PMID: 29048744

Comorbidity of Alcohol Use Disorder and Chronic Pain: Genetic Influences on Brain Reward and Stress Systems.

Alcoholism, clinical and experimental research
EW Yeung, JG Craggs, IR Gizer
2017-11

407 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55646006-C-T USP24 c.325-2201G>A - IntronicSNV - 1/67
6-96506785-T-C FUT9 c.-98+42697T>C - intron_variant - 1/2
16-7591507-G-A RBFOX1 c.330+23116G>A - IntronicSNV - 2/12
16-7591507-G-T RBFOX1 c.330+23116G>T - IntronicSNV - 2/12
7-78215346-C-T MAGI2 c.538+41090G>A - IntronicSNV - 3/21
1-150322591-T-C PRPF3 c.1905+897T>C - IntronicSNV - 15/15
1-150322591-T-G PRPF3 c.1905+897T>G - IntronicSNV - 15/15
7-147528731-A-G CNTNAP2 c.2099-71926A>G - IntronicSNV - 13/23
1-175130204-G-A KIAA0040 c.1-55C>T - 5-UTRSNV 4/4 -
2-113888793-A-T IL1RN c.327+59A>T - IntronicSNV - 5/5
19-50281537-T-C AP2A1 c.68-3477T>C - IntronicSNV - 1/23
6-32071893-C-T TNXB c.-9+5065G>A - intron_variant - 1/43
1-150277387-T-G MRPS21 c.84-3095T>G - IntronicSNV - 1/1
1-150277387-T-C MRPS21 c.84-3095T>C - IntronicSNV - 1/1
6-32411833-C-A HLA-DRA c.*146C>A - IntronicSNV - 4/4
10-132990485-A-G TCERG1L c.857-25337T>C - IntronicSNV - 4/11
6-32411833-C-T HLA-DRA c.*146C>T - IntronicSNV - 4/4
7-40404675-G-C SUGCT c.726+48221G>C - IntronicSNV - 9/14
6-31928799-T-C SKIV2L c.545-19T>C - IntronicSNV - 6/27
7-40404675-G-T SUGCT c.726+48221G>T - IntronicSNV - 9/14
1-175145610-T-G KIAA0040 c.-310+1137A>C - intron_variant - 2/3
1-150373362-A-T RPRD2 c.206-16710A>T - IntronicSNV - 1/10
6-96502001-T-C FUT9 c.-98+37913T>C - intron_variant - 1/2
1-150269545-T-A MRPS21 c.83+2676T>A - IntronicSNV - 1/1
1-150269545-T-G MRPS21 c.83+2676T>G - IntronicSNV - 1/1
6-32062687-G-A TNXB c.2358+166C>T - IntronicSNV - 4/43
2-23705389-G-A KLHL29 c.-46+6852G>A - intron_variant - 2/13
1-150352494-C-T RPRD2 c.205+15099C>T - IntronicSNV - 1/10
1-175152251-C-A KIAA0040 c.-383-5431G>T - intron_variant - 1/3
1-175152251-C-T KIAA0040 c.-383-5431G>A - intron_variant - 1/3
12-124896416-G-C NCOR2 c.1482+8087C>G - IntronicSNV - 15/48
1-175126423-A-G KIAA0040 c.*3427T>C - 3-UTRSNV 4/4 -
18-67279263-A-T DOK6 c.289+12529A>T - IntronicSNV - 3/7
18-67279263-A-G DOK6 c.289+12529A>G - IntronicSNV - 3/7
1-175160773-G-A KIAA0040 c.-384+1003C>T - intron_variant - 1/3
7-40429728-G-A SUGCT c.727-59158G>A - IntronicSNV - 9/14
1-150276429-G-A MRPS21 c.84-4053G>A - IntronicSNV - 1/1
1-150412474-C-T RPRD2 c.336-925C>T - IntronicSNV - 2/10
19-13345088-C-T CACNA1A c.5267+647G>A - IntronicSNV - 35/47
2-113887335-T-G IL1RN c.214+94T>G - IntronicSNV - 4/5
14-32966348-G-A AKAP6 c.325-38412G>A - IntronicSNV - 2/13
9-18718086-G-T ADAMTSL1 c.1877-3448G>T - IntronicSNV - 14/28
9-18718086-G-A ADAMTSL1 c.1877-3448G>A - IntronicSNV - 14/28
1-150278908-C-G MRPS21 c.84-1574C>G - IntronicSNV - 1/1
6-32177429-C-T NOTCH4 c.2865+1100G>A - IntronicSNV - 18/29
1-150303666-A-G PRPF3 c.424-1489A>G - IntronicSNV - 4/15
6-96512176-G-A FUT9 c.-98+48088G>A - intron_variant - 1/2
6-96501846-A-G FUT9 c.-98+37758A>G - intron_variant - 1/2
14-32966348-G-C AKAP6 c.325-38412G>C - IntronicSNV - 2/13
1-150268622-T-C MRPS21 c.83+1753T>C - IntronicSNV - 1/1
1-150278908-C-A MRPS21 c.84-1574C>A - IntronicSNV - 1/1
6-31928799-T-A SKIV2L c.545-19T>A - IntronicSNV - 6/27
15-61444486-A-G RORA c.166+76766T>C - IntronicSNV - 1/10
13-108480736-T-C FAM155A c.915+37294A>G - IntronicSNV - 1/2
13-108479201-T-C FAM155A c.915+38829A>G - IntronicSNV - 1/2
6-96512475-T-G FUT9 c.-98+48387T>G - intron_variant - 1/2
7-40406876-A-G SUGCT c.726+50422A>G - IntronicSNV - 9/14
6-96511689-G-A FUT9 c.-98+47601G>A - intron_variant - 1/2
18-67379720-T-C DOK6 c.599+13891T>C - IntronicSNV - 5/7
1-175156428-G-T KIAA0040 c.-384+5348C>A - intron_variant - 1/3
6-96519657-T-C FUT9 c.-97-42258T>C - intron_variant - 1/2
1-150352494-C-G RPRD2 c.205+15099C>G - IntronicSNV - 1/10
6-96508390-T-A FUT9 c.-98+44302T>A - intron_variant - 1/2
6-96514223-T-A FUT9 c.-97-47692T>A - intron_variant - 1/2
6-96514223-T-G FUT9 c.-97-47692T>G - intron_variant - 1/2
18-67144161-A-C DOK6 c.66+75615A>C - IntronicSNV - 1/7
8-3947325-T-C CSMD1 c.416-57704A>G - IntronicSNV - 3/69
1-150379858-G-A RPRD2 c.206-10214G>A - IntronicSNV - 1/10
1-150269932-C-A MRPS21 c.83+3063C>A - IntronicSNV - 1/1
1-150269932-C-T MRPS21 c.83+3063C>T - IntronicSNV - 1/1
6-96519657-T-A FUT9 c.-97-42258T>A - intron_variant - 1/2
12-129762193-T-C TMEM132D c.1299+59986A>G - IntronicSNV - 4/8
1-150319884-G-A PRPF3 c.1843+917G>A - IntronicSNV - 14/15
1-175159044-C-G KIAA0040 c.-384+2732G>C - intron_variant - 1/3
1-150276650-A-G MRPS21 c.84-3832A>G - IntronicSNV - 1/1
1-150276650-A-C MRPS21 c.84-3832A>C - IntronicSNV - 1/1
7-148004202-G-A CNTNAP2 c.3475+39984G>A - IntronicSNV - 21/23
7-148004202-G-C CNTNAP2 c.3475+39984G>C - IntronicSNV - 21/23
9-14778244-T-G FREM1 c.4443-2043A>C - IntronicSNV - 25/37
10-92559908-G-T HTR7 c.540-50557C>A - IntronicSNV - 1/2
1-150320847-C-T PRPF3 c.1844-786C>T - IntronicSNV - 14/15
1-3099138-G-C PRDM16 c.38-3551G>C - IntronicSNV - 1/16
7-40832144-C-T SUGCT c.1141+43048C>T - IntronicSNV - 14/14
1-150439877-A-T RPRD2 c.1612+2674A>T - IntronicSNV - 10/10
9-18602403-T-C ADAMTSL1 c.475-19838T>C - IntronicSNV - 4/28
1-31901035-C-A SERINC2 c.793-790C>A - IntronicSNV - 6/9
11-117662909-C-A DSCAML1 c.46+4840G>T - intron_variant - 1/32
1-150270026-T-A MRPS21 c.83+3157T>A - IntronicSNV - 1/1
1-150369337-G-A RPRD2 c.206-20735G>A - IntronicSNV - 1/10
13-108478468-T-TT FAM155A c.915+39562_915+39562dup - IntronicInsertion - 1/2
19-13345088-C-G CACNA1A c.5267+647G>C - IntronicSNV - 35/47
1-55553554-T-G USP24 c.6668+1746A>C - IntronicSNV - 55/67
1-55553554-T-C USP24 c.6668+1746A>G - IntronicSNV - 55/67
7-148009607-A-G CNTNAP2 c.3475+45389A>G - IntronicSNV - 21/23
8-3606585-A-G CSMD1 c.931+4867T>C - IntronicSNV - 6/69
1-150411912-T-C RPRD2 c.336-1487T>C - IntronicSNV - 2/10
1-150269437-G-T MRPS21 c.83+2568G>T - IntronicSNV - 1/1
1-3081241-C-T PRDM16 c.38-21448C>T - IntronicSNV - 1/16
6-96511352-G-A FUT9 c.-98+47264G>A - intron_variant - 1/2
1-3086464-G-A PRDM16 c.38-16225G>A - IntronicSNV - 1/16
7-81901246-T-TT CACNA2D1 c.294+63206_294+63206dup - IntronicInsertion - 3/38
7-69806023-T-A AUTS2 c.661-94715T>A - IntronicSNV - 4/17
6-96511945-C-T FUT9 c.-98+47857C>T - intron_variant - 1/2
6-32033007-G-A TNXB c.6545-113C>T - IntronicSNV - 18/43
1-3072482-T-A PRDM16 c.38-30207T>A - IntronicSNV - 1/16
12-124896416-G-T NCOR2 c.1482+8087C>A - IntronicSNV - 15/48
1-150406110-T-C RPRD2 c.336-7289T>C - IntronicSNV - 2/10
1-31898463-C-T SERINC2 c.485-160C>T - IntronicSNV - 4/9
6-32006762-G-T CYP21A2 c.293-109G>T - IntronicSNV - 2/9
9-136148000-A-G ABO c.28+2578T>C - IntronicSNV - 1/7
1-175155207-T-G KIAA0040 c.-384+6569A>C - intron_variant - 1/3
7-40418721-G-A SUGCT c.726+62267G>A - IntronicSNV - 9/14
6-96511918-T-G FUT9 c.-98+47830T>G - intron_variant - 1/2
1-150269952-A-G MRPS21 c.83+3083A>G - IntronicSNV - 1/1
20-17338509-G-A PCSK2 c.283-463G>A - IntronicSNV - 2/11
11-113283477-A-G DRD2 c.939T>C p.His313His Synonymous 7/8 -
6-96512235-A-C FUT9 c.-98+48147A>C - intron_variant - 1/2
1-150392909-G-A RPRD2 c.335+2708G>A - IntronicSNV - 2/10
1-150269952-A-C MRPS21 c.83+3083A>C - IntronicSNV - 1/1
13-108494979-A-C FAM155A c.915+23051T>G - IntronicSNV - 1/2
1-150306125-T-C PRPF3 c.728+455T>C - IntronicSNV - 6/15
12-124877610-A-C NCOR2 c.1876+5055T>G - IntronicSNV - 18/48
1-150314272-T-G PRPF3 c.1282+1319T>G - IntronicSNV - 9/15
6-32069806-G-C TNXB c.1-3831C>G - IntronicSNV - 1/43
1-3095126-C-G PRDM16 c.38-7563C>G - IntronicSNV - 1/16
6-32071017-C-G TNXB c.1-5042G>C - IntronicSNV - 1/43
1-3095126-C-A PRDM16 c.38-7563C>A - IntronicSNV - 1/16
6-32071017-C-T TNXB c.1-5042G>A - IntronicSNV - 1/43
6-32071017-C-A TNXB c.1-5042G>T - IntronicSNV - 1/43
4-103855668-G-A SLC9B1 c.654-2212C>T - IntronicSNV - 6/11
6-32177900-T-C NOTCH4 c.2865+629A>G - IntronicSNV - 18/29
10-121030668-C-T GRK5 c.53-55360C>T - IntronicSNV - 1/15
6-96512475-T-C FUT9 c.-98+48387T>C - intron_variant - 1/2
7-148001001-G-T CNTNAP2 c.3475+36783G>T - IntronicSNV - 21/23
9-14775853-A-G FREM1 c.4791T>C p.Asp1597Asp Synonymous 26/38 -
9-14775853-A-C FREM1 c.4791T>G p.Asp1597Glu Missense 26/38 -
10-121030668-C-G GRK5 c.53-55360C>G - IntronicSNV - 1/15
10-121030668-C-A GRK5 c.53-55360C>A - IntronicSNV - 1/15
1-3083712-T-C PRDM16 c.38-18977T>C - IntronicSNV - 1/16
1-3083712-T-A PRDM16 c.38-18977T>A - IntronicSNV - 1/16
11-105758104-G-A GRIA4 c.673-141G>A - IntronicSNV - 5/16
12-124932244-C-T NCOR2 c.815+2117G>A - IntronicSNV - 9/48
6-32006762-G-A CYP21A2 c.293-109G>A - IntronicSNV - 2/9
1-150342642-T-C RPRD2 c.205+5247T>C - IntronicSNV - 1/10
6-32006762-G-C CYP21A2 c.293-109G>C - IntronicSNV - 2/9
19-13320274-G-T CACNA1A c.6396C>A p.Ser2132Ser Synonymous 46/48 -
1-3096925-T-A PRDM16 c.38-5764T>A - IntronicSNV - 1/16
13-107878591-G-A FAM155A c.916-15488C>T - IntronicSNV - 1/2
10-121150893-A-G GRK5 c.262-5314A>G - IntronicSNV - 3/15
14-33186257-C-T AKAP6 c.3001-15403C>T - IntronicSNV - 9/13
1-150303666-A-C PRPF3 c.424-1489A>C - IntronicSNV - 4/15
6-31929014-A-C SKIV2L c.640A>C p.Met214Leu Missense 8/28 -
1-173878471-A-G SERPINC1 c.1153+219T>C - IntronicSNV - 5/6
7-148003645-C-G CNTNAP2 c.3475+39427C>G - IntronicSNV - 21/23
7-40394987-T-C SUGCT c.726+38533T>C - IntronicSNV - 9/14
1-150320571-C-T PRPF3 c.1844-1062C>T - IntronicSNV - 14/15
1-4755721-C-T AJAP1 c.30-16239C>T - IntronicSNV - 1/5
1-31898132-T-C SERINC2 c.405-45T>C - IntronicSNV - 3/9
13-108482255-G-T FAM155A c.915+35775C>A - IntronicSNV - 1/2
16-82721424-A-G CDH13 c.45+60682A>G - IntronicSNV - 1/13
1-150270025-A-G MRPS21 c.83+3156A>G - IntronicSNV - 1/1
1-150280801-G-C MRPS21 c.*139G>C - 3-UTRSNV 2/2 -
1-150280801-G-A MRPS21 c.*139G>A - 3-UTRSNV 2/2 -
12-129722961-T-C TMEM132D c.1300-28753A>G - IntronicSNV - 4/8
7-40410924-T-C SUGCT c.726+54470T>C - IntronicSNV - 9/14
12-124877610-A-G NCOR2 c.1876+5055T>C - IntronicSNV - 18/48
1-31898536-C-T SERINC2 c.485-87C>T - IntronicSNV - 4/9
1-150271080-G-A MRPS21 c.83+4211G>A - IntronicSNV - 1/1
1-150276461-G-A MRPS21 c.84-4021G>A - IntronicSNV - 1/1
1-175156428-G-C KIAA0040 c.-384+5348C>G - intron_variant - 1/3
1-3070634-C-T PRDM16 c.38-32055C>T - IntronicSNV - 1/16
9-136139265-C-T ABO c.29-1694G>A - IntronicSNV - 1/7
1-150320717-G-A PRPF3 c.1844-916G>A - IntronicSNV - 14/15
1-150320717-G-C PRPF3 c.1844-916G>C - IntronicSNV - 14/15
2-113890304-T-A IL1RN c.399T>A p.Ser133Arg Missense 6/6 -
2-113890304-T-C IL1RN c.399T>C p.Ser133Ser Synonymous 6/6 -
10-121026712-A-G GRK5 c.52+59231A>G - IntronicSNV - 1/15
12-124930127-C-G NCOR2 c.815+4234G>C - IntronicSNV - 9/48
8-3804109-C-G CSMD1 c.818+51316G>C - IntronicSNV - 5/69
1-150392909-G-C RPRD2 c.335+2708G>C - IntronicSNV - 2/10
1-3066761-A-T PRDM16 c.38-35928A>T - IntronicSNV - 1/16
15-61231966-T-C RORA c.167-261081A>G - IntronicSNV - 1/10
20-17319069-T-C PCSK2 c.283-19903T>C - IntronicSNV - 2/11
1-168255020-A-G TBX19 c.203+4489A>G - IntronicSNV - 1/7
1-150269437-G-A MRPS21 c.83+2568G>A - IntronicSNV - 1/1
7-78078610-A-C MAGI2 c.1045+40468T>G - IntronicSNV - 6/21
1-3084877-T-C PRDM16 c.38-17812T>C - IntronicSNV - 1/16
6-96512851-C-T FUT9 c.-98+48763C>T - intron_variant - 1/2
1-150349902-G-A RPRD2 c.205+12507G>A - IntronicSNV - 1/10
7-40431370-A-G SUGCT c.727-57516A>G - IntronicSNV - 9/14
1-150376977-C-T RPRD2 c.206-13095C>T - IntronicSNV - 1/10
1-150314272-T-C PRPF3 c.1282+1319T>C - IntronicSNV - 9/15
1-150311042-G-T PRPF3 c.1202+240G>T - IntronicSNV - 8/15
2-23704612-G-C KLHL29 c.-46+6075G>C - intron_variant - 2/13
7-40417925-A-T SUGCT c.726+61471A>T - IntronicSNV - 9/14
7-40417925-A-G SUGCT c.726+61471A>G - IntronicSNV - 9/14
1-162224550-T-C NOS1AP c.178-32584T>C - IntronicSNV - 2/9
7-40427617-T-C SUGCT c.727-61269T>C - IntronicSNV - 9/14
1-150308136-A-C PRPF3 c.1035+424A>C - IntronicSNV - 7/15
1-150308136-A-G PRPF3 c.1035+424A>G - IntronicSNV - 7/15
10-121031659-C-T GRK5 c.53-54369C>T - IntronicSNV - 1/15
8-26608542-T-C ADRA1A c.1270-2277A>G - IntronicSNV - 2/2
20-17320570-G-A PCSK2 c.283-18402G>A - IntronicSNV - 2/11
1-3099105-T-C PRDM16 c.38-3584T>C - IntronicSNV - 1/16
19-50271502-T-G AP2A1 c.67+1045T>G - IntronicSNV - 1/23
19-50271502-T-C AP2A1 c.67+1045T>C - IntronicSNV - 1/23
18-67402858-G-A DOK6 c.600-3343G>A - IntronicSNV - 5/7
1-150307270-T-G PRPF3 c.729-136T>G - IntronicSNV - 6/15
1-3081997-T-G PRDM16 c.38-20692T>G - IntronicSNV - 1/16
18-67289462-G-T DOK6 c.289+22728G>T - IntronicSNV - 3/7
8-26609661-A-G ADRA1A c.1270-3396T>C - IntronicSNV - 2/2
1-150442466-G-A RPRD2 c.1613-571G>A - IntronicSNV - 10/10
8-3330914-G-A CSMD1 c.1449-4568C>T - IntronicSNV - 11/69
4-103896728-T-A SLC9B1 c.211+14229A>T - IntronicSNV - 3/11
4-103896728-T-C SLC9B1 c.211+14229A>G - IntronicSNV - 3/11
1-150406110-T-A RPRD2 c.336-7289T>A - IntronicSNV - 2/10
1-150305863-C-A PRPF3 c.728+193C>A - IntronicSNV - 6/15
6-32164869-G-C NOTCH4 c.5053-20C>G - IntronicSNV - 27/29
6-96517092-C-G FUT9 c.-97-44823C>G - intron_variant - 1/2
16-83308447-A-G CDH13 c.636+57345A>G - IntronicSNV - 5/13
16-83308447-A-T CDH13 c.636+57345A>T - IntronicSNV - 5/13
1-150442612-A-G RPRD2 c.1613-425A>G - IntronicSNV - 10/10
1-3094672-A-G PRDM16 c.38-8017A>G - IntronicSNV - 1/16
18-67376344-G-A DOK6 c.599+10515G>A - IntronicSNV - 5/7
11-117357140-A-G DSCAML1 c.2360-4263T>C - intron_variant - 11/32
7-40861829-T-C SUGCT c.1142-38086T>C - IntronicSNV - 14/14
7-40430792-G-T SUGCT c.727-58094G>T - IntronicSNV - 9/14
1-150279876-T-G MRPS21 c.84-606T>G - IntronicSNV - 1/1
7-40430792-G-A SUGCT c.727-58094G>A - IntronicSNV - 9/14
7-40430792-G-C SUGCT c.727-58094G>C - IntronicSNV - 9/14
13-107914558-T-A FAM155A c.916-51455A>T - IntronicSNV - 1/2
6-32164874-C-T NOTCH4 c.5053-25G>A - IntronicSNV - 27/29
1-150279876-T-C MRPS21 c.84-606T>C - IntronicSNV - 1/1
1-175161849-G-T KIAA0040 c.-457C>A - 5_prime_UTR_variant 1/4 -
7-40404052-C-A SUGCT c.726+47598C>A - IntronicSNV - 9/14
1-175145610-T-A KIAA0040 c.-310+1137A>T - intron_variant - 2/3
19-13339128-G-A CACNA1A c.5547-787C>T - IntronicSNV - 37/47
19-13356380-T-C CACNA1A c.4879-301A>G - IntronicSNV - 30/47
7-40851735-T-C SUGCT c.1142-48180T>C - IntronicSNV - 14/14
19-13320274-G-A CACNA1A c.6396C>T p.Ser2132Ser Synonymous 46/48 -
1-175159778-A-G KIAA0040 c.-384+1998T>C - intron_variant - 1/3
7-40402053-C-T SUGCT c.726+45599C>T - IntronicSNV - 9/14
10-132984669-A-T TCERG1L c.857-19521T>A - IntronicSNV - 4/11
10-132984669-A-G TCERG1L c.857-19521T>C - IntronicSNV - 4/11
1-150316385-G-A PRPF3 c.1427-253G>A - IntronicSNV - 10/15
9-14778244-T-A FREM1 c.4443-2043A>T - IntronicSNV - 25/37
1-150390524-G-A RPRD2 c.335+323G>A - IntronicSNV - 2/10
1-150390524-G-C RPRD2 c.335+323G>C - IntronicSNV - 2/10
1-3093302-A-C PRDM16 c.38-9387A>C - IntronicSNV - 1/16
1-150270209-A-G MRPS21 c.83+3340A>G - IntronicSNV - 1/1
1-3093302-A-G PRDM16 c.38-9387A>G - IntronicSNV - 1/16
12-124929906-G-A NCOR2 c.815+4455C>T - IntronicSNV - 9/48
8-3329509-A-G CSMD1 c.1449-3163T>C - IntronicSNV - 11/69
7-40851242-G-A SUGCT c.1142-48673G>A - IntronicSNV - 14/14
7-40851242-G-T SUGCT c.1142-48673G>T - IntronicSNV - 14/14
12-130224189-A-C TMEM132D c.80-38946T>G - IntronicSNV - 1/8
19-13351393-T-G CACNA1A c.4968+942A>C - IntronicSNV - 32/47
2-68274097-T-C C1D c.138+208A>G - IntronicSNV - 2/4
1-150269932-C-G MRPS21 c.83+3063C>G - IntronicSNV - 1/1
16-7591701-T-A RBFOX1 c.330+23310T>A - IntronicSNV - 2/12
1-175160334-T-C KIAA0040 c.-384+1442A>G - intron_variant - 1/3
16-82721424-A-C CDH13 c.45+60682A>C - IntronicSNV - 1/13
9-71437342-T-C PIP5K1B c.1-189T>C - IntronicSNV - 1/15
10-121028387-C-T GRK5 c.53-57641C>T - IntronicSNV - 1/15
6-32165583-G-A NOTCH4 c.4757-212C>T - IntronicSNV - 26/29
8-26608263-C-G ADRA1A c.1270-1998G>C - IntronicSNV - 2/2
12-124915091-T-C NCOR2 c.1055+70A>G - IntronicSNV - 11/48
6-32165583-G-C NOTCH4 c.4757-212C>G - IntronicSNV - 26/29
1-3097051-C-T PRDM16 c.38-5638C>T - IntronicSNV - 1/16
7-40862763-T-C SUGCT c.1142-37152T>C - IntronicSNV - 14/14
7-40421682-G-A SUGCT c.726+65228G>A - IntronicSNV - 9/14
12-130224189-A-G TMEM132D c.80-38946T>C - IntronicSNV - 1/8
19-13355633-T-C CACNA1A c.4962+363A>G - IntronicSNV - 31/47
7-148035192-A-G CNTNAP2 c.3476-45549A>G - IntronicSNV - 21/23
1-175153502-G-T KIAA0040 c.-383-6682C>A - intron_variant - 1/3
19-13350813-G-A CACNA1A c.4968+1522C>T - IntronicSNV - 32/47
2-171243601-C-G MYO3B c.1375-15C>G - IntronicSNV - 13/33
1-150270026-T-C MRPS21 c.83+3157T>C - IntronicSNV - 1/1
2-171078637-G-A MYO3B c.603+4732G>A - IntronicSNV - 6/33
1-3085186-C-T PRDM16 c.38-17503C>T - IntronicSNV - 1/16
6-96508419-C-T FUT9 c.-98+44331C>T - intron_variant - 1/2
13-108502790-A-G FAM155A c.915+15240T>C - IntronicSNV - 1/2
9-18835570-C-G ADAMTSL1 c.4249+5595C>G - IntronicSNV - 23/28
1-150298750-A-G PRPF3 c.276+411A>G - IntronicSNV - 3/15
7-148010626-G-C CNTNAP2 c.3475+46408G>C - IntronicSNV - 21/23
1-150303269-G-T PRPF3 c.424-1886G>T - IntronicSNV - 4/15
13-107882985-A-G FAM155A c.916-19882T>C - IntronicSNV - 1/2
1-150404708-A-G RPRD2 c.336-8691A>G - IntronicSNV - 2/10
12-124820705-A-C NCOR2 c.6116-527T>G - IntronicSNV - 40/48
1-150339290-C-A RPRD2 c.205+1895C>A - IntronicSNV - 1/10
12-124820705-A-G NCOR2 c.6116-527T>C - IntronicSNV - 40/48
1-150273579-G-A MRPS21 c.83+6710G>A - IntronicSNV - 1/1
1-150300727-T-C PRPF3 c.277-52T>C - IntronicSNV - 3/15
6-96511945-C-G FUT9 c.-98+47857C>G - intron_variant - 1/2
6-31927342-A-T SKIV2L c.126+165A>T - IntronicSNV - 2/27
1-150268461-G-A MRPS21 c.83+1592G>A - IntronicSNV - 1/1
2-68284442-T-C C1D c.-10+5635A>G - intron_variant - 1/4
7-40427634-T-C SUGCT c.727-61252T>C - IntronicSNV - 9/14
12-129722628-T-G TMEM132D c.1300-28420A>C - IntronicSNV - 4/8
7-40477363-A-C SUGCT c.727-11523A>C - IntronicSNV - 9/14
7-40477363-A-G SUGCT c.727-11523A>G - IntronicSNV - 9/14
6-32177625-C-A NOTCH4 c.2865+904G>T - IntronicSNV - 18/29
18-67371863-C-T DOK6 c.599+6034C>T - IntronicSNV - 5/7
1-150415990-G-C RPRD2 c.567+231G>C - IntronicSNV - 5/10
8-3328316-G-C CSMD1 c.1449-1970C>G - IntronicSNV - 11/69
2-68279043-T-G C1D c.1-4601A>C - IntronicSNV - 1/4
8-3328316-G-T CSMD1 c.1449-1970C>A - IntronicSNV - 11/69
2-68279043-T-C C1D c.1-4601A>G - IntronicSNV - 1/4
8-3329606-G-A CSMD1 c.1449-3260C>T - IntronicSNV - 11/69
1-31898234-T-C SERINC2 c.462T>C p.Ile154Ile Synonymous 4/10 -
20-17316461-G-A PCSK2 c.283-22511G>A - IntronicSNV - 2/11
8-3329606-G-T CSMD1 c.1449-3260C>A - IntronicSNV - 11/69
6-96516570-C-T FUT9 c.-97-45345C>T - intron_variant - 1/2
11-105773462-G-A GRIA4 c.886-1078G>A - IntronicSNV - 7/16
6-96516570-C-A FUT9 c.-97-45345C>A - intron_variant - 1/2
6-96516570-C-G FUT9 c.-97-45345C>G - intron_variant - 1/2
11-105737020-T-G GRIA4 c.672+4086T>G - IntronicSNV - 5/16
6-32408044-A-C HLA-DRA c.82+235A>C - IntronicSNV - 1/4
8-3947325-T-G CSMD1 c.416-57704A>C - IntronicSNV - 3/69
6-96511857-T-C FUT9 c.-98+47769T>C - intron_variant - 1/2
1-150266338-T-A MRPS21 c.1-449T>A - 5-UTRSNV 1/2 -
6-96511857-T-G FUT9 c.-98+47769T>G - intron_variant - 1/2
1-175143207-T-C KIAA0040 c.-310+3540A>G - intron_variant - 2/3
7-40827651-C-A SUGCT c.1141+38555C>A - IntronicSNV - 14/14
6-32164874-C-A NOTCH4 c.5053-25G>T - IntronicSNV - 27/29
1-3065568-C-T PRDM16 c.38-37121C>T - IntronicSNV - 1/16
7-40836521-G-T SUGCT c.1141+47425G>T - IntronicSNV - 14/14
7-40836521-G-C SUGCT c.1141+47425G>C - IntronicSNV - 14/14
1-3000441-A-G PRDM16 c.37+14581A>G - IntronicSNV - 1/16
7-40399193-A-C SUGCT c.726+42739A>C - IntronicSNV - 9/14
12-129759733-G-A TMEM132D c.1299+62446C>T - IntronicSNV - 4/8
7-40399193-A-G SUGCT c.726+42739A>G - IntronicSNV - 9/14
1-3070634-C-G PRDM16 c.38-32055C>G - IntronicSNV - 1/16
1-150274610-G-A MRPS21 c.84-5872G>A - IntronicSNV - 1/1
18-67396403-A-G DOK6 c.600-9798A>G - IntronicSNV - 5/7
1-150298750-A-T PRPF3 c.276+411A>T - IntronicSNV - 3/15
1-3084229-T-C PRDM16 c.38-18460T>C - IntronicSNV - 1/16
1-175156464-C-T KIAA0040 c.-384+5312G>A - intron_variant - 1/3
1-173900918-T-C RC3H1 c.*6941A>G - 3-UTRSNV 20/20 -
13-108476193-G-A FAM155A c.915+41837C>T - IntronicSNV - 1/2
1-150303269-G-C PRPF3 c.424-1886G>C - IntronicSNV - 4/15
6-96605583-A-G FUT9 c.1-45449A>G - IntronicSNV - 1/2
7-148010626-G-T CNTNAP2 c.3475+46408G>T - IntronicSNV - 21/23
1-150323522-T-G PRPF3 c.1906-1787T>G - IntronicSNV - 15/15
1-150323522-T-C PRPF3 c.1906-1787T>C - IntronicSNV - 15/15
7-40432354-C-T SUGCT c.727-56532C>T - IntronicSNV - 9/14
7-40432354-C-A SUGCT c.727-56532C>A - IntronicSNV - 9/14
19-50294759-T-C AP2A1 c.474-433T>C - IntronicSNV - 4/23
11-117461602-C-T DSCAML1 c.512-58365G>A - intron_variant - 3/32
8-26628028-A-G ADRA1A c.1039T>C p.Cys347Arg Missense 2/3 -
13-108502280-T-C FAM155A c.915+15750A>G - IntronicSNV - 1/2
6-31900754-G-T C2 c.443-633G>T - IntronicSNV - 3/17
1-150379007-T-A RPRD2 c.206-11065T>A - IntronicSNV - 1/10
1-150379007-T-C RPRD2 c.206-11065T>C - IntronicSNV - 1/10
7-146427500-A-G CNTNAP2 c.98-43863A>G - IntronicSNV - 1/23
2-171440957-C-A MYO3B c.3652+40459C>A - IntronicSNV - 31/33
1-150307270-T-C PRPF3 c.729-136T>C - IntronicSNV - 6/15
6-31900754-G-A C2 c.443-633G>A - IntronicSNV - 3/17
6-31900754-G-C C2 c.443-633G>C - IntronicSNV - 3/17
9-136139265-C-A ABO c.29-1694G>T - IntronicSNV - 1/7
6-96506785-T-A FUT9 c.-98+42697T>A - intron_variant - 1/2
1-150303269-G-A PRPF3 c.424-1886G>A - IntronicSNV - 4/15
16-7591545-G-A RBFOX1 c.330+23154G>A - IntronicSNV - 2/12
9-14763025-G-C FREM1 c.5205-3126C>G - IntronicSNV - 28/37
10-121028390-G-T GRK5 c.53-57638G>T - IntronicSNV - 1/15
1-150439877-A-G RPRD2 c.1612+2674A>G - IntronicSNV - 10/10
7-40406876-A-C SUGCT c.726+50422A>C - IntronicSNV - 9/14
8-26607280-T-C ADRA1A c.1270-1015A>G - IntronicSNV - 2/2
1-175156585-G-C KIAA0040 c.-384+5191C>G - intron_variant - 1/3
1-175156585-G-A KIAA0040 c.-384+5191C>T - intron_variant - 1/3
8-3329848-G-T CSMD1 c.1449-3502C>A - IntronicSNV - 11/69
1-175160348-T-C KIAA0040 c.-384+1428A>G - intron_variant - 1/3
8-3329848-G-C CSMD1 c.1449-3502C>G - IntronicSNV - 11/69
8-3329848-G-A CSMD1 c.1449-3502C>T - IntronicSNV - 11/69
19-50281537-T-A AP2A1 c.68-3477T>A - IntronicSNV - 1/23
1-150405298-T-C RPRD2 c.336-8101T>C - IntronicSNV - 2/10
1-150319762-A-G PRPF3 c.1843+795A>G - IntronicSNV - 14/15
13-108486588-C-A FAM155A c.915+31442G>T - IntronicSNV - 1/2
7-40406876-A-T SUGCT c.726+50422A>T - IntronicSNV - 9/14
6-32177614-T-C NOTCH4 c.2865+915A>G - IntronicSNV - 18/29
6-32177614-T-A NOTCH4 c.2865+915A>T - IntronicSNV - 18/29
1-150319762-A-T PRPF3 c.1843+795A>T - IntronicSNV - 14/15
1-175131961-G-T KIAA0040 c.1-1812C>A - IntronicSNV - 2/3
1-150405882-T-C RPRD2 c.336-7517T>C - IntronicSNV - 2/10
1-175145019-A-G KIAA0040 c.-310+1728T>C - intron_variant - 2/3
7-40404052-C-T SUGCT c.726+47598C>T - IntronicSNV - 9/14
8-3330914-G-C CSMD1 c.1449-4568C>G - IntronicSNV - 11/69
1-150321066-T-G PRPF3 c.1844-567T>G - IntronicSNV - 14/15
6-31912523-T-C C2 c.1922T>C p.Val641Ala Missense 16/18 -
7-40420360-G-C SUGCT c.726+63906G>C - IntronicSNV - 9/14
1-175151950-T-C KIAA0040 c.-383-5130A>G - intron_variant - 1/3
6-152157881-C-T ESR1 c.453-5851C>T - IntronicSNV - 1/7
6-96595020-C-T FUT9 c.-9+33017C>T - intron_variant - 2/2
8-3328265-T-C CSMD1 c.1449-1919A>G - IntronicSNV - 11/69
1-31901035-C-T SERINC2 c.793-790C>T - IntronicSNV - 6/9
6-31927342-A-G SKIV2L c.126+165A>G - IntronicSNV - 2/27
9-18835570-C-T ADAMTSL1 c.4249+5595C>T - IntronicSNV - 23/28
9-71562055-T-C PIP5K1B c.1502+6349T>C - IntronicSNV - 14/15
1-150304150-T-A PRPF3 c.424-1005T>A - IntronicSNV - 4/15
1-3075597-A-G PRDM16 c.38-27092A>G - IntronicSNV - 1/16
1-3091587-C-T PRDM16 c.38-11102C>T - IntronicSNV - 1/16
1-175132371-G-T KIAA0040 c.1-2222C>A - IntronicSNV - 3/3
13-108130047-A-T FAM155A c.916-266944T>A - IntronicSNV - 1/2
1-150268461-G-C MRPS21 c.83+1592G>C - IntronicSNV - 1/1
1-162104081-G-C NOS1AP c.106-20114G>C - IntronicSNV - 1/9
13-108501885-C-G FAM155A c.915+16145G>C - IntronicSNV - 1/2
1-175153843-C-T KIAA0040 c.-383-7023G>A - intron_variant - 1/3