PMID: 31884074

Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology
N Murphy, R Carreras-Torres, M Song, AT Chan, RM Martin, N Papadimitriou, N Dimou, KK Tsilidis, B Banbury, KE Bradbury, J Besevic, S Rinaldi, E Riboli, AJ Cross, RC Travis, C Agnoli, D Albanes, SI Berndt, S Bézieau, DT Bishop, H Brenner, DD Buchanan, NC Onland-Moret, A Burnett-Hartman, PT Campbell, G Casey, S Castellví-Bel, J Chang-Claude, MD Chirlaque, A Chapelle, D English, JC Figueiredo, SJ Gallinger, GG Giles, SB Gruber, A Gsur, J Hampe, H Hampel, TA Harrison, M Hoffmeister, L Hsu, WY Huang, JR Huyghe, MA Jenkins, TO Keku, T Kühn, SS Kweon, L Le Marchand, CI Li, L Li, A Lindblom, V Martín, RL Milne, V Moreno, PA Newcomb, K Offit, S Ogino, J Ose, V Perduca, AI Phipps, EA Platz, JD Potter, C Qu, G Rennert, LC Sakoda, C Schafmayer, RE Schoen, ML Slattery, CM Tangen, CM Ulrich, FJ van Duijnhoven, B Van Guelpen, K Visvanathan, P Vodicka, L Vodickova, V Vymetalkova, H Wang, E White, A Wolk, MO Woods, AH Wu, W Zheng, U Peters, MJ Gunter
2019-12-26

294 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-109689972-C-T ZNF462 c.3779C>T p.Thr1260Met Missense 3/13 -
6-28268824-A-G PGBD1 c.1193A>G p.Asn398Ser Missense 7/7 -
17-5471902-T-G NLRP1 c.653-8539A>C - IntronicSNV - 3/16
16-10532211-A-C ATF7IP2 c.1095+119A>C - IntronicSNV - 5/11
16-10532211-A-G ATF7IP2 c.1095+119A>G - IntronicSNV - 5/11
5-42719239-A-C GHR c.1630A>C p.Ile544Leu Missense 10/10 -
16-10532211-A-T ATF7IP2 c.1095+119A>T - IntronicSNV - 5/11
11-120224650-A-G ARHGEF12 c.32+16666A>G - IntronicSNV - 1/40
19-41813375-T-C HNRNPUL1 c.*905T>C - 3-UTRSNV 15/15 -
13-42701941-G-A DGKH c.303+232G>A - IntronicSNV - 2/29
7-137603188-A-G CREB3L2 c.320-2430T>C - IntronicSNV - 2/11
3-98502628-T-G ST3GAL6 c.336-1161T>G - IntronicSNV - 6/10
3-12449963-G-A PPARG c.735+2383G>A - IntronicSNV - 5/6
11-66988048-C-A KDM2A c.957+1174C>A - IntronicSNV - 10/20
1-154556425-G-A ADAR c.*857C>T - 3-UTRSNV 15/15 -
7-44808017-G-C ZMIZ2 c.*795G>C - 3-UTRSNV 19/19 -
17-40716235-C-T COASY c.915+42C>T - IntronicSNV - 2/8
5-180661980-T-C TRIM41 c.1516T>C p.Tyr506His Missense 7/8 -
15-99524022-G-A PGPEP1L c.22-9635C>T - IntronicSNV - 2/4
14-79939525-C-T NRXN3 c.429+5780C>T - IntronicSNV - 2/6
12-121416864-C-T HNF1A c.293C>T p.Ala98Val Missense 1/10 -
19-48389363-G-A SULT2A1 c.136+16C>T - IntronicSNV - 1/5
6-128355316-A-G PTPRK c.2195-24903T>C - IntronicSNV - 13/30
15-51549044-G-A CYP19A1 c.1-13935C>T - IntronicSNV - 1/9
2-203425475-C-T BMPR2 c.*806C>T - 3-UTRSNV 13/13 -
12-89917518-A-G POC1B-GALNT4 c.800T>C p.Ile267Thr Missense 3/3 -
19-7179320-G-T INSR c.975-4578C>A - IntronicSNV - 3/21
6-18399750-T-C RNF144B c.1-16T>C - 5-UTRSNV 2/8 -
12-57648644-C-T R3HDM2 c.2843G>A p.Arg948His Missense 24/24 -
14-92791479-A-G SLC24A4 c.131-733A>G - IntronicSNV - 1/16
14-94844947-C-T SERPINA1 c.1096G>A p.Glu366Lys Missense 5/5 -
14-94844947-C-G SERPINA1 c.1096G>C p.Glu366Gln Missense 5/5 -
5-102518795-A-G PPIP5K2 c.2923-140A>G - IntronicSNV - 24/29
5-102518795-A-C PPIP5K2 c.2923-140A>C - IntronicSNV - 24/29
11-18326758-C-T HPS5 c.896+211G>A - IntronicSNV - 8/22
22-29448643-C-T ZNRF3 c.2768-924C>T - IntronicSNV - 8/8
22-29448643-C-G ZNRF3 c.2768-924C>G - IntronicSNV - 8/8
22-29448643-C-A ZNRF3 c.2768-924C>A - IntronicSNV - 8/8
16-53170069-A-G CHD9 c.1-19933A>G - IntronicSNV - 1/38
4-7219933-T-A SORCS2 c.480+25080T>A - IntronicSNV - 1/26
4-7219933-T-G SORCS2 c.480+25080T>G - IntronicSNV - 1/26
8-73769173-G-A KCNB2 c.580-78997G>A - IntronicSNV - 2/2
12-123805950-G-A SBNO1 c.2320+132C>T - IntronicSNV - 17/31
10-96038686-G-A PLCE1 c.4666-853G>A - IntronicSNV - 19/32
7-69625029-A-G AUTS2 c.660+25472A>G - IntronicSNV - 4/17
7-94033031-T-C COL1A2 c.280-837T>C - IntronicSNV - 6/51
17-38131187-C-G GSDMA c.941C>G p.Thr314Ser Missense 10/12 -
2-242175331-T-C HDLBP c.2905-322A>G - IntronicSNV - 21/27
12-66351826-T-G HMGA2 c.283-5199T>G - IntronicSNV - 4/4
1-176522365-C-T PAPPA2 c.1-3094C>T - IntronicSNV - 1/22
1-176522365-C-G PAPPA2 c.1-3094C>G - IntronicSNV - 1/22
4-145653694-T-A HHIP c.1761-2199T>A - IntronicSNV - 11/12
7-133743393-A-G EXOC4 c.2688-5651A>G - IntronicSNV - 17/17
16-28883241-A-G SH2B1 c.1450A>G p.Thr484Ala Missense 5/9 -
17-79074817-C-T BAIAP2 c.642+937C>T - IntronicSNV - 7/13
2-40621239-T-G SLC8A1 c.1808+34374A>C - IntronicSNV - 2/10
6-154420368-A-T OPRM1 c.1164+7761A>T - IntronicSNV - 3/3
15-51549044-G-T CYP19A1 c.1-13935C>A - IntronicSNV - 1/9
22-46238123-T-C ATXN10 c.1238-748T>C - IntronicSNV - 10/11
18-60845884-T-A BCL2 c.586-49892A>T - IntronicSNV - 2/2
10-13535398-C-T BEND7 c.416-522G>A - IntronicSNV - 4/8
11-77923019-T-C USP35 c.2889+1229T>C - IntronicSNV - 10/10
16-28883241-A-T SH2B1 c.1450A>T p.Thr484Ser Missense 5/9 -
4-39700173-C-T UBE2K c.63+163C>T - IntronicSNV - 1/6
20-20033319-A-G CRNKL1 c.115T>C p.Phe39Leu Missense 2/15 -
7-129663496-C-A ZC3HC1 c.1088G>T p.Arg363Leu Missense 8/10 -
6-126661502-G-C CENPW c.83G>C p.Arg28Pro Missense 1/3 -
6-126661502-G-T CENPW c.83G>T p.Arg28Leu Missense 1/3 -
17-44847834-T-A WNT3 c.323-420A>T - IntronicSNV - 2/4
3-107252190-A-T BBX c.-84+6945A>T - intron_variant - 2/16
9-34107505-C-T DCAF12 c.392G>A p.Arg131Gln Missense 3/9 -
17-44847834-T-G WNT3 c.323-420A>C - IntronicSNV - 2/4
15-43237414-C-T UBR1 c.*113G>A - 3-UTRSNV 47/47 -
1-205690941-T-C NUCKS1 c.230-1160A>G - IntronicSNV - 4/6
7-6690240-T-C ZNF316 c.707-1694T>C - IntronicSNV - 8/8
11-13356030-A-G ARNTL c.-135+8016A>G - intron_variant - 3/19
6-27278020-C-A POM121L2 c.1930G>T p.Gly644Cys Missense 1/1 -
1-214162734-G-T PROX1 c.-68+670G>T - intron_variant - 1/4
6-130371055-C-T L3MBTL3 c.289+80C>T - IntronicSNV - 5/22
19-54759361-T-G LILRB5 c.740A>C p.Asp247Ala Missense 5/13 -
7-55982894-G-A ZNF713 c.87+2478G>A - intron_variant - 4/6
22-36179095-G-A RBFOX2 c.253-1305C>T - IntronicSNV - 2/12
22-36179095-G-T RBFOX2 c.253-1305C>A - IntronicSNV - 2/12
6-38091030-G-A ZFAND3 c.529+6515G>A - IntronicSNV - 5/5
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
10-22839463-C-A PIP4K2A c.792+125G>T - IntronicSNV - 7/9
2-56096892-A-G EFEMP1 c.1320+963T>C - IntronicSNV - 11/11
10-5254847-A-G AKR1C4 c.681-110A>G - IntronicSNV - 6/8
3-48628014-G-A COL7A1 c.1784C>T p.Pro595Leu Missense 14/118 -
6-25813150-G-A SLC17A1 c.806C>T p.Thr269Ile Missense 8/13 -
12-40693806-G-T LRRK2 c.3496+747G>T - IntronicSNV - 25/50
5-58333125-T-C PDE4D c.921+1561A>G - IntronicSNV - 6/14
5-41464841-A-G PLCXD3 c.103+45685T>C - IntronicSNV - 1/2
9-102948685-A-G INVS c.274-39659A>G - IntronicSNV - 3/16
16-19276597-T-A SYT17 c.1229-1605T>A - IntronicSNV - 7/7
16-19276597-T-C SYT17 c.1229-1605T>C - IntronicSNV - 7/7
11-61579463-A-G FADS1 c.684+480T>C - IntronicSNV - 3/11
20-3217989-T-G SLC4A11 c.88+201A>C - IntronicSNV - 2/19
15-44947434-T-C SPG11 c.869+1859A>G - IntronicSNV - 4/37
2-27730940-T-C GCKR c.1337T>C p.Leu446Pro Missense 15/19 -
15-93452846-G-A CHD2 c.62+8317G>A - IntronicSNV - 2/38
6-31514247-A-G ATP6V1G2 c.82+8T>C - IntronicSNV - 1/2
5-168256455-T-C SLIT3 c.558-6119A>G - IntronicSNV - 6/35
16-1833508-G-A NUBP2 c.16+471G>A - IntronicSNV - 1/6
7-44808017-G-A ZMIZ2 c.*795G>A - 3-UTRSNV 19/19 -
20-39832628-T-C ZHX3 c.929A>G p.Asn310Ser Missense 3/4 -
11-65543736-T-C AP5B1 c.*1591A>G - 3-UTRSNV 2/2 -
9-128284378-G-A MAPKAP1 c.959-15682C>T - IntronicSNV - 7/11
9-119341544-C-T ASTN2 c.3202+39059G>A - IntronicSNV - 18/21
15-43820717-C-T MAP1A c.7046C>T p.Pro2349Leu Missense 4/6 -
12-66351826-T-C HMGA2 c.283-5199T>C - IntronicSNV - 4/4
17-1638718-A-G WDR81 c.2027-148A>G - IntronicSNV - 8/10
3-51281664-A-T DOCK3 c.2103-2493A>T - IntronicSNV - 21/52
3-51281664-A-G DOCK3 c.2103-2493A>G - IntronicSNV - 21/52
1-11895675-A-G CLCN6 c.1794-349A>G - IntronicSNV - 17/22
1-92708973-A-G C1orf146 c.161-801A>G - IntronicSNV - 3/5
14-60976537-C-A SIX6 c.421C>A p.His141Asn Missense 1/2 -
14-77928525-A-G AHSA1 c.294A>G p.Gln98Gln Synonymous 3/9 -
8-10643164-C-T PINX1 c.472-19738G>A - IntronicSNV - 6/6
6-26463575-G-A BTN2A1 c.534G>A p.Trp178* Nonsense 4/8 -
6-26463575-G-T BTN2A1 c.534G>T p.Trp178Cys Missense 4/8 -
1-221053545-T-C HLX c.346T>C p.Ser116Pro Missense 1/4 -
5-76012745-C-T F2R c.88+525C>T - IntronicSNV - 1/1
8-10643164-C-G PINX1 c.472-19738G>C - IntronicSNV - 6/6
10-114773926-C-T TCF7L2 c.382-25858C>T - IntronicSNV - 3/13
7-99130834-G-T ZKSCAN5 c.*962G>T - 3-UTRSNV 7/7 -
17-19869544-C-T AKAP10 c.136+2183G>A - IntronicSNV - 2/14
19-49232226-G-A RASIP1 c.1801C>T p.Arg601Cys Missense 5/12 -
10-95347041-G-A FFAR4 c.809G>A p.Arg270His Missense 4/4 -
1-65898996-C-T LEPR c.-21+7935C>T - intron_variant - 2/19
15-40916237-A-G KNL1 c.3775A>G p.Lys1259Glu Missense 10/26 -
7-129663496-C-T ZC3HC1 c.1088G>A p.Arg363His Missense 8/10 -
16-51170026-G-T SALL1 c.*997C>A - 3-UTRSNV 3/3 -
7-2875420-G-A GNA12 c.309+8067C>T - IntronicSNV - 1/3
22-30529631-C-A HORMAD2 c.819+11428C>A - IntronicSNV - 10/10
5-35230075-C-A PRLR c.-106+295G>T - intron_variant - 1/9
7-99130834-G-A ZKSCAN5 c.*962G>A - 3-UTRSNV 7/7 -
19-36147315-A-G COX6B1 c.207+1742A>G - IntronicSNV - 3/3
11-113266411-A-C ANKK1 c.682+281A>C - IntronicSNV - 4/7
16-3492048-G-T ZNF597 c.33+1073C>A - IntronicSNV - 2/3
9-19440136-G-A ACER2 c.503+5054G>A - IntronicSNV - 4/5
12-905582-T-C WNK1 c.760-17226T>C - IntronicSNV - 1/27
2-73685852-G-A ALMS1 c.7671+3430G>A - IntronicSNV - 9/22
3-138078348-T-A MRAS c.-19+10739T>A - intron_variant - 1/5
14-93910816-C-A UNC79 c.-350-23201C>A - intron_variant - 1/49
1-23847464-C-A E2F2 c.678G>T p.Gln226His Missense 4/7 -
5-133864599-G-A JADE2 c.-1+2623G>A - intron_variant - 1/10
3-23368583-G-A UBE2E2 c.227+109780G>A - IntronicSNV - 3/5
1-179341999-T-G AXDND1 c.374+2786T>G - IntronicSNV - 4/25
6-32064726-T-G TNXB c.904A>C p.Thr302Pro Missense 3/44 -
13-47154966-G-A LRCH1 c.307+27128G>A - IntronicSNV - 1/18
12-94150321-T-G CRADD c.298+77473T>G - IntronicSNV - 2/2
5-64020316-T-G SREK1IP1 c.363A>C p.Lys121Asn Missense 5/5 -
15-63803863-A-G USP3 c.91+6834A>G - IntronicSNV - 1/13
6-18399750-T-A RNF144B c.1-16T>A - 5-UTRSNV 2/8 -
7-127511705-T-C SND1 c.1344-16250T>C - IntronicSNV - 12/23
2-113978650-C-T PAX8 c.1190-895G>A - IntronicSNV - 10/11
20-49201102-A-C PTPN1 c.*1850A>C - 3-UTRSNV 9/9 -
9-96214928-G-A FAM120A c.474+257G>A - IntronicSNV - 1/17
19-34700561-C-T LSM14A c.538+605C>T - IntronicSNV - 4/9
16-17476853-T-C XYLT1 c.364-24946A>G - IntronicSNV - 1/11
17-73794354-C-T UNK c.105-11487C>T - IntronicSNV - 1/15
17-53360799-G-T HLF c.451+15352G>T - IntronicSNV - 2/3
12-115108136-T-C TBX3 c.*1510A>G - 3-UTRSNV 7/7 -
2-27730940-T-G GCKR c.1337T>G p.Leu446Arg Missense 15/19 -
17-67081278-A-G ABCA6 c.4075T>C p.Cys1359Arg Missense 32/39 -
6-129314749-T-C LAMA2 c.113-56314T>C - IntronicSNV - 1/64
17-64305051-A-G PRKCA c.205+2806A>G - IntronicSNV - 2/16
17-17691439-C-T RAI1 c.1-4824C>T - IntronicSNV - 1/5
6-108983527-C-T FOXO3 c.622-1131C>T - IntronicSNV - 1/2
3-46989904-G-A CCDC12 c.136-7349C>T - IntronicSNV - 2/7
3-142078759-C-T XRN1 c.3409G>A p.Asp1137Asn Missense 30/42 -
18-50726559-G-A DCC c.1574-5027G>A - IntronicSNV - 9/28
11-126241979-G-A ST3GAL4 c.-61+15782G>A - intron_variant - 1/10
8-116610180-T-C TRPS1 c.2096+5920A>G - IntronicSNV - 4/6
8-134571618-T-G ST3GAL1 c.-785+12318A>C - intron_variant - 1/8
11-94192103-T-G MRE11 c.1500+471A>C - IntronicSNV - 13/19
5-59028853-T-C PDE4D c.455+160142A>G - IntronicSNV - 1/14
10-117988795-C-T GFRA1 c.418+40220G>A - IntronicSNV - 3/8
1-2202967-T-A SKI c.970-31450T>A - IntronicSNV - 1/6
1-2202967-T-C SKI c.970-31450T>C - IntronicSNV - 1/6
18-74983055-A-G GALR1 c.*2197A>G - IntergenicSNV 3/3 -
7-99674870-C-A ZNF3 c.55+56G>T - IntronicSNV - 3/5
3-178914879-T-C PIK3CA c.1-1735T>C - IntronicSNV - 1/20
1-27278573-T-C KDF1 c.299A>G p.Gln100Arg Missense 2/4 -
11-2156930-G-A IGF2 c.1-177C>T - IntronicSNV - 1/3
15-67443926-C-T SMAD3 c.207-13307C>T - IntronicSNV - 1/8
5-58333125-T-G PDE4D c.921+1561A>C - IntronicSNV - 6/14
1-243710190-T-A AKT3 c.1164-1291A>T - IntronicSNV - 10/13
4-148982559-G-A ARHGAP10 c.2028-1740G>A - IntronicSNV - 20/22
1-21233570-C-T EIF4G3 c.1496-2106G>A - IntronicSNV - 9/31
8-81408409-T-C ZBTB10 c.973-3320T>C - IntronicSNV - 1/6
14-69819101-G-A GALNT16 c.*216G>A - 3-UTRSNV 15/15 -
2-231039037-T-C SP110 c.1591-1362A>G - IntronicSNV - 14/18
16-81603001-G-A CMIP c.19-38171G>A - IntronicSNV - 1/20
16-81603001-G-T CMIP c.19-38171G>T - IntronicSNV - 1/20
7-150498245-T-C TMEM176B c.-170A>G - 5_prime_UTR_variant 1/7 -
11-3771924-C-T NUP98 c.1267+2622G>A - IntronicSNV - 11/32
4-186607420-C-T SORBS2 c.10+4296G>A - IntronicSNV - 3/22
6-154420368-A-C OPRM1 c.1164+7761A>C - IntronicSNV - 3/3
12-11855773-G-A ETV6 c.34-49611G>A - IntronicSNV - 1/7
4-145653694-T-C HHIP c.1761-2199T>C - IntronicSNV - 11/12
14-75471803-G-A EIF2B2 c.597+200G>A - IntronicSNV - 4/7
1-10637709-C-T PEX14 c.170-21586C>T - IntronicSNV - 3/8
7-2015970-C-T MAD1L1 c.1505+4118G>A - IntronicSNV - 15/18
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
17-15924370-A-G TTC19 c.677-3961A>G - IntronicSNV - 7/9
5-35230075-C-G PRLR c.-106+295G>C - intron_variant - 1/9
3-141154542-T-C ZBTB38 c.1-6689T>C - IntronicSNV - 7/7
11-55541284-G-A OR5D13 c.371G>A p.Arg124His Missense 1/1 -
16-4420787-T-C CORO7-PAM16 c.786-5241A>G - IntronicSNV - 9/30
2-178565913-T-C PDE11A c.848A>G p.Tyr283Cys Missense 11/17 -
14-60976537-C-G SIX6 c.421C>G p.His141Asp Missense 1/2 -
17-61649170-G-A DCAF7 c.139-6661G>A - IntronicSNV - 1/7
5-53292390-A-C ARL15 c.463-109847T>G - IntronicSNV - 4/4
1-22022176-T-G USP48 c.2728-462A>C - IntronicSNV - 22/26
3-33457493-C-A UBP1 c.342+757G>T - IntronicSNV - 3/15
6-32064726-T-C TNXB c.904A>G p.Thr302Ala Missense 3/44 -
9-98254526-C-A PTCH1 c.395-6370G>T - IntronicSNV - 2/23
13-42701941-G-T DGKH c.303+232G>T - IntronicSNV - 2/29
5-102518795-A-T PPIP5K2 c.2923-140A>T - IntronicSNV - 24/29
3-101084604-T-C SENP7 c.1318+670A>G - IntronicSNV - 9/23
4-169345005-T-C DDX60L c.1931-80A>G - IntronicSNV - 14/37
17-57836134-C-G VMP1 c.415-6198C>G - IntronicSNV - 5/11
11-47306585-G-C MADD c.2251G>C p.Val751Leu Missense 13/33 -
11-47306585-G-A MADD c.2251G>A p.Val751Met Missense 13/33 -
17-57836134-C-T VMP1 c.415-6198C>T - IntronicSNV - 5/11
4-90035549-A-G TIGD2 c.1424A>G p.His475Arg Missense 1/1 -
5-173382761-G-A CPEB4 c.1963-152G>A - IntronicSNV - 9/9
4-90035549-A-T TIGD2 c.1424A>T p.His475Leu Missense 1/1 -
12-111522026-T-G CUX2 c.63+49982T>G - IntronicSNV - 1/21
5-173382761-G-T CPEB4 c.1963-152G>T - IntronicSNV - 9/9
20-62328375-A-T TNFRSF6B c.255A>T p.Leu85Leu Synonymous 1/3 -
6-160674632-G-A SLC22A2 c.519-2898C>T - IntronicSNV - 2/10
6-20404420-T-A E2F3 c.18+357T>A - IntronicSNV - 1/6
3-138078348-T-C MRAS c.-19+10739T>C - intron_variant - 1/5
3-107252190-A-G BBX c.-84+6945A>G - intron_variant - 2/16
6-20404420-T-C E2F3 c.18+357T>C - IntronicSNV - 1/6
6-20404420-T-G E2F3 c.18+357T>G - IntronicSNV - 1/6
16-31093954-C-T ZNF646 c.5378-338C>T - IntronicSNV - 2/2
10-22839463-C-G PIP4K2A c.792+125G>C - IntronicSNV - 7/9
8-145020636-G-A PLEC c.194-7776C>T - IntronicSNV - 2/32
11-49227620-A-G FOLH1 c.223T>C p.Tyr75His Missense 2/19 -
19-38758752-C-T SPINT2 c.106+3114C>T - IntronicSNV - 1/5
3-142078759-C-G XRN1 c.3409G>C p.Asp1137His Missense 30/42 -
17-38131187-C-A GSDMA c.941C>A p.Thr314Asn Missense 10/12 -
12-56486159-G-A ERBB3 c.1110-372G>A - IntronicSNV - 9/27
6-152164239-C-T ESR1 c.643+317C>T - IntronicSNV - 2/7
18-60845884-T-C BCL2 c.586-49892A>G - IntronicSNV - 2/2
1-243710190-T-C AKT3 c.1164-1291A>G - IntronicSNV - 10/13
4-100054827-C-T ADH4 c.583-1912G>A - IntronicSNV - 5/8
12-46265916-C-T ARID2 c.4922+11184C>T - IntronicSNV - 16/20
10-53215020-T-C PRKG1 c.434-12463T>C - IntronicSNV - 2/17
1-65383002-A-C JAK1 c.1-31055T>G - IntronicSNV - 1/24
22-31885316-C-T EIF4ENIF1 c.-28+364G>A - intron_variant - 1/18
10-12459773-A-G CAMK1D c.92+67864A>G - IntronicSNV - 1/9
22-31885316-C-G EIF4ENIF1 c.-28+364G>C - intron_variant - 1/18
2-26088769-C-T ASXL2 c.57+12266G>A - IntronicSNV - 1/12
3-49758764-A-G RNF123 c.*26A>G - 3-UTRSNV 39/39 -
1-92708973-A-C C1orf146 c.161-801A>C - IntronicSNV - 3/5
7-114116881-G-A FOXP2 c.168+50147G>A - IntronicSNV - 2/16
19-54759361-T-C LILRB5 c.740A>G p.Asp247Gly Missense 5/13 -
2-40621239-T-C SLC8A1 c.1808+34374A>G - IntronicSNV - 2/10
16-1838836-C-G NUBP2 c.*121C>G - 3-UTRSNV 7/7 -
3-42679777-T-G NKTR c.2581T>G p.Leu861Val Missense 13/17 -
11-8530218-A-G STK33 c.-162+24677T>C - intron_variant - 2/13
16-1838836-C-A NUBP2 c.*121C>A - 3-UTRSNV 7/7 -
19-4048561-G-C ZBTB7A c.1263-319C>G - IntronicSNV - 2/2
19-4048561-G-T ZBTB7A c.1263-319C>A - IntronicSNV - 2/2
5-136809831-T-C SPOCK1 c.186+24231A>G - IntronicSNV - 2/10
12-102838128-G-A IGF1 c.221-24660C>T - IntronicSNV - 2/3
11-2156930-G-C IGF2 c.1-177C>G - IntronicSNV - 1/3
15-64940718-T-C ZNF609 c.974-21827T>C - IntronicSNV - 3/9
11-56143715-A-G OR8U1 c.616A>G p.Met206Val Missense 1/1 -
11-55541284-G-T OR5D13 c.371G>T p.Arg124Leu Missense 1/1 -
1-174916323-C-T RABGAP1L c.298-10271C>T - IntronicSNV - 2/8
10-62055781-C-T ANK3 c.115-16384G>A - IntronicSNV - 1/43
13-114551993-T-C GAS6 c.256-970A>G - IntronicSNV - 2/14
1-22022176-T-A USP48 c.2728-462A>T - IntronicSNV - 22/26
20-10643850-A-C JAG1 c.439+761T>G - IntronicSNV - 3/25
20-10643850-A-T JAG1 c.439+761T>A - IntronicSNV - 3/25
8-135661278-G-A ZFAT c.160+8526C>T - IntronicSNV - 3/16
11-46745003-C-G F2 c.494C>G p.Thr165Arg Missense 6/14 -
11-46745003-C-T F2 c.494C>T p.Thr165Met Missense 6/14 -
22-39096602-T-C JOSD1 c.1-610A>G - IntergenicSNV 2/5 -
3-14158725-T-C CHCHD4 c.62-701A>G - IntronicSNV - 2/3
20-62328375-A-G TNFRSF6B c.255A>G p.Leu85Leu Synonymous 1/3 -
2-42693056-C-T KCNG3 c.633-21337G>A - IntronicSNV - 1/1
1-68692642-A-G WLS c.106+5235T>C - IntronicSNV - 1/11
17-62206299-T-C ERN1 c.54+1037A>G - IntronicSNV - 1/21
6-147595554-G-A STXBP5 c.715-3663G>A - IntronicSNV - 7/27
16-1129010-C-A SSTR5 c.142C>A p.Leu48Met Missense 1/1 -
3-11378069-G-A ATG7 c.889+3502G>A - IntronicSNV - 9/18
2-111890432-G-A BCL2L11 c.124+8986G>A - IntronicSNV - 2/3