Ser Missense 5/5 -
6-30675830-T-C MDC1 c.2526A>G p.Arg842Arg Synonymous 8/15 -
3-87294955-C-T CHMP2B c.218C>T p.Thr73Met Missense 3/6 -
5-1463932-G-C LPCAT1 c.1439C>G p.Ala480Gly Missense 14/14 -
5-147505341-G-A SPINK5 c.2885G>A p.Arg962Lys Missense 30/34 -
11-108106435-A-G ATM c.370A>G p.Ile124Val Missense 5/63 -
22-29130456-G-T CHEK2 c.254C>A p.Pro85His Missense 2/16 -
22-29130456-G-C CHEK2 c.254C>G p.Pro85Arg Missense 2/16 -
22-29130456-G-A CHEK2 c.254C>T p.Pro85Leu Missense 2/16 -
16-23635370-C-T PALB2 c.2794G>A p.Val932Met Missense 8/13 -
10-55581779-T-C PCDH15 c.5707A>G p.Ile1903Val Missense 33/33 -
19-44660524-A-G ZNF234 c.355A>G p.Ile119Val Missense 6/6 -
16-23647211-T-C PALB2 c.656A>G p.Asp219Gly Missense 4/13 -
1-206658354-C-A IKBKE c.1193C>A p.Thr398Lys Missense 13/21 -
11-102495959-G-C MMP20 c.92C>G p.Pro31Arg Missense 1/10 -
1-206658354-C-T IKBKE c.1193C>T p.Thr398Met Missense 13/21 -
X-140993264-G-A MAGEC1 c.74G>A p.Cys25Tyr Missense 4/4 -
X-140993264-G-T MAGEC1 c.74G>T p.Cys25Phe Missense 4/4 -
2-63175957-C-G EHBP1 c.2081C>G p.Thr694Ser Missense 14/25 -
12-112037056-C-T ATXN2 c.263G>A p.Arg88Gln Missense 2/25 -
8-16035421-C-T MSR1 c.77G>A p.Arg26His Missense 2/9 -
7-7412808-C-A COL28A1 c.2729G>T p.Arg910Leu Missense 32/35 -
4-22390167-C-T ADGRA3 c.3127G>A p.Val1043Met Missense 19/19 -
12-44130330-G-A PUS7L c.1579C>T p.Arg527Cys Missense 7/9 -
19-38795554-A-G C19orf33 c.271A>G p.Lys91Glu Missense 4/4 -
10-5920195-C-T ANKRD16 c.984G>A p.Gln328Gln Synonymous 7/8 -
10-5920195-C-G ANKRD16 c.984G>C p.Gln328His Missense 7/8 -
18-72344002-G-C ZNF407 c.1027G>C p.Glu343Gln Missense 1/8 -
11-1775352-C-T CTSD c.844G>A p.Gly282Arg Missense 7/9 -
8-87162515-G-A ATP6V0D2 c.814G>A p.Gly272Arg Missense 6/8 -
6-28540989-T-G ZBED9 c.2677A>C p.Ile893Leu Missense 4/4 -
17-41245233-A-G BRCA1 c.2315T>C p.Val772Ala Missense 10/23 -
8-126091074-T-C WASHC5 c.617A>G p.Asn206Ser Missense 6/29 -
11-61908440-T-A INCENP c.1517T>A p.Met506Lys Missense 10/18 -
12-28412372-G-A CCDC91 c.106G>A p.Ala36Thr Missense 3/13 -
17-17942293-C-T ATPAF2 c.35G>A p.Gly12Glu Missense 1/8 -
17-17942293-C-A ATPAF2 c.35G>T p.Gly12Val Missense 1/8 -
17-47797758-C-T FAM117A c.503G>A p.Ser168Asn Missense 4/8 -
15-89169738-G-T AEN c.298G>T p.Gly100Trp Missense 2/4 -
15-89169738-G-A AEN c.298G>A p.Gly100Arg Missense 2/4 -
13-32953971-C-T BRCA2 c.9038C>T p.Thr3013Ile Missense 23/27 -
20-60878783-C-G ADRM1 c.159C>G p.Asp53Glu Missense 2/9 -
1-89726438-G-A GBP5 c.1710C>T p.Leu570Leu Synonymous 12/12 -
12-53073940-G-A KRT1 c.193C>T p.Arg65Trp Missense 1/9 -
19-51527970-C-G KLK11 c.121G>C p.Glu41Gln Missense 3/6 -
6-109764241-A-T SMPD2 c.686A>T p.Lys229Met Missense 8/10 -
11-108098576-C-G ATM c.146C>G p.Ser49Cys Missense 3/63 -
19-438830-T-C SHC2 c.608A>G p.Asn203Ser Missense 4/13 -
17-41243800-C-T BRCA1 c.3748G>A p.Glu1250Lys Missense 10/23 -
17-41243800-C-A BRCA1 c.3748G>T p.Glu1250* Nonsense 10/23 -
6-160952816-T-C LPA c.6068A>G p.Tyr2023Cys Missense 39/39 -
11-76834837-G-A CAPN5 c.1844G>A p.Arg615Gln Missense 13/13 -
2-202252539-G-T TRAK2 c.1583C>A p.Thr528Lys Missense 13/16 -
3-87313540-G-T POU1F1 c.337C>A p.Arg113Arg Synonymous 3/6 -
1-203054980-C-T MYOG c.110G>A p.Arg37Gln Missense 1/3 -
6-161137780-G-A PLG c.772G>A p.Asp258Asn Missense 7/19 -
9-104171770-G-A ZNF189 c.1720G>A p.Asp574Asn Missense 3/3 -
9-104171770-G-T ZNF189 c.1720G>T p.Asp574Tyr Missense 3/3 -
10-22015206-G-T MLLT10 c.1912G>T p.Ala638Ser Missense 15/23 -
3-87313540-G-A POU1F1 c.337C>T p.Arg113Trp Missense 3/6 -
1-22188296-G-A HSPG2 c.4909C>T p.Arg1637Cys Missense 39/97 -
14-68193731-G-A RDH12 c.482G>A p.Arg161Gln Missense 7/9 -
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
6-27279805-G-A POM121L2 c.145C>T p.Pro49Ser Missense 1/1 -
16-2296877-C-T ECI1 c.277G>A p.Gly93Ser Missense 3/7 -
7-66098373-T-C KCTD7 c.256T>C p.Tyr86His Missense 2/4 -
2-202334688-A-G STRADB c.106A>G p.Thr36Ala Missense 4/12 -
18-24441163-G-A AQP4 c.544C>T p.Arg182Trp Missense 3/5 -
6-153431125-C-T RGS17 c.-26+21134G>A - intron_variant - 1/4
22-45767391-C-T SMC1B c.2273G>A p.Arg758Gln Missense 14/25 -
2-189940142-T-C COL5A2 c.1081A>G p.Met361Val Missense 17/54 -
6-36867372-C-T C6orf89 c.173C>T p.Pro58Leu Missense 2/8 -
16-20681229-T-A ACSM1 c.832A>T p.Thr278Ser Missense 5/13 -
16-4790204-C-G C16orf71 c.327C>G p.Asn109Lys Missense 4/10 -
16-4790204-C-T C16orf71 c.327C>T p.Asn109Asn Synonymous 4/10 -
10-93668408-C-T FGFBP3 c.319G>A p.Ala107Thr Missense 2/2 -
3-113721317-C-G CCDC191 c.2047G>C p.Glu683Gln Missense 12/17 -
2-208842154-G-A PLEKHM3 c.767C>T p.Thr256Met Missense 3/8 -
6-36867372-C-A C6orf89 c.173C>A p.Pro58His Missense 2/8 -
6-36867372-C-G C6orf89 c.173C>G p.Pro58Arg Missense 2/8 -
19-10131939-T-A RDH8 c.605T>A p.Leu202Gln Missense 5/6 -
19-10131939-T-C RDH8 c.605T>C p.Leu202Pro Missense 5/6 -
15-51763587-G-A DMXL2 c.7222C>T p.Leu2408Phe Missense 29/43 -
8-16012615-G-A MSR1 c.856C>T p.Pro286Ser Missense 6/9 -
8-16012615-G-T MSR1 c.856C>A p.Pro286Thr Missense 6/9 -
19-44352639-G-A ZNF283 c.1886G>A p.Arg629His Missense 7/7 -
19-44352639-G-T ZNF283 c.1886G>T p.Arg629Leu Missense 7/7 -
12-49392880-C-T DDN c.191G>A p.Arg64His Missense 1/2 -
1-161018422-C-G ARHGAP30 c.2033-277G>C - IntronicSNV - 12/12
22-39996558-A-C CACNA1I c.382A>C p.Met128Leu Missense 3/36 -
11-4791111-T-C OR51F1 c.58A>G - missense_variant 1/1 -
16-87394386-A-G FBXO31 c.341-414T>C - IntronicSNV - 1/8
16-87394386-A-C FBXO31 c.341-414T>G - IntronicSNV - 1/8
19-42128097-C-T CEACAM4 c.469G>A p.Val157Met Missense 3/7 -
17-7671294-G-A DNAH2 c.3752G>A p.Arg1251Gln Missense 23/86 -
10-6005799-G-C IL15RA c.289C>G p.Pro97Ala Missense 3/7 -
6-32097876-G-A FKBPL c.-79C>T - 5_prime_UTR_variant 1/2 -
3-102181131-A-T ZPLD1 c.637A>T p.Thr213Ser Missense 6/11 -
3-102181131-A-G ZPLD1 c.637A>G p.Thr213Ala Missense 6/11 -
7-27872466-A-G JAZF1 c.685T>C p.Phe229Leu Missense 5/5 -
19-18572428-G-A ELL c.704C>T p.Thr235Met Missense 5/12 -
16-84020685-G-T NECAB2 c.460-3414G>T - IntronicSNV - 5/12
11-36614521-C-G RAG2 c.1198G>C p.Asp400His Missense 2/2 -
1-204106337-C-G ETNK2 c.909G>C p.Glu303Asp Missense 6/8 -
21-43529680-G-C UMODL1 c.1528G>C p.Glu510Gln Missense 10/23 -
2-20512016-C-T PUM2 c.329G>A p.Arg110Gln Missense 4/21 -
6-151738516-A-C RMND1 c.1098T>G p.Ser366Arg Missense 10/12 -
17-36059141-T-C HNF1B c.1594A>G p.Met532Val Missense 8/9 -
6-4074822-C-T FAM217A c.134G>A p.Gly45Glu Missense 3/7 -
3-170150360-G-A CLDN11 c.440G>A p.Arg147His Missense 3/3 -
11-108164137-T-C ATM c.4709T>C p.Val1570Ala Missense 31/63 -
12-130897323-C-T RIMBP2 c.2662G>A p.Asp888Asn Missense 16/20 -
19-2426037-C-T TIMM13 c.*909G>A - 3-UTRSNV 3/3 -
2-20888265-A-G LDAH c.787-1411T>C - IntronicSNV - 6/6
17-46804358-G-C HOXB13 c.649C>G p.Arg217Gly Missense 2/2 -
1-201966542-G-A RNPEP c.950G>A p.Arg317His Missense 5/11 -
17-47302083-G-T PHOSPHO1 c.404C>A p.Ala135Glu Missense 3/3 -
13-32937333-A-G BRCA2 c.7994A>G p.Asp2665Gly Missense 18/27 -
12-130897323-C-G RIMBP2 c.2662G>C p.Asp888His Missense 16/20 -
X-7268296-C-T STS c.1746C>T p.Ser582Ser Synonymous 10/10 -
1-203194834-C-T CHIT1 c.220G>A p.Glu74Lys Missense 3/11 -
1-182555149-C-A RNASEL c.793G>T p.Glu265* Nonsense 2/7 -
3-113666020-G-T GRAMD1C c.*1695G>T - 3-UTRSNV 18/18 -
19-57723013-G-A ZNF264 c.548G>A p.Arg183His Missense 4/4 -
11-108121733-G-A ATM c.1541G>A p.Gly514Asp Missense 10/63 -
14-91366563-T-A RPS6KA5 c.1268A>T p.Tyr423Phe Missense 11/17 -
11-28057897-G-A KIF18A c.2263C>T p.His755Tyr Missense 14/17 -
9-32542016-T-C TOPORS c.2507A>G p.Tyr836Cys Missense 3/3 -
13-32968861-T-C BRCA2 c.9292T>C p.Tyr3098His Missense 25/27 -
17-66267235-T-C SLC16A6 c.1066A>G p.Ile356Val Missense 5/6 -
19-11508192-G-A RGL3 c.1846C>T p.Gln616* Nonsense 17/19 -
12-52960917-G-A KRT74 c.1426C>T p.Pro476Ser Missense 9/9 -
22-24717850-A-T SPECC1L c.902A>T p.Asp301Val Missense 5/17 -
22-24717850-A-G SPECC1L c.902A>G p.Asp301Gly Missense 5/17 -
6-109294590-A-G ARMC2 c.2477A>G p.Asp826Gly Missense 18/18 -
2-201784957-G-T ORC2 c.1454C>A p.Thr485Asn Missense 15/18 -
11-2181188-C-T INS c.227G>A p.Ser76Asn Missense 3/3 -
2-201784957-G-A ORC2 c.1454C>T p.Thr485Ile Missense 15/18 -
9-136501728-C-G DBH c.235C>G p.Arg79Gly Missense 1/12 -
21-43187167-G-A RIPK4 c.35C>T p.Ala12Val Missense 1/8 -
9-136501728-C-T DBH c.235C>T p.Arg79Trp Missense 1/12 -
4-110384078-A-C SEC24B c.155A>C p.Gln52Pro Missense 2/23 -
1-227174318-C-T COQ8A c.1824C>T p.Ser608Ser Synonymous 15/15 -
11-65307048-C-T LTBP3 c.3458G>A p.Ser1153Asn Missense 25/27 -
1-10502454-G-A CENPS c.409G>A p.Glu137Lys Missense 5/5 -
13-32910842-A-G BRCA2 c.2350A>G p.Met784Val Missense 11/27 -
2-26418053-C-G HADHA c.1528G>C p.Glu510Gln Missense 15/20 -
7-143793035-C-A OR2A12 c.835C>A p.Leu279Ile Missense 1/1 -
8-16026056-T-C MSR1 c.541A>G p.Ile181Val Missense 4/9 -
11-68853197-G-A TPCN2 c.1897G>A p.Ala633Thr Missense 21/25 -
3-98304403-G-T CPOX c.1054C>A p.Arg352Ser Missense 5/7 -
19-9578028-C-T ZNF560 c.1595G>A p.Arg532His Missense 10/10 -
20-60348084-C-T CDH4 c.422C>T p.Ala141Val Missense 4/16 -
7-7412808-C-G COL28A1 c.2729G>C p.Arg910Pro Missense 32/35 -
7-7412808-C-T COL28A1 c.2729G>A p.Arg910His Missense 32/35 -
3-98304403-G-A CPOX c.1054C>T p.Arg352Cys Missense 5/7 -
19-9578028-C-G ZNF560 c.1595G>C p.Arg532Pro Missense 10/10 -
5-149359991-C-T SLC26A2 c.835C>T p.Arg279Trp Missense 3/3 -
19-39026677-G-A RYR1 c.11557G>A p.Glu3853Lys Missense 82/106 -
11-108098576-C-T ATM c.146C>T p.Ser49Phe Missense 3/63 -
4-95496882-C-T PDLIM5 c.292-212C>T - IntronicSNV - 4/12
8-100994172-T-C RGS22 c.3353A>G p.Glu1118Gly Missense 22/28 -
7-1976457-C-T MAD1L1 c.1673G>A p.Arg558His Missense 17/19 -
7-1976457-C-G MAD1L1 c.1673G>C p.Arg558Pro Missense 17/19 -
20-62707975-G-C RGS19 c.55C>G p.Arg19Gly Missense 3/6 -
20-62707975-G-A RGS19 c.55C>T p.Arg19Trp Missense 3/6 -
X-9900586-G-A SHROOM2 c.3263G>A p.Gly1088Asp Missense 6/10 -
16-23646375-C-A PALB2 c.1492G>T p.Asp498Tyr Missense 4/13 -
16-23646375-C-T PALB2 c.1492G>A p.Asp498Asn Missense 4/13 -
12-53167416-C-A KRT76 c.826G>T p.Glu276* Nonsense 3/9 -
15-72057477-G-A THSD4 c.2708G>A p.Ser903Asn Missense 15/17 -
8-144663466-G-A EEF1D c.1320C>T p.Ser440Ser Synonymous 6/10 -
22-41257393-C-A XPNPEP3 c.64+4144C>A - IntronicSNV - 1/9
19-43414890-C-A PSG6 c.548G>T p.Gly183Val Missense 3/6 -
3-128205754-G-C GATA2 c.121C>G p.Pro41Ala Missense 2/6 -
14-23511579-G-A PSMB11 c.145G>A p.Gly49Ser Missense 1/1 -
1-204587589-C-A LRRN2 c.1532G>T p.Ser511Ile Missense 3/3 -
1-204587589-C-T LRRN2 c.1532G>A p.Ser511Asn Missense 3/3 -
20-33874600-C-T FAM83C c.1982G>A p.Arg661His Missense 4/4 -
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
17-35733072-C-T C17orf78 c.38C>T p.Ser13Phe Missense 1/7 -
17-46939658-C-A CALCOCO2 c.1165C>A p.Pro389Thr Missense 12/13 -
17-46939658-C-G CALCOCO2 c.1165C>G p.Pro389Ala Missense 12/13 -
20-25457055-A-G NINL c.2872T>C p.Trp958Arg Missense 17/24 -
2-197576939-G-A CCDC150 c.1766G>A p.Arg589His Missense 16/28 -
19-44098985-T-C IRGQ c.506A>G p.Gln169Arg Missense 2/3 -
11-102647057-C-T MMP10 c.886G>A p.Asp296Asn Missense 6/10 -
1-114448389-C-T DCLRE1B c.181C>T p.His61Tyr Missense 1/4 -
9-125589057-G-A PDCL c.10C>T p.Leu4Phe Missense 2/4 -
14-21929371-T-G RAB2B c.497A>C p.Asn166Thr Missense 7/7 -
2-43783141-A-G THADA c.2674+343T>C - IntronicSNV - 17/37
5-173317826-A-G CPEB4 c.1090A>G p.Ser364Gly Missense 1/10 -
4-106474097-G-A ARHGEF38 c.175G>A p.Glu59Lys Missense 1/4 -
10-5541277-T-C CALML5 c.125A>G p.Lys42Arg Missense 1/1 -
13-32953550-G-A BRCA2 c.8851G>A p.Ala2951Thr Missense 22/27 -
6-32089142-G-T ATF6B c.470-17C>A - IntronicSNV - 5/17
17-38068621-T-C GSDMB c.365A>G p.Glu122Gly Missense 2/8 -
10-104359204-C-T SUFU c.925C>T p.Arg309Trp Missense 8/12 -
12-49950220-T-C KCNH3 c.2536T>C p.Ser846Pro Missense 13/15 -
19-38742032-G-A PPP1R14A c.370C>T p.Leu124Phe Missense 4/4 -
1-114448389-C-G DCLRE1B c.181C>G p.His61Asp Missense 1/4 -
4-184930646-G-A STOX2 c.655G>A p.Ala219Thr Missense 3/4 -
17-65717525-T-C NOL11 c.344T>C p.Val115Ala Missense 4/18 -
13-32972380-G-C BRCA2 c.9730G>C p.Val3244Leu Missense 27/27 -
13-32972380-G-T BRCA2 c.9730G>T p.Val3244Phe Missense 27/27 -
6-30633386-C-T DHX16 c.791G>A p.Arg264Gln Missense 5/20 -
6-30633386-C-G DHX16 c.791G>C p.Arg264Pro Missense 5/20 -
14-61443539-C-T TRMT5 c.792+693G>A - IntronicSNV - 3/4
17-8273026-G-A KRBA2 c.905C>T p.Ala302Val Missense 2/2 -
5-1225626-T-A SLC6A18 c.34T>A p.Cys12Ser Missense 1/12 -
12-662873-C-T B4GALNT3 c.1784C>T p.Ala595Val Missense 14/20 -
12-50044492-C-G FMNL3 c.1967G>C p.Arg656Pro Missense 17/26 -
13-32915313-G-T BRCA2 c.6821G>T p.Gly2274Val Missense 11/27 -
14-91700405-T-A GPR68 c.990A>T p.Lys330Asn Missense 2/2 -
4-169300938-C-T DDX60L c.4160G>A p.Arg1387Gln Missense 31/38 -
15-50773787-A-G USP8 c.1328A>G p.Asp443Gly Missense 11/20 -
2-242065754-C-A PASK c.2576G>T p.Cys859Phe Missense 10/18 -
17-59926567-C-T BRIP1 c.430G>A p.Ala144Thr Missense 5/20 -
4-106474097-G-T ARHGEF38 c.175G>T p.Glu59* Nonsense 1/4 -
13-32907277-T-G BRCA2 c.1662T>G p.Cys554Trp Missense 10/27 -
8-20107816-G-A LZTS1 c.1208C>T p.Thr403Met Missense 4/4 -
17-41215385-T-C BRCA1 c.5158A>G p.Thr1720Ala Missense 18/23 -
6-33747892-T-C LEMD2 c.995A>G p.Lys332Arg Missense 5/9 -
14-91841069-A-G CCDC88C c.271-15014T>C - IntronicSNV - 3/29
12-27890508-G-A MRPS35 c.669G>A p.Val223Val Synonymous 7/8 -
19-17412365-C-T ABHD8 c.61G>A p.Val21Met Missense 2/5 -
19-17412365-C-A ABHD8 c.61G>T p.Val21Leu Missense 2/5 -
2-169764368-C-T G6PC2 c.847C>T p.Arg283* Nonsense 5/5 -
14-94121728-A-G UNC79 c.6017A>G p.Lys2006Arg Missense 39/50 -
19-57723013-G-T ZNF264 c.548G>T p.Arg183Leu Missense 4/4 -
19-58004563-G-A ZNF419 c.638G>A p.Gly213Asp Missense 5/5 -
4-74702951-C-G CXCL6 c.274C>G p.Leu92Val Missense 3/4 -
1-227946805-C-T SNAP47 c.742C>T p.Pro248Ser Missense 3/5 -
13-32906766-C-G BRCA2 c.1151C>G p.Ser384Cys Missense 10/27 -
2-26455089-G-A HADHA c.512C>T p.Thr171Ile Missense 6/20 -
9-124536561-A-G DAB2IP c.2906A>G p.Asn969Ser Missense 13/17 -
6-154412236-C-T OPRM1 c.793C>T p.Arg265Cys Missense 3/4 -
6-32135136-C-A EGFL8 c.611C>A p.Ala204Glu Missense 7/9 -
6-32135136-C-T EGFL8 c.611C>T p.Ala204Val Missense 7/9 -
13-32914623-G-T BRCA2 c.6131G>T p.Gly2044Val Missense 11/27 -
13-32914623-G-C BRCA2 c.6131G>C p.Gly2044Ala Missense 11/27 -
13-32914623-G-A BRCA2 c.6131G>A p.Gly2044Asp Missense 11/27 -
6-32084485-C-G ATF6B c.1784G>C p.Arg595Pro Missense 16/18 -
1-70896038-T-C CTH c.685T>C p.Cys229Arg Missense 7/12 -
8-126023815-A-G SQLE c.1145A>G p.Asn382Ser Missense 7/11 -
22-50682785-C-T TUBGCP6 c.104G>A p.Arg35Gln Missense 1/25 -
3-169693451-A-G SEC62 c.92A>G p.Asn31Ser Missense 2/8 -
11-134062648-C-A NCAPD3 c.1981G>T p.Asp661Tyr Missense 16/35 -
13-32911278-T-C BRCA2 c.2786T>C p.Leu929Ser Missense 11/27 -
6-123687288-A-T TRDN c.1316T>A p.Ile439Asn Missense 20/21 -
12-12815037-C-T GPR19 c.346G>A p.Val116Ile Missense 4/4 -
19-17476153-T-C PLVAP c.1121A>G p.Gln374Arg Missense 3/6 -
19-17476153-T-G PLVAP c.1121A>C p.Gln374Pro Missense 3/6 -
20-62373707-G-T SLC2A4RG c.699G>T p.Glu233Asp Missense 6/8 -
5-175793395-G-A ARL10 c.196G>A p.Glu66Lys Missense 2/4 -
22-43195045-C-A ARFGAP3 c.1533G>T p.Gln511His Missense 15/16 -
17-41243509-T-A BRCA1 c.4039A>T p.Arg1347* Nonsense 10/23 -
9-136599026-C-G SARDH c.270G>C p.Met90Ile Missense 2/21 -
11-20648364-G-C SLC6A5 c.1371G>C p.Lys457Asn Missense 8/16 -
6-41903798-C-T CCND3 c.759G>A p.Glu253Glu Synonymous 5/5 -
20-30610508-A-G CCM2L c.979A>G p.Ile327Val Missense 6/9 -
4-74005598-A-G ANKRD17 c.2735T>C p.Leu912Pro Missense 15/34 -
7-123152019-C-T IQUB c.376G>A p.Val126Met Missense 2/13 -
19-55526359-A-G GP6 c.954T>C p.Ala318Ala Synonymous 8/8 -
14-69376049-C-G ACTN1 c.580G>C p.Gly194Arg Missense 6/21 -
13-32914236-C-T BRCA2 c.5744C>T p.Thr1915Met Missense 11/27 -
9-140277794-T-A EXD3 c.91A>T p.Thr31Ser Missense 3/22 -
9-140277794-T-C EXD3 c.91A>G p.Thr31Ala Missense 3/22 -
2-201853137-T-A FAM126B c.839A>T p.Asn280Ile Missense 11/12 -
6-41903798-C-G CCND3 c.759G>C p.Glu253Asp Missense 5/5 -
6-41903798-C-A CCND3 c.759G>T p.Glu253Asp Missense 5/5 -
20-30610508-A-T CCM2L c.979A>T p.Ile327Phe Missense 6/9 -
1-182922215-G-C SHCBP1L c.54C>G p.Ser18Arg Missense 1/10 -
19-55526359-A-T GP6 c.954T>A p.Ala318Ala Synonymous 8/8 -
14-69376049-C-T ACTN1 c.580G>A p.Gly194Arg Missense 6/21 -
20-44237357-G-A WFDC9 c.184C>T p.Arg62Cys Missense 4/5 -
17-41243509-T-C BRCA1 c.4039A>G p.Arg1347Gly Missense 10/23 -
16-3642817-C-T SLX4 c.2210G>A p.Arg737His Missense 11/15 -
10-63845583-C-A ARID5B c.1322C>A p.Thr441Asn Missense 9/10 -
10-63845583-C-T ARID5B c.1322C>T p.Thr441Ile Missense 9/10 -
6-136683810-G-C MAP7 c.1304C>G p.Ser435Trp Missense 11/18 -
6-136683810-G-A MAP7 c.1304C>T p.Ser435Leu Missense 11/18 -
17-41106983-T-C AARSD1 c.863A>G p.Asn288Ser Missense 9/12 -
20-60963386-C-G RPS21 c.208C>G p.Leu70Val Missense 5/6 -
11-68703974-G-A IGHMBP2 c.2026G>A p.Gly676Arg Missense 13/15 -
1-204429727-C-T PIK3C2B c.1373G>A p.Arg458Gln Missense 7/34 -
17-41245471-C-T BRCA1 c.2077G>A p.Asp693Asn Missense 10/23 -
12-27916320-G-A MANSC4 c.374C>T p.Pro125Leu Missense 3/3 -
8-16007800-C-A MSR1 c.919G>T p.Asp307Tyr Missense 7/9 -
20-43851523-G-A SEMG2 c.1250G>A p.Arg417His Missense 2/3 -
1-10068261-A-G RBP7 c.283A>G p.Thr95Ala Missense 3/4 -
17-41244465-C-T BRCA1 c.3083G>A p.Arg1028His Missense 10/23 -
17-41245471-C-A BRCA1 c.2077G>T p.Asp693Tyr Missense 10/23 -
11-2424090-C-T TSSC4 c.227C>T p.Thr76Met Missense 3/3 -
2-43553949-T-C THADA c.4344-6270A>G - IntronicSNV - 30/37
2-198631714-G-A BOLL c.481-387C>T - IntronicSNV - 6/10
7-47436435-C-T TNS3 c.986G>A p.Arg329His Missense 16/31 -
7-47436435-C-G TNS3 c.986G>C p.Arg329Pro Missense 16/31 -
7-47436435-C-A TNS3 c.986G>T p.Arg329Leu Missense 16/31 -
3-30682939-G-T TGFBR2 c.170-3300G>T - IntronicSNV - 2/7
3-30682939-G-C TGFBR2 c.170-3300G>C - IntronicSNV - 2/7
19-51527970-C-T KLK11 c.121G>A p.Glu41Lys Missense 3/6 -
1-95363001-T-A CNN3 c.*297A>T - 3-UTRSNV 7/7 -
22-29141906-C-A HSCB c.478C>A p.Gln160Lys Missense 4/6 -
11-129724542-C-T TMEM45B c.216C>T p.His72His Synonymous 3/6 -
17-41246121-T-C BRCA1 c.1427A>G p.His476Arg Missense 10/23 -
17-59885956-G-C BRIP1 c.790C>G p.Arg264Gly Missense 7/20 -
11-108186631-A-G ATM c.6088A>G p.Ile2030Val Missense 41/63 -
13-32972380-G-A BRCA2 c.9730G>A p.Val3244Ile Missense 27/27 -
20-52192637-T-A ZNF217 c.2666A>T p.Asp889Val Missense 3/5 -
20-52192637-T-C ZNF217 c.2666A>G p.Asp889Gly Missense 3/5 -
3-87018099-T-C VGLL3 c.578A>G p.His193Arg Missense 3/4 -
3-87018099-T-A VGLL3 c.578A>T p.His193Leu Missense 3/4 -
6-150052778-A-G NUP43 c.884T>C p.Val295Ala Missense 7/8 -
6-150052778-A-T NUP43 c.884T>A p.Val295Glu Missense 7/8 -
2-152521983-A-G NEB c.5102T>C p.Val1701Ala Missense 42/150 -
11-108198400-C-T ATM c.7004C>T p.Thr2335Ile Missense 48/63 -
2-165552167-T-C COBLL1 c.1849A>G p.Asn617Asp Missense 12/14 -
2-172691260-C-T SLC25A12 c.728G>A p.Arg243Lys Missense 7/18 -
19-44669960-T-C ZNF226 c.-47T>C - splice_region_variant,5_prime_UTR_variant 2/6 -
22-24567910-C-T CABIN1 c.5987C>T p.Pro1996Leu Missense 34/37 -
10-22607901-C-T COMMD3-BMI1 c.364C>T p.His122Tyr Missense 5/14 -
1-182551266-C-T RNASEL c.1694G>A p.Arg565His Missense 4/7 -
17-12898323-T-A ELAC2 c.1745A>T p.Glu582Val Missense 19/23 -
17-12898323-T-C ELAC2 c.1745A>G p.Glu582Gly Missense 19/23 -
5-131911520-G-A RAD50 c.265G>A p.Val89Ile Missense 3/25 -
17-54559801-G-A ANKFN1 c.2185G>A p.Asp729Asn Missense 17/17 -
10-103988612-G-T ELOVL3 c.416G>T p.Arg139Leu Missense 4/4 -
10-103988612-G-A ELOVL3 c.416G>A p.Arg139Gln Missense 4/4 -
8-95183191-G-A CDH17 c.806C>T p.Ala269Val Missense 8/18 -
13-32937488-G-A BRCA2 c.8149G>A p.Ala2717Thr Missense 18/27 -
21-46950811-C-A SLC19A1 c.1024G>T p.Val342Phe Missense 4/6 -
11-108170506-A-C ATM c.5071A>C p.Ser1691Arg Missense 34/63 -
6-30633386-C-A DHX16 c.791G>T p.Arg264Leu Missense 5/20 -
11-129782042-C-T PRDM10 c.2920G>A p.Ala974Thr Missense 18/21 -
7-100014711-T-C ZCWPW1 c.457A>G p.Thr153Ala Missense 6/18 -
16-23641461-C-G PALB2 c.2014G>C p.Glu672Gln Missense 5/13 -
2-196866420-C-T DNAH7 c.1152G>A p.Thr384Thr Synonymous 11/65 -
22-41166855-G-A SLC25A17 c.907C>T p.Arg303Cys Missense 9/9 -
22-41166855-G-C SLC25A17 c.907C>G p.Arg303Gly Missense 9/9 -
15-89837098-A-G FANCI c.2326A>G p.Met776Val Missense 23/37 -
7-15725995-G-A MEOX2 c.33C>T p.Ser11Ser Synonymous 1/3 -
16-23641461-C-T PALB2 c.2014G>A p.Glu672Lys Missense 5/13 -
6-152443753-G-A SYNE1 c.26212C>T p.Arg8738Cys Missense 146/146 -
12-112110489-T-C BRAP c.723A>G p.Arg241Arg Synonymous 5/12 -
13-32914371-G-A BRCA2 c.5879G>A p.Cys1960Tyr Missense 11/27 -
X-10180692-C-T CLCN4 c.1293C>T p.Leu431Leu Synonymous 8/11 -
11-1861852-C-T TNNI2 c.152C>T p.Pro51Leu Missense 5/8 -
20-62494241-G-C ABHD16B c.1348G>C p.Val450Leu Missense 1/1 -
7-86990819-A-C CROT c.354A>C p.Glu118Asp Missense 5/18 -
19-16918460-G-A NWD1 c.3800G>A p.Arg1267His Missense 18/19 -
14-60923783-C-T C14orf39 c.1210G>A p.Val404Ile Missense 15/18 -
1-204170801-C-A GOLT1A c.256G>T p.Gly86Cys Missense 3/5 -
1-204170801-C-T GOLT1A c.256G>A p.Gly86Ser Missense 3/5 -
19-38127024-T-C ZFP30 c.418A>G p.Arg140Gly Missense 6/6 -
10-74100811-C-T DNAJB12 c.575G>A - missense_variant 4/8 -
17-35944801-C-T SYNRG c.544G>A p.Asp182Asn Missense 6/22 -
2-31417290-T-G CAPN14 c.935A>C p.Asn312Thr Missense 9/22 -
2-31417290-T-C CAPN14 c.935A>G p.Asn312Ser Missense 9/22 -
1-155233763-C-T CLK2 c.1292G>A p.Arg431His Missense 12/13 -
6-14131902-C-T CD83 c.305C>T p.Ser102Leu Missense 3/5 -
8-39862893-T-A IDO2 c.754T>A p.Ser252Thr Missense 9/11 -
20-32251396-A-G NECAB3 c.388-3195T>C - IntronicSNV - 5/12
19-56370608-A-G NLRP4 c.1849A>G p.Ser617Gly Missense 3/10 -
22-39138332-G-T SUN2 c.1105C>A p.Arg369Ser Missense 9/18 -
11-2321829-C-T C11orf21 c.206G>A p.Trp69* Nonsense 3/5 -
17-27959223-C-G SSH2 c.2908G>C p.Glu970Gln Missense 15/15 -
3-124462824-A-G UMPS c.1336A>G p.Ile446Val Missense 6/6 -
13-32914817-G-A BRCA2 c.6325G>A p.Val2109Ile Missense 11/27 -
X-7268296-C-G STS c.1746C>G p.Ser582Arg Missense 10/10 -
10-103920344-G-T NOLC1 c.1235G>T p.Gly412Val Missense 10/13 -
5-1035555-G-A NKD2 c.626G>A p.Arg209Lys Missense 8/10 -
10-6066302-G-A IL2RA c.272C>T p.Thr91Met Missense 3/8 -
19-17638121-G-A FAM129C c.65G>A p.Gly22Glu Missense 2/16 -
16-53860253-G-A FTO c.601G>A p.Val201Ile Missense 3/9 -
17-41223094-T-A BRCA1 c.4837A>T p.Ser1613Cys Missense 15/23 -
11-69588175-G-A FGF4 c.523C>T p.Pro175Ser Missense 3/3 -
17-53076799-G-A STXBP4 c.274G>A p.Gly92Arg Missense 5/18 -
22-43529061-C-T MCAT c.1161G>A p.Glu387Glu Synonymous 4/4 -
14-25102160-C-T GZMB c.164G>A p.Arg55Gln Missense 2/5 -
6-32147691-G-A RNF5 c.310G>A p.Ala104Thr Missense 4/6 -
22-43529061-C-A MCAT c.1161G>T p.Glu387Asp Missense 4/4 -
2-242289584-G-A SEPT2 c.1081G>A p.Val361Met Missense 12/13 -
1-204135325-G-A REN c.97C>T p.Arg33Trp Missense 1/10 -
1-231004221-G-A C1orf198 c.38C>T p.Ser13Leu Missense 1/4 -
5-140762533-C-A PCDHGA1 c.2421+49861C>A - IntronicSNV - 1/3
6-32546879-A-G HLA-DRB1 c.790T>C p.Phe264Leu Missense 6/6 -
12-95602704-C-T FGD6 c.2356G>A p.Ala786Thr Missense 2/21 -
3-93598157-A-G PROS1 c.1494T>C p.Asn498Asn Synonymous 13/15 -
22-43568512-C-G TTLL12 c.1390G>C p.Val464Leu Missense 10/14 -
7-149462627-G-A ZNF467 c.964C>T p.His322Tyr Missense 5/5 -
1-12175658-G-A TNFRSF8 c.818G>A p.Cys273Tyr Missense 8/15 -
19-18980172-G-A GDF1 c.353C>T p.Ala118Val Missense 8/8 -
20-62333231-G-A ARFRP1 c.368C>T p.Ala123Val Missense 6/7 -
3-52830527-A-G ITIH3 c.145A>G p.Lys49Glu Missense 3/22 -
11-113078035-C-T NCAM1 c.681C>T - synonymous_variant 7/20 -
11-61908440-T-C INCENP c.1517T>C p.Met506Thr Missense 10/18 -
6-90899561-G-C BACH2 c.-162+16727C>G - intron_variant - 4/8
5-1880891-C-T IRX4 c.355G>A p.Ala119Thr Missense 3/5 -
5-1880891-C-G IRX4 c.355G>C p.Ala119Pro Missense 3/5 -
14-68193731-G-C RDH12 c.482G>C p.Arg161Pro Missense 7/9 -
19-39098766-G-A MAP4K1 c.1051C>T p.Pro351Ser Missense 14/31 -
11-55322500-C-T OR4C15 c.556C>T - missense_variant 1/1 -
14-105406024-G-C AHNAK2 c.15764C>G p.Ala5255Gly Missense 7/7 -
1-155145097-T-C KRTCAP2 c.245A>G p.Asn82Ser Missense 3/5 -
11-65635806-T-C EFEMP2 c.934A>G p.Thr312Ala Missense 9/11 -
2-27424304-C-T SLC5A6 c.1562G>A p.Arg521Gln Missense 15/17 -
16-23646191-T-C PALB2 c.1676A>G p.Gln559Arg Missense 4/13 -
16-23646191-T-A PALB2 c.1676A>T p.Gln559Leu Missense 4/13 -
19-55748338-G-A PPP6R1 c.1752C>T p.Asn584Asn Synonymous 16/24 -
11-59834583-A-C MS4A3 c.142A>C p.Asn48His Missense 3/5 -
9-124116908-C-T STOM c.209G>A p.Arg70His Missense 3/7 -
18-7231881-A-G LRRC30 c.745A>G p.Ser249Gly Missense 1/1 -
7-134849280-T-A TMEM140 c.87T>A p.Phe29Leu Missense 2/2 -
1-110996652-C-T PROK1 c.142C>T p.Arg48Trp Missense 2/3 -
1-203768328-T-C ZBED6 c.1678T>C p.Phe560Leu Missense 1/1 -
6-31731298-A-G SAPCD1 c.221A>G p.Gln74Arg Missense 2/5 -
1-110996652-C-A PROK1 c.142C>A p.Arg48Arg Synonymous 2/3 -
19-17438569-C-T ANO8 c.2347G>A p.Asp783Asn Missense 14/18 -
5-136816816-C-T SPOCK1 c.186+17246G>A - IntronicSNV - 2/10
4-7436486-C-A PSAPL1 c.121G>T p.Ala41Ser Missense 1/1 -
1-44365241-G-T ST3GAL3 c.793G>T p.Glu265* Nonsense 10/13 -
6-46996760-G-A ADGRF1 c.38C>T p.Thr13Ile Missense 2/15 -
17-41246061-C-T BRCA1 c.1487G>A p.Arg496His Missense 10/23 -
X-3228966-C-G MXRA5 c.7278G>C p.Glu2426Asp Missense 7/7 -
16-53528057-C-T AKTIP c.703G>A p.Ala235Thr Missense 8/10 -
5-70308554-C-A NAIP c.189G>T p.Arg63Ser Missense 4/17 -
8-16032808-A-G MSR1 c.105T>C p.Asn35Asn Synonymous 3/9 -
13-32930633-C-A BRCA2 c.7504C>A p.Arg2502Ser Missense 15/27 -
22-29169729-A-G CCDC117 c.202A>G p.Lys68Glu Missense 2/5 -
17-41246061-C-A BRCA1 c.1487G>T p.Arg496Leu Missense 10/23 -
4-126373018-C-T FAT4 c.10847C>T p.Thr3616Met Missense 9/17 -
2-242814360-T-C RTP5 c.653T>C p.Ile218Thr Missense 2/2 -
17-902207-A-G TIMM22 c.427A>G p.Ile143Val Missense 2/4 -
3-140675500-G-A SLC25A36 c.173G>A p.Arg58Gln Missense 2/7 -
19-44118353-G-A SRRM5 c.2080G>A p.Asp694Asn Missense 1/1 -
3-141011859-G-A PXYLP1 c.1255G>A p.Val419Ile Missense 8/8 -
6-149833318-G-A PPIL4 c.1200C>T p.Asp400Asp Synonymous 12/13 -
14-75322794-G-A PROX2 c.927+710C>T - IntronicSNV - 2/2
16-1536455-C-T PTX4 c.907G>A p.Gly303Ser Missense 3/3 -
13-32914920-C-T BRCA2 c.6428C>T p.Ser2143Leu Missense 11/27 -
13-32914920-C-A BRCA2 c.6428C>A p.Ser2143* Nonsense 11/27 -
13-32914920-C-G BRCA2 c.6428C>G p.Ser2143* Nonsense 11/27 -
3-30713834-G-A TGFBR2 c.1234G>A p.Val412Met Missense 5/8 -
3-30713834-G-T TGFBR2 c.1234G>T p.Val412Leu Missense 5/8 -
19-44571300-G-A ZNF223 c.1319G>A p.Arg440Gln Missense 5/5 -
5-134343662-G-A CATSPER3 c.508G>A p.Val170Met Missense 4/8 -
12-53624954-C-G RARG c.-144G>C - splice_region_variant,5_prime_UTR_variant 2/10 -
12-53624954-C-A RARG c.-144G>T - splice_region_variant,5_prime_UTR_variant 2/10 -
12-53624954-C-T RARG c.-144G>A - splice_region_variant,5_prime_UTR_variant 2/10 -
11-108106399-G-A ATM c.334G>A p.Ala112Thr Missense 5/63 -
11-69514056-C-T FGF19 c.625G>A p.Val209Met Missense 3/3 -
5-151784533-C-A NMUR2 c.142G>T p.Val48Leu Missense 1/4 -
19-44103288-C-T ZNF576 c.391C>T p.Arg131Cys Missense 3/3 -
6-111901465-G-T TRAF3IP2 c.957C>A p.Ser319Arg Missense 3/9 -
10-22498209-A-G EBLN1 c.704T>C p.Met235Thr Missense 1/1 -
1-156713558-G-T HDGF c.602C>A p.Pro201His Missense 5/6 -
8-23148940-G-A R3HCC1 c.919G>A - missense_variant 5/8 -
22-50303554-T-C ALG12 c.652A>G p.Ile218Val Missense 5/10 -
11-108128246-T-A ATM c.2289T>A p.Phe763Leu Missense 15/63 -
11-102562624-G-T MMP27 c.1415C>A p.Ser472* Nonsense 10/10 -
11-102562624-G-C MMP27 c.1415C>G p.Ser472* Nonsense 10/10 -
6-32816772-C-G TAP1 c.1552G>C p.Val518Leu Missense 6/11 -
14-37132769-G-C PAX9 c.631+41G>C - IntronicSNV - 3/4
14-53372330-T-C FERMT2 c.392-12185A>G - IntronicSNV - 3/14
3-38355325-G-A SLC22A14 c.1271G>A p.Arg424Gln Missense 7/10 -
20-60878783-C-T ADRM1 c.159C>T p.Asp53Asp Synonymous 2/9 -
2-188332602-T-C TFPI c.686A>G p.Asn229Ser Missense 7/8 -
9-21854739-G-A MTAP c.560G>A p.Arg187His Missense 6/8 -
17-649232-C-T GEMIN4 c.2051G>A p.Arg684Gln Missense 2/2 -
5-131923710-G-A RAD50 c.980G>A p.Arg327His Missense 7/25 -
16-23647146-T-C PALB2 c.721A>G p.Asn241Asp Missense 4/13 -
16-23647146-T-G PALB2 c.721A>C p.Asn241His Missense 4/13 -
9-117552885-T-C TNFSF15 c.603A>G p.Val201Val Synonymous 4/4 -
8-33246591-G-C FUT10 c.1102C>G p.Leu368Val Missense 4/5 -
20-61919025-C-T ARFGAP1 c.1021C>T p.Arg341Cys Missense 13/13 -
1-32669645-C-T CCDC28B c.330C>T p.Phe110Phe Synonymous 3/6 -
7-143772205-G-C OR2A25 c.893G>C p.Gly298Ala Missense 1/1 -
22-41257469-T-C XPNPEP3 c.64+4220T>C - IntronicSNV - 1/9
6-32629755-G-A HLA-DQB1 c.650C>T p.Thr217Ile Missense 3/5 -
19-43414890-C-G PSG6 c.548G>C p.Gly183Ala Missense 3/6 -
1-47726087-T-C STIL c.2951A>G p.His984Arg Missense 16/17 -
17-48618243-C-G EPN3 c.1069C>G p.Arg357Gly Missense 7/10 -
17-48618243-C-T EPN3 c.1069C>T p.Arg357* Nonsense 7/10 -
13-51417535-G-A DLEU7 c.248C>T p.Ala83Val Missense 1/2 -
11-76796077-G-A CAPN5 c.145G>A p.Val49Ile Missense 2/13 -
17-8046147-C-A PER1 c.3079G>T p.Val1027Phe Missense 20/23 -
13-51417535-G-C DLEU7 c.248C>G p.Ala83Gly Missense 1/2 -
10-64573956-G-A EGR2 c.442C>T p.Pro148Ser Missense 2/2 -
12-53242695-C-G KRT78 c.20G>C p.Arg7Pro Missense 1/9 -
7-27570906-A-G HIBADH c.757T>C p.Ser253Pro Missense 7/8 -
1-52344157-G-A NRDC c.131C>T p.Pro44Leu Missense 1/33 -
20-32996559-A-G ITCH c.173A>G p.Asn58Ser Missense 4/26 -
7-100681751-A-G MUC17 c.7054A>G p.Ser2352Gly Missense 3/13 -
19-5590371-C-A SAFB2 c.2443G>T p.Gly815Cys Missense 18/21 -
19-5590371-C-T SAFB2 c.2443G>A p.Gly815Ser Missense 18/21 -
8-27457479-C-T CLU c.982G>A p.Asp328Asn Missense 7/9 -
13-32906766-C-T BRCA2 c.1151C>T p.Ser384Phe Missense 10/27 -
12-81661822-C-T PPFIA2 c.3355G>A p.Ala1119Thr Missense 28/31 -
3-141535608-C-T GRK7 c.1378C>T p.Pro460Ser Missense 4/4 -
3-141535608-C-A GRK7 c.1378C>A p.Pro460Thr Missense 4/4 -
12-49318391-G-A FKBP11 c.236C>T p.Thr79Ile Missense 3/6 -
6-90899561-G-A BACH2 c.-162+16727C>T - intron_variant - 4/8
13-32968922-T-C BRCA2 c.9353T>C p.Met3118Thr Missense 25/27 -
2-238725833-A-G RBM44 c.274A>G p.Ser92Gly Missense 3/16 -
3-183508590-A-G YEATS2 c.2919A>G p.Glu973Glu Synonymous 21/31 -
13-32968922-T-G BRCA2 c.9353T>G p.Met3118Arg Missense 25/27 -
1-228548255-G-C OBSCN c.19662G>C p.Leu6554Phe Missense 81/81 -
18-13057655-C-T CEP192 c.4180C>T p.Leu1394Phe Missense 20/45 -
1-154898899-C-T PMVK c.373G>A p.Val125Met Missense 4/5 -
19-19042397-G-T HOMER3 c.728C>A p.Thr243Asn Missense 8/10 -
1-155110700-G-C SLC50A1 c.609G>C p.Trp203Cys Missense 6/6 -
2-21228386-G-C APOB c.11354C>G p.Thr3785Arg Missense 26/29 -
19-44056341-T-C XRCC1 c.910A>G p.Thr304Ala Missense 9/17 -
16-23647569-G-C PALB2 c.298C>G p.Leu100Val Missense 4/13 -
16-23647569-G-A PALB2 c.298C>T p.Leu100Phe Missense 4/13 -
16-27772891-C-T KIAA0556 c.3789C>T p.Asp1263Asp Synonymous 19/28 -
19-18304123-G-A MPV17L2 c.32G>A p.Arg11His Missense 1/5 -
1-179398726-A-G AXDND1 c.1304A>G p.Lys435Arg Missense 13/26 -
11-108141988-T-C ATM c.2932T>C p.Ser978Pro Missense 20/63 -
18-13057655-C-G CEP192 c.4180C>G p.Leu1394Val Missense 20/45 -
6-117686781-A-G ROS1 c.2936T>C p.Val979Ala Missense 19/43 -
2-21228386-G-A APOB c.11354C>T p.Thr3785Ile Missense 26/29 -
X-9814135-G-A SHROOM2 c.166-27557G>A - IntronicSNV - 1/9
17-41215948-G-T BRCA1 c.5095C>A p.Arg1699Arg Synonymous 17/23 -
17-41215948-G-A BRCA1 c.5095C>T p.Arg1699Trp Missense 17/23 -
6-32123494-G-A PPT2 c.385G>A p.Val129Ile Missense 4/9 -
2-172841213-C-T HAT1 c.941C>T p.Ala314Val Missense 9/11 -
1-179398726-A-T AXDND1 c.1304A>T p.Lys435Met Missense 13/26 -
1-154941263-G-C SHC1 c.614C>G p.Ala205Gly Missense 3/12 -
1-154941263-G-A SHC1 c.614C>T p.Ala205Val Missense 3/12 -
6-149918748-G-A KATNA1 c.1045C>T p.Pro349Ser Missense 9/11 -
12-44130330-G-T PUS7L c.1579C>A p.Arg527Ser Missense 7/9 -
16-23634435-A-G PALB2 c.2851T>C p.Ser951Pro Missense 9/13 -
6-31864538-G-A EHMT2 c.173C>T p.Ser58Phe Missense 3/28 -
2-120889198-A-T EPB41L5 c.1506A>T p.Leu502Phe Missense 18/25 -
2-120889198-A-C EPB41L5 c.1506A>C p.Leu502Phe Missense 18/25 -
11-62381076-C-T ROM1 c.323C>T p.Thr108Met Missense 1/3 -
6-30892377-G-C VARS2 c.2673+40G>C - IntronicSNV - 26/29