PMID: 29064820

Identification of polymorphisms in cancer patients that differentially affect survival with age.

Aging
A Doherty, Y Kernogitski, AM Kulminski, J Pedro de Magalhães
2017-10-20

749 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-57014875-A-G CETP c.1147-195A>G - IntronicSNV - 11/15
16-57014875-A-C CETP c.1147-195A>C - IntronicSNV - 11/15
4-23875559-G-C PPARGC1A c.234+10816C>G - IntronicSNV - 2/12
4-23875559-G-A PPARGC1A c.234+10816C>T - IntronicSNV - 2/12
3-119746633-G-A GSK3B c.89-25547C>T - IntronicSNV - 1/10
4-3137674-G-A HTT c.2683G>A - missense_variant 20/67 -
5-68616331-C-T CCDC125 c.37G>A p.Val13Met Missense 2/12 -
16-19033992-A-C TMC7 c.629-443A>C - IntronicSNV - 4/15
2-170203860-T-C LRP2 c.79+14971A>G - IntronicSNV - 1/78
2-203056987-A-G KIAA2012 c.2812-1037A>G - intron_variant - 19/23
3-189400596-C-T TP63 c.62+51230C>T - IntronicSNV - 1/13
13-32886574-C-G ZAR1L c.1-512G>C - IntergenicSNV - 2/5
4-23883796-A-G PPARGC1A c.234+2579T>C - IntronicSNV - 2/12
17-64541712-C-T PRKCA c.288+49311C>T - IntronicSNV - 3/16
17-7592780-G-A WRAP53 c.531-128G>A - IntronicSNV - 2/9
10-49682402-C-T ARHGAP22 c.451+5277G>A - IntronicSNV - 4/9
6-43742527-G-A VEGFA c.658+398G>A - IntronicSNV - 2/7
16-3747042-G-T TRAP1 c.89-6056C>A - IntronicSNV - 1/17
13-33628193-G-T KL c.1109G>T p.Cys370Phe Missense 2/5 -
8-10273426-A-G MSRA c.544-12232A>G - IntronicSNV - 5/5
5-141025929-A-G FCHSD1 c.1045-171T>C - IntronicSNV - 11/19
2-216190020-C-G ATIC c.347C>G p.Thr116Ser Missense 5/16 -
14-20916249-T-A OSGEP c.702+16A>T - IntronicSNV - 7/10
6-31525912-C-T NFKBIL1 c.670C>T p.Arg224Cys Missense 4/4 -
1-94342564-C-A DNTTIP2 c.927G>T p.Glu309Asp Missense 2/7 -
7-55187138-G-A EGFR c.89-22841G>A - IntronicSNV - 1/27
3-189552161-A-G TP63 c.579+25846A>G - IntronicSNV - 4/13
12-1036042-C-T RAD52 c.467+269G>A - IntronicSNV - 6/11
21-27435525-C-A APP c.356-9861G>T - IntronicSNV - 3/17
21-27435525-C-T APP c.356-9861G>A - IntronicSNV - 3/17
8-32624828-A-G NRG1 c.*2908A>G - IntergenicSNV 12/12 -
8-10170545-A-T MSRA c.437-6848A>T - IntronicSNV - 4/5
15-74282343-C-T STOML1 c.240+349G>A - IntronicSNV - 2/6
16-56948618-A-C SLC12A3 c.*1301A>C - 3-UTRSNV 26/26 -
3-53260325-A-G TKT c.1697-378T>C - IntronicSNV - 13/13
19-3966132-C-T DAPK3 c.63-1143G>A - IntronicSNV - 2/8
7-122809234-T-C SLC13A1 c.521A>G p.Asn174Ser Missense 4/15 -
11-204062-T-C BET1L c.*1408A>G - 3-UTRSNV 3/3 -
13-110419354-C-A IRS2 c.4013-10699G>T - IntronicSNV - 1/1
11-116728630-G-T SIK3 c.3407C>A - missense_variant 20/24 -
11-116728630-G-A SIK3 c.3407C>T - missense_variant 20/24 -
2-170010985-T-C LRP2 c.12280A>G p.Lys4094Glu Missense 66/79 -
1-3615156-C-T TP73 c.187-8957C>T - IntronicSNV - 3/13
19-50957397-G-A MYBPC2 c.1870G>A p.Val624Ile Missense 17/28 -
13-103513944-A-G ERCC5 c.760A>G p.Met254Val Missense 7/15 -
22-46591752-A-G PPARA c.1-2529A>G - IntronicSNV - 2/7
4-122683007-G-A TMEM155 c.32C>T p.Ala11Val Missense 4/6 -
7-45957055-G-C IGFBP3 c.422-17C>G - IntronicSNV - 1/4
6-152237618-G-T ESR1 c.761-27690G>T - IntronicSNV - 3/7
15-43661802-T-A ZSCAN29 c.310A>T p.Arg104* Nonsense 1/5 -
11-122986256-T-C CLMP c.29-17596A>G - IntronicSNV - 1/6
5-141025929-A-T FCHSD1 c.1045-171T>A - IntronicSNV - 11/19
2-216279273-A-G FN1 c.1941+287T>C - IntronicSNV - 13/43
3-123019763-T-A ADCY5 c.2725-621A>T - IntronicSNV - 14/20
5-68576014-C-G CCDC125 c.*2542G>C - IntergenicSNV 12/12 -
1-156100739-T-C LMNA c.513+175T>C - IntronicSNV - 2/11
7-2275993-G-A MRM2 c.299-794C>T - IntronicSNV - 2/2
3-178975408-T-C KCNMB3 c.63-6686A>G - IntronicSNV - 1/3
5-179267949-T-G MRNIP c.460A>C p.Arg154Arg Synonymous 6/7 -
5-179267949-T-C MRNIP c.460A>G p.Arg154Gly Missense 6/7 -
9-71606315-G-A PIP5K1B c.1620+142G>A - IntronicSNV - 15/15
10-50684228-A-G ERCC6 c.2382+33T>C - IntronicSNV - 12/20
19-4119012-A-G MAP2K2 c.93-1385T>C - IntronicSNV - 1/10
14-20925154-T-G APEX1 c.444T>G p.Asp148Glu Missense 5/5 -
19-13557907-C-A CACNA1A c.539+5783G>T - IntronicSNV - 3/47
14-20925154-T-A APEX1 c.444T>A p.Asp148Glu Missense 5/5 -
14-20925154-T-C APEX1 c.444T>C p.Asp148Asp Synonymous 5/5 -
9-118980049-A-T PAPPA c.1919-2167A>T - IntronicSNV - 4/21
21-35236467-A-G ITSN1 c.3891-988A>G - IntronicSNV - 31/39
8-141625045-G-A AGO2 c.22+20539C>T - IntronicSNV - 1/18
9-119022403-C-T PAPPA c.2733-5733C>T - IntronicSNV - 7/21
8-30962693-A-C WRN c.2088+4222A>C - IntronicSNV - 18/34
8-30962693-A-T WRN c.2088+4222A>T - IntronicSNV - 18/34
19-11465129-C-T CCDC159 c.773-127C>T - IntronicSNV - 9/10
15-40477831-G-A BUB1B c.1046G>A p.Arg349Gln Missense 8/23 -
1-40705726-A-T RLF c.5352A>T p.Glu1784Asp Missense 8/8 -
12-57883801-G-A MARS c.490+47G>A - IntronicSNV - 5/20
12-57883801-G-T MARS c.490+47G>T - IntronicSNV - 5/20
14-62196948-T-C HIF1A c.774-2188T>C - IntronicSNV - 6/14
17-44067400-T-C MAPT c.1339T>C p.Ser447Pro Missense 8/14 -
1-115837057-A-T NGF c.-136-686T>A - intron_variant - 1/2
1-115837057-A-C NGF c.-136-686T>G - intron_variant - 1/2
7-31015565-T-G GHRHR c.974+82T>G - IntronicSNV - 10/12
21-35271873-A-G ITSN1 c.*11269A>G - IntergenicSNV 40/40 -
5-142727193-G-A NR3C1 c.1185-33460C>T - IntronicSNV - 2/8
7-31008686-G-A GHRHR c.169G>A p.Ala57Thr Missense 3/13 -
7-73470714-G-C ELN c.1264G>C p.Gly422Arg Missense 20/33 -
19-13397560-C-T CACNA1A c.3322G>A p.Gly1108Ser Missense 20/48 -
1-115829313-G-A NGF c.104C>T p.Ala35Val Missense 3/3 -
2-74710491-C-T TTC31 c.83C>T p.Ala28Val Missense 2/13 -
8-31572565-A-G NRG1 c.37+75618A>G - IntronicSNV - 1/11
14-73724095-A-G PAPLN c.1547-1592A>G - IntronicSNV - 13/25
13-103524762-C-T ERCC5 c.2879+14C>T - IntronicSNV - 13/14
2-216959230-G-A TMEM169 c.1-1457G>A - IntronicSNV - 1/2
15-99286284-A-G IGF1R c.640+34948A>G - IntronicSNV - 2/20
4-110790911-A-G LRIT3 c.1006A>G p.Met336Val Missense 4/4 -
16-3723248-C-A TRAP1 c.1045-427G>T - IntronicSNV - 9/17
15-40991153-A-T RAD51 c.87+110A>T - IntronicSNV - 2/9
15-40991153-A-G RAD51 c.87+110A>G - IntronicSNV - 2/9
8-32543230-C-T NRG1 c.389-42237C>T - IntronicSNV - 4/11
22-37632770-T-G RAC2 c.108-3812A>C - IntronicSNV - 2/6
4-110790911-A-T LRIT3 c.1006A>T p.Met336Leu Missense 4/4 -
7-116146074-C-G CAV2 c.388C>G p.Gln130Glu Missense 3/3 -
5-1244425-C-T SLC6A18 c.1433C>T p.Pro478Leu Missense 10/12 -
4-3215835-T-C HTT c.6931T>C - missense_variant 50/67 -
10-104140350-G-A GBF1 c.5068G>A p.Gly1690Ser Missense 38/40 -
13-103383417-T-C CCDC168 c.19630A>G p.Lys6544Glu Missense 4/4 -
3-53272314-T-C TKT c.437+1953A>G - IntronicSNV - 4/13
16-3723248-C-T TRAP1 c.1045-427G>A - IntronicSNV - 9/17
17-62007498-A-G CD79B c.366T>C p.Cys122Cys Synonymous 3/6 -
20-39749241-C-G TOP1 c.1951-1095C>G - IntronicSNV - 18/20
3-189416987-C-T TP63 c.63-38542C>T - IntronicSNV - 1/13
17-1801065-G-C RPA1 c.*596G>C - 3-UTRSNV 17/17 -
8-31023822-A-G WRN c.3983-716A>G - IntronicSNV - 33/34
22-37581422-G-C C1QTNF6 c.125C>G p.Pro42Arg Missense 2/4 -
17-43922640-G-A SPPL2C c.368G>A p.Arg123Gln Missense 1/1 -
6-152160756-A-G ESR1 c.453-2976A>G - IntronicSNV - 1/7
6-52885773-T-C ICK c.359-1616A>G - IntronicSNV - 6/14
6-152288241-T-G ESR1 c.1096+22598T>G - IntronicSNV - 4/7
7-143043240-C-T CLCN1 c.2180C>T p.Pro727Leu Missense 18/23 -
7-94898811-G-C PPP1R9A c.3116G>C p.Arg1039Pro Missense 14/20 -
6-31778272-G-C HSPA1L c.1478C>G p.Thr493Arg Missense 2/2 -
8-79686236-C-G IL7 c.147+24071G>C - IntronicSNV - 2/5
8-79686236-C-T IL7 c.147+24071G>A - IntronicSNV - 2/5
22-29100889-C-A CHEK2 c.976-1335G>T - IntronicSNV - 8/15
17-64656491-A-T PRKCA c.529+14862A>T - IntronicSNV - 5/16
22-38658577-G-C TMEM184B c.-59+10313C>G - intron_variant - 1/8
6-31778077-T-G HSPA1L c.1673A>C p.Glu558Ala Missense 2/2 -
6-31729925-C-T MSH5 c.2356C>T p.Pro786Ser Missense 24/25 -
11-13379788-T-C ARNTL c.222-193T>C - IntronicSNV - 7/19
15-40949526-C-T KNL1 c.6595-27C>T - IntronicSNV - 23/25
19-13557907-C-G CACNA1A c.539+5783G>C - IntronicSNV - 3/47
5-142604421-A-G ARHGAP26 c.*2410A>G - 3-UTRSNV 23/23 -
15-99301535-G-T IGF1R c.640+50199G>T - IntronicSNV - 2/20
15-99301535-G-A IGF1R c.640+50199G>A - IntronicSNV - 2/20
4-23869454-C-T PPARGC1A c.234+16921G>A - IntronicSNV - 2/12
1-115837709-A-G NGF c.-136-1338T>C - intron_variant - 1/2
22-37632770-T-A RAC2 c.108-3812A>T - IntronicSNV - 2/6
5-141026812-A-C FCHSD1 c.829-15T>G - IntronicSNV - 9/19
6-8038149-A-G BLOC1S5 c.325+3223T>C - IntronicSNV - 3/4
20-56137895-G-C PCK1 c.550G>C p.Val184Leu Missense 4/10 -
20-56137895-G-T PCK1 c.550G>T p.Val184Leu Missense 4/10 -
3-25625821-G-A RARB c.786+3608G>A - IntronicSNV - 5/7
8-10173455-C-T MSRA c.437-3938C>T - IntronicSNV - 4/5
6-8038149-A-C BLOC1S5 c.325+3223T>G - IntronicSNV - 3/4
19-41903220-G-C EXOSC5 c.14C>G p.Thr5Arg Missense 1/6 -
15-99283918-G-A IGF1R c.640+32582G>A - IntronicSNV - 2/20
13-103384712-G-A CCDC168 c.18335C>T p.Thr6112Met Missense 4/4 -
16-57051154-G-A NLRC5 c.-13+54G>A - intron_variant - 1/47
19-41903220-G-A EXOSC5 c.14C>T p.Thr5Met Missense 1/6 -
17-61901197-T-A FTSJ3 c.1270A>T p.Ser424Cys Missense 13/21 -
6-53385475-C-G GCLC c.446+101G>C - IntronicSNV - 3/14
6-53385475-C-T GCLC c.446+101G>A - IntronicSNV - 3/14
19-7134402-T-G INSR c.2683-2074A>C - IntronicSNV - 13/21
21-35233517-G-C ITSN1 c.3890+2421G>C - IntronicSNV - 31/39
6-31839309-C-T SLC44A4 c.433G>A p.Val145Ile Missense 7/20 -
3-169514585-A-T LRRC34 c.760T>A p.Leu254Ile Missense 7/10 -
2-217543728-G-C IGFBP5 c.412C>G p.Arg138Gly Missense 2/4 -
12-124868410-G-A NCOR2 c.2019+1881C>T - IntronicSNV - 19/48
19-7078321-G-T ZNF557 c.247+1803G>T - IntronicSNV - 5/7
7-2316852-C-T SNX8 c.300+883G>A - IntronicSNV - 2/10
15-91355732-T-A BLM c.4076+1096T>A - IntronicSNV - 21/21
15-91355732-T-C BLM c.4076+1096T>C - IntronicSNV - 21/21
14-20900255-T-C KLHL33 c.1-1421A>G - IntronicSNV - 1/3
6-31501212-A-T DDX39B c.736-524T>A - IntronicSNV - 6/10
7-2316852-C-G SNX8 c.300+883G>C - IntronicSNV - 2/10
19-11510314-A-G RGL3 c.1764+217T>C - IntronicSNV - 16/18
17-64568980-T-C PRKCA c.289-68493T>C - IntronicSNV - 3/16
1-3561008-C-T WRAP73 c.339+2222G>A - IntronicSNV - 3/11
6-35967772-T-C SLC26A8 c.442A>G p.Ile148Val Missense 4/20 -
8-32180322-G-C NRG1 c.38-273024G>C - IntronicSNV - 1/11
19-13384131-T-G CACNA1A c.4001+2533A>C - IntronicSNV - 24/47
12-7290200-T-G CLSTN3 c.1211-351T>G - IntronicSNV - 7/17
19-49321007-A-C HSD17B14 c.370-2609T>G - IntronicSNV - 5/8
16-19033992-A-T TMC7 c.629-443A>T - IntronicSNV - 4/15
8-31005142-C-T WRN c.3572+150C>T - IntronicSNV - 30/34
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 -
8-31630514-T-A NRG1 c.37+133567T>A - IntronicSNV - 1/11
1-40700025-C-T RLF c.1090-1439C>T - IntronicSNV - 7/7
1-65890699-T-A LEPR c.-96-287T>A - intron_variant - 1/19
8-32259085-T-A NRG1 c.38-194261T>A - IntronicSNV - 1/11
22-46557161-G-A PPARA c.-43+9288G>A - intron_variant - 2/7
17-64605504-G-A PRKCA c.289-31969G>A - IntronicSNV - 3/16
17-1761446-G-A RPA1 c.361+4963G>A - IntronicSNV - 5/16
10-90752128-A-T FAS c.30+1465A>T - IntronicSNV - 1/8
11-108043988-C-T NPAT c.1723G>A p.Val575Ile Missense 13/18 -
17-64537059-A-G PRKCA c.288+44658A>G - IntronicSNV - 3/16
3-169518455-T-G LRRC34 c.657+3386A>C - IntronicSNV - 6/9
10-49682402-C-G ARHGAP22 c.451+5277G>C - IntronicSNV - 4/9
22-22288560-G-A PPM1F c.394C>T p.Arg132Cys Missense 4/8 -
8-10113743-C-G MSRA c.331+11010C>G - IntronicSNV - 3/5
8-10113743-C-T MSRA c.331+11010C>T - IntronicSNV - 3/5
19-1058176-A-G ABCA7 c.5057A>G p.Gln1686Arg Missense 37/47 -
6-31750509-G-A VARS c.1876C>T p.Pro626Ser Missense 15/30 -
22-41564287-T-C EP300 c.3875-166T>C - IntronicSNV - 23/30
7-55142654-A-G EGFR c.88+55596A>G - IntronicSNV - 1/27
4-110883121-G-A EGF c.1292G>A p.Arg431Lys Missense 8/23 -
17-42475962-A-C GPATCH8 c.3483T>G p.Cys1161Trp Missense 8/8 -
8-32397901-A-G NRG1 c.38-55445A>G - IntronicSNV - 1/11
13-28909870-A-T FLT1 c.2489-1604T>A - IntronicSNV - 17/29
3-138347957-G-A FAIM c.349G>A p.Ala117Thr Missense 4/5 -
8-30938704-G-A WRN c.1161G>A p.Met387Ile Missense 9/35 -
22-46562183-T-C PPARA c.-43+14310T>C - intron_variant - 2/7
11-233067-C-A SIRT3 c.196G>T p.Val66Phe Missense 3/7 -
12-4479549-G-A FGF23 c.716C>T p.Thr239Met Missense 3/3 -
11-61615803-C-T FADS2 c.744+47C>T - IntronicSNV - 5/11
16-56999328-C-T CETP c.233+2292C>T - IntronicSNV - 2/15
17-62007498-A-T CD79B c.366T>A p.Cys122* Nonsense 3/6 -
21-27408020-G-A APP c.663-13662C>T - IntronicSNV - 5/17
19-7251842-T-G INSR c.652+15514A>C - IntronicSNV - 2/21
8-10201532-G-A MSRA c.543+24033G>A - IntronicSNV - 5/5
11-13345115-C-A ARNTL c.-189-2845C>A - intron_variant - 2/19
19-49445817-T-C DHDH c.740T>C p.Val247Ala Missense 5/7 -
17-47587819-C-T NGFR c.614C>T p.Ser205Leu Missense 4/6 -
11-116652301-C-T ZPR1 c.1179+573G>A - IntronicSNV - 12/13
2-217039064-G-A XRCC5 c.1834+12293G>A - IntronicSNV - 16/20
2-217039064-G-T XRCC5 c.1834+12293G>T - IntronicSNV - 16/20
20-49152284-A-G PTPN1 c.-66+25157A>G - intron_variant - 1/8
17-44067382-T-C MAPT c.1321T>C p.Tyr441His Missense 8/14 -
5-68576014-C-A CCDC125 c.*2542G>T - IntergenicSNV 12/12 -
3-25703640-C-T TOP2B c.69+2080G>A - IntronicSNV - 1/35
6-152262113-A-G ESR1 c.761-3195A>G - IntronicSNV - 3/7
9-119148669-A-C PAPPA c.4776+3897A>C - IntronicSNV - 21/21
4-23814707-G-A PPARGC1A c.1835C>T p.Thr612Met Missense 9/13 -
3-25608576-C-A RARB c.449-2673C>A - IntronicSNV - 3/7
6-150114745-G-A PCMT1 c.532G>A p.Val178Ile Missense 5/8 -
18-60971644-A-T BCL2 c.585+13671T>A - IntronicSNV - 2/2
4-23814707-G-T PPARGC1A c.1835C>A p.Thr612Lys Missense 9/13 -
3-25608576-C-T RARB c.449-2673C>T - IntronicSNV - 3/7
6-31838441-T-C SLC44A4 c.850A>G p.Met284Val Missense 10/20 -
17-64701623-G-A PRKCA c.918+16458G>A - IntronicSNV - 8/16
17-7536527-G-A SHBG c.1066G>A p.Asp356Asn Missense 8/8 -
18-60971644-A-G BCL2 c.585+13671T>C - IntronicSNV - 2/2
21-48063735-G-C PRMT2 c.144+184G>C - IntronicSNV - 3/10
11-61603237-C-T FADS2 c.208-2013C>T - IntronicSNV - 1/11
13-110427988-G-A IRS2 c.4012+6401C>T - IntronicSNV - 1/1
11-61615803-C-G FADS2 c.744+47C>G - IntronicSNV - 5/11
16-57052730-C-G NLRC5 c.-13+1630C>G - intron_variant - 1/47
8-30900890-A-G WRN c.-77+9401A>G - intron_variant - 1/34
13-32831643-T-A FRY c.7416+3112T>A - IntronicSNV - 51/60
5-149490808-C-T CSF1R c.-181+2016G>A - intron_variant - 1/21
11-34467646-A-T CAT c.67-3093A>T - IntronicSNV - 1/12
11-34467646-A-G CAT c.67-3093A>G - IntronicSNV - 1/12
22-24199704-C-G SLC2A11 c.28C>G p.Arg10Gly Missense 2/13 -
22-24199704-C-T SLC2A11 c.28C>T p.Arg10Trp Missense 2/13 -
10-43598195-A-G RET c.625+118A>G - IntronicSNV - 3/19
2-135161631-T-C MGAT5 c.1530+923T>C - IntronicSNV - 11/15
11-108175462-G-A ATM c.5557G>A p.Asp1853Asn Missense 37/63 -
17-41223094-T-C BRCA1 c.4837A>G p.Ser1613Gly Missense 15/23 -
3-25602890-T-C RARB c.449-8359T>C - IntronicSNV - 3/7
12-124809027-G-A NCOR2 c.*921C>T - 3-UTRSNV 49/49 -
8-9988909-G-A MSRA c.143-76434G>A - IntronicSNV - 1/5
13-33609282-A-G KL c.819+17885A>G - IntronicSNV - 1/4
6-114261596-T-A HDAC2 c.*626A>T - 3-UTRSNV 14/14 -
11-116728630-G-C SIK3 c.3407C>G - missense_variant 20/24 -
15-99505062-C-A IGF1R c.*4391C>A - 3-UTRSNV 21/21 -
2-203098559-C-T SUMO1 c.12+4604G>A - IntronicSNV - 1/4
13-103523312-C-T ERCC5 c.2679-1236C>T - IntronicSNV - 12/14
10-50667105-T-C ERCC6 c.4238A>G p.Gln1413Arg Missense 21/21 -
8-30921935-G-A WRN c.340G>A p.Val114Ile Missense 4/35 -
17-41246481-T-C BRCA1 c.1067A>G p.Gln356Arg Missense 10/23 -
20-56182183-G-T ZBP1 c.1094-2358C>A - IntronicSNV - 7/7
6-31778272-G-A HSPA1L c.1478C>T p.Thr493Met Missense 2/2 -
20-56182183-G-C ZBP1 c.1094-2358C>G - IntronicSNV - 7/7
17-41245471-C-T BRCA1 c.2077G>A p.Asp693Asn Missense 10/23 -
8-79688026-G-T IL7 c.147+22281C>A - IntronicSNV - 2/5
17-41245471-C-A BRCA1 c.2077G>T p.Asp693Tyr Missense 10/23 -
9-119148669-A-G PAPPA c.4776+3897A>G - IntronicSNV - 21/21
5-149442474-G-A CSF1R c.1627-1062C>T - IntronicSNV - 11/21
8-32613983-T-C NRG1 c.767T>C p.Met256Thr Missense 9/12 -
6-152470752-C-A SYNE1 c.24502G>T p.Ala8168Ser Missense 136/146 -
17-73326965-T-C GRB2 c.176+1816A>G - IntronicSNV - 3/5
8-10241411-C-A MSRA c.544-44247C>A - IntronicSNV - 5/5
20-39792063-A-G PLCG1 c.835A>G p.Ser279Gly Missense 9/32 -
5-35861068-T-C IL7R c.197T>C p.Ile66Thr Missense 2/8 -
1-45932738-T-A TESK2 c.1-9281A>T - IntronicSNV - 1/10
8-10241411-C-G MSRA c.544-44247C>G - IntronicSNV - 5/5
3-189534583-A-G TP63 c.579+8268A>G - IntronicSNV - 4/13
18-60844089-A-G BCL2 c.586-48097T>C - IntronicSNV - 2/2
7-122780027-C-T SLC13A1 c.813-5444G>A - IntronicSNV - 7/14
7-94898811-G-A PPP1R9A c.3116G>A p.Arg1039Gln Missense 14/20 -
2-217031678-C-T XRCC5 c.1834+4907C>T - IntronicSNV - 16/20
6-152449900-G-A SYNE1 c.26153+1955C>T - IntronicSNV - 145/145
8-9986017-T-A MSRA c.142+73849T>A - IntronicSNV - 1/5
16-57017319-G-A CETP c.1403G>A p.Arg468Gln Missense 15/16 -
17-41223094-T-A BRCA1 c.4837A>T p.Ser1613Cys Missense 15/23 -
15-99505062-C-T IGF1R c.*4391C>T - 3-UTRSNV 21/21 -
10-90677813-T-A STAMBPL1 c.1041+1239T>A - IntronicSNV - 8/10
5-149513072-A-G PDGFRB c.934+77T>C - IntronicSNV - 6/22
6-136969853-C-T MAP3K5 c.1788+2269G>A - IntronicSNV - 11/29
17-7529902-G-A SAT2 c.376C>T p.Arg126Cys Missense 6/6 -
12-971291-C-G WNK1 c.1994C>G p.Thr665Arg Missense 8/28 -
20-35826683-T-G RPN2 c.208-117T>G - IntronicSNV - 2/16
20-35826683-T-A RPN2 c.208-117T>A - IntronicSNV - 2/16
9-100388197-C-T TSTD2 c.248G>A p.Arg83Gln Missense 3/10 -
6-152456098-G-A SYNE1 c.25788+141C>T - IntronicSNV - 142/145
8-31004582-T-G WRN c.3397T>G p.Ser1133Ala Missense 29/35 -
7-55128339-T-G EGFR c.88+41281T>G - IntronicSNV - 1/27
21-35228502-G-A ITSN1 c.3662-538G>A - IntronicSNV - 29/39
8-31849368-T-A NRG1 c.37+352421T>A - IntronicSNV - 1/11
7-106779480-C-T PRKAR2B c.481-1812C>T - IntronicSNV - 4/10
13-110430768-G-A IRS2 c.4012+3621C>T - IntronicSNV - 1/1
13-110430768-G-C IRS2 c.4012+3621C>G - IntronicSNV - 1/1
6-152291366-G-C ESR1 c.1096+25723G>C - IntronicSNV - 4/7
2-170175334-T-C LRP2 c.248A>G p.Asn83Ser Missense 3/79 -
13-110430768-G-T IRS2 c.4012+3621C>A - IntronicSNV - 1/1
2-74761539-T-A LOXL3 c.1843A>T p.Ile615Phe Missense 11/14 -
9-32490675-G-C DDX58 c.691+624C>G - IntronicSNV - 5/17
9-136269143-G-A STKLD1 c.1703G>A p.Arg568Gln Missense 16/18 -
9-136269143-G-C STKLD1 c.1703G>C p.Arg568Pro Missense 16/18 -
11-116745484-C-G SIK3 c.1427+390G>C - intron_variant - 11/23
7-73470714-G-A ELN c.1264G>A p.Gly422Ser Missense 20/33 -
7-94946084-A-C PON1 c.163T>G p.Leu55Val Missense 3/9 -
7-116175711-T-C CAV1 c.195+8968T>C - IntronicSNV - 2/2
17-64733562-G-T PRKCA c.1231-1320G>T - IntronicSNV - 10/16
9-32490675-G-T DDX58 c.691+624C>A - IntronicSNV - 5/17
15-43762196-C-T TP53BP1 c.1249G>A p.Gly417Ser Missense 11/28 -
11-62458275-T-C BSCL2 c.945A>G p.Glu315Glu Synonymous 9/11 -
1-115837709-A-T NGF c.-136-1338T>A - intron_variant - 1/2
5-35876274-A-G IL7R c.1066A>G p.Ile356Val Missense 8/8 -
3-189400282-T-A TP63 c.62+50916T>A - IntronicSNV - 1/13
1-40735472-A-G ZMPSTE24 c.475-175A>G - IntronicSNV - 4/9
2-170053505-C-G LRP2 c.8614G>C p.Ala2872Pro Missense 46/79 -
19-45366779-T-C NECTIN2 c.89-1749T>C - IntronicSNV - 1/5
17-37826443-T-A PNMT c.650T>A p.Leu217Gln Missense 3/3 -
5-141011346-A-C HDAC3 c.282-1654T>G - IntronicSNV - 3/14
13-32906729-A-C BRCA2 c.1114A>C p.Asn372His Missense 10/27 -
6-31506648-G-T DDX39B c.340-16C>A - IntronicSNV - 3/10
17-15994554-G-A NCOR1 c.3016+623C>T - IntronicSNV - 22/45
2-216995591-T-C XRCC5 c.938-7T>C - IntronicSNV - 8/20
5-149481322-A-C CSF1R c.-181+11502T>G - intron_variant - 1/21
19-46029172-C-G VASP c.1048-32C>G - IntronicSNV - 11/12
16-57051154-G-T NLRC5 c.-13+54G>T - intron_variant - 1/47
14-20876189-G-A TEP1 c.410C>T p.Thr137Met Missense 2/55 -
8-73982161-A-G SBSPON c.556T>C p.Trp186Arg Missense 4/5 -
1-3615156-C-G TP73 c.187-8957C>G - IntronicSNV - 3/13
8-10241411-C-T MSRA c.544-44247C>T - IntronicSNV - 5/5
11-248818-G-A PSMD13 c.611G>A p.Gly204Glu Missense 8/13 -
8-38299419-G-A FGFR1 c.92-11953C>T - IntronicSNV - 2/17
11-248818-G-C PSMD13 c.611G>C p.Gly204Ala Missense 8/13 -
7-127946901-C-T RBM28 c.*3949G>A - IntergenicSNV 19/19 -
15-89836228-G-T FANCI c.2225G>T p.Cys742Phe Missense 22/37 -
15-89836228-G-C FANCI c.2225G>C p.Cys742Ser Missense 22/37 -
15-89836228-G-A FANCI c.2225G>A p.Cys742Tyr Missense 22/37 -
13-32906480-A-C BRCA2 c.865A>C p.Asn289His Missense 10/27 -
10-50743088-G-A ERCC6 c.1-2078C>T - IntronicSNV - 1/20
14-73705476-G-A PAPLN c.1-1011G>A - IntronicSNV - 1/25
17-64605504-G-T PRKCA c.289-31969G>T - IntronicSNV - 3/16
3-189540356-T-G TP63 c.579+14041T>G - IntronicSNV - 4/13
3-123094451-T-C ADCY5 c.1135-23023A>G - IntronicSNV - 1/20
8-27257787-T-A PTK2B c.204+2482T>A - IntronicSNV - 3/31
13-32906480-A-G BRCA2 c.865A>G p.Asn289Asp Missense 10/27 -
13-33628138-T-A KL c.1054T>A p.Phe352Ile Missense 2/5 -
4-110902111-A-T EGF c.2351A>T p.Asp784Val Missense 15/23 -
13-33628138-T-G KL c.1054T>G p.Phe352Val Missense 2/5 -
13-110413817-G-A IRS2 c.4013-5162C>T - IntronicSNV - 1/1
7-106776567-A-G PRKAR2B c.481-4725A>G - IntronicSNV - 4/10
2-208478055-A-G METTL21A c.372T>C p.Thr124Thr Synonymous 4/4 -
2-217543728-G-T IGFBP5 c.412C>A p.Arg138Arg Synonymous 2/4 -
7-116182054-C-T CAV1 c.195+15311C>T - IntronicSNV - 2/2
17-62030231-T-A SCN4A c.2377-971A>T - IntronicSNV - 13/23
14-20900255-T-G KLHL33 c.1-1421A>C - IntronicSNV - 1/3
2-217543728-G-A IGFBP5 c.412C>T p.Arg138Trp Missense 2/4 -
8-27334969-A-G CHRNA2 c.-137+1372T>C - intron_variant - 1/6
20-56138648-G-A PCK1 c.826G>A p.Glu276Lys Missense 6/10 -
15-99308094-C-G IGF1R c.640+56758C>G - IntronicSNV - 2/20
20-56139365-G-A PCK1 c.1102G>A p.Val368Ile Missense 7/10 -
2-135258645-A-G TMEM163 c.555+1827T>C - IntronicSNV - 5/7
19-7244884-T-C INSR c.652+22472A>G - IntronicSNV - 2/21
6-88856331-C-T CNR1 c.-64+1052G>A - intron_variant - 2/2
16-57052730-C-A NLRC5 c.-13+1630C>A - intron_variant - 1/47
14-62207557-C-T HIF1A c.1744C>T p.Pro582Ser Missense 12/15 -
6-88856331-C-G CNR1 c.-64+1052G>C - intron_variant - 2/2
6-152262113-A-T ESR1 c.761-3195A>T - IntronicSNV - 3/7
14-65524000-G-A CHURC1-FNTB c.1044+2593G>A - IntronicSNV - 12/12
17-64565054-C-G PRKCA c.289-72419C>G - IntronicSNV - 3/16
8-10030902-G-T MSRA c.143-34441G>T - IntronicSNV - 1/5
4-23815662-C-T PPARGC1A c.1444G>A p.Gly482Ser Missense 8/13 -
6-31778272-G-T HSPA1L c.1478C>A p.Thr493Lys Missense 2/2 -
8-32247244-G-A NRG1 c.38-206102G>A - IntronicSNV - 1/11
12-124809027-G-C NCOR2 c.*921C>G - 3-UTRSNV 49/49 -
11-116691675-T-C APOA4 c.1099A>G p.Thr367Ala Missense 3/3 -
11-116691675-T-A APOA4 c.1099A>T p.Thr367Ser Missense 3/3 -
13-103388015-C-G CCDC168 c.15032G>C p.Gly5011Ala Missense 4/4 -
19-7074561-C-T ZNF557 c.1-525C>T - IntronicSNV - 2/7
13-103528002-G-C ERCC5 c.3310G>C p.Asp1104His Missense 15/15 -
17-64712832-A-G PRKCA c.919-15974A>G - IntronicSNV - 8/16
14-20916249-T-C OSGEP c.702+16A>G - IntronicSNV - 7/10
6-152304328-C-T ESR1 c.1097-28463C>T - IntronicSNV - 4/7
8-32085171-C-T NRG1 c.38-368175C>T - IntronicSNV - 1/11
3-142281612-A-G ATR c.632T>C p.Met211Thr Missense 4/47 -
8-31024654-T-C WRN c.4099T>C p.Cys1367Arg Missense 34/35 -
17-62020348-T-C SCN4A c.4126A>G p.Asn1376Asp Missense 23/24 -
16-56601720-A-G MT4 c.89A>G p.Tyr30Cys Missense 2/3 -
19-49254504-G-A FUT1 c.35C>T p.Ala12Val Missense 4/4 -
17-64691666-T-C PRKCA c.918+6501T>C - IntronicSNV - 8/16
1-115829178-C-T NGF c.239G>A p.Arg80Gln Missense 3/3 -
15-99308094-C-T IGF1R c.640+56758C>T - IntronicSNV - 2/20
8-10029452-T-G MSRA c.143-35891T>G - IntronicSNV - 1/5
2-170053505-C-A LRP2 c.8614G>T p.Ala2872Ser Missense 46/79 -
5-42719239-A-C GHR c.1630A>C p.Ile544Leu Missense 10/10 -
17-61901197-T-G FTSJ3 c.1270A>C p.Ser424Arg Missense 13/21 -
19-7134402-T-C INSR c.2683-2074A>G - IntronicSNV - 13/21
1-3682070-C-T CCDC27 c.1453-1029C>T - IntronicSNV - 8/11
13-32953182-A-G BRCA2 c.8755-272A>G - IntronicSNV - 21/26
8-27257787-T-G PTK2B c.204+2482T>G - IntronicSNV - 3/31
21-35233517-G-T ITSN1 c.3890+2421G>T - IntronicSNV - 31/39
2-170053505-C-T LRP2 c.8614G>A p.Ala2872Thr Missense 46/79 -
4-23864412-T-C PPARGC1A c.234+21963A>G - IntronicSNV - 2/12
14-73665354-G-T PSEN1 c.868+517G>T - IntronicSNV - 8/11
14-73665354-G-A PSEN1 c.868+517G>A - IntronicSNV - 8/11
9-118942439-C-T PAPPA c.416-6994C>T - IntronicSNV - 1/21
20-56098733-T-C CTCFL c.529A>G p.Thr177Ala Missense 3/12 -
12-7288432-A-C CLSTN3 c.625A>C p.Ser209Arg Missense 5/18 -
8-31523972-A-G NRG1 c.37+27025A>G - IntronicSNV - 1/11
6-31603770-A-G PRRC2A c.5568A>G p.Gln1856Gln Synonymous 25/31 -
19-7227871-T-G INSR c.652+39485A>C - IntronicSNV - 2/21
13-103523312-C-G ERCC5 c.2679-1236C>G - IntronicSNV - 12/14
8-79697483-A-T IL7 c.147+12824T>A - IntronicSNV - 2/5
8-10072245-A-G MSRA c.211+6834A>G - IntronicSNV - 2/5
9-118942439-C-A PAPPA c.416-6994C>A - IntronicSNV - 1/21
12-93968197-T-C SOCS2 c.140-301T>C - IntronicSNV - 2/2
12-7288432-A-G CLSTN3 c.625A>G p.Ser209Gly Missense 5/18 -
1-115856078-C-T NGF c.-136-19707G>A - intron_variant - 1/2
6-152149435-T-C ESR1 c.453-14297T>C - IntronicSNV - 1/7
21-27272159-T-C APP c.1964-2174A>G - IntronicSNV - 15/17
6-152478820-G-T SYNE1 c.23791-1588C>A - IntronicSNV - 131/145
19-4024020-G-A PIAS4 c.455-14G>A - IntronicSNV - 2/10
19-4024020-G-C PIAS4 c.455-14G>C - IntronicSNV - 2/10
2-47694037-T-C MSH2 c.1661+90T>C - IntronicSNV - 10/15
15-43661802-T-C ZSCAN29 c.310A>G p.Arg104Gly Missense 1/5 -
2-216956929-C-T TMEM169 c.1-3758C>T - IntronicSNV - 1/2
3-178927410-A-G PIK3CA c.1173A>G p.Ile391Met Missense 7/21 -
8-48852225-C-T PRKDC c.999G>A p.Met333Ile Missense 11/86 -
3-189548862-G-A TP63 c.579+22547G>A - IntronicSNV - 4/13
1-65867519-G-A DNAJC6 c.2183G>A p.Ser728Asn Missense 15/19 -
21-27399399-C-G APP c.663-5041G>C - IntronicSNV - 5/17
20-56190634-C-G ZBP1 c.262G>C p.Glu88Gln Missense 3/8 -
17-44061278-C-T MAPT c.1108C>T p.Arg370Trp Missense 6/14 -
22-46656246-T-G PKDREJ c.2974A>C p.Thr992Pro Missense 1/1 -
11-73669334-A-C DNAJB13 c.69-28A>C - IntronicSNV - 1/7
9-119032615-G-A PAPPA c.2862-989G>A - IntronicSNV - 8/21
19-50967640-G-C MYBPC2 c.3266G>C p.Arg1089Pro Missense 27/28 -
19-50967640-G-A MYBPC2 c.3266G>A p.Arg1089His Missense 27/28 -
13-32981279-T-A N4BP2L1 c.396+108A>T - IntronicSNV - 3/4
14-20876253-A-G TEP1 c.346T>C p.Ser116Pro Missense 2/55 -
6-108962642-C-T FOXO3 c.622-22016C>T - IntronicSNV - 1/2
10-90673024-G-A STAMBPL1 c.587G>A p.Ser196Asn Missense 6/11 -
22-41549297-A-C EP300 c.3142+943A>C - IntronicSNV - 16/30
10-90673024-G-T STAMBPL1 c.587G>T p.Ser196Ile Missense 6/11 -
11-73768553-C-T C2CD3 c.4988G>A p.Ser1663Asn Missense 25/31 -
11-67404726-A-C TBX10 c.8-1992T>G - IntronicSNV - 1/7
10-50678317-C-G ERCC6 c.3689G>C p.Arg1230Pro Missense 18/21 -
3-189570356-T-G TP63 c.580-11665T>G - IntronicSNV - 4/13
1-154965113-G-C FLAD1 c.1555-76G>C - IntronicSNV - 5/6
1-154965113-G-A FLAD1 c.1555-76G>A - IntronicSNV - 5/6
1-154965113-G-T FLAD1 c.1555-76G>T - IntronicSNV - 5/6
10-50678317-C-T ERCC6 c.3689G>A p.Arg1230His Missense 18/21 -
22-29046240-A-T TTC28 c.103-20422T>A - IntronicSNV - 1/22
17-64724614-G-C PRKCA c.919-4192G>C - IntronicSNV - 8/16
12-9232268-T-C A2M c.2998A>G p.Ile1000Val Missense 24/36 -
4-83289373-C-T HNRNPD c.290+3308G>A - IntronicSNV - 2/8
21-35229893-C-A ITSN1 c.3783+732C>A - IntronicSNV - 30/39
6-35980121-C-T SLC26A8 c.217G>A p.Val73Met Missense 3/20 -
7-881668-C-T SUN1 c.202C>T p.His68Tyr Missense 3/18 -
8-141822261-A-T PTK2 c.933+6115T>A - IntronicSNV - 10/31
1-22971892-A-G C1QC c.181+1195A>G - IntronicSNV - 2/2
2-47601106-T-C EPCAM c.344T>C p.Met115Thr Missense 3/9 -
10-89647154-G-A PTEN c.80-6628G>A - IntronicSNV - 1/8
3-119733710-T-C GSK3B c.89-12624A>G - IntronicSNV - 1/10
4-110914427-A-G EGF c.2735-1462A>G - IntronicSNV - 18/22
8-90930168-C-T OSGIN2 c.397-3140C>T - IntronicSNV - 4/5
16-1376892-C-A UBE2I c.*2098C>A - 3-UTRSNV 7/7 -
4-110914427-A-T EGF c.2735-1462A>T - IntronicSNV - 18/22
15-40562640-G-A BUB1B-PAK6 c.859-1785G>A - IntronicSNV - 5/10
8-10136381-A-G MSRA c.332-22663A>G - IntronicSNV - 3/5
1-161234965-G-C PCP4L1 c.9+6192G>C - IntronicSNV - 1/2
1-161234965-G-A PCP4L1 c.9+6192G>A - IntronicSNV - 1/2
6-108953975-A-G FOXO3 c.622-30683A>G - IntronicSNV - 1/2
8-10136381-A-T MSRA c.332-22663A>T - IntronicSNV - 3/5
11-122982316-C-G CLMP c.29-13656G>C - IntronicSNV - 1/6
8-10170545-A-G MSRA c.437-6848A>G - IntronicSNV - 4/5
19-1642507-T-C TCF3 c.145+3847A>G - IntronicSNV - 3/18
4-110901198-G-A EGF c.2124G>A p.Met708Ile Missense 14/23 -
17-64800552-A-G PRKCA c.*397A>G - 3-UTRSNV 17/17 -
1-66075952-G-C LEPR c.1968G>C p.Lys656Asn Missense 14/20 -
1-66075952-G-T LEPR c.1968G>T p.Lys656Asn Missense 14/20 -
5-35906981-C-T CAPSL c.526-2233G>A - IntronicSNV - 4/4
8-9988909-G-C MSRA c.143-76434G>C - IntronicSNV - 1/5
14-20897064-C-T KLHL33 c.1546G>A p.Ala516Thr Missense 4/4 -
15-43767774-G-T TP53BP1 c.1074C>A p.Asp358Glu Missense 9/28 -
6-132212108-T-A ENPP1 c.*457T>A - 3-UTRSNV 25/25 -
1-161278677-A-C MPZ c.67+952T>G - IntronicSNV - 1/5
1-161278677-A-T MPZ c.67+952T>A - IntronicSNV - 1/5
15-43767774-G-C TP53BP1 c.1074C>G p.Asp358Glu Missense 9/28 -
19-49447713-G-A DHDH c.844G>A p.Gly282Arg Missense 6/7 -
18-60812513-G-A BCL2 c.586-16521C>T - IntronicSNV - 2/2
6-150039148-G-A LATS1 c.-304C>T - 5_prime_UTR_variant 1/8 -
18-60812513-G-T BCL2 c.586-16521C>A - IntronicSNV - 2/2
7-55154688-A-C EGFR c.89-55291A>C - IntronicSNV - 1/27
9-32526146-G-A DDX58 c.19C>T p.Arg7Cys Missense 1/18 -
7-55154688-A-T EGFR c.89-55291A>T - IntronicSNV - 1/27
13-103388880-T-C CCDC168 c.14167A>G p.Met4723Val Missense 4/4 -
10-90699679-G-A ACTA2 c.617-224C>T - IntronicSNV - 6/8
8-38295542-G-A FGFR1 c.92-8076C>T - IntronicSNV - 2/17
13-28962942-C-T FLT1 c.1969+991G>A - IntronicSNV - 13/29
14-73735366-C-T PAPLN c.3521C>T p.Thr1174Met Missense 25/26 -
17-64659547-C-T PRKCA c.529+17918C>T - IntronicSNV - 5/16
3-119609160-T-C GSK3B c.814-13805A>G - IntronicSNV - 7/10
5-126158200-A-T LMNB1 c.1387-273A>T - IntronicSNV - 7/10
5-126158200-A-G LMNB1 c.1387-273A>G - IntronicSNV - 7/10
4-103802242-T-C CISD2 c.104-4131T>C - IntronicSNV - 1/2
1-3677933-T-C CCDC27 c.800T>C p.Met267Thr Missense 5/12 -
8-10128539-A-G MSRA c.331+25806A>G - IntronicSNV - 3/5
3-189563530-A-T TP63 c.580-18491A>T - IntronicSNV - 4/13
20-56182296-A-C ZBP1 c.1094-2471T>G - IntronicSNV - 7/7
3-189563530-A-G TP63 c.580-18491A>G - IntronicSNV - 4/13
2-128079806-A-G MAP3K2 c.861T>C p.Ala287Ala Synonymous 11/16 -
10-22675857-A-G SPAG6 c.572A>G p.Gln191Arg Missense 8/14 -
8-30492116-C-G GTF2E2 c.258+433G>C - IntronicSNV - 3/7
6-114269542-C-G HDAC2 c.841+601G>C - IntronicSNV - 8/13
6-35960390-C-T SLC26A8 c.689G>A p.Ser230Asn Missense 6/20 -
5-60216584-C-T ERCC8 c.275+1297G>A - IntronicSNV - 3/11
19-11447886-C-T RAB3D c.190G>A p.Val64Ile Missense 2/5 -
5-149481322-A-T CSF1R c.-181+11502T>A - intron_variant - 1/21
8-9983369-C-T MSRA c.142+71201C>T - IntronicSNV - 1/5
8-9983369-C-A MSRA c.142+71201C>A - IntronicSNV - 1/5
10-90674968-T-G STAMBPL1 c.903+553T>G - IntronicSNV - 7/10
10-90674968-T-A STAMBPL1 c.903+553T>A - IntronicSNV - 7/10
7-116148370-T-C CAV2 c.*2195T>C - 3-UTRSNV 3/3 -
19-3966132-C-G DAPK3 c.63-1143G>C - IntronicSNV - 2/8
13-28938934-T-G FLT1 c.2117-7112A>C - IntronicSNV - 14/29
7-116148370-T-G CAV2 c.*2195T>G - 3-UTRSNV 3/3 -
2-170158988-G-C LRP2 c.427+4803C>G - IntronicSNV - 4/78
15-99230263-G-A IGF1R c.95-20528G>A - IntronicSNV - 1/20
15-99230263-G-T IGF1R c.95-20528G>T - IntronicSNV - 1/20
8-10249268-T-A MSRA c.544-36390T>A - IntronicSNV - 5/5
8-27520801-G-A SCARA3 c.1369+3745G>A - IntronicSNV - 5/5
17-61903445-G-C FTSJ3 c.271C>G p.Gln91Glu Missense 5/21 -
15-91326099-C-T BLM c.2603C>T p.Pro868Leu Missense 13/22 -
1-154919080-C-T PBXIP1 c.1070G>A p.Gly357Asp Missense 10/11 -
4-174242277-T-C GALNT7 c.1837-454T>C - IntronicSNV - 11/11
13-103384824-G-A CCDC168 c.18223C>T p.Arg6075Cys Missense 4/4 -
8-32559943-G-A NRG1 c.389-25524G>A - IntronicSNV - 4/11
4-23880985-T-C PPARGC1A c.234+5390A>G - IntronicSNV - 2/12
2-170010985-T-A LRP2 c.12280A>T p.Lys4094* Nonsense 66/79 -
15-99404021-C-A IGF1R c.641-30533C>A - IntronicSNV - 2/20
10-89657150-C-T PTEN c.164+3284C>T - IntronicSNV - 2/8
2-170003432-T-G LRP2 c.12628A>C p.Ile4210Leu Missense 69/79 -
10-89657150-C-A PTEN c.164+3284C>A - IntronicSNV - 2/8
8-32453358-G-A NRG1 c.50G>A p.Arg17Gln Missense 2/12 -
3-189454251-C-T TP63 c.63-1278C>T - IntronicSNV - 1/13
19-13585804-T-G CACNA1A c.294-19778A>C - IntronicSNV - 1/47
19-1075979-A-G ARHGAP45 c.1233+1101A>G - IntronicSNV - 10/22
19-1075979-A-T ARHGAP45 c.1233+1101A>T - IntronicSNV - 10/22
20-56098733-T-A CTCFL c.529A>T p.Thr177Ser Missense 3/12 -
4-186111639-T-C CFAP97 c.712A>G p.Thr238Ala Missense 2/5 -
8-27204598-A-G PTK2B c.-38+21400A>G - intron_variant - 2/31
3-25617403-C-T RARB c.610-4634C>T - IntronicSNV - 4/7
2-170093296-A-G LRP2 c.4691+317T>C - IntronicSNV - 28/78
8-27306159-G-A PTK2B c.2341-2107G>A - IntronicSNV - 25/31
17-1754380-A-T RPA1 c.273-2015A>T - IntronicSNV - 4/16
16-56969148-G-A HERPUD1 c.149G>A p.Arg50His Missense 2/8 -
14-20898308-C-T KLHL33 c.527G>A p.Arg176Gln Missense 2/4 -
8-10082746-G-A MSRA c.211+17335G>A - IntronicSNV - 2/5
12-971291-C-T WNK1 c.1994C>T p.Thr665Ile Missense 8/28 -
3-119520125-T-A NR1I2 c.1-5973T>A - IntronicSNV - 1/8
3-119520125-T-G NR1I2 c.1-5973T>G - IntronicSNV - 1/8
5-140952546-G-C DIAPH1 c.2358+513C>G - IntronicSNV - 16/27
19-49438363-G-A DHDH c.197G>A p.Ser66Asn Missense 2/7 -
3-178968634-C-T KCNMB3 c.151G>A p.Ala51Thr Missense 2/4 -
3-189572668-G-A TP63 c.580-9353G>A - IntronicSNV - 4/13
13-29016715-G-A FLT1 c.389-4233C>T - IntronicSNV - 3/29
3-178877977-G-A PIK3CA c.-77+11586G>A - intron_variant - 1/20
8-48710957-A-G PRKDC c.10298T>C p.Leu3433Ser Missense 74/86 -
16-19127347-C-T ITPRIPL2 c.1564C>T p.Pro522Ser Missense 1/1 -
2-135142222-A-G MGAT5 c.1381-18337A>G - IntronicSNV - 10/15
17-41244936-G-T BRCA1 c.2612C>A p.Pro871Gln Missense 10/23 -
3-142357223-G-T PLS1 c.-37+14819G>T - intron_variant - 1/15
3-142357223-G-A PLS1 c.-37+14819G>A - intron_variant - 1/15
3-142357223-G-C PLS1 c.-37+14819G>C - intron_variant - 1/15
6-170862300-G-C PSMB1 c.31C>G p.Pro11Ala Missense 1/6 -
17-38632761-C-A TNS4 c.*1079G>T - 3-UTRSNV 13/13 -
17-38632761-C-G TNS4 c.*1079G>C - 3-UTRSNV 13/13 -
6-88862559-C-T CNR1 c.-206-5034G>A - intron_variant - 1/2
6-8081021-G-A EEF1E1 c.385-758C>T - IntronicSNV - 3/3
19-1638919-C-T TCF3 c.146-6515G>A - IntronicSNV - 3/18
9-22003223-C-T CDKN2B c.*2763G>A - 3-UTRSNV 2/2 -
17-41244936-G-A BRCA1 c.2612C>T p.Pro871Leu Missense 10/23 -
17-41244936-G-C BRCA1 c.2612C>G p.Pro871Arg Missense 10/23 -
4-103557077-G-A MANBA c.2102C>T p.Thr701Met Missense 15/17 -
4-103557077-G-C MANBA c.2102C>G p.Thr701Arg Missense 15/17 -
12-1036042-C-G RAD52 c.467+269G>C - IntronicSNV - 6/11
2-56119510-A-T EFEMP1 c.518-10641T>A - IntronicSNV - 5/11
13-103346659-G-A METTL21C c.130+60C>T - IntronicSNV - 1/3
13-32976608-A-G N4BP2L1 c.*471T>C - 3-UTRSNV 5/5 -
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
11-221584-C-T SIRT3 c.543+2494G>A - IntronicSNV - 5/6
1-154997674-T-A DCST2 c.1612-596A>T - IntronicSNV - 10/14
8-27264952-G-A PTK2B c.204+9647G>A - IntronicSNV - 3/31
5-35871190-G-A IL7R c.412G>A p.Val138Ile Missense 4/8 -
3-53272314-T-G TKT c.437+1953A>C - IntronicSNV - 4/13
8-31695632-C-T NRG1 c.37+198685C>T - IntronicSNV - 1/11
10-89673569-C-T PTEN c.165-11701C>T - IntronicSNV - 2/8
4-41264549-C-A UCHL1 c.459+609C>A - IntronicSNV - 6/8
4-41264549-C-T UCHL1 c.459+609C>T - IntronicSNV - 6/8
21-35233517-G-A ITSN1 c.3890+2421G>A - IntronicSNV - 31/39
10-88741850-A-G AGAP11 c.-1029-1047A>G - intron_variant - 1/11
19-3968605-T-C DAPK3 c.62+1067A>G - IntronicSNV - 2/8
19-3968605-T-G DAPK3 c.62+1067A>C - IntronicSNV - 2/8
22-46656479-A-G PKDREJ c.2741T>C p.Leu914Pro Missense 1/1 -
17-41244000-T-C BRCA1 c.3548A>G p.Lys1183Arg Missense 10/23 -
14-20924167-G-C APEX1 c.153G>C p.Gln51His Missense 3/5 -
5-42666898-G-A GHR c.137-22094G>A - IntronicSNV - 3/9
19-4180836-C-T SIRT6 c.137G>A p.Ser46Asn Missense 2/7 -
8-141943746-G-A PTK2 c.35-42878C>T - IntronicSNV - 2/31
8-10064495-C-G MSRA c.143-848C>G - IntronicSNV - 1/5
10-50678717-T-C ERCC6 c.3289A>G p.Met1097Val Missense 18/21 -
6-31604044-T-G PRRC2A c.5683T>G p.Leu1895Val Missense 26/31 -
19-39994711-T-C DLL3 c.653T>C p.Leu218Pro Missense 5/8 -
1-3682070-C-A CCDC27 c.1453-1029C>A - IntronicSNV - 8/11
3-169518455-T-C LRRC34 c.657+3386A>G - IntronicSNV - 6/9
13-103388370-C-T CCDC168 c.14677G>A p.Gly4893Ser Missense 4/4 -
8-32624857-C-T NRG1 c.*2937C>T - IntergenicSNV 12/12 -
22-37581422-G-T C1QTNF6 c.125C>A p.Pro42His Missense 2/4 -
8-32624857-C-A NRG1 c.*2937C>A - IntergenicSNV 12/12 -
6-52850155-G-C GSTA4 c.272+94C>G - IntronicSNV - 4/6
14-73657180-C-A PSEN1 c.549-2172C>A - IntronicSNV - 6/11
14-73657180-C-T PSEN1 c.549-2172C>T - IntronicSNV - 6/11
16-57059484-C-T NLRC5 c.629C>T p.Ser210Leu Missense 5/48 -
7-94946084-A-G PON1 c.163T>C p.Leu55Leu Synonymous 3/9 -
4-110967788-T-G ELOVL6 c.*4706A>C - IntergenicSNV 4/4 -
8-48885436-T-A MCM4 c.1948T>A p.Leu650Met Missense 13/16 -
1-156011444-T-C UBQLN4 c.1485A>G p.Ile495Met Missense 10/11 -
19-4180836-C-G SIRT6 c.137G>C p.Ser46Thr Missense 2/7 -
1-65873626-G-A DNAJC6 c.2492-698G>A - IntronicSNV - 16/18
6-35969270-T-C SLC26A8 c.329-1385A>G - IntronicSNV - 3/19
19-49313000-T-C BCAT2 c.24+1241A>G - IntronicSNV - 1/8
6-152166801-C-A ESR1 c.643+2879C>A - IntronicSNV - 2/7
16-14029033-G-A ERCC4 c.1244G>A p.Arg415Gln Missense 8/11 -
8-141622537-C-T AGO2 c.22+23047G>A - IntronicSNV - 1/18
7-94946084-A-T PON1 c.163T>A p.Leu55Met Missense 3/9 -
1-115867271-G-A NGF c.-137+13554C>T - intron_variant - 1/2
19-7184801-C-T INSR c.653-153G>A - IntronicSNV - 2/21
4-141483471-T-A UCP1 c.685A>T p.Met229Leu Missense 5/6 -
7-143017807-G-T CLCN1 c.352G>T p.Gly118Trp Missense 3/23 -
2-170211377-G-A LRP2 c.79+7454C>T - IntronicSNV - 1/78
3-53138254-T-C RFT1 c.958-141A>G - IntronicSNV - 9/12
15-43658935-C-T ZSCAN29 c.595G>A p.Gly199Ser Missense 3/5 -
3-53138254-T-A RFT1 c.958-141A>T - IntronicSNV - 9/12
12-53867312-G-A PCBP2 c.1064+1721G>A - IntronicSNV - 14/14
19-13481788-C-T CACNA1A c.631+714G>A - IntronicSNV - 4/47
6-53401903-C-T GCLC c.150+7391G>A - IntronicSNV - 1/14
8-32116394-C-G NRG1 c.38-336952C>G - IntronicSNV - 1/11
8-32116394-C-T NRG1 c.38-336952C>T - IntronicSNV - 1/11
2-216956929-C-A TMEM169 c.1-3758C>A - IntronicSNV - 1/2
13-41143190-G-A FOXO1 c.631-8193C>T - IntronicSNV - 1/2
11-67353579-C-T GSTP1 c.341C>T p.Ala114Val Missense 6/7 -
20-55983073-C-T RBM38 c.*470C>T - 3-UTRSNV 3/3 -
19-13564584-C-T CACNA1A c.400-755G>A - IntronicSNV - 2/47
17-44109474-G-A KANSL1 c.3029C>T p.Pro1010Leu Missense 14/15 -
12-990912-A-C WNK1 c.3166A>C p.Thr1056Pro Missense 13/28 -
11-116745484-C-T SIK3 c.1427+390G>A - intron_variant - 11/23
12-4463204-C-T TIGAR c.*1347C>T - 3-UTRSNV 6/6 -
12-4463204-C-G TIGAR c.*1347C>G - 3-UTRSNV 6/6 -
16-1376892-C-G UBE2I c.*2098C>G - 3-UTRSNV 7/7 -
16-1376892-C-T UBE2I c.*2098C>T - 3-UTRSNV 7/7 -
9-119106881-C-A PAPPA c.3671C>A p.Ser1224Tyr Missense 14/22 -
15-91326099-C-A BLM c.2603C>A p.Pro868Gln Missense 13/22 -
15-91326099-C-G BLM c.2603C>G p.Pro868Arg Missense 13/22 -
12-4436632-A-G TIGAR c.33-3814A>G - IntronicSNV - 1/5
6-31601735-G-A PRRC2A c.4688G>A p.Arg1563Gln Missense 18/31 -
5-149450132-T-C CSF1R c.1085A>G p.His362Arg Missense 8/22 -
3-37053568-A-T MLH1 c.655A>T p.Ile219Phe Missense 8/19 -
10-49704689-G-A ARHGAP22 c.323-16882C>T - IntronicSNV - 3/9
5-35910529-C-T CAPSL c.254G>A p.Arg85Gln Missense 3/5 -
22-24179132-G-A SMARCB1 c.*2765G>A - IntergenicSNV 9/9 -
3-123019763-T-C ADCY5 c.2725-621A>G - IntronicSNV - 14/20
8-10211788-C-T MSRA c.543+34289C>T - IntronicSNV - 5/5
2-170143192-G-A LRP2 c.1042+2344C>T - IntronicSNV - 9/78
13-103388015-C-T CCDC168 c.15032G>A p.Gly5011Glu Missense 4/4 -
7-94949537-T-C PON1 c.75-1832A>G - IntronicSNV - 1/8
17-64727722-C-G PRKCA c.919-1084C>G - IntronicSNV - 8/16
22-46656246-T-A PKDREJ c.2974A>T p.Thr992Ser Missense 1/1 -
3-119520125-T-C NR1I2 c.1-5973T>C - IntronicSNV - 1/8
15-99361263-T-C IGF1R c.641-73291T>C - IntronicSNV - 2/20
6-88856397-T-C CNR1 c.1-1404A>G - IntronicSNV - 1/2
8-10120297-T-C MSRA c.331+17564T>C - IntronicSNV - 3/5
10-90699679-G-T ACTA2 c.617-224C>A - IntronicSNV - 6/8
3-25608576-C-G RARB c.449-2673C>G - IntronicSNV - 3/7
3-37053568-A-C MLH1 c.655A>C p.Ile219Leu Missense 8/19 -
3-37053568-A-G MLH1 c.655A>G p.Ile219Val Missense 8/19 -
19-49246866-A-G IZUMO1 c.419-84T>C - IntronicSNV - 5/9
7-55181361-G-A EGFR c.89-28618G>A - IntronicSNV - 1/27
3-25603432-T-G RARB c.449-7817T>G - IntronicSNV - 3/7
2-170138506-T-A LRP2 c.1171+877A>T - IntronicSNV - 10/78
20-56190634-C-T ZBP1 c.262G>A p.Glu88Lys Missense 3/8 -
6-108916573-T-C FOXO3 c.621+33541T>C - IntronicSNV - 1/2
19-18351674-A-G PDE4C c.-210+7307T>C - intron_variant - 1/15
2-170138506-T-C LRP2 c.1171+877A>G - IntronicSNV - 10/78
11-233067-C-T SIRT3 c.196G>A p.Val66Ile Missense 3/7 -
17-1859542-C-T RTN4RL1 c.14-18440G>A - IntronicSNV - 1/1
22-41549297-A-G EP300 c.3142+943A>G - IntronicSNV - 16/30
8-27398432-T-C EPHX2 c.1379+259T>C - IntronicSNV - 15/18
2-216236712-T-A FN1 c.6091A>T p.Ile2031Phe Missense 38/44 -
22-46553021-A-G PPARA c.-43+5148A>G - intron_variant - 2/7
8-27156502-T-C TRIM35 c.436-426A>G - IntronicSNV - 1/5
22-41549297-A-T EP300 c.3142+943A>T - IntronicSNV - 16/30
8-31743058-T-G NRG1 c.37+246111T>G - IntronicSNV - 1/11
9-119027076-T-C PAPPA c.2733-1060T>C - IntronicSNV - 7/21
8-10079637-A-G MSRA c.211+14226A>G - IntronicSNV - 2/5
6-52849325-C-T GSTA4 c.351G>A p.Gln117Gln Synonymous 5/7 -
5-141034245-A-C ARAP3 c.4150-243T>G - IntronicSNV - 32/32
15-41069999-C-T DNAJC17 c.296-1174G>A - IntronicSNV - 4/10
8-48739305-G-A PRKDC c.8692C>T - missense_variant 64/86 -
22-37632180-G-T RAC2 c.108-3222C>A - IntronicSNV - 2/6
22-37632180-G-A RAC2 c.108-3222C>T - IntronicSNV - 2/6
2-216236712-T-C FN1 c.6091A>G p.Ile2031Val Missense 38/44 -
14-73634466-T-G PSEN1 c.88-3039T>G - IntronicSNV - 3/11
3-119523746-A-T NR1I2 c.1-2352A>T - IntronicSNV - 1/8
19-7183551-C-T INSR c.974+776G>A - IntronicSNV - 3/21
21-35228055-A-G ITSN1 c.3662-985A>G - IntronicSNV - 29/39
1-40759064-C-T ZMPSTE24 c.*723C>T - 3-UTRSNV 10/10 -
14-73662629-C-T PSEN1 c.770-2110C>T - IntronicSNV - 7/11
6-137160506-A-G PEX7 c.340-6247A>G - IntronicSNV - 3/9
17-1703982-C-T SMYD4 c.706G>A p.Gly236Ser Missense 5/11 -
3-119523746-A-G NR1I2 c.1-2352A>G - IntronicSNV - 1/8
22-22277571-A-C PPM1F c.1259T>G p.Leu420Arg Missense 8/8 -
17-38632761-C-T TNS4 c.*1079G>A - 3-UTRSNV 13/13 -
1-226491656-G-A LIN9 c.80-2750C>T - IntronicSNV - 1/14
13-33628193-G-C KL c.1109G>C p.Cys370Ser Missense 2/5 -
17-64576674-C-G PRKCA c.289-60799C>G - IntronicSNV - 3/16
14-73712303-T-C PAPLN c.171-41T>C - IntronicSNV - 3/25
14-73712303-T-G PAPLN c.171-41T>G - IntronicSNV - 3/25
8-10090097-C-G MSRA c.212-12517C>G - IntronicSNV - 2/5
3-189400282-T-C TP63 c.62+50916T>C - IntronicSNV - 1/13
7-2227707-T-C MAD1L1 c.986+25140A>G - IntronicSNV - 10/18
3-12468589-C-G PPARG c.1187-6808C>G - IntronicSNV - 6/6
17-1783812-T-C RPA1 c.1093-25T>C - IntronicSNV - 11/16
2-170143192-G-C LRP2 c.1042+2344C>G - IntronicSNV - 9/78
8-31743058-T-A NRG1 c.37+246111T>A - IntronicSNV - 1/11
18-60972718-G-A BCL2 c.585+12597C>T - IntronicSNV - 2/2
8-38269514-T-C FGFR1 c.*1632A>G - 3-UTRSNV 18/18 -
8-10236815-A-G MSRA c.544-48843A>G - IntronicSNV - 5/5
13-103385534-C-T CCDC168 c.17513G>A p.Arg5838Gln Missense 4/4 -
10-90759613-A-G FAS c.31-3173A>G - IntronicSNV - 1/8
12-124799387-G-T RFLNA c.*316G>T - 3-UTRSNV 3/3 -
12-124799387-G-A RFLNA c.*316G>A - 3-UTRSNV 3/3 -