PMID: 21829388

Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

PLoS genetics
RS Fehrmann, RC Jansen, JH Veldink, HJ Westra, D Arends, MJ Bonder, J Fu, P Deelen, HJ Groen, A Smolonska, RK Weersma, RM Hofstra, WA Buurman, S Rensen, MG Wolfs, M Platteel, A Zhernakova, CC Elbers, EM Festen, G Trynka, MH Hofker, CG Saris, RA Ophoff, LH van den Berg, DA van Heel, C Wijmenga, GJ Te Meerman, L Franke
2011-08

584 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-31313253-C-T ITGAM c.1707+3978C>T - IntronicSNV - 14/29
15-67458639-T-C SMAD3 c.533-478T>C - IntronicSNV - 3/8
11-78091150-C-A GAB2 c.75+37542G>T - IntronicSNV - 1/9
8-57095808-T-C PLAG1 c.-321-3736A>G - intron_variant - 1/4
2-29455738-G-A ALK c.2488-424C>T - IntronicSNV - 14/28
17-33969836-C-T AP2B1 c.1536+842C>T - IntronicSNV - 12/21
18-53155002-A-G TCF4 c.146-23634T>C - IntronicSNV - 3/19
10-71093392-C-T HK1 c.64-10191C>T - IntronicSNV - 1/17
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
10-6472891-G-C PRKCQ c.1846C>G p.Arg616Gly Missense 17/18 -
6-105407999-A-C LIN28B c.198+1838A>C - IntronicSNV - 2/3
1-247600301-A-C NLRP3 c.2669+859A>C - IntronicSNV - 6/8
16-89849480-C-T FANCA c.1501G>A p.Gly501Ser Missense 16/43 -
2-242111332-A-G PPP1R7 c.906+2050A>G - IntronicSNV - 9/9
9-124109921-C-T STOM c.660+372G>A - IntronicSNV - 6/6
17-34146818-C-A TAF15 c.48-210C>A - IntronicSNV - 2/15
12-131621762-A-G ADGRD1 c.2436+203A>G - IntronicSNV - 23/24
5-96129512-A-G ERAP1 c.1068T>C p.Ala356Ala Synonymous 6/20 -
6-30652781-C-G PPP1R18 c.1015G>C p.Gly339Arg Missense 1/3 -
2-56111309-C-T EFEMP1 c.518-2440G>A - IntronicSNV - 5/11
20-1610551-T-A SIRPG c.*3-269A>T - intron_variant - 5/5
12-121420807-G-A HNF1A c.326+3910G>A - IntronicSNV - 1/9
11-840319-C-T POLR2L c.*53G>A - 3-UTRSNV 2/2 -
7-121033121-T-C FAM3C c.-42+3135A>G - intron_variant - 1/9
20-33171772-G-A PIGU c.926+1469C>T - IntronicSNV - 9/11
2-103049074-A-G IL18RAP c.580-4598A>G - IntronicSNV - 5/11
6-24441746-G-A GPLD1 c.2020+4028C>T - IntronicSNV - 20/24
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
6-33542538-A-G BAK1 c.350+537T>C - IntronicSNV - 4/5
4-9923004-G-T SLC2A9 c.728-808C>A - IntronicSNV - 7/12
20-33171772-G-C PIGU c.926+1469C>G - IntronicSNV - 9/11
6-30077229-A-G TRIM31 c.745-404T>C - IntronicSNV - 4/8
1-117104215-A-G CD58 c.70+9310T>C - IntronicSNV - 1/5
3-41912651-G-T ULK4 c.1656+12715C>A - IntronicSNV - 17/36
3-41912651-G-A ULK4 c.1656+12715C>T - IntronicSNV - 17/36
11-810882-G-C RPLP2 c.123+525G>C - IntronicSNV - 2/4
11-810882-G-T RPLP2 c.123+525G>T - IntronicSNV - 2/4
15-84582124-G-A ADAMTSL3 c.1981G>A p.Val661Met Missense 16/30 -
17-33933006-A-C AP2B1 c.279+147A>C - IntronicSNV - 4/21
21-34604557-G-A IFNAR2 c.-84+2036G>A - intron_variant - 1/8
2-160572837-T-C MARCH7 c.-15+3720T>C - intron_variant - 1/9
7-50507893-T-C FIGNL1 c.*5068A>G - IntergenicSNV 4/4 -
4-1078187-G-A RNF212 c.362+1497C>T - IntronicSNV - 5/9
17-42193185-G-A HDAC5 c.22+1677C>T - IntronicSNV - 2/26
10-43612609-C-T RET c.2284+430C>T - IntronicSNV - 12/19
12-56488913-G-A ERBB3 c.1860-128G>A - IntronicSNV - 15/27
6-25870542-T-G SLC17A3 c.1-1927A>C - IntronicSNV - 1/12
12-56369506-A-G RAB5B c.-93+1722A>G - intron_variant - 1/5
12-56369506-A-T RAB5B c.-93+1722A>T - intron_variant - 1/5
1-173565945-C-T SLC9C2 c.357+1098G>A - IntronicSNV - 4/27
2-85806266-C-T VAMP8 c.138C>T p.Asn46Asn Synonymous 2/3 -
1-173457599-A-G PRDX6 c.*597A>G - 3-UTRSNV 5/5 -
6-31379109-G-A MICA c.586G>A p.Glu196Lys Missense 3/6 -
12-108094338-C-T PWP1 c.806+1127C>T - IntronicSNV - 8/14
8-40484239-T-C ZMAT4 c.578-45459A>G - IntronicSNV - 5/6
6-144371265-G-A PLAGL1 c.-616+14323C>T - intron_variant - 1/7
6-31930441-G-T SKIV2L c.1212-50G>T - IntronicSNV - 11/27
12-114795443-G-A TBX5 c.833-1532C>T - IntronicSNV - 7/7
16-309155-C-A FAM234A c.269-327C>A - IntronicSNV - 3/12
2-56096892-A-G EFEMP1 c.1320+963T>C - IntronicSNV - 11/11
15-79235446-T-C CTSH c.91+1787A>G - IntronicSNV - 1/11
1-155310443-C-T ASH1L c.8460+1284G>A - IntronicSNV - 25/27
9-117566440-A-G TNFSF15 c.210+1643T>C - IntronicSNV - 1/3
7-151415041-A-G PRKAG2 c.467-42318T>C - IntronicSNV - 3/15
6-31918860-A-G CFB c.1856-61A>G - IntronicSNV - 14/17
12-121424861-A-G HNF1A c.327-1775A>G - IntronicSNV - 1/9
14-35571651-A-G PPP2R3C c.574-3061T>C - IntronicSNV - 6/12
22-24990213-A-G GGT1 c.-429+10437A>G - intron_variant - 1/15
2-169041386-T-G STK39 c.209-2786A>C - IntronicSNV - 1/17
7-50435777-T-G IKZF1 c.161-8454T>G - intron_variant - 3/7
4-80949829-C-G ANTXR2 c.866+2948G>C - IntronicSNV - 10/16
4-80949829-C-T ANTXR2 c.866+2948G>A - IntronicSNV - 10/16
20-33907161-T-C UQCC1 c.574-4593A>G - IntronicSNV - 7/9
12-121424861-A-T HNF1A c.327-1775A>T - IntronicSNV - 1/9
8-139901178-T-C COL22A1 c.1-5763A>G - IntronicSNV - 1/64
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
12-56502926-C-A PA2G4 c.487-88C>A - IntronicSNV - 5/12
13-101135742-T-C PCCA c.1900-31939T>C - IntronicSNV - 21/23
21-35880072-G-T KCNE1 c.-162+3327C>A - intron_variant - 2/3
2-219943846-G-A NHEJ1 c.589-918C>T - IntronicSNV - 5/7
21-34618089-C-T IFNAR2 c.221+710C>T - IntronicSNV - 4/8
7-158724789-G-C WDR60 c.2546+1583G>C - IntronicSNV - 21/24
6-32809848-G-C PSMB8 c.537+63C>G - IntronicSNV - 4/5
6-32809848-G-A PSMB8 c.537+63C>T - IntronicSNV - 4/5
1-66089782-C-T LEPR c.2673+1118C>T - IntronicSNV - 19/19
1-184020945-G-A TSEN15 c.56G>A p.Gly19Asp Missense 1/4 -
2-160630964-A-G LY75-CD302 c.5420-2400T>C - IntronicSNV - 38/38
7-103527369-C-A RELN c.337+30153G>T - IntronicSNV - 2/64
8-90778513-G-A RIPK2 c.483+789G>A - IntronicSNV - 3/10
11-812188-G-A RPLP2 c.173-347G>A - IntronicSNV - 3/4
18-910635-A-G ADCYAP1 c.*999A>G - 3-UTRSNV 4/4 -
6-32411646-T-G HLA-DRA c.724T>G p.Leu242Val Missense 4/5 -
12-56491880-T-A ERBB3 c.2616+156T>A - IntronicSNV - 21/27
12-56491880-T-G ERBB3 c.2616+156T>G - IntronicSNV - 21/27
17-48274291-T-A COL1A1 c.804+80A>T - IntronicSNV - 11/50
1-21786068-C-T NBPF3 c.134-9113C>T - IntronicSNV - 2/14
19-18288069-A-T IFI30 c.603A>T p.Pro201Pro Synonymous 5/7 -
19-18288069-A-G IFI30 c.603A>G p.Pro201Pro Synonymous 5/7 -
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
7-103527369-C-T RELN c.337+30153G>A - IntronicSNV - 2/64
4-18017730-T-C LCORL c.154+5491A>G - IntronicSNV - 1/6
11-502013-G-A RNH1 c.101+49C>T - IntronicSNV - 2/9
16-47001626-G-A DNAJA2 c.444-68C>T - IntronicSNV - 4/8
9-135618283-A-G AK8 c.1122-15362T>C - IntronicSNV - 11/12
6-32172993-C-T NOTCH4 c.2866-827G>A - IntronicSNV - 18/29
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
2-85924989-C-T GNLY c.427+189C>T - IntronicSNV - 4/4
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
2-234672639-G-T UGT1A1 c.864+2842G>T - IntronicSNV - 1/4
22-24994966-T-C GGT1 c.1-12083T>C - IntronicSNV - 1/15
4-9926967-T-G SLC2A9 c.728-4771A>C - IntronicSNV - 7/12
17-34182341-G-A HEATR9 c.1439C>T p.Ser480Phe Missense 15/15 -
18-60054857-A-C TNFRSF11A c.*2865A>C - 3-UTRSNV 9/9 -
3-101068620-C-T SENP7 c.1658-1725G>A - IntronicSNV - 12/23
18-60054857-A-T TNFRSF11A c.*2865A>T - 3-UTRSNV 9/9 -
14-23861811-A-G MYH6 c.3302T>C p.Val1101Ala Missense 25/39 -
6-160969738-C-G LPA c.4974-47G>C - IntronicSNV - 30/38
11-61655305-A-G FADS3 c.213+3336T>C - IntronicSNV - 1/11
6-168941624-G-C SMOC2 c.464-2681G>C - IntronicSNV - 4/12
6-168941624-G-A SMOC2 c.464-2681G>A - IntronicSNV - 4/12
17-34042190-G-A AP2B1 c.2627-2024G>A - IntronicSNV - 20/21
1-173950282-T-C RC3H1 c.769-135A>G - IntronicSNV - 5/19
16-50756774-C-T NOD2 c.2798+158C>T - IntronicSNV - 8/11
19-55819845-C-T BRSK1 c.2090-162C>T - IntronicSNV - 17/18
16-87991051-A-C BANP c.-69+5930A>C - intron_variant - 1/11
6-33540692-T-A BAK1 c.*888A>T - 3-UTRSNV 6/6 -
6-33540692-T-G BAK1 c.*888A>C - 3-UTRSNV 6/6 -
6-25488583-C-T CARMIL1 c.962-127C>T - IntronicSNV - 12/36
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
16-97354-A-G POLR3K c.*76T>C - 3-UTRSNV 3/3 -
6-31922254-A-C NELFE c.743-35T>G - IntronicSNV - 7/10
15-45698793-T-G SPATA5L1 c.1275+1090T>G - IntronicSNV - 2/7
7-50466304-A-G IKZF1 c.851-1312A>G - intron_variant - 7/7
17-27087929-C-T FAM222B c.83-1035G>A - IntronicSNV - 3/3
16-23634026-A-G PALB2 c.2996+264T>C - IntronicSNV - 9/12
17-34036690-A-G AP2B1 c.2539+363A>G - IntronicSNV - 19/21
10-6472891-G-T PRKCQ c.1846C>A p.Arg616Arg Synonymous 17/18 -
2-231091223-T-G SP140 c.59+605T>G - IntronicSNV - 1/26
6-31129310-C-T TCF19 c.325C>T p.Pro109Ser Missense 3/4 -
19-40008220-A-T SELENOV c.810-1028A>T - IntronicSNV - 1/5
16-23634026-A-C PALB2 c.2996+264T>G - IntronicSNV - 9/12
5-90424279-C-T ADGRV1 c.18433-21568C>T - IntronicSNV - 87/89
10-46024729-A-G MARCH8 c.102+3829T>C - IntronicSNV - 2/6
15-84568158-T-A ADAMTSL3 c.1616-241T>A - IntronicSNV - 14/29
11-589564-T-C PHRF1 c.421-1820T>C - IntronicSNV - 4/17
20-5948227-G-A MCM8 c.1021G>A p.Glu341Lys Missense 9/19 -
1-169099483-A-G ATP1B1 c.648+155A>G - IntronicSNV - 5/5
1-155414768-C-T ASH1L c.5087-5909G>A - IntronicSNV - 4/27
7-150667210-C-T KCNH2 c.307+4589G>A - IntronicSNV - 2/14
7-150667210-C-A KCNH2 c.307+4589G>T - IntronicSNV - 2/14
4-1095281-A-G RNF212 c.172-4654T>C - IntronicSNV - 2/9
17-33920036-A-C AP2B1 c.1-1014A>C - IntronicSNV - 1/21
18-43777831-T-A C18orf25 c.1-18016T>A - IntronicSNV - 1/4
17-33974481-G-A AP2B1 c.1537-3068G>A - IntronicSNV - 12/21
17-33884804-T-C SLFN14 c.278A>G p.Gln93Arg Missense 3/6 -
19-39994711-T-C DLL3 c.653T>C p.Leu218Pro Missense 5/8 -
4-1352685-A-G UVSSA c.1176+3652A>G - IntronicSNV - 7/13
3-58370177-G-T PXK c.388+1750G>T - IntronicSNV - 4/17
11-16902268-C-T PLEKHA7 c.222-9539G>A - IntronicSNV - 3/22
17-9985841-C-T GAS7 c.184-62627G>A - IntronicSNV - 1/13
6-32411523-T-C HLA-DRA c.611-10T>C - IntronicSNV - 3/4
1-196701051-G-T CFH c.2413+3399G>T - IntronicSNV - 15/21
1-196701051-G-A CFH c.2413+3399G>A - IntronicSNV - 15/21
22-31536133-A-T PLA2G3 c.208T>A p.Ser70Thr Missense 1/7 -
16-89726484-G-A SPATA33 c.208+1655G>A - IntronicSNV - 2/2
2-233155110-T-C DIS3L2 c.1660-9640T>C - IntronicSNV - 13/20
16-89726484-G-T SPATA33 c.208+1655G>T - IntronicSNV - 2/2
6-62697746-A-C KHDRBS2 c.337-9629T>G - IntronicSNV - 3/8
6-31111356-C-T CCHCR1 c.1901-166G>A - IntronicSNV - 15/17
12-56518408-T-A ZC3H10 c.*2757T>A - IntergenicSNV 3/3 -
10-91372533-G-A PANK1 c.29-728C>T - IntronicSNV - 1/5
17-2143460-G-T SMG6 c.1-3530C>A - IntronicSNV - 2/11
6-25870542-T-A SLC17A3 c.1-1927A>T - IntronicSNV - 1/12
2-141721142-A-T LRP1B c.2888-11633T>A - IntronicSNV - 18/90
3-141102833-G-A ZBTB38 c.-417+2504G>A - intron_variant - 4/7
6-30987786-A-T MUC22 c.71-5493A>T - IntronicSNV - 2/4
6-30987786-A-G MUC22 c.71-5493A>G - IntronicSNV - 2/4
8-95218579-C-T CDH17 c.-21+2132G>A - intron_variant - 1/17
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
7-50460096-G-A IKZF1 c.850+535G>A - intron_variant - 7/7
6-32811629-G-T PSMB8 c.145C>A p.Gln49Lys Missense 1/6 -
20-4155948-G-A SMOX c.208+38G>A - IntronicSNV - 2/8
7-50458446-G-A IKZF1 c.716-981G>A - intron_variant - 6/7
4-39769586-A-G UBE2K c.300-6868A>G - IntronicSNV - 4/6
7-50470604-T-G IKZF1 c.*2279T>G - 3_prime_UTR_variant 8/8 -
7-50615440-G-A DDC c.1-3657C>T - IntronicSNV - 1/14
16-304803-A-T FAM234A c.268+123A>T - IntronicSNV - 3/12
19-39913634-G-T PLEKHG2 c.1940G>T p.Arg647Leu Missense 18/19 -
19-39913634-G-C PLEKHG2 c.1940G>C p.Arg647Pro Missense 18/19 -
3-169100899-G-C MECOM c.38-1587C>G - IntronicSNV - 1/16
3-169100899-G-A MECOM c.38-1587C>T - IntronicSNV - 1/16
10-104594507-A-G CYP17A1 c.666+35T>C - IntronicSNV - 3/7
7-134708675-A-C AGBL3 c.418+6765A>C - IntronicSNV - 5/16
14-75626042-A-C TMED10 c.226-7196T>G - IntronicSNV - 1/4
15-78908032-A-G CHRNA3 c.377+1334T>C - IntronicSNV - 4/5
4-39769586-A-C UBE2K c.300-6868A>C - IntronicSNV - 4/6
6-32050067-T-G TNXB c.3482A>C p.His1161Pro Missense 9/44 -
6-32050067-T-C TNXB c.3482A>G p.His1161Arg Missense 9/44 -
4-145574844-A-G HHIP c.472+895A>G - IntronicSNV - 2/12
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
19-39979966-G-A TIMM50 c.961-393G>A - intron_variant - 10/10
13-42653437-C-A DGKH c.192+30336C>A - IntronicSNV - 1/29
9-136323754-A-G ADAMTS13 c.4078-342A>G - IntronicSNV - 28/28
19-40008220-A-C SELENOV c.810-1028A>C - IntronicSNV - 1/5
1-68635075-T-C WLS c.380-10145A>G - IntronicSNV - 2/11
17-7633692-C-A DNAH2 c.400-2713C>A - IntronicSNV - 4/85
3-134233092-A-G CEP63 c.222+6964A>G - IntronicSNV - 4/15
19-10397238-C-T ICAM1 c.*1275C>T - 3-UTRSNV 7/7 -
2-43587504-C-T THADA c.4228-16128G>A - IntronicSNV - 29/37
14-79945162-A-G NRXN3 c.429+11417A>G - IntronicSNV - 2/6
12-69757429-T-C YEATS4 c.171+742T>C - IntronicSNV - 2/6
9-117558703-C-T TNFSF15 c.211-2855G>A - IntronicSNV - 1/3
17-7417663-C-T POLR2A c.*167C>T - 3-UTRSNV 29/29 -
6-32408527-C-T HLA-DRA c.82+718C>T - IntronicSNV - 1/4
6-32408527-C-G HLA-DRA c.82+718C>G - IntronicSNV - 1/4
19-39913634-G-A PLEKHG2 c.1940G>A p.Arg647His Missense 18/19 -
6-26501434-G-T BTN1A1 c.1-81G>T - IntergenicSNV 1/8 -
6-160962503-T-C LPA c.5520-290A>G - IntronicSNV - 34/38
2-234180410-A-G ATG16L1 c.708-1202A>G - IntronicSNV - 6/16
12-54687232-A-C NFE2 c.115-67T>G - IntronicSNV - 2/2
21-34616545-A-G IFNAR2 c.97+526A>G - IntronicSNV - 3/8
7-92256905-C-T CDK6 c.648-4505G>A - IntronicSNV - 5/7
12-69744104-C-T LYZ c.301+52C>T - IntronicSNV - 2/3
12-121435587-G-T HNF1A c.1501+119G>T - IntronicSNV - 7/9
2-103009537-C-A IL18R1 c.1112-1392C>A - IntronicSNV - 9/10
2-103009537-C-T IL18R1 c.1112-1392C>T - IntronicSNV - 9/10
1-67653010-G-A IL23R c.491+4368G>A - IntronicSNV - 4/10
1-173449036-G-A PRDX6 c.96-1429G>A - IntronicSNV - 1/4
2-85777270-G-A GGCX c.2085-21C>T - IntronicSNV - 14/14
2-85777270-G-T GGCX c.2085-21C>A - IntronicSNV - 14/14
11-606749-G-A PHRF1 c.1606+153G>A - IntronicSNV - 13/17
16-11166688-C-A CLEC16A c.2116+11809C>A - IntronicSNV - 19/23
20-33975181-C-A UQCC1 c.130-3245G>T - IntronicSNV - 2/9
1-155509107-C-T ASH1L c.1-17797G>A - IntronicSNV - 1/27
16-11238783-G-A CLEC16A c.2641+18780G>A - IntronicSNV - 22/23
13-93323146-T-C GPC5 c.1562-195389T>C - IntronicSNV - 7/7
14-65475540-C-G CHURC1-FNTB c.72-3495C>G - IntronicSNV - 3/12
14-65475540-C-A CHURC1-FNTB c.72-3495C>A - IntronicSNV - 3/12
16-50739582-C-G NOD2 c.541-2184C>G - IntronicSNV - 2/11
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
1-67822377-A-G IL12RB2 c.1258+5605A>G - IntronicSNV - 9/15
1-34359858-G-C CSMD2 c.800+23837C>G - IntronicSNV - 5/69
12-108090518-A-G PWP1 c.613+157A>G - IntronicSNV - 6/14
10-62008708-G-A ANK3 c.798+12909C>T - IntronicSNV - 7/43
6-25820439-C-A SLC17A1 c.208-296G>T - IntronicSNV - 3/12
6-31601843-T-C PRRC2A c.4719+77T>C - IntronicSNV - 18/30
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
6-160326690-A-G MAS1 c.1-1298A>G - IntergenicSNV - 2/2
6-30987176-C-A MUC22 c.71-6103C>A - IntronicSNV - 2/4
12-129300694-C-T SLC15A4 c.547-1079G>A - IntronicSNV - 1/7
11-787679-G-T CEND1 c.*448C>A - 3-UTRSNV 2/2 -
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
1-160852046-T-C ITLN1 c.158-52A>G - IntronicSNV - 3/7
6-31947460-G-T STK19 c.803+130G>T - IntronicSNV - 5/7
6-118578043-G-A SLC35F1 c.478-10115G>A - IntronicSNV - 3/7
6-542159-A-G EXOC2 c.2238+7016T>C - IntronicSNV - 22/27
8-11045161-G-A XKR6 c.764+12924C>T - IntronicSNV - 1/2
8-11045161-G-T XKR6 c.764+12924C>A - IntronicSNV - 1/2
4-1227469-C-T CTBP1 c.195+4502G>A - IntronicSNV - 2/8
22-50966914-T-C TYMP c.516+27A>G - IntronicSNV - 4/9
22-50966914-T-G TYMP c.516+27A>C - IntronicSNV - 4/9
6-31632134-C-A GPANK1 c.122G>T p.Arg41Leu Missense 2/3 -
6-31632134-C-T GPANK1 c.122G>A p.Arg41Gln Missense 2/3 -
8-27456253-T-C CLU c.1165-101A>G - IntronicSNV - 7/8
2-215672546-G-A BARD1 c.158+1590C>T - IntronicSNV - 1/10
19-18309365-A-G RAB3A c.472+170T>C - IntronicSNV - 4/4
5-96129512-A-T ERAP1 c.1068T>A p.Ala356Ala Synonymous 6/20 -
3-186573705-A-G ADIPOQ c.*1212A>G - 3-UTRSNV 3/3 -
3-186573705-A-C ADIPOQ c.*1212A>C - 3-UTRSNV 3/3 -
12-69642315-C-T CPSF6 c.61-2594C>T - IntronicSNV - 1/9
12-69642315-C-A CPSF6 c.61-2594C>A - IntronicSNV - 1/9
12-69642315-C-G CPSF6 c.61-2594C>G - IntronicSNV - 1/9
6-31929014-A-C SKIV2L c.640A>C p.Met214Leu Missense 8/28 -
5-176378574-G-T UIMC1 c.1344C>A p.Thr448Thr Synonymous 9/15 -
16-57060213-C-T NLRC5 c.1358C>T p.Pro453Leu Missense 5/48 -
2-60718043-T-G BCL11A c.386-22075A>C - IntronicSNV - 2/3
12-69771073-G-T YEATS4 c.514+6318G>T - IntronicSNV - 6/6
22-50944163-G-A LMF2 c.856C>T p.Leu286Leu Synonymous 6/14 -
7-134782352-T-C AGBL3 c.2110+15810T>C - IntronicSNV - 15/16
6-30077967-T-C TRIM31 c.744+258A>G - IntronicSNV - 4/8
9-98259703-T-G PTCH1 c.394+8986A>C - IntronicSNV - 2/23
9-98259703-T-A PTCH1 c.394+8986A>T - IntronicSNV - 2/23
12-9910164-G-A CD69 c.65-1149C>T - IntronicSNV - 1/4
7-75173180-A-G HIP1 c.2766+813T>C - IntronicSNV - 27/30
6-30652781-C-T PPP1R18 c.1015G>A p.Gly339Arg Missense 1/3 -
5-106982560-C-T EFNA5 c.125+23630G>A - IntronicSNV - 1/4
16-90037828-G-A CENPBD1 c.503C>T p.Thr168Ile Missense 1/1 -
16-90037828-G-C CENPBD1 c.503C>G p.Thr168Arg Missense 1/1 -
4-1213697-T-C CTBP1 c.548-3704A>G - IntronicSNV - 4/8
4-1213697-T-A CTBP1 c.548-3704A>T - IntronicSNV - 4/8
6-7232186-T-C RREB1 c.3808+46T>C - IntronicSNV - 10/11
6-151936677-G-A CCDC170 c.1810G>A p.Val604Ile Missense 10/11 -
20-19571581-G-C SLC24A3 c.612+5393G>C - IntronicSNV - 6/16
7-154210798-T-C DPP6 c.458-26819T>C - IntronicSNV - 3/25
15-45698793-T-A SPATA5L1 c.1275+1090T>A - IntronicSNV - 2/7
17-33881631-T-C SLFN14 c.1153A>G p.Lys385Glu Missense 4/6 -
21-35880072-G-A KCNE1 c.-162+3327C>T - intron_variant - 2/3
10-81060317-C-A ZMIZ1 c.1809-172C>A - IntronicSNV - 16/24
20-1610551-T-C SIRPG c.*3-269A>G - intron_variant - 5/5
17-72699833-T-C CD300LF c.383-596A>G - IntronicSNV - 2/6
17-72699833-T-A CD300LF c.383-596A>T - IntronicSNV - 2/6
6-30987211-A-G MUC22 c.71-6068A>G - IntronicSNV - 2/4
2-60702766-T-C BCL11A c.386-6798A>G - IntronicSNV - 2/3
20-14388215-C-T MACROD2 c.272-85910C>T - IntronicSNV - 3/16
22-31536133-A-C PLA2G3 c.208T>G p.Ser70Ala Missense 1/7 -
3-101181028-G-A SENP7 c.187-3132C>T - IntronicSNV - 3/23
16-53132804-G-A CHD9 c.-165+43815G>A - intron_variant - 1/38
10-104591393-G-T CYP17A1 c.1140-25C>A - IntronicSNV - 6/7
1-10353112-T-C KIF1B c.1452+932T>C - IntronicSNV - 15/46
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
3-195800547-C-A TFRC c.434+254G>T - IntronicSNV - 4/18
1-207875175-G-C CR1L c.1328+212G>C - IntronicSNV - 9/11
1-207875175-G-T CR1L c.1328+212G>T - IntronicSNV - 9/11
18-43777831-T-G C18orf25 c.1-18016T>G - IntronicSNV - 1/4
20-62318220-T-C RTEL1 c.1421-771T>C - IntronicSNV - 16/34
12-56564811-G-A SMARCC2 c.2347+244C>T - IntronicSNV - 22/29
6-30139699-G-A TRIM15 c.971G>A p.Ser324Asn Missense 7/7 -
20-36154004-T-C BLCAP c.-177+2191A>G - intron_variant - 1/1
17-34065393-A-G RASL10B c.217-2035A>G - IntronicSNV - 2/3
6-32050067-T-A TNXB c.3482A>T p.His1161Leu Missense 9/44 -
11-116732512-G-T SIK3 c.2171+45C>A - intron_variant - 17/23
21-34617729-A-G IFNAR2 c.221+350A>G - IntronicSNV - 4/8
12-121435587-G-A HNF1A c.1501+119G>A - IntronicSNV - 7/9
12-56552960-T-G MYL6 c.32-411T>G - IntronicSNV - 2/6
4-17944840-G-A LCORL c.430+18686C>T - IntronicSNV - 4/6
1-154418879-C-T IL6R c.950-1722C>T - IntronicSNV - 6/9
6-31085770-G-A CDSN c.86-464C>T - IntronicSNV - 1/1
15-74219582-G-A LOXL1 c.458G>A p.Gly153Asp Missense 1/7 -
15-74219582-G-T LOXL1 c.458G>T p.Gly153Val Missense 1/7 -
15-74219582-G-C LOXL1 c.458G>C p.Gly153Ala Missense 1/7 -
3-14558689-A-G GRIP2 c.1479T>C p.Pro493Pro Synonymous 13/25 -
2-211060050-T-G ACADL c.997A>C p.Lys333Gln Missense 9/11 -
1-171949750-T-C DNM3 c.236-7046T>C - IntronicSNV - 2/20
12-56737973-A-G STAT2 c.2103-54T>C - IntronicSNV - 22/23
7-134765148-G-A AGBL3 c.2038+136G>A - IntronicSNV - 14/16
1-201262432-C-G PKP1 c.203-638C>G - IntronicSNV - 1/14
1-201262432-C-T PKP1 c.203-638C>T - IntronicSNV - 1/14
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
12-68596661-T-C IL26 c.364-798A>G - IntronicSNV - 3/4
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
12-121442670-T-A C12orf43 c.452+136A>T - IntronicSNV - 5/5
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
12-121442670-T-C C12orf43 c.452+136A>G - IntronicSNV - 5/5
1-41530871-T-C SCMH1 c.1075+5396A>G - IntronicSNV - 10/15
6-30038352-A-G RNF39 c.*536T>C - 3-UTRSNV 5/5 -
2-85924729-C-T GNLY c.356C>T p.Thr119Ile Missense 4/5 -
12-53727955-G-A SP7 c.21+1455C>T - IntronicSNV - 2/2
1-2553624-T-C MMEL1 c.154+7146A>G - IntronicSNV - 2/23
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
12-53727955-G-C SP7 c.21+1455C>G - IntronicSNV - 2/2
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92
1-172189889-T-G DNM3 c.1660-32824T>G - IntronicSNV - 14/20
5-159356484-T-G ADRA1B c.949+11623T>G - IntronicSNV - 1/1
21-43836390-A-G UBASH3A c.554-161A>G - IntronicSNV - 4/13
3-101106527-A-G SENP7 c.677+11178T>C - IntronicSNV - 6/23
10-50119054-A-G LRRC18 c.765-751T>C - IntronicSNV - 1/1
20-48522330-G-A SPATA2 c.1389C>T p.Cys463Cys Synonymous 3/3 -
22-50959608-C-T NCAPH2 c.933+143C>T - IntronicSNV - 10/19
14-24898751-G-A CBLN3 c.1-491C>T - IntergenicSNV 1/3 -
2-85767735-C-T MAT2A c.92-471C>T - IntronicSNV - 1/8
2-215672546-G-T BARD1 c.158+1590C>A - IntronicSNV - 1/10
2-215672546-G-C BARD1 c.158+1590C>G - IntronicSNV - 1/10
3-169165888-C-T MECOM c.38-66576G>A - IntronicSNV - 1/16
8-31633447-G-A NRG1 c.37+136500G>A - IntronicSNV - 1/11
17-43513441-C-T PLEKHM1 c.*1783G>A - 3-UTRSNV 12/12 -
1-235600129-T-C TBCE c.963+206T>C - IntronicSNV - 11/16
6-31603591-A-G PRRC2A c.5541+65A>G - IntronicSNV - 24/30
15-84582124-G-T ADAMTSL3 c.1981G>T p.Val661Leu Missense 16/30 -
7-100345106-G-C ZAN c.932-67G>C - IntronicSNV - 8/48
1-155505967-G-A ASH1L c.1-14657C>T - IntronicSNV - 1/27
10-62008708-G-C ANK3 c.798+12909C>G - IntronicSNV - 7/43
17-48274291-T-G COL1A1 c.804+80A>C - IntronicSNV - 11/50
7-50546459-G-A DDC c.1021+1026C>T - IntronicSNV - 10/14
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
6-31940897-A-G STK19 c.567+363A>G - IntronicSNV - 3/7
17-33324382-C-T LIG3 c.1824-375C>T - IntronicSNV - 11/19
8-110115676-C-T TRHR c.789+15146C>T - IntronicSNV - 2/2
15-63341996-T-C TPM1 c.240+5645T>C - IntronicSNV - 2/8
15-63341996-T-G TPM1 c.240+5645T>G - IntronicSNV - 2/8
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
6-31860337-T-C EHMT2 c.711A>G p.Ser237Ser Synonymous 7/28 -
6-30544401-A-G ABCF1 c.74-785A>G - IntronicSNV - 1/24
4-159630817-T-C PPID c.*71A>G - 3-UTRSNV 10/10 -
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
11-108097333-A-G ATM c.1-1019A>G - IntronicSNV - 1/62
19-55879872-C-T IL11 c.246G>A p.Ala82Ala Synonymous 3/5 -
19-55879872-C-G IL11 c.246G>C p.Ala82Ala Synonymous 3/5 -
6-29634012-A-G MOG c.520A>G p.Ile174Val Missense 3/8 -
2-218683154-A-T TNS1 c.3589T>A p.Trp1197Arg Missense 24/33 -
6-30127323-G-A TRIM10 c.430-301C>T - IntronicSNV - 1/6
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
16-50756881-A-G NOD2 c.2798+265A>G - IntronicSNV - 8/11
6-30121460-C-T TRIM10 c.*286G>A - 3-UTRSNV 7/7 -
11-118477367-A-G PHLDB1 c.-199A>G - 5_prime_UTR_variant 1/24 -
7-158724789-G-A WDR60 c.2546+1583G>A - IntronicSNV - 21/24
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
6-29634012-A-T MOG c.520A>T p.Ile174Phe Missense 3/8 -
3-49701983-G-A BSN c.11736G>A p.Thr3912Thr Synonymous 9/12 -
11-609888-T-C PHRF1 c.4261+168T>C - IntronicSNV - 14/17
4-9923004-G-A SLC2A9 c.728-808C>T - IntronicSNV - 7/12
2-218683154-A-G TNS1 c.3589T>C p.Trp1197Arg Missense 24/33 -
1-173457599-A-T PRDX6 c.*597A>T - 3-UTRSNV 5/5 -
11-118477367-A-T PHLDB1 c.-199A>T - 5_prime_UTR_variant 1/24 -
17-33872407-G-A SLFN14 c.*2851C>T - IntergenicSNV 6/6 -
11-828916-G-C CRACR2B c.230G>C p.Arg77Pro Missense 2/8 -
11-828916-G-A CRACR2B c.230G>A p.Arg77Gln Missense 2/8 -
6-31112484-C-T CCHCR1 c.1880G>A p.Arg627Gln Missense 15/18 -
17-42193185-G-C HDAC5 c.22+1677C>G - IntronicSNV - 2/26
16-50756774-C-G NOD2 c.2798+158C>G - IntronicSNV - 8/11
12-121175524-T-C ACADS c.473-116T>C - IntronicSNV - 4/9
12-56518408-T-G ZC3H10 c.*2757T>G - IntergenicSNV 3/3 -
20-59853938-A-G CDH4 c.169+23945A>G - IntronicSNV - 2/15
1-68635390-T-C WLS c.380-10460A>G - IntronicSNV - 2/11
22-30529631-C-A HORMAD2 c.819+11428C>A - IntronicSNV - 10/10
22-50957462-C-T NCAPH2 c.731-157C>T - IntronicSNV - 8/19
22-50957462-C-A NCAPH2 c.731-157C>A - IntronicSNV - 8/19
22-50957462-C-G NCAPH2 c.731-157C>G - IntronicSNV - 8/19
10-61413353-A-G SLC16A9 c.1351+80T>C - IntronicSNV - 5/5
1-26521140-G-A CATSPER4 c.459+761G>A - IntronicSNV - 3/9
17-34142362-G-A TAF15 c.8-2358G>A - IntronicSNV - 1/15
19-39914748-G-T PLEKHG2 c.2975G>T p.Arg992Ile Missense 19/19 -
19-39914748-G-C PLEKHG2 c.2975G>C p.Arg992Thr Missense 19/19 -
19-39914748-G-A PLEKHG2 c.2975G>A p.Arg992Lys Missense 19/19 -
9-117049891-T-G COL27A1 c.3988-844T>G - IntronicSNV - 41/60
1-155630752-A-G YY1AP1 c.1135-48T>C - IntronicSNV - 10/10
2-102957716-C-T IL1RL1 c.610+428C>T - IntronicSNV - 5/10
5-1342714-C-A CLPTM1L c.264-739G>T - IntronicSNV - 2/16
6-159465303-T-C TAGAP c.1-125A>G - IntronicSNV 1/10 -
22-40697581-C-T TNRC6B c.1708+244C>T - IntronicSNV - 16/23
1-17722363-G-A PADI6 c.1618+204G>A - intron_variant - 14/16
18-53155002-A-C TCF4 c.146-23634T>G - IntronicSNV - 3/19
11-60760612-C-A CD6 c.50-13434C>A - IntronicSNV - 1/12
1-173724942-A-G KLHL20 c.852-120A>G - IntronicSNV - 5/11
9-98231008-A-G PTCH1 c.2250+25T>C - IntronicSNV - 14/23
17-44828931-G-A NSF c.2106G>A p.Lys702Lys Synonymous 19/21 -
1-196701051-G-C CFH c.2413+3399G>C - IntronicSNV - 15/21
11-16902268-C-A PLEKHA7 c.222-9539G>T - IntronicSNV - 3/22
11-840319-C-G POLR2L c.*53G>C - 3-UTRSNV 2/2 -
2-60718043-T-C BCL11A c.386-22075A>G - IntronicSNV - 2/3
12-121439433-G-A HNF1A c.*438G>A - 3-UTRSNV 10/10 -
1-155478897-T-A ASH1L c.420+11994A>T - IntronicSNV - 2/27
1-155478897-T-C ASH1L c.420+11994A>G - IntronicSNV - 2/27
11-60760612-C-G CD6 c.50-13434C>G - IntronicSNV - 1/12
1-64108771-T-C PGM1 c.1144+4300T>C - IntronicSNV - 7/10
20-33914208-A-G UQCC1 c.574-11640T>C - IntronicSNV - 7/9
21-34618285-G-A IFNAR2 c.222-738G>A - IntronicSNV - 4/8
4-9934744-G-T SLC2A9 c.727+8793C>A - IntronicSNV - 7/12
1-173449036-G-C PRDX6 c.96-1429G>C - IntronicSNV - 1/4
6-29342775-G-A OR12D3 c.290C>T p.Thr97Ile Missense 1/1 -
1-152083325-A-C TCHH c.2368T>G p.Leu790Val Missense 3/3 -
11-131920067-A-T NTM c.168-96109A>T - IntronicSNV - 1/6
19-47207654-G-A PRKD2 c.667-6C>T - IntronicSNV - 4/17
6-30162809-A-G TRIM26 c.765+1484T>C - IntronicSNV - 6/9
19-10213154-G-A ANGPTL6 c.-11+90C>T - intron_variant - 1/5
3-133484029-G-A TF c.1330+278G>A - IntronicSNV - 11/16
3-37518545-T-A ITGA9 c.420+3594T>A - IntronicSNV - 3/27
7-50428445-T-C IKZF1 c.161-15786T>C - intron_variant - 3/7
6-30032522-A-C ZNRD1 c.*48A>C - 3-UTRSNV 5/5 -
19-47208481-T-C PRKD2 c.512-575A>G - IntronicSNV - 3/17
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
7-50425291-A-G IKZF1 c.161-18940A>G - intron_variant - 3/7
5-150458146-C-T TNIP1 c.-37+2295G>A - intron_variant - 1/17
5-150458146-C-A TNIP1 c.-37+2295G>T - intron_variant - 1/17
16-68591230-A-T ZFP90 c.34-671A>T - IntronicSNV - 2/4
16-68591230-A-C ZFP90 c.34-671A>C - IntronicSNV - 2/4
6-30078275-C-T TRIM31 c.694G>A p.Val232Ile Missense 4/9 -
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
3-101054795-T-C SENP7 c.2480+1558A>G - IntronicSNV - 17/23
22-38544298-A-G PLA2G6 c.210-2638T>C - IntronicSNV - 2/15
2-44066247-G-A ABCG8 c.55G>A p.Asp19Asn Missense 1/13 -
11-131920067-A-G NTM c.168-96109A>G - IntronicSNV - 1/6
1-117100957-A-G CD58 c.70+12568T>C - IntronicSNV - 1/5
11-64331462-A-G SLC22A11 c.822-318A>G - IntronicSNV - 4/9
2-60708597-C-T BCL11A c.386-12629G>A - IntronicSNV - 2/3
11-64331462-A-T SLC22A11 c.822-318A>T - IntronicSNV - 4/9
6-31930441-G-C SKIV2L c.1212-50G>C - IntronicSNV - 11/27
6-31930441-G-A SKIV2L c.1212-50G>A - IntronicSNV - 11/27
14-24898751-G-C CBLN3 c.1-491C>G - IntergenicSNV 1/3 -
2-231091223-T-C SP140 c.59+605T>C - IntronicSNV - 1/26
1-174808854-T-C RABGAP1L c.297+27756T>C - IntronicSNV - 2/8
17-33873772-A-G SLFN14 c.*1486T>C - IntergenicSNV 6/6 -
6-38440970-A-G BTBD9 c.950+104406T>C - IntronicSNV - 5/9
11-5221825-G-A OR51V1 c.106C>T p.Leu36Phe Missense 1/1 -
11-5221825-G-C OR51V1 c.106C>G p.Leu36Val Missense 1/1 -
2-204272090-C-T ABI2 c.992-3918C>T - IntronicSNV - 7/9
6-31129707-C-T TCF19 c.722C>T p.Pro241Leu Missense 3/4 -
7-2869985-T-C GNA12 c.309+13502A>G - IntronicSNV - 1/3
11-825110-A-G PNPLA2 c.*248A>G - 3-UTRSNV 10/10 -
1-67702526-T-G IL23R c.1045+41T>G - IntronicSNV - 8/10
1-45371160-G-A EIF2B3 c.567-8044C>T - IntronicSNV - 5/11
4-9934744-G-A SLC2A9 c.727+8793C>T - IntronicSNV - 7/12
16-58567238-A-G CNOT1 c.5895+813T>C - IntronicSNV - 40/48
7-50428428-C-A IKZF1 c.161-15803C>A - intron_variant - 3/7
7-50428428-C-T IKZF1 c.161-15803C>T - intron_variant - 3/7
5-94154588-T-C MCTP1 c.2437-19751A>G - IntronicSNV - 17/22
7-100345106-G-A ZAN c.932-67G>A - IntronicSNV - 8/48
1-248039713-A-G TRIM58 c.1383A>G p.Thr461Thr Synonymous 6/6 -
6-31093587-G-A PSORS1C1 c.-94G>A - 5_prime_UTR_variant 2/6 -
21-44478497-C-T CBS c.1359-134G>A - IntronicSNV - 14/16
17-7633692-C-T DNAH2 c.400-2713C>T - IntronicSNV - 4/85
16-31368874-T-C ITGAX c.430+189T>C - IntronicSNV - 5/29
21-43836186-G-A UBASH3A c.554-365G>A - IntronicSNV - 4/13
4-9935910-A-G SLC2A9 c.727+7627T>C - IntronicSNV - 7/12
8-31633447-G-T NRG1 c.37+136500G>T - IntronicSNV - 1/11
16-57065556-C-T NLRC5 c.2477+181C>T - IntronicSNV - 10/47
7-50560255-C-A DDC c.944+2793G>T - IntronicSNV - 9/14
6-167437988-C-T FGFR1OP c.807-282C>T - IntronicSNV - 8/12
19-55872191-G-A FAM71E2 c.811+30C>T - IntronicSNV - 7/10
7-50438720-G-T IKZF1 c.161-5511G>T - intron_variant - 3/7
2-43540125-T-G THADA c.4438+7460A>C - IntronicSNV - 31/37
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
12-9833628-C-T CLEC2D c.171C>T p.Ser57Ser Synonymous 2/5 -
1-227797950-A-G ZNF678 c.123+27643A>G - IntronicSNV - 2/3
6-33540692-T-C BAK1 c.*888A>G - 3-UTRSNV 6/6 -
19-2170954-A-T DOT1L c.81+6690A>T - IntronicSNV - 1/27
11-117037361-A-G PAFAH1B2 c.412-776A>G - IntronicSNV - 5/5
5-75920972-A-G IQGAP2 c.1522-2263A>G - IntronicSNV - 13/35
3-195800547-C-T TFRC c.434+254G>A - IntronicSNV - 4/18
2-60719970-C-A BCL11A c.386-24002G>T - IntronicSNV - 2/3
1-159272060-T-C FCER1A c.1-95T>C - IntronicSNV - 2/6
2-103042712-G-A IL18RAP c.579+1838G>A - IntronicSNV - 5/11
4-9966380-A-G SLC2A9 c.594+15836T>C - IntronicSNV - 6/12
12-69644051-G-A CPSF6 c.61-858G>A - IntronicSNV - 1/9
16-28837515-T-G ATXN2L c.466-46T>G - IntronicSNV - 4/21
16-28837515-T-C ATXN2L c.466-46T>C - IntronicSNV - 4/21
6-144355674-C-T PLAGL1 c.-616+29914G>A - intron_variant - 1/7
16-58622178-G-A CNOT1 c.211-396C>T - IntronicSNV - 3/48
6-32411523-T-A HLA-DRA c.611-10T>A - IntronicSNV - 3/4
1-173774952-C-T CENPL c.420+1453G>A - IntronicSNV - 4/5
3-39555580-A-G MOBP c.*667A>G - 3-UTRSNV 4/4 -
6-31838713-G-T SLC44A4 c.687C>A p.Tyr229* Nonsense 9/20 -
6-31838713-G-A SLC44A4 c.687C>T p.Tyr229Tyr Synonymous 9/20 -
19-55870351-T-G FAM71E2 c.1885A>C p.Lys629Gln Missense 9/11 -
19-55870351-T-C FAM71E2 c.1885A>G p.Lys629Glu Missense 9/11 -
1-152083325-A-T TCHH c.2368T>A p.Leu790Met Missense 3/3 -
6-32627714-T-G HLA-DQB1 c.*299A>C - 3-UTRSNV 5/5 -
6-31860337-T-A EHMT2 c.711A>T p.Ser237Ser Synonymous 7/28 -
12-57968715-C-G KIF5A c.1717-152C>G - IntronicSNV - 15/28
7-100235970-C-A TFR2 c.473+2339G>T - IntronicSNV - 3/17
3-133508464-A-T TF c.*11000A>T - IntergenicSNV 17/17 -
3-133508464-A-G TF c.*11000A>G - IntergenicSNV 17/17 -
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
6-25823444-A-T SLC17A1 c.207+3245T>A - IntronicSNV - 3/12
18-21749615-G-A OSBPL1A c.2418+676C>T - IntronicSNV - 24/27
7-50366637-G-A IKZF1 c.41-597G>A - IntronicSNV - 2/7
21-34625413-A-G IFNAR2 c.709+278A>G - IntronicSNV - 7/8
16-89734831-A-G SPATA33 c.209-863A>G - IntronicSNV - 2/2
6-29635928-T-C MOG c.592+227T>C - IntronicSNV - 5/7
11-656845-G-A DEAF1 c.1504-2794C>T - IntronicSNV - 10/11
11-656845-G-C DEAF1 c.1504-2794C>G - IntronicSNV - 10/11
12-56502926-C-T PA2G4 c.487-88C>T - IntronicSNV - 5/12
17-27085564-A-G FAM222B c.1413T>C p.Leu471Leu Synonymous 4/4 -
17-27161138-A-G FAM222B c.-41+173T>C - intron_variant - 2/3
13-28920923-T-C FLT1 c.2249-1235A>G - IntronicSNV - 15/29
11-308180-A-G IFITM2 c.1-13A>G - 5-UTRSNV 1/2 -
11-308180-A-T IFITM2 c.1-13A>T - 5-UTRSNV 1/2 -
8-11607990-G-A GATA4 c.909+245G>A - IntronicSNV - 4/6
3-100970240-T-C IMPG2 c.1239+2300A>G - IntronicSNV - 11/18
2-103011237-T-C IL18R1 c.1270+150T>C - IntronicSNV - 10/10
6-30993590-A-G MUC22 c.382A>G p.Ile128Val Missense 3/5 -
11-749776-C-T TALDO1 c.97+2198C>T - IntronicSNV - 1/7
5-16760970-G-A MYO10 c.1739+603C>T - IntronicSNV - 17/40
12-121424861-A-C HNF1A c.327-1775A>C - IntronicSNV - 1/9
8-11607990-G-T GATA4 c.909+245G>T - IntronicSNV - 4/6
16-81303759-T-C BCO1 c.844-5T>C - IntronicSNV - 6/10
3-52821011-A-G ITIH1 c.1784A>G p.Gln595Arg Missense 14/22 -
5-156932376-A-C ADAM19 c.1130+301T>G - IntronicSNV - 11/22
11-68192346-T-G LRP5 c.3237-224T>G - IntronicSNV - 14/22
11-2936952-G-A SLC22A18 c.537-900G>A - IntronicSNV - 5/10
11-2936952-G-T SLC22A18 c.537-900G>T - IntronicSNV - 5/10
12-88890671-A-G KITLG c.*325T>C - 3_prime_UTR_variant 9/9 -
16-57058582-A-G NLRC5 c.425-698A>G - IntronicSNV - 4/47
1-155260383-G-T PKLR c.1705C>A p.Arg569Arg Synonymous 11/11 -
16-31048079-C-T STX4 c.379-1168C>T - IntronicSNV - 5/10
17-34077428-A-C GAS2L2 c.386-91T>G - IntronicSNV - 1/5
1-155260383-G-A PKLR c.1705C>T p.Arg569Trp Missense 11/11 -
6-31864304-G-C EHMT2 c.329-11C>G - IntronicSNV - 3/27
6-31864304-G-A EHMT2 c.329-11C>T - IntronicSNV - 3/27
20-42825487-T-C OSER1 c.*205A>G - 3-UTRSNV 4/4 -
15-62332980-A-T VPS13C c.187+543T>A - IntronicSNV - 3/82
15-62332980-A-G VPS13C c.187+543T>C - IntronicSNV - 3/82