PMID: 24223755

Comprehensive analysis of single nucleotide polymorphisms in human microRNAs.

PloS one
M Han, Y Zheng
2013

987 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-28855297-T-C TUFM c.1048A>G p.Lys350Glu Missense 8/10 -
1-33798091-A-G PHC2 c.1759-86T>C - IntronicSNV - 9/13
2-32860335-C-T TTC27 c.396+1263C>T - IntronicSNV - 3/19
11-113320747-G-C DRD2 c.-32+25051C>G - intron_variant - 1/7
19-10514159-G-C CDC37 c.1-4C>G - 5-UTRSNV 1/8 -
19-4932737-C-T UHRF1 c.570-16C>T - IntronicSNV - 4/17
10-35930124-G-T FZD8 c.234C>A p.Ile78Ile Synonymous 1/1 -
11-9111905-G-A SCUBE2 c.134-529C>T - IntronicSNV - 1/21
11-9111905-G-C SCUBE2 c.134-529C>G - IntronicSNV - 1/21
11-61560026-A-T TMEM258 c.3+2T>A - IntronicSNV - 1/3
11-61560026-A-C TMEM258 c.3+2T>G - IntronicSNV - 1/3
7-102046217-A-G PRKRIP1 c.392+1087A>G - IntronicSNV - 4/5
2-208619555-G-A CCNYL1 c.*1133G>A - 3-UTRSNV 11/11 -
11-34963416-T-C PDHX c.242-5637T>C - IntronicSNV - 2/10
12-128778703-G-A TMEM132C c.85+26671G>A - IntronicSNV - 1/8
4-113569088-A-G LARP7 c.1142+98A>G - IntronicSNV - 8/12
5-92956409-G-A FAM172A c.*284C>T - 3-UTRSNV 11/11 -
1-234442257-A-T SLC35F3 c.609-2590A>T - IntronicSNV - 3/7
13-41384997-C-G SLC25A15 c.*1194C>G - 3-UTRSNV 7/7 -
2-54076332-T-C GPR75-ASB3 c.101+10633A>G - IntronicSNV - 1/9
11-10529848-C-T MTRNR2L8 c.1-75G>A - 5-UTRSNV 1/1 -
20-62551278-G-A DNAJC5 c.1-8421G>A - IntronicSNV - 1/4
4-102251501-T-C PPP3CA c.58+16395A>G - IntronicSNV - 1/13
7-1062574-G-C C7orf50 c.130-12795C>G - IntronicSNV - 2/4
1-154948201-G-T CKS1B c.59+921G>T - IntronicSNV - 1/2
5-132763351-A-T FSTL4 c.161-26673T>A - IntronicSNV - 3/15
7-102106234-G-A LRWD1 c.81-30G>A - IntronicSNV - 1/14
19-2234093-C-T PLEKHJ1 c.321-33G>A - IntronicSNV - 4/5
18-47652874-T-C MYO5B c.27+68263A>G - IntronicSNV - 1/39
9-114694395-G-C UGCG c.825-55G>C - IntronicSNV - 7/8
9-114694395-G-A UGCG c.825-55G>A - IntronicSNV - 7/8
1-10287824-C-T KIF1B c.1-4563C>T - IntronicSNV - 1/46
3-194855248-C-T XXYLT1 c.785+21930G>A - IntronicSNV - 3/3
9-20716104-T-A FOCAD c.57+695T>A - IntronicSNV - 4/45
9-20716104-T-C FOCAD c.57+695T>C - IntronicSNV - 4/45
11-10529848-C-A MTRNR2L8 c.1-75G>T - 5-UTRSNV 1/1 -
3-123851818-G-A KALRN c.67+38067G>A - IntronicSNV - 1/33
3-49311587-G-A C3orf62 c.447-14C>T - IntronicSNV - 1/2
7-102111923-G-A LRWD1 c.1443-742G>A - IntronicSNV - 11/14
10-12172800-G-A SEC61A2 c.7+1007G>A - IntronicSNV - 1/11
1-236016301-C-A LYST c.-98+13842G>T - intron_variant - 1/52
10-12172800-G-T SEC61A2 c.7+1007G>T - IntronicSNV - 1/11
5-118490368-G-A DMXL1 c.4702+2637G>A - IntronicSNV - 19/42
1-236016301-C-T LYST c.-98+13842G>A - intron_variant - 1/52
1-236016301-C-G LYST c.-98+13842G>C - intron_variant - 1/52
18-46196971-G-C CTIF c.432-69G>C - IntronicSNV - 5/11
7-43190561-G-A HECW1 c.-32+36571G>A - intron_variant - 2/29
2-189162305-G-T GULP1 c.-172+5412G>T - intron_variant - 1/11
16-593277-T-G CAPN15 c.1-3562T>G - IntronicSNV - 3/13
10-100155013-G-A PYROXD2 c.725C>T p.Ala242Val Missense 8/16 -
11-1880710-T-C LSP1 c.53+6283T>C - IntronicSNV - 1/10
11-94199711-G-A MRE11 c.1098+1268C>T - IntronicSNV - 10/19
2-176032384-T-C ATF2 c.-143+394A>G - intron_variant - 1/13
5-118490354-G-A DMXL1 c.4702+2623G>A - IntronicSNV - 19/42
11-67801447-C-T NDUFS8 c.372+697C>T - IntronicSNV - 5/6
20-61162208-A-G MIR1-1HG c.21A>G p.Ala7Ala Synonymous 3/4 -
3-197020786-A-AA DLG1 c.151+2436_151+2436dup - IntronicInsertion - 3/25
17-15154966-T-C PMP22 c.178+7445A>G - IntronicSNV - 3/4
14-23426182-C-A HAUS4 c.-80G>T - 5_prime_UTR_variant 1/10 -
3-75787458-G-A ZNF717 c.1316C>T p.Thr439Ile Missense 5/5 -
6-119390263-G-C FAM184A c.159+9043C>G - IntronicSNV - 1/17
20-18451300-T-C POLR3F c.180+1595T>C - IntronicSNV - 2/8
1-220291206-C-A IARS2 c.1640+3390C>A - IntronicSNV - 12/22
19-14640449-G-T TECR c.1-60G>T - 5-UTRSNV 1/13 -
11-126858406-A-C KIRREL3 c.55+11945T>G - IntronicSNV - 1/16
19-14640449-G-A TECR c.1-60G>A - 5-UTRSNV 1/13 -
5-153726769-A-G GALNT10 c.568+17471A>G - IntronicSNV - 4/11
1-150524468-G-A ADAMTSL4 c.1-297G>A - IntronicSNV - 2/18
20-62551199-T-C DNAJC5 c.1-8500T>C - IntronicSNV - 1/4
5-168690697-C-T SLIT3 c.198-12234G>A - IntronicSNV - 1/35
2-189162257-A-G GULP1 c.-172+5364A>G - intron_variant - 1/11
1-231155616-G-A FAM89A c.548C>T p.Ser183Phe Missense 2/2 -
8-145619365-G-A CPSF1 c.3822C>T p.Arg1274Arg Synonymous 34/38 -
5-71465361-T-A MAP1B c.287-14209T>A - IntronicSNV - 2/6
8-14710983-T-C SGCZ c.40-298548A>G - IntronicSNV - 1/7
2-132248776-C-T MZT2A c.319+673G>A - IntronicSNV - 2/2
17-72744823-G-C SLC9A3R1 c.1-163G>C - 5-UTRSNV 1/6 -
20-62550871-C-T DNAJC5 c.1-8828C>T - IntronicSNV - 1/4
10-98901444-G-A SLIT1 c.413+16131C>T - IntronicSNV - 4/36
13-41384940-G-A SLC25A15 c.*1137G>A - 3-UTRSNV 7/7 -
X-69242707-G-A EDA c.503-361G>A - IntronicSNV - 2/7
16-88535337-T-G ZFPM1 c.40+15251T>G - IntronicSNV - 1/9
8-117886982-C-G RAD21 c.-165G>C - 5_prime_UTR_variant 1/14 -
11-75046227-T-C ARRB1 c.20+16405A>G - IntronicSNV - 1/15
20-62550824-G-A DNAJC5 c.1-8875G>A - IntronicSNV - 1/4
17-12820646-G-C ARHGAP44 c.387+1318G>C - IntronicSNV - 5/20
7-100802786-A-G AP1S1 c.429+309A>G - IntronicSNV - 4/4
X-135633045-G-A VGLL1 c.688+65G>A - IntronicSNV - 4/4
17-58120456-A-G HEATR6 c.*468T>C - IntergenicSNV 20/20 -
3-111831684-A-C C3orf52 c.468-127A>C - IntronicSNV - 4/5
20-61870140-C-T BIRC7 c.577+174C>T - IntronicSNV - 4/6
20-52684971-A-T BCAS1 c.-6+2001T>A - intron_variant - 1/11
20-52684971-A-C BCAS1 c.-6+2001T>G - intron_variant - 1/11
11-126858406-A-G KIRREL3 c.55+11945T>C - IntronicSNV - 1/16
2-109757963-C-T SH3RF3 c.573+11394C>T - IntronicSNV - 1/9
2-240007616-G-C HDAC4 c.2429+1639C>G - IntronicSNV - 19/26
1-201777752-C-T NAV1 c.4038+14C>T - IntronicSNV - 19/29
11-94199721-G-A MRE11 c.1098+1258C>T - IntronicSNV - 10/19
11-94199721-G-T MRE11 c.1098+1258C>A - IntronicSNV - 10/19
1-23384355-G-A KDM1A c.1012+297G>A - IntronicSNV - 7/18
11-126858406-A-T KIRREL3 c.55+11945T>A - IntronicSNV - 1/16
8-117886991-T-C RAD21 c.-174A>G - 5_prime_UTR_variant 1/14 -
5-153726756-G-A GALNT10 c.568+17458G>A - IntronicSNV - 4/11
1-172113756-C-T DNM3 c.1659+13328C>T - IntronicSNV - 14/20
1-41220077-C-T NFYC c.387+1159C>T - IntronicSNV - 5/9
16-593362-G-A CAPN15 c.1-3477G>A - IntronicSNV - 3/13
10-100155011-T-C PYROXD2 c.727A>G p.Thr243Ala Missense 8/16 -
3-170824459-A-G TNIK c.2406+513T>C - IntronicSNV - 21/32
17-58120427-C-T HEATR6 c.*497G>A - IntergenicSNV 20/20 -
8-145619405-G-A CPSF1 c.3812-30C>T - IntronicSNV - 33/37
12-79813049-A-G SYT1 c.929-24804A>G - IntronicSNV - 9/10
5-36148057-T-G LMBRD2 c.-58+3601A>C - intron_variant - 1/17
10-98901472-C-T SLIT1 c.413+16103G>A - IntronicSNV - 4/36
3-189547735-T-C TP63 c.579+21420T>C - IntronicSNV - 4/13
11-64136130-G-A RPS6KA4 c.1335-46G>A - IntronicSNV - 11/16
11-19781608-T-C NAV2 c.267+46100T>C - IntronicSNV - 1/37
9-36864265-G-A PAX5 c.911-17339C>T - IntronicSNV - 7/8
1-65045574-C-T CACHD1 c.262-2265C>T - intron_variant - 2/26
20-60639883-T-C TAF4 c.984A>G p.Gln328Gln Synonymous 1/15 -
20-60639883-T-A TAF4 c.984A>T p.Gln328His Missense 1/15 -
8-41128599-G-A SFRP1 c.623-5591C>T - IntronicSNV - 2/2
19-10928119-A-G DNM2 c.1660-2537A>G - IntronicSNV - 14/19
2-132248776-C-G MZT2A c.319+673G>C - IntronicSNV - 2/2
16-2183130-G-A PKD1 c.215+2346C>T - IntronicSNV - 1/45
20-45795618-G-T EYA2 c.979-2169G>T - IntronicSNV - 10/15
4-174189331-G-A GALNT7 c.587+19740G>A - IntronicSNV - 2/11
7-1062656-C-T C7orf50 c.130-12877G>A - IntronicSNV - 2/4
15-31357238-C-G TRPM1 c.724+1041G>C - IntronicSNV - 6/26
5-36148057-T-C LMBRD2 c.-58+3601A>G - intron_variant - 1/17
8-92217762-G-T LRRC69 c.933+4742G>T - IntronicSNV - 7/7
1-6489910-T-C ESPN c.488+1431T>C - IntronicSNV - 2/12
11-94199710-C-T MRE11 c.1098+1269G>A - IntronicSNV - 10/19
16-28969966-T-A NFATC2IP c.847-72T>A - IntronicSNV - 5/7
11-65403835-C-T PCNX3 c.5594-27C>T - IntronicSNV - 33/34
X-109298558-C-T TMEM164 c.391-12017C>T - IntronicSNV - 2/6
9-135821099-C-T GFI1B c.-701+43C>T - intron_variant - 1/10
21-28326286-G-A ADAMTS5 c.1237+772C>T - IntronicSNV - 2/7
11-1880730-C-A LSP1 c.53+6303C>A - IntronicSNV - 1/10
19-3961431-A-G DAPK3 c.630-272T>C - IntronicSNV - 6/8
4-7461827-C-CCCAC SORCS2 c.548+63745_548+63746insCCAC - IntronicInsertion - 2/26
19-4445978-T-A UBXN6 c.1200+68A>T - IntronicSNV - 10/10
9-4850301-T-C RCL1 c.971+751T>C - IntronicSNV - 8/8
16-585328-G-A CAPN15 c.-136-701G>A - intron_variant - 2/13
11-1880730-C-T LSP1 c.53+6303C>T - IntronicSNV - 1/10
7-43190561-G-T HECW1 c.-32+36571G>T - intron_variant - 2/29
10-100155019-A-C PYROXD2 c.719T>G p.Leu240* Nonsense 8/16 -
7-73125664-C-T STX1A c.31-2212G>A - IntronicSNV - 1/9
3-185485689-T-C IGF2BP2 c.239+55252A>G - IntronicSNV - 2/15
11-94199711-G-T MRE11 c.1098+1268C>A - IntronicSNV - 10/19
2-239990554-G-A HDAC4 c.2736-251C>T - IntronicSNV - 22/26
20-62551110-G-A DNAJC5 c.1-8589G>A - IntronicSNV - 1/4
3-20179097-C-T KAT2B c.1860+553C>T - IntronicSNV - 12/17
9-137271257-G-A RXRA c.29-22221G>A - IntronicSNV - 1/9
10-98901468-T-G SLIT1 c.413+16107A>C - IntronicSNV - 4/36
8-145625538-C-G CPSF1 c.937+22G>C - IntronicSNV - 9/37
5-1063051-G-A SLC12A7 c.2739+908C>T - IntronicSNV - 20/23
22-26951185-C-T TPST2 c.-160-10544G>A - intron_variant - 1/6
19-50357889-C-T PTOV1 c.310-20C>T - IntronicSNV - 2/12
6-119390263-G-A FAM184A c.159+9043C>T - IntronicSNV - 1/17
11-118889678-G-T TRAPPC4 c.173G>T p.Arg58Leu Missense 1/5 -
6-170639930-C-T FAM120B c.2017+292C>T - IntronicSNV - 4/10
13-100008451-G-A UBAC2 c.703-11590G>A - IntronicSNV - 5/6
12-47581629-T-A PCED1B c.-525-28376T>A - intron_variant - 2/3
14-55344884-G-C GCH1 c.344-12730C>G - IntronicSNV - 1/5
17-65467665-C-T PITPNC1 c.49-61253C>T - IntronicSNV - 1/8
8-145625538-C-T CPSF1 c.937+22G>A - IntronicSNV - 9/37
11-118889678-G-A TRAPPC4 c.173G>A p.Arg58Gln Missense 1/5 -
5-133561491-T-C PPP2CA c.62A>G p.Lys21Arg Missense 1/7 -
2-214622795-T-A SPAG16 c.1071-104414T>A - IntronicSNV - 10/15
13-100008451-G-T UBAC2 c.703-11590G>T - IntronicSNV - 5/6
8-145625538-C-A CPSF1 c.937+22G>T - IntronicSNV - 9/37
13-40238175-C-T COG6 c.370-1058C>T - IntronicSNV - 3/18
19-2234146-C-G PLEKHJ1 c.320+3G>C - IntronicSNV - 4/5
4-8007066-C-A ABLIM2 c.1618+2720G>T - IntronicSNV - 16/20
15-70371777-C-G TLE3 c.235-3280G>C - IntronicSNV - 4/19
X-153246549-A-C TMEM187 c.1-965A>C - IntronicSNV - 1/1
12-112475403-T-C NAA25 c.2649+1630A>G - IntronicSNV - 22/23
19-4932723-C-T UHRF1 c.570-30C>T - IntronicSNV - 4/17
9-130452977-T-C STXBP1 c.*17-77T>C - intron_variant - 19/19
5-132763295-G-C FSTL4 c.161-26617C>G - IntronicSNV - 3/15
22-26951215-T-G TPST2 c.-160-10574A>C - intron_variant - 1/6
22-26951215-T-C TPST2 c.-160-10574A>G - intron_variant - 1/6
1-151518341-T-C TUFT1 c.60+5439T>C - IntronicSNV - 1/12
19-2250666-C-G AMH c.571C>G p.Arg191Gly Missense 3/5 -
X-153996899-G-C DKC1 c.771+192G>C - IntronicSNV - 8/14
19-2250666-C-T AMH c.571C>T p.Arg191* Nonsense 3/5 -
X-153996899-G-A DKC1 c.771+192G>A - IntronicSNV - 8/14
X-1412884-G-A CSF2RA c.647-337G>A - IntronicSNV - 8/13
20-33054163-A-C ITCH c.1548-3690A>C - IntronicSNV - 15/25
3-124870376-C-G SLC12A8 c.623-15750G>C - IntronicSNV - 5/13
18-46576094-A-T DYM c.1861-5520T>A - IntronicSNV - 16/16
X-16645199-T-G CTPS2 c.1394-6744A>C - IntronicSNV - 14/18
22-19951351-T-G COMT c.483+69T>G - IntronicSNV - 4/5
7-19744982-C-T TWISTNB c.255-439G>A - IntronicSNV - 1/3
3-185485646-T-C IGF2BP2 c.239+55295A>G - IntronicSNV - 2/15
4-102251532-C-A PPP3CA c.58+16364G>T - IntronicSNV - 1/13
20-62551222-G-A DNAJC5 c.1-8477G>A - IntronicSNV - 1/4
2-220413812-A-G TMEM198 c.743-62A>G - IntronicSNV - 3/4
4-39413585-T-C KLB c.825+4191T>C - IntronicSNV - 1/4
6-45165473-A-C SUPT3H c.135-91730T>G - IntronicSNV - 4/12
6-45165473-A-G SUPT3H c.135-91730T>C - IntronicSNV - 4/12
3-114462303-C-G ZBTB20 c.-397-49881G>C - intron_variant - 4/9
3-114462303-C-A ZBTB20 c.-397-49881G>T - intron_variant - 4/9
17-925742-G-A ABR c.1681-9338C>T - IntronicSNV - 15/21
20-61870141-G-A BIRC7 c.577+175G>A - IntronicSNV - 4/6
X-17444062-G-A NHS c.565+49617G>A - IntronicSNV - 1/7
13-108183538-T-C FAM155A c.916-320435A>G - IntronicSNV - 1/2
22-46156412-C-G ATXN10 c.1173+19994C>G - IntronicSNV - 9/11
22-46156412-C-T ATXN10 c.1173+19994C>T - IntronicSNV - 9/11
1-162126956-C-T NOS1AP c.177+2690C>T - IntronicSNV - 2/9
X-113997768-G-A HTR2C c.349+31752G>A - IntronicSNV - 4/5
16-28969913-T-G NFATC2IP c.847-125T>G - IntronicSNV - 5/7
14-101347355-C-T RTL1 c.3771G>A p.Gln1257Gln Synonymous 1/1 -
7-1883829-G-A MAD1L1 c.1999-27965C>T - IntronicSNV - 18/18
7-1883829-G-C MAD1L1 c.1999-27965C>G - IntronicSNV - 18/18
19-2234086-A-T PLEKHJ1 c.321-26T>A - IntronicSNV - 4/5
5-53371370-C-T ARL15 c.462+37662G>A - IntronicSNV - 4/4
10-18134051-G-A MRC1 c.917-167G>A - IntronicSNV - 5/29
2-47604884-A-G EPCAM c.555+668A>G - IntronicSNV - 5/8
3-15537762-A-G COLQ c.107-6618T>C - IntronicSNV - 1/16
3-15537762-A-C COLQ c.107-6618T>G - IntronicSNV - 1/16
1-67094171-G-A SGIP1 c.74+2578G>A - IntronicSNV - 2/24
14-55344884-G-A GCH1 c.344-12730C>T - IntronicSNV - 1/5
12-121161048-T-G UNC119B c.*3213T>G - 3-UTRSNV 5/5 -
11-61560031-T-C TMEM258 c.1-1A>G - 5-UTRSNV 1/4 -
17-62497427-G-A DDX5 c.1217-536C>T - IntronicSNV - 11/12
1-154948201-G-C CKS1B c.59+921G>C - IntronicSNV - 1/2
6-170639877-C-T FAM120B c.2017+239C>T - IntronicSNV - 4/10
4-148703770-G-A ARHGAP10 c.155-40108G>A - IntronicSNV - 1/22
1-151518318-G-C TUFT1 c.60+5416G>C - IntronicSNV - 1/12
3-123851792-C-G KALRN c.67+38041C>G - IntronicSNV - 1/33
4-1988193-T-C NELFA c.635-64A>G - intron_variant - 4/10
1-151518318-G-A TUFT1 c.60+5416G>A - IntronicSNV - 1/12
20-62551169-C-G DNAJC5 c.1-8530C>G - IntronicSNV - 1/4
22-46156446-G-A ATXN10 c.1173+20028G>A - IntronicSNV - 9/11
2-219267407-C-T CTDSP1 c.378+279C>T - IntronicSNV - 4/6
7-126698158-T-C GRM8 c.727+48392A>G - IntronicSNV - 3/10
6-157950206-A-G ZDHHC14 c.246-13411A>G - IntronicSNV - 1/8
16-83541980-G-A CDH13 c.960+21720G>A - IntronicSNV - 7/13
1-23189715-G-C EPHB2 c.967+30G>C - IntronicSNV - 4/15
1-23189715-G-A EPHB2 c.967+30G>A - IntronicSNV - 4/15
5-118490402-G-A DMXL1 c.4702+2671G>A - IntronicSNV - 19/42
8-113655752-T-C CSMD3 c.2998+1586A>G - IntronicSNV - 19/68
3-175087408-C-T NAALADL2 c.1090+45294C>T - IntronicSNV - 5/13
10-98901463-T-C SLIT1 c.413+16112A>G - IntronicSNV - 4/36
12-54731000-C-G COPZ1 c.19-3331C>G - IntronicSNV - 1/8
1-180407505-A-G ACBD6 c.385-8108T>C - IntronicSNV - 3/7
4-115577996-C-A UGT8 c.823-7155C>A - IntronicSNV - 1/4
4-115577996-C-T UGT8 c.823-7155C>T - IntronicSNV - 1/4
20-62550794-C-T DNAJC5 c.1-8905C>T - IntronicSNV - 1/4
12-54731000-C-T COPZ1 c.19-3331C>T - IntronicSNV - 1/8
3-38010938-A-T CTDSPL c.393+1565A>T - IntronicSNV - 4/6
16-69966994-T-C WWP2 c.1683-879T>C - IntronicSNV - 17/24
9-140063648-C-T LRRC26 c.674-11G>A - IntronicSNV - 1/1
3-38010938-A-G CTDSPL c.393+1565A>G - IntronicSNV - 4/6
6-16141825-A-G MYLIP c.279-31A>G - IntronicSNV - 2/6
1-161196982-G-C TOMM40L c.184-66G>C - IntronicSNV - 3/9
11-70718466-G-T SHANK2 c.1027+24140C>A - intron_variant - 12/26
8-10682894-C-A PINX1 c.394+768G>T - IntronicSNV - 5/6
8-10682894-C-T PINX1 c.394+768G>A - IntronicSNV - 5/6
2-176032408-C-A ATF2 c.-143+370G>T - intron_variant - 1/13
3-20179130-G-A KAT2B c.1860+586G>A - IntronicSNV - 12/17
10-135185128-C-G ECHS1 c.89-867G>C - IntronicSNV - 1/7
5-140027448-C-A IK c.1-46C>A - 5-UTRSNV 1/20 -
10-135185128-C-T ECHS1 c.89-867G>A - IntronicSNV - 1/7
7-99691429-G-A MCM7 c.1320+367C>T - IntronicSNV - 12/13
5-140027448-C-T IK c.1-46C>T - 5-UTRSNV 1/20 -
5-140027448-C-G IK c.1-46C>G - 5-UTRSNV 1/20 -
10-12172775-G-C SEC61A2 c.7+982G>C - IntronicSNV - 1/11
3-197401415-C-A RUBCN c.*474G>T - 3-UTRSNV 21/21 -
10-12620763-T-G CAMK1D c.224+25408T>G - IntronicSNV - 2/9
10-35368556-A-C CUL2 c.1-8311T>G - IntronicSNV - 1/20
7-126698143-T-C GRM8 c.727+48407A>G - IntronicSNV - 3/10
3-189547778-C-T TP63 c.579+21463C>T - IntronicSNV - 4/13
8-14710983-T-G SGCZ c.40-298548A>C - IntronicSNV - 1/7
7-75544571-T-C POR c.-5+74T>C - intron_variant - 1/15
7-114293431-T-C FOXP2 c.1183-550T>C - IntronicSNV - 9/16
5-53247394-A-C ARL15 c.463-64851T>G - IntronicSNV - 4/4
2-214622795-T-G SPAG16 c.1071-104414T>G - IntronicSNV - 10/15
1-19209759-C-A ALDH4A1 c.423+14G>T - IntronicSNV - 6/14
5-54468124-A-T CDC20B c.126+292T>A - IntronicSNV - 2/11
11-94199696-G-A MRE11 c.1098+1283C>T - IntronicSNV - 10/19
2-47604856-T-C EPCAM c.555+640T>C - IntronicSNV - 5/8
19-10890999-C-G DNM2 c.689-2637C>G - IntronicSNV - 5/19
22-18246960-C-G BID c.80+9416G>C - IntronicSNV - 1/5
16-88535400-G-A ZFPM1 c.40+15314G>A - IntronicSNV - 1/9
17-57443447-G-A YPEL2 c.117+12560G>A - IntronicSNV - 2/4
16-88535400-G-C ZFPM1 c.40+15314G>C - IntronicSNV - 1/9
3-189547761-G-C TP63 c.579+21446G>C - IntronicSNV - 4/13
7-1883822-G-A MAD1L1 c.1999-27958C>T - IntronicSNV - 18/18
17-40646803-G-A ATP6V0A1 c.1336-249G>A - IntronicSNV - 12/20
22-42296995-A-G SREBF2 c.2907+493A>G - IntronicSNV - 16/18
11-67801414-C-T NDUFS8 c.372+664C>T - IntronicSNV - 5/6
17-40646803-G-T ATP6V0A1 c.1336-249G>T - IntronicSNV - 12/20
5-1063054-G-A SLC12A7 c.2739+905C>T - IntronicSNV - 20/23
7-73605546-C-T EIF4H c.469+910C>T - IntronicSNV - 5/6
20-44333749-G-A WFDC13 c.239+516G>A - IntronicSNV - 2/3
3-124451312-T-G UMPS c.156+1838T>G - IntronicSNV - 1/5
2-240007528-A-G HDAC4 c.2430-1590T>C - IntronicSNV - 19/26
15-66011633-G-A DENND4A c.1589-1299C>T - IntronicSNV - 12/31
20-62551225-C-G DNAJC5 c.1-8474C>G - IntronicSNV - 1/4
8-6602691-G-A AGPAT5 c.587-2500G>A - IntronicSNV - 5/7
10-126721357-G-A CTBP2 c.58+6209C>T - IntronicSNV - 3/10
5-168690611-C-T SLIT3 c.198-12148G>A - IntronicSNV - 1/35
1-220291302-G-A IARS2 c.1640+3486G>A - IntronicSNV - 12/22
5-168690611-C-G SLIT3 c.198-12148G>C - IntronicSNV - 1/35
2-178120681-G-T NFE2L2 c.45+8579C>A - IntronicSNV - 1/4
4-174189360-A-C GALNT7 c.587+19769A>C - IntronicSNV - 2/11
1-161197014-T-G TOMM40L c.184-34T>G - IntronicSNV - 3/9
4-110409933-A-T SEC24B c.1061-2550A>T - IntronicSNV - 3/22
9-18573360-G-A ADAMTSL1 c.238-668G>A - IntronicSNV - 3/28
14-31483883-C-T STRN3 c.282+11227G>A - IntronicSNV - 1/15
X-153996917-G-A DKC1 c.771+210G>A - IntronicSNV - 8/14
14-31483883-C-G STRN3 c.282+11227G>C - IntronicSNV - 1/15
1-233759939-C-T KCNK1 c.355+9667C>T - IntronicSNV - 1/2
9-130631702-C-T AK1 c.325-911G>A - IntronicSNV - 5/6
20-62551166-G-A DNAJC5 c.1-8533G>A - IntronicSNV - 1/4
2-69330818-T-C ANTXR1 c.802+746T>C - IntronicSNV - 10/17
2-69330818-T-A ANTXR1 c.802+746T>A - IntronicSNV - 10/17
9-100125949-T-C CCDC180 c.4035-384T>C - IntronicSNV - 28/36
9-114694393-A-G UGCG c.825-57A>G - IntronicSNV - 7/8
9-100125949-T-A CCDC180 c.4035-384T>A - IntronicSNV - 28/36
12-50627935-G-A LIMA1 c.120-2442C>T - IntronicSNV - 2/10
17-15154966-T-A PMP22 c.178+7445A>T - IntronicSNV - 3/4
15-65054668-G-A RBPMS2 c.88-10831C>T - IntronicSNV - 1/7
7-147075204-G-A CNTNAP2 c.1499-17497G>A - IntronicSNV - 9/23
14-65937889-C-A FUT8 c.-287+15453C>A - intron_variant - 2/9
2-112528649-A-G ANAPC1 c.5719+1269T>C - IntronicSNV - 47/47
15-99327711-G-A IGF1R c.640+76375G>A - IntronicSNV - 2/20
18-53146519-C-T TCF4 c.146-15151G>A - IntronicSNV - 3/19
13-40238258-C-G COG6 c.370-975C>G - IntronicSNV - 3/18
10-98901472-C-A SLIT1 c.413+16103G>T - IntronicSNV - 4/36
3-49311593-G-C C3orf62 c.447-20C>G - IntronicSNV - 1/2
1-33798007-T-G PHC2 c.1759-2A>C - IntronicSNV - 9/13
3-49311593-G-A C3orf62 c.447-20C>T - IntronicSNV - 1/2
1-37966542-T-C MEAF6 c.533+863A>G - IntronicSNV - 5/7
16-1785060-G-A MAPK8IP3 c.602+5481G>A - IntronicSNV - 4/30
18-46196998-A-G CTIF c.432-42A>G - IntronicSNV - 5/11
10-100155019-A-T PYROXD2 c.719T>A p.Leu240* Nonsense 8/16 -
11-67801420-C-T NDUFS8 c.372+670C>T - IntronicSNV - 5/6
22-35731697-G-A TOM1 c.1148+1256G>A - IntronicSNV - 11/14
6-166922862-G-A RPS6KA2 c.379+903C>T - IntronicSNV - 4/20
2-109930076-C-T SH3RF3 c.574-34054C>T - IntronicSNV - 1/9
2-109930076-C-G SH3RF3 c.574-34054C>G - IntronicSNV - 1/9
18-50763539-G-A DCC c.1911+21572G>A - IntronicSNV - 12/28
4-7461827-C-CCCA SORCS2 c.548+63745_548+63746insCCA - IntronicInsertion - 2/26
8-41518025-G-T ANK1 c.5544+1369C>A - IntronicSNV - 41/41
22-26951185-C-G TPST2 c.-160-10544G>C - intron_variant - 1/6
8-9599212-C-T TNKS c.2643+6216C>T - IntronicSNV - 17/26
5-54466544-A-G CDC20B c.126+1872T>C - IntronicSNV - 2/11
3-114121005-A-C ZBTB20 c.1-50300T>G - IntronicSNV - 4/9
11-10529849-A-G MTRNR2L8 c.1-76T>C - 5-UTRSNV 1/1 -
20-62551216-G-A DNAJC5 c.1-8483G>A - IntronicSNV - 1/4
1-31212062-A-G LAPTM5 c.388-153T>C - IntronicSNV - 4/7
19-35836511-A-G CD22 c.2215A>G p.Arg739Gly Missense 12/14 -
9-73424988-A-G TRPM3 c.514+17775T>C - IntronicSNV - 6/24
7-147075120-T-C CNTNAP2 c.1499-17581T>C - IntronicSNV - 9/23
20-62550780-C-T DNAJC5 c.1-8919C>T - IntronicSNV - 1/4
20-62550780-C-G DNAJC5 c.1-8919C>G - IntronicSNV - 1/4
5-36148078-T-C LMBRD2 c.-58+3580A>G - intron_variant - 1/17
5-53247400-C-T ARL15 c.463-64857G>A - IntronicSNV - 4/4
9-96357135-G-A PHF2 c.98+17982G>A - IntronicSNV - 1/21
5-134263798-T-C PCBD2 c.216+17642T>C - IntronicSNV - 2/3
3-197401415-C-T RUBCN c.*474G>A - 3-UTRSNV 21/21 -
1-19209759-C-T ALDH4A1 c.423+14G>A - IntronicSNV - 6/14
3-197020758-G-A DLG1 c.151+2459C>T - IntronicSNV - 3/25
1-6489914-T-C ESPN c.488+1435T>C - IntronicSNV - 2/12
2-136422988-G-A R3HDM1 c.2047+4025G>A - IntronicSNV - 18/25
10-70519093-G-A CCAR1 c.1921-1671G>A - IntronicSNV - 15/24
5-54466378-G-A CDC20B c.126+2038C>T - IntronicSNV - 2/11
X-29592425-C-G IL1RAPL1 c.704-94122C>G - IntronicSNV - 5/10
5-53247340-G-T ARL15 c.463-64797C>A - IntronicSNV - 4/4
5-53247340-G-C ARL15 c.463-64797C>G - IntronicSNV - 4/4
7-30329467-T-C ZNRF2 c.469+4025T>C - IntronicSNV - 1/4
7-101936397-C-A SH2B2 c.101-7409C>A - IntronicSNV - 1/6
10-105807928-T-C COL17A1 c.2228-66A>G - IntronicSNV - 29/55
17-35391105-C-T AATF c.1619+2123C>T - IntronicSNV - 11/11
15-63116226-C-T TLN2 c.7002+3417C>T - IntronicSNV - 51/55
7-1883863-C-T MAD1L1 c.1999-27999G>A - IntronicSNV - 18/18
6-157950175-G-A ZDHHC14 c.246-13442G>A - IntronicSNV - 1/8
6-35632542-T-G FKBP5 c.1-21941A>C - IntronicSNV - 2/11
6-35632542-T-C FKBP5 c.1-21941A>G - IntronicSNV - 2/11
8-14711013-T-G SGCZ c.40-298578A>C - IntronicSNV - 1/7
8-14711013-T-C SGCZ c.40-298578A>G - IntronicSNV - 1/7
1-176998565-T-C ASTN1 c.1120+205A>G - IntronicSNV - 5/22
14-60113692-T-A RTN1 c.1766-39482A>T - IntronicSNV - 3/8
3-55886608-G-A ERC2 c.2564+35809C>T - IntronicSNV - 14/17
22-33832598-G-A LARGE1 c.788-4347C>T - IntronicSNV - 6/14
6-157100842-T-G ARID1B c.1542+237T>G - IntronicSNV - 1/19
15-59463460-T-G MYO1E c.2480+636A>C - IntronicSNV - 22/27
7-102111936-G-A LRWD1 c.1443-729G>A - IntronicSNV - 11/14
7-44921348-T-C PURB c.*2661A>G - 3-UTRSNV 1/1 -
1-110141578-C-T GNAI3 c.*6634C>T - 3_prime_UTR_variant 9/9 -
3-197401442-C-T RUBCN c.*447G>A - 3-UTRSNV 21/21 -
19-19545932-A-G GATAD2A c.1-30223A>G - IntronicSNV - 1/11
5-134263736-C-T PCBD2 c.216+17580C>T - IntronicSNV - 2/3
16-28969913-T-C NFATC2IP c.847-125T>C - IntronicSNV - 5/7
3-49311589-G-C C3orf62 c.447-16C>G - IntronicSNV - 1/2
3-49311589-G-A C3orf62 c.447-16C>T - IntronicSNV - 1/2
3-49311589-G-T C3orf62 c.447-16C>A - IntronicSNV - 1/2
17-12820632-A-T ARHGAP44 c.387+1304A>T - IntronicSNV - 5/20
2-220413813-G-C TMEM198 c.743-61G>C - IntronicSNV - 3/4
10-115933876-G-A CCDC186 c.-164C>T - 5_prime_UTR_variant 1/16 -
10-12695177-A-G CAMK1D c.225-13558A>G - IntronicSNV - 2/9
3-55886594-A-G ERC2 c.2564+35823T>C - IntronicSNV - 14/17
12-116586414-C-A MED13L c.311-37097G>T - IntronicSNV - 2/30
X-151562938-A-T GABRA3 c.1-29896T>A - IntronicSNV - 1/9
19-4932737-C-G UHRF1 c.570-16C>G - IntronicSNV - 4/17
X-113886051-T-C HTR2C c.-80+37712T>C - intron_variant - 2/5
1-171070937-C-A FMO3 c.133-1989C>A - IntronicSNV - 2/8
1-236016347-C-A LYST c.-98+13796G>T - intron_variant - 1/52
2-86420158-T-G IMMT c.45+2303A>C - IntronicSNV - 1/14
3-47891069-G-A DHX30 c.3191+25G>A - IntronicSNV - 20/21
4-113569692-C-A LARP7 c.1142+702C>A - IntronicSNV - 8/12
4-113569692-C-T LARP7 c.1142+702C>T - IntronicSNV - 8/12
15-70371772-C-T TLE3 c.235-3275G>A - IntronicSNV - 4/19
1-117637325-C-T TTF2 c.2977-606C>T - IntronicSNV - 18/22
2-207974756-A-G KLF7 c.733+13742T>C - IntronicSNV - 2/3
10-105807858-A-G COL17A1 c.2232T>C p.Pro744Pro Synonymous 30/56 -
11-113320799-G-T DRD2 c.-32+24999C>A - intron_variant - 1/7
12-54731071-C-A COPZ1 c.19-3260C>A - IntronicSNV - 1/8
5-9053945-C-T SEMA5A c.2689+254G>A - IntronicSNV - 19/22
3-186504532-C-T EIF4A2 c.771+98C>T - IntronicSNV - 7/10
19-35836497-C-T CD22 c.2209-8C>T - IntronicSNV - 11/13
9-131007109-G-A DNM1 c.1672-1564G>A - IntronicSNV - 15/21
15-93447631-T-C CHD2 c.62+3102T>C - IntronicSNV - 2/38
15-93447631-T-A CHD2 c.62+3102T>A - IntronicSNV - 2/38
1-220373943-C-G RAB3GAP2 c.811+1675G>C - IntronicSNV - 9/34
8-10682898-A-G PINX1 c.394+764T>C - IntronicSNV - 5/6
3-114035387-T-G ZBTB20 c.*22465A>C - IntergenicSNV 10/10 -
9-131007109-G-T DNM1 c.1672-1564G>T - IntronicSNV - 15/21
8-104166905-C-CC BAALC c.160+13620_160+13620dup - IntronicInsertion - 1/1
16-69967062-A-G WWP2 c.1683-811A>G - IntronicSNV - 17/24
20-62551113-C-G DNAJC5 c.1-8586C>G - IntronicSNV - 1/4
17-72744827-C-T SLC9A3R1 c.1-159C>T - 5-UTRSNV 1/6 -
6-159185778-A-C SYTL3 c.*142A>C - 3-UTRSNV 17/17 -
11-126858392-A-G KIRREL3 c.55+11959T>C - IntronicSNV - 1/16
19-50357890-G-A PTOV1 c.310-19G>A - IntronicSNV - 2/12
3-16974725-C-T PLCL2 c.327+47860C>T - intron_variant - 4/8
7-101936435-T-A SH2B2 c.101-7371T>A - IntronicSNV - 1/6
11-34963459-T-C PDHX c.242-5594T>C - IntronicSNV - 2/10
4-83674520-G-A SCD5 c.232+44939C>T - IntronicSNV - 1/3
4-83674520-G-C SCD5 c.232+44939C>G - IntronicSNV - 1/3
1-31212074-C-T LAPTM5 c.388-165G>A - IntronicSNV - 4/7
12-65016300-A-C RASSF3 c.111+11777A>C - IntronicSNV - 1/4
12-65016300-A-G RASSF3 c.111+11777A>G - IntronicSNV - 1/4
7-102046296-T-G PRKRIP1 c.392+1166T>G - IntronicSNV - 4/5
5-133561486-G-A PPP2CA c.67C>T p.Leu23Leu Synonymous 1/7 -
15-81134346-T-C CEMIP c.1-31875T>C - IntronicSNV - 1/28
11-72494584-G-C STARD10 c.1-2358C>G - IntronicSNV - 1/6
3-120114558-C-T FSTL1 c.*1241G>A - 3-UTRSNV 11/11 -
6-44403399-C-A CDC5L c.2091+5752C>A - IntronicSNV - 14/15
12-50627942-G-A LIMA1 c.120-2449C>T - IntronicSNV - 2/10
10-98901457-T-TTCGTA SLIT1 c.413+16117_413+16118insTACGA - IntronicInsertion - 4/36
1-231155616-G-T FAM89A c.548C>A p.Ser183Tyr Missense 2/2 -
1-12251808-T-G TNFRSF1B c.308-23T>G - IntronicSNV - 3/9
1-12251808-T-C TNFRSF1B c.308-23T>C - IntronicSNV - 3/9
14-101351048-G-A RTL1 c.78C>T p.Ser26Ser Synonymous 1/1 -
14-101351048-G-C RTL1 c.78C>G p.Ser26Ser Synonymous 1/1 -
1-33798031-G-A PHC2 c.1759-26C>T - IntronicSNV - 9/13
10-98901468-T-C SLIT1 c.413+16107A>G - IntronicSNV - 4/36
15-45725255-C-G C15orf48 c.*41C>G - 3-UTRSNV 4/4 -
2-128181122-G-A PROC c.535+138G>A - IntronicSNV - 6/8
16-67236292-C-G ELMO3 c.1262-8C>G - splice_region_variant,intron_variant - 13/19
16-67236292-C-A ELMO3 c.1262-8C>A - splice_region_variant,intron_variant - 13/19
3-49843636-C-T UBA7 c.2716-38G>A - IntronicSNV - 21/23
1-68649290-A-G WLS c.379+10348T>C - IntronicSNV - 2/11
17-43552789-C-T PLEKHM1 c.600G>A p.Pro200Pro Synonymous 4/12 -
22-38240289-G-A ANKRD54 c.1-44C>T - 5-UTRSNV 1/8 -
18-13611164-G-T LDLRAD4 c.182-9952G>T - IntronicSNV - 3/5
22-38240289-G-T ANKRD54 c.1-44C>A - 5-UTRSNV 1/8 -
5-54468094-C-T CDC20B c.126+322G>A - IntronicSNV - 2/11
19-6416447-G-A KHSRP c.1489-29C>T - IntronicSNV - 14/19
6-31924631-G-A NELFE c.146-16C>T - IntronicSNV - 3/10
6-31924631-G-C NELFE c.146-16C>G - IntronicSNV - 3/10
1-68649258-C-T WLS c.379+10380G>A - IntronicSNV - 2/11
17-29861935-G-A RAB11FIP4 c.*3185G>A - 3-UTRSNV 15/15 -
17-66420605-T-C WIPI1 c.1293+1611A>G - IntronicSNV - 12/12
14-50766639-G-A L2HGDH c.408+2096C>T - IntronicSNV - 3/9
14-65511443-C-T CHURC1-FNTB c.817+282C>T - IntronicSNV - 10/12
2-180725568-T-C ZNF385B c.-155+260A>G - intron_variant - 1/9
19-2234080-G-C PLEKHJ1 c.321-20C>G - IntronicSNV - 4/5
19-2234080-G-A PLEKHJ1 c.321-20C>T - IntronicSNV - 4/5
1-68649258-C-G WLS c.379+10380G>C - IntronicSNV - 2/11
9-20502274-G-T MLLT3 c.194-45490C>A - IntronicSNV - 2/10
1-209796810-G-T LAMB3 c.2358+40C>A - IntronicSNV - 16/22
2-208619553-T-C CCNYL1 c.*1131T>C - 3-UTRSNV 11/11 -
10-126721373-C-T CTBP2 c.58+6193G>A - IntronicSNV - 3/10
1-228284991-C-T ARF1 c.148+28C>T - IntronicSNV - 2/4
3-175087390-G-A NAALADL2 c.1090+45276G>A - IntronicSNV - 5/13
11-36031698-C-T LDLRAD3 c.47-25955C>T - IntronicSNV - 1/5
2-220413807-G-A TMEM198 c.743-67G>A - IntronicSNV - 3/4
15-66011630-A-G DENND4A c.1589-1296T>C - IntronicSNV - 12/31
19-14640439-G-A TECR c.1-70G>A - 5-UTRSNV 1/13 -
10-105807855-A-C COL17A1 c.2235T>G p.Ala745Ala Synonymous 30/56 -
20-33054160-A-G ITCH c.1548-3693A>G - IntronicSNV - 15/25
2-176032376-G-T ATF2 c.-143+402C>A - intron_variant - 1/13
5-100152234-T-C ST8SIA4 c.798-4401A>G - IntronicSNV - 4/4
2-176032376-G-A ATF2 c.-143+402C>T - intron_variant - 1/13
4-40504072-G-A RBM47 c.-155+13812C>T - intron_variant - 1/4
1-54519800-G-A TCEANC2 c.1-296G>A - IntronicSNV - 1/4
16-56279479-T-C GNAO1 c.162-30364T>C - IntronicSNV - 2/8
20-62550859-G-A DNAJC5 c.1-8840G>A - IntronicSNV - 1/4
8-141742750-A-G PTK2 c.2096+2600T>C - IntronicSNV - 22/31
10-115933913-T-C CCDC186 c.-201A>G - 5_prime_UTR_variant 1/16 -
X-112023986-A-C AMOT c.1246+128T>G - IntronicSNV - 10/11
14-23887219-T-G MYH7 c.4169+200A>C - IntronicSNV - 30/39
12-116586405-T-C MED13L c.311-37088A>G - IntronicSNV - 2/30
17-58120405-C-T HEATR6 c.*519G>A - IntergenicSNV 20/20 -
14-23887219-T-A MYH7 c.4169+200A>T - IntronicSNV - 30/39
5-179225324-G-A MGAT4B c.1510+23C>T - IntronicSNV - 13/14
20-2633466-C-T NOP56 c.4-22C>T - IntronicSNV - 1/11
3-160122434-G-A SMC4 c.687+142G>A - IntronicSNV - 5/23
7-102106201-G-A LRWD1 c.81-63G>A - IntronicSNV - 1/14
6-170639892-C-G FAM120B c.2017+254C>G - IntronicSNV - 4/10
1-10287820-C-T KIF1B c.1-4567C>T - IntronicSNV - 1/46
1-10287820-C-A KIF1B c.1-4567C>A - IntronicSNV - 1/46
15-31357325-C-T TRPM1 c.724+954G>A - IntronicSNV - 6/26
20-62551272-G-A DNAJC5 c.1-8427G>A - IntronicSNV - 1/4
20-62550880-G-A DNAJC5 c.1-8819G>A - IntronicSNV - 1/4
10-126721423-C-A CTBP2 c.58+6143G>T - IntronicSNV - 3/10
5-95149655-C-G GLRX c.*1013G>C - 3_prime_UTR_variant 3/3 -
11-61582708-T-C FADS1 c.375+1319A>G - IntronicSNV - 1/11
17-12820632-A-C ARHGAP44 c.387+1304A>C - IntronicSNV - 5/20
1-23189667-C-G EPHB2 c.949C>G p.Leu317Val Missense 4/16 -
1-176998548-T-C ASTN1 c.1120+222A>G - IntronicSNV - 5/22
3-188406636-C-T LPP c.1114-19419C>T - IntronicSNV - 6/10
15-31357238-C-T TRPM1 c.724+1041G>A - IntronicSNV - 6/26
7-1062626-C-T C7orf50 c.130-12847G>A - IntronicSNV - 2/4
20-62550803-G-A DNAJC5 c.1-8896G>A - IntronicSNV - 1/4
6-135300536-T-C HBS1L c.1472-130A>G - IntronicSNV - 12/16
11-19781594-G-A NAV2 c.267+46086G>A - IntronicSNV - 1/37
20-2633466-C-G NOP56 c.4-22C>G - IntronicSNV - 1/11
10-98901443-C-T SLIT1 c.413+16132G>A - IntronicSNV - 4/36
19-40788477-A-G AKT2 c.-85+2611T>C - intron_variant - 1/13
19-40788477-A-C AKT2 c.-85+2611T>G - intron_variant - 1/13
6-159185716-G-A SYTL3 c.*80G>A - 3-UTRSNV 17/17 -
1-23189667-C-T EPHB2 c.949C>T p.Leu317Leu Synonymous 4/16 -
2-114478923-C-T SLC35F5 c.1341+1758G>A - IntronicSNV - 13/15
6-135300556-G-A HBS1L c.1472-150C>T - IntronicSNV - 12/16
16-83541990-G-A CDH13 c.960+21730G>A - IntronicSNV - 7/13
16-69967005-C-A WWP2 c.1683-868C>A - IntronicSNV - 17/24
15-69094259-C-A ANP32A c.55-14001G>T - IntronicSNV - 1/6
5-9053975-G-C SEMA5A c.2689+224C>G - IntronicSNV - 19/22
20-18451325-T-C POLR3F c.180+1620T>C - IntronicSNV - 2/8
11-74431316-A-G CHRDL2 c.83-1439T>C - IntronicSNV - 1/10
14-101347448-A-G RTL1 c.3678T>C p.Gly1226Gly Synonymous 1/1 -
12-104324309-G-T HSP90B1 c.16G>T p.Val6Leu Missense 1/18 -
10-98901475-T-G SLIT1 c.413+16100A>C - IntronicSNV - 4/36
16-1785038-G-A MAPK8IP3 c.602+5459G>A - IntronicSNV - 4/30
X-112023949-C-T AMOT c.1246+165G>A - IntronicSNV - 10/11
19-35836530-G-C CD22 c.2234G>C p.Gly745Ala Missense 12/14 -
19-35836530-G-A CD22 c.2234G>A p.Gly745Asp Missense 12/14 -
2-110844047-C-T MALL c.400-713G>A - IntronicSNV - 3/3
1-161196982-G-A TOMM40L c.184-66G>A - IntronicSNV - 3/9
7-98479285-T-G TRRAP c.101-313T>G - IntronicSNV - 2/70
19-46178206-T-G GIPR c.633+122T>G - IntronicSNV - 7/13
12-120151501-G-A CIT c.4181-48C>T - IntronicSNV - 32/46
1-100746855-T-C RTCA c.839-3929T>C - IntronicSNV - 9/11
11-118889715-G-A TRAPPC4 c.175+35G>A - IntronicSNV - 1/4
1-60198944-A-G FGGY c.1585-24659A>G - IntronicSNV - 15/16
7-73605551-T-A EIF4H c.469+915T>A - IntronicSNV - 5/6
9-73424956-A-G TRPM3 c.514+17807T>C - IntronicSNV - 6/24
3-38010964-G-A CTDSPL c.393+1591G>A - IntronicSNV - 4/6
2-86420201-G-C IMMT c.45+2260C>G - IntronicSNV - 1/14
7-98479350-C-T TRRAP c.101-248C>T - IntronicSNV - 2/70
2-12877503-A-AA TRIB2 c.564-2949_564-2949dup - IntronicInsertion - 2/2
16-88535407-C-G ZFPM1 c.40+15321C>G - IntronicSNV - 1/9
8-144895201-G-A SCRIB c.641C>T p.Pro214Leu Missense 7/36 -
16-1785015-C-T MAPK8IP3 c.602+5436C>T - IntronicSNV - 4/30
11-118889715-G-T TRAPPC4 c.175+35G>T - IntronicSNV - 1/4
11-1880764-C-T LSP1 c.53+6337C>T - IntronicSNV - 1/10
11-1880764-C-A LSP1 c.53+6337C>A - IntronicSNV - 1/10
3-114035388-A-G ZBTB20 c.*22464T>C - IntergenicSNV 10/10 -
13-24736590-C-T SPATA13 c.-223+1519C>T - intron_variant - 1/11
13-24736590-C-A SPATA13 c.-223+1519C>A - intron_variant - 1/11
10-98901476-A-C SLIT1 c.413+16099T>G - IntronicSNV - 4/36
6-138756428-T-C NHSL1 c.677-1611A>G - IntronicSNV - 4/6
11-48118365-T-C PTPRJ c.97-13245T>C - IntronicSNV - 1/8
9-36864298-T-C PAX5 c.911-17372A>G - IntronicSNV - 7/8
16-83541980-G-C CDH13 c.960+21720G>C - IntronicSNV - 7/13
7-101936374-C-G SH2B2 c.101-7432C>G - IntronicSNV - 1/6
3-44903434-G-C TMEM42 c.18G>C p.Gly6Gly Synonymous 1/3 -
15-70371777-C-A TLE3 c.235-3280G>T - IntronicSNV - 4/19
15-70371777-C-T TLE3 c.235-3280G>A - IntronicSNV - 4/19
3-19356389-A-G KCNH8 c.443-27690A>G - IntronicSNV - 3/15
11-75046227-T-A ARRB1 c.20+16405A>T - IntronicSNV - 1/15
8-14710999-A-G SGCZ c.40-298564T>C - IntronicSNV - 1/7
1-155316214-T-C ASH1L c.7850A>G p.His2617Arg Missense 21/28 -
10-53059406-T-C PRKG1 c.433+146316T>C - IntronicSNV - 2/17
7-30329444-G-A ZNRF2 c.469+4002G>A - IntronicSNV - 1/4
19-804962-C-T PTBP1 c.717+23C>T - IntronicSNV - 7/14
7-127721934-C-T SND1 c.2110+381C>T - IntronicSNV - 18/23
18-46576058-T-C DYM c.1861-5484A>G - IntronicSNV - 16/16
6-5148546-C-T LYRM4 c.208-38821G>A - IntronicSNV - 2/2
12-47581639-T-G PCED1B c.-525-28366T>G - intron_variant - 2/3
5-72174432-C-G TNPO1 c.920+1259C>G - IntronicSNV - 9/24
20-62574006-A-T UCKL1 c.923+1000T>A - IntronicSNV - 8/14
10-105807912-C-T COL17A1 c.2228-50G>A - IntronicSNV - 29/55
2-189842822-A-T COL3A1 c.79+3528A>T - IntronicSNV - 1/50
1-170120566-C-T METTL11B c.154+5164C>T - IntronicSNV - 1/3
15-75081078-G-A CSK c.-66+6017G>A - intron_variant - 1/12
5-53371399-C-T ARL15 c.462+37633G>A - IntronicSNV - 4/4
X-153996893-T-C DKC1 c.771+186T>C - IntronicSNV - 8/14
11-118889713-G-A TRAPPC4 c.175+33G>A - IntronicSNV - 1/4
3-111831684-A-T C3orf52 c.468-127A>T - IntronicSNV - 4/5
20-62574006-A-G UCKL1 c.923+1000T>C - IntronicSNV - 8/14
1-3477292-C-T MEGF6 c.481+19097G>A - IntronicSNV - 4/36
11-10529847-G-A MTRNR2L8 c.1-74C>T - 5-UTRSNV 1/1 -
19-49812123-C-T SLC6A16 c.1229+10G>A - IntronicSNV - 7/11
14-101347408-G-A RTL1 c.3718C>T p.Leu1240Leu Synonymous 1/1 -
11-101390610-C-T TRPC6 c.171-15081G>A - IntronicSNV - 1/12
7-75544518-C-T POR c.-5+21C>T - intron_variant - 1/15
20-62574006-A-C UCKL1 c.923+1000T>G - IntronicSNV - 8/14
17-925764-A-G ABR c.1681-9360T>C - IntronicSNV - 15/21
15-45725255-C-T C15orf48 c.*41C>T - 3-UTRSNV 4/4 -
8-9599255-C-G TNKS c.2643+6259C>G - IntronicSNV - 17/26
X-32659592-C-A DMD c.1331+2657G>T - IntronicSNV - 11/78
8-9599255-C-T TNKS c.2643+6259C>T - IntronicSNV - 17/26
22-35731646-G-A TOM1 c.1148+1205G>A - IntronicSNV - 11/14
20-62550862-C-A DNAJC5 c.1-8837C>A - IntronicSNV - 1/4
20-62550862-C-G DNAJC5 c.1-8837C>G - IntronicSNV - 1/4
19-35836492-G-T CD22 c.2209-13G>T - IntronicSNV - 11/13
6-41566509-G-A FOXP4 c.1857-18G>A - IntronicSNV - 16/16
17-72744805-C-G SLC9A3R1 c.1-181C>G - 5-UTRSNV 1/6 -
17-72744805-C-T SLC9A3R1 c.1-181C>T - 5-UTRSNV 1/6 -
16-593323-G-A CAPN15 c.1-3516G>A - IntronicSNV - 3/13
14-74946891-C-T NPC2 c.*86G>A - 3-UTRSNV 5/5 -
19-50436324-G-A ATF5 c.824G>A p.Arg275Gln Missense 3/3 -
X-32659592-C-T DMD c.1331+2657G>A - IntronicSNV - 11/78
10-74480800-C-T MCU c.150+28741C>T - IntronicSNV - 1/7
1-167967963-G-C DCAF6 c.904-3757G>C - IntronicSNV - 7/19
1-167967963-G-A DCAF6 c.904-3757G>A - IntronicSNV - 7/19
4-7461769-A-G SORCS2 c.548+63687A>G - IntronicSNV - 2/26
17-925776-G-A ABR c.1681-9372C>T - IntronicSNV - 15/21
20-62550791-A-G DNAJC5 c.1-8908A>G - IntronicSNV - 1/4
20-33578255-C-T MYH7B c.2103+142C>T - IntronicSNV - 22/44
2-12877501-G-GA TRIB2 c.564-2951_564-2950insA - IntronicInsertion - 2/2
1-201777752-C-A NAV1 c.4038+14C>A - IntronicSNV - 19/29
19-35836492-G-A CD22 c.2209-13G>A - IntronicSNV - 11/13
17-43552790-G-A PLEKHM1 c.599C>T p.Pro200Leu Missense 4/12 -
17-66420592-A-G WIPI1 c.1293+1624T>C - IntronicSNV - 12/12
8-144815291-A-G FAM83H c.-16+570T>C - intron_variant - 1/4
1-150524405-G-A ADAMTSL4 c.1-360G>A - IntronicSNV - 2/18
20-62551281-C-G DNAJC5 c.1-8418C>G - IntronicSNV - 1/4
5-154209024-A-G FAXDC2 c.366+1337T>C - IntronicSNV - 5/8
7-1062574-G-T C7orf50 c.130-12795C>A - IntronicSNV - 2/4
20-62551255-C-T DNAJC5 c.1-8444C>T - IntronicSNV - 1/4
17-13446849-C-A HS3ST3A1 c.600-46714G>T - IntronicSNV - 1/1
14-64561812-G-A SYNE2 c.12108+1614G>A - IntronicSNV - 61/115
X-151127092-A-G GABRE c.784+1219T>C - IntronicSNV - 6/8
1-12251808-T-A TNFRSF1B c.308-23T>A - IntronicSNV - 3/9
1-220291292-A-G IARS2 c.1640+3476A>G - IntronicSNV - 12/22
7-1062599-T-C C7orf50 c.130-12820A>G - IntronicSNV - 2/4
9-135821135-C-T GFI1B c.-701+79C>T - intron_variant - 1/10
13-40238256-G-T COG6 c.370-977G>T - IntronicSNV - 3/18
4-110409923-T-G SEC24B c.1061-2560T>G - IntronicSNV - 3/22
7-44150504-C-G AEBP1 c.1486-8C>G - IntronicSNV - 12/20
1-23046058-G-A EPHB2 c.61+8522G>A - IntronicSNV - 1/15
7-44150504-C-T AEBP1 c.1486-8C>T - IntronicSNV - 12/20
1-151518322-G-A TUFT1 c.60+5420G>A - IntronicSNV - 1/12
9-137271302-G-A RXRA c.29-22176G>A - IntronicSNV - 1/9
4-110409867-G-A SEC24B c.1061-2616G>A - IntronicSNV - 3/22
15-93447631-T-G CHD2 c.62+3102T>G - IntronicSNV - 2/38
20-62550854-G-C DNAJC5 c.1-8845G>C - IntronicSNV - 1/4
3-197401372-G-T RUBCN c.*517C>A - 3-UTRSNV 21/21 -
3-197401372-G-C RUBCN c.*517C>G - 3-UTRSNV 21/21 -
3-197401372-G-A RUBCN c.*517C>T - 3-UTRSNV 21/21 -
7-95849010-A-C SLC25A13 c.329-10721T>G - IntronicSNV - 4/17
4-7312222-C-T SORCS2 c.481-85793C>T - IntronicSNV - 1/26
17-72744798-G-C SLC9A3R1 c.1-188G>C - 5-UTRSNV 1/6 -
8-10682905-C-T PINX1 c.394+757G>A - IntronicSNV - 5/6
7-102046276-A-G PRKRIP1 c.392+1146A>G - IntronicSNV - 4/5
10-98901476-A-G SLIT1 c.413+16099T>C - IntronicSNV - 4/36
1-54519753-G-C TCEANC2 c.1-343G>C - IntronicSNV - 1/4
7-44921387-C-A PURB c.*2622G>T - 3-UTRSNV 1/1 -
15-69094207-G-A ANP32A c.55-13949C>T - IntronicSNV - 1/6
1-54519826-T-C TCEANC2 c.1-270T>C - IntronicSNV - 1/4
3-160122421-A-G SMC4 c.687+129A>G - IntronicSNV - 5/23
18-19405676-C-T MIB1 c.1829+6069C>T - IntronicSNV - 12/20
14-65511444-G-A CHURC1-FNTB c.817+283G>A - IntronicSNV - 10/12
1-17604437-C-T PADI3 c.1555+1066C>T - IntronicSNV - 13/15
8-41128578-G-A SFRP1 c.623-5570C>T - IntronicSNV - 2/2
7-98479282-A-T TRRAP c.101-316A>T - IntronicSNV - 2/70
20-62574016-C-T UCKL1 c.923+990G>A - IntronicSNV - 8/14
5-153726728-G-T GALNT10 c.568+17430G>T - IntronicSNV - 4/11
5-72174488-T-C TNPO1 c.920+1315T>C - IntronicSNV - 9/24
5-168690612-A-C SLIT3 c.198-12149T>G - IntronicSNV - 1/35
5-168690612-A-G SLIT3 c.198-12149T>C - IntronicSNV - 1/35
7-99691200-C-T MCM7 c.1321-176G>A - IntronicSNV - 12/13
20-33578276-C-T MYH7B c.2103+163C>T - IntronicSNV - 22/44
22-46156451-G-A ATXN10 c.1173+20033G>A - IntronicSNV - 9/11
22-46156451-G-C ATXN10 c.1173+20033G>C - IntronicSNV - 9/11
5-134263801-T-C PCBD2 c.216+17645T>C - IntronicSNV - 2/3
11-46774690-A-AA CKAP5 c.4877+172_4877+172dup - IntronicInsertion - 36/42
10-115933905-C-T CCDC186 c.-193G>A - 5_prime_UTR_variant 1/16 -
12-104324266-G-A HSP90B1 c.1-28G>A - 5-UTRSNV 1/18 -
11-70130159-T-C PPFIA1 c.264+11617T>C - IntronicSNV - 2/27
5-168690635-C-T SLIT3 c.198-12172G>A - IntronicSNV - 1/35
4-114028104-A-T ANK2 c.84+57136A>T - IntronicSNV - 1/45
8-144815301-G-C FAM83H c.-16+560C>G - intron_variant - 1/4
8-144815301-G-A FAM83H c.-16+560C>T - intron_variant - 1/4
17-13446846-T-C HS3ST3A1 c.600-46711A>G - IntronicSNV - 1/1
5-54468166-C-T CDC20B c.126+250G>A - IntronicSNV - 2/11
18-50763542-C-A DCC c.1911+21575C>A - IntronicSNV - 12/28
X-37883165-T-C SYTL5 c.1-9978T>C - IntronicSNV - 1/16
20-62550871-C-A DNAJC5 c.1-8828C>A - IntronicSNV - 1/4
8-117886982-C-T RAD21 c.-165G>A - 5_prime_UTR_variant 1/14 -
19-804959-C-T PTBP1 c.717+20C>T - IntronicSNV - 7/14
20-62550806-G-C DNAJC5 c.1-8893G>C - IntronicSNV - 1/4
4-39413540-G-A KLB c.825+4146G>A - IntronicSNV - 1/4
20-62550890-C-T DNAJC5 c.1-8809C>T - IntronicSNV - 1/4
18-53146505-G-A TCF4 c.146-15137C>T - IntronicSNV - 3/19
1-237634431-A-G RYR2 c.1708+1944A>G - IntronicSNV - 17/104
13-40238257-T-C COG6 c.370-976T>C - IntronicSNV - 3/18
2-220413812-A-T TMEM198 c.743-62A>T - IntronicSNV - 3/4
7-44150510-A-T AEBP1 c.1486-2A>T - IntronicSNV - 12/20
2-220413812-A-C TMEM198 c.743-62A>C - IntronicSNV - 3/4
19-4445978-T-C UBXN6 c.1200+68A>G - IntronicSNV - 10/10
6-44403438-A-G CDC5L c.2091+5791A>G - IntronicSNV - 14/15
9-130452968-G-T STXBP1 c.*17-86G>T - intron_variant - 19/19
X-153996905-T-C DKC1 c.771+198T>C - IntronicSNV - 8/14
13-41384931-G-A SLC25A15 c.*1128G>A - 3-UTRSNV 7/7 -
10-100155011-T-G PYROXD2 c.727A>C p.Thr243Pro Missense 8/16 -
10-98901475-T-C SLIT1 c.413+16100A>G - IntronicSNV - 4/36
4-115577997-C-G UGT8 c.823-7154C>G - IntronicSNV - 1/4
9-130452987-G-A STXBP1 c.*17-67G>A - intron_variant - 19/19
16-88535341-G-A ZFPM1 c.40+15255G>A - IntronicSNV - 1/9
15-72879653-A-G ARIH1 c.*4020A>G - IntergenicSNV 14/14 -
2-207648009-G-A FASTKD2 c.1428-3448G>A - IntronicSNV - 7/11
11-79133220-T-C TENM4 c.-321+18333A>G - intron_variant - 1/33
4-115577997-C-A UGT8 c.823-7154C>A - IntronicSNV - 1/4
5-36148054-G-C LMBRD2 c.-58+3604C>G - intron_variant - 1/17
5-36148054-G-T LMBRD2 c.-58+3604C>A - intron_variant - 1/17
16-85775275-A-G C16orf74 c.1-6452T>C - IntronicSNV - 1/3
5-168690697-C-G SLIT3 c.198-12234G>C - IntronicSNV - 1/35
1-65045551-C-T CACHD1 c.262-2288C>T - intron_variant - 2/26
9-20411221-G-A MLLT3 c.1125+2498C>T - IntronicSNV - 5/10
1-65045551-C-A CACHD1 c.262-2288C>A - intron_variant - 2/26
8-41128605-T-C SFRP1 c.623-5597A>G - IntronicSNV - 2/2
4-1988144-C-A NELFA c.635-15G>T - intron_variant - 4/10
20-61918164-C-T ARFGAP1 c.911+370C>T - IntronicSNV - 12/12
3-48681684-G-A CELSR3 c.8130C>T p.Ser2710Ser Synonymous 27/35 -
20-61918164-C-G ARFGAP1 c.911+370C>G - IntronicSNV - 12/12
X-109325380-A-G TMEM164 c.440+14756A>G - IntronicSNV - 3/6
9-20411192-A-G MLLT3 c.1125+2527T>C - IntronicSNV - 5/10
10-24564653-C-A KIAA1217 c.354+55815C>A - IntronicSNV - 2/20
11-79133239-G-A TENM4 c.-321+18314C>T - intron_variant - 1/33
15-34820530-T-C GOLGA8B c.1353-40A>G - IntronicSNV - 21/23
10-24564653-C-T KIAA1217 c.354+55815C>T - IntronicSNV - 2/20
18-13459950-A-G LDLRAD4 c.181+21567A>G - IntronicSNV - 3/5
10-127508356-T-G UROS c.-27+3242A>C - intron_variant - 1/9
10-115933913-T-G CCDC186 c.-201A>C - 5_prime_UTR_variant 1/16 -
5-132763351-A-C FSTL4 c.161-26673T>G - IntronicSNV - 3/15
18-46196977-C-T CTIF c.432-63C>T - IntronicSNV - 5/11
14-65511418-G-A CHURC1-FNTB c.817+257G>A - IntronicSNV - 10/12
1-117102649-C-T CD58 c.70+10876G>A - IntronicSNV - 1/5
20-33054223-A-G ITCH c.1548-3630A>G - IntronicSNV - 15/25
20-33054223-A-C ITCH c.1548-3630A>C - IntronicSNV - 15/25
1-170120575-T-G METTL11B c.154+5173T>G - IntronicSNV - 1/3
1-32552592-T-C TMEM39B c.591-4684T>C - IntronicSNV - 5/8
1-32552592-T-G TMEM39B c.591-4684T>G - IntronicSNV - 5/8
10-131641629-C-T EBF3 c.1102-163G>A - IntronicSNV - 11/15
7-43190538-G-A HECW1 c.-32+36548G>A - intron_variant - 2/29
2-189162305-G-C GULP1 c.-172+5412G>C - intron_variant - 1/11
7-102111970-C-T LRWD1 c.1443-695C>T - IntronicSNV - 11/14
1-201777751-G-A NAV1 c.4038+13G>A - IntronicSNV - 19/29
10-12172775-G-A SEC61A2 c.7+982G>A - IntronicSNV - 1/11
8-9599276-G-A TNKS c.2644-6258G>A - IntronicSNV - 17/26
1-167967958-A-G DCAF6 c.904-3762A>G - IntronicSNV - 7/19
3-189547779-G-A TP63 c.579+21464G>A - IntronicSNV - 4/13
3-189547779-G-C TP63 c.579+21464G>C - IntronicSNV - 4/13
3-189547779-G-T TP63 c.579+21464G>T - IntronicSNV - 4/13
11-36031753-G-A LDLRAD3 c.47-25900G>A - IntronicSNV - 1/5
11-19781622-T-C NAV2 c.267+46114T>C - IntronicSNV - 1/37
2-47604893-T-C EPCAM c.555+677T>C - IntronicSNV - 5/8
7-102106265-C-T LRWD1 c.82C>T p.Leu28Leu Synonymous 2/15 -
20-45795618-G-A EYA2 c.979-2169G>A - IntronicSNV - 10/15
5-133561535-G-A PPP2CA c.18C>T p.Phe6Phe Synonymous 1/7 -
5-53247386-C-T ARL15 c.463-64843G>A - IntronicSNV - 4/4
7-132719655-G-C CHCHD3 c.170-10268C>G - IntronicSNV - 2/7
17-67095769-C-T ABCA6 c.3012+1169G>A - IntronicSNV - 22/38
16-83541991-C-T CDH13 c.960+21731C>T - IntronicSNV - 7/13
12-104985443-G-A CHST11 c.119-10241G>A - IntronicSNV - 1/2
6-30858690-G-GG DDR1 c.418-60_418-60dup - IntronicInsertion - 3/16
19-804963-G-A PTBP1 c.717+24G>A - IntronicSNV - 7/14
11-48118374-A-T PTPRJ c.97-13236A>T - IntronicSNV - 1/8
11-48118349-A-AA PTPRJ c.97-13261_97-13261dup - IntronicInsertion - 1/8
5-85916322-G-A COX7C c.*28-163G>A - intron_variant - 2/2
2-240007544-C-T HDAC4 c.2430-1606G>A - IntronicSNV - 19/26
17-29861987-C-T RAB11FIP4 c.*3237C>T - 3-UTRSNV 15/15 -
14-65511486-G-T CHURC1-FNTB c.817+325G>T - IntronicSNV - 10/12
15-93447674-A-G CHD2 c.62+3145A>G - IntronicSNV - 2/38
15-93447674-A-T CHD2 c.62+3145A>T - IntronicSNV - 2/38
11-36031695-C-T LDLRAD3 c.47-25958C>T - IntronicSNV - 1/5
11-36031695-C-A LDLRAD3 c.47-25958C>A - IntronicSNV - 1/5
4-99918550-C-G METAP1 c.114+1532C>G - IntronicSNV - 1/10
1-151518284-T-G TUFT1 c.60+5382T>G - IntronicSNV - 1/12
1-33798031-G-C PHC2 c.1759-26C>G - IntronicSNV - 9/13
5-132763335-A-T FSTL4 c.161-26657T>A - IntronicSNV - 3/15
12-57588323-C-T LRP1 c.8068+37C>T - IntronicSNV - 49/88
12-57588323-C-A LRP1 c.8068+37C>A - IntronicSNV - 49/88
5-132763335-A-C FSTL4 c.161-26657T>G - IntronicSNV - 3/15
12-128778686-C-A TMEM132C c.85+26654C>A - IntronicSNV - 1/8
19-47212593-A-G PRKD2 c.511+1571T>C - IntronicSNV - 3/17
X-113997746-G-A HTR2C c.349+31730G>A - IntronicSNV - 4/5
X-1412821-C-G CSF2RA c.647-400C>G - IntronicSNV - 8/13
15-99327719-A-G IGF1R c.640+76383A>G - IntronicSNV - 2/20
4-8007104-G-C ABLIM2 c.1618+2682C>G - IntronicSNV - 16/20
18-6374387-A-C L3MBTL4 c.-91+40413T>G - intron_variant - 1/19
22-29729163-C-A AP1B1 c.2309+1091G>T - IntronicSNV - 17/22
17-79099125-G-A AATK c.447-311C>T - IntronicSNV - 6/12
17-79099125-G-C AATK c.447-311C>G - IntronicSNV - 6/12
10-35368561-C-A CUL2 c.1-8316G>T - IntronicSNV - 1/20
2-32860356-C-G TTC27 c.396+1284C>G - IntronicSNV - 3/19
1-224585958-A-C WDR26 c.1645-30T>G - IntronicSNV - 11/13
5-14826085-C-T ANKH c.96+45376G>A - IntronicSNV - 1/11
9-131007001-C-T DNM1 c.1672-1672C>T - IntronicSNV - 15/21
10-98901444-G-C SLIT1 c.413+16131C>G - IntronicSNV - 4/36
12-120151493-T-C CIT c.4181-40A>G - IntronicSNV - 32/46
3-55886574-A-T ERC2 c.2564+35843T>A - IntronicSNV - 14/17
8-100548917-C-T VPS13B c.4820+15679C>T - IntronicSNV - 30/61
4-7461827-C-CCAC SORCS2 c.548+63745_548+63746insCAC - IntronicInsertion - 2/26
19-47212593-A-T PRKD2 c.511+1571T>A - IntronicSNV - 3/17
9-139781254-C-T TRAF2 c.-29+261C>T - intron_variant - 1/10
1-233759918-T-C KCNK1 c.355+9646T>C - IntronicSNV - 1/2
1-23046083-C-T EPHB2 c.61+8547C>T - IntronicSNV - 1/15
17-79099122-C-A AATK c.447-308G>T - IntronicSNV - 6/12
4-1988116-G-A NELFA c.648C>T - synonymous_variant 5/11 -
3-183959219-T-A VWA5B2 c.3180+27T>A - IntronicSNV - 18/18
20-61870162-A-C BIRC7 c.577+196A>C - IntronicSNV - 4/6
4-7461826-C-CACC SORCS2 c.548+63744_548+63745insACC - IntronicInsertion - 2/26
9-131007001-C-G DNM1 c.1672-1672C>G - IntronicSNV - 15/21
22-46156404-C-G ATXN10 c.1173+19986C>G - IntronicSNV - 9/11
2-132248740-C-G MZT2A c.319+709G>C - IntronicSNV - 2/2
2-132248740-C-T MZT2A c.319+709G>A - IntronicSNV - 2/2
17-29861933-G-A RAB11FIP4 c.*3183G>A - 3-UTRSNV 15/15 -
4-8007066-C-T ABLIM2 c.1618+2720G>A - IntronicSNV - 16/20
18-47013790-C-T RPL17-C18orf32 c.507+1939G>A - IntronicSNV - 5/6
12-120151493-T-G CIT c.4181-40A>C - IntronicSNV - 32/46
1-53400625-C-T SCP2 c.70-6843C>T - IntronicSNV - 1/15
1-154948192-T-C CKS1B c.59+912T>C - IntronicSNV - 1/2
13-98860827-G-C FARP1 c.1-4670G>C - IntronicSNV - 1/26
4-113569680-C-T LARP7 c.1142+690C>T - IntronicSNV - 8/12
2-11680759-A-G GREB1 c.-162+6379A>G - intron_variant - 1/32
2-103048780-C-T IL18RAP c.580-4892C>T - IntronicSNV - 5/11
2-47604866-C-T EPCAM c.555+650C>T - IntronicSNV - 5/8
10-126721419-T-C CTBP2 c.58+6147A>G - IntronicSNV - 3/10
10-98901459-G-A SLIT1 c.413+16116C>T - IntronicSNV - 4/36
10-98901459-G-T SLIT1 c.413+16116C>A - IntronicSNV - 4/36
2-69330824-G-A ANTXR1 c.802+752G>A - IntronicSNV - 10/17
4-113569207-G-A LARP7 c.1142+217G>A - IntronicSNV - 8/12
4-113569207-G-T LARP7 c.1142+217G>T - IntronicSNV - 8/12
10-53059349-A-G PRKG1 c.433+146259A>G - IntronicSNV - 2/17
13-115010026-G-A CDC16 c.768-339G>A - IntronicSNV - 8/18
10-127508379-G-A UROS c.-27+3219C>T - intron_variant - 1/9
2-54076326-T-C GPR75-ASB3 c.101+10639A>G - IntronicSNV - 1/9
1-241295617-G-A RGS7 c.79-33555C>T - IntronicSNV - 2/17
7-102046219-C-T PRKRIP1 c.392+1089C>T - IntronicSNV - 4/5
12-109230729-G-A SSH1 c.111-13592C>T - IntronicSNV - 2/14
5-168690664-C-G SLIT3 c.198-12201G>C - IntronicSNV - 1/35
10-105978581-C-G CFAP43 c.417-4397G>C - IntronicSNV - 3/37
2-132248740-C-A MZT2A c.319+709G>T - IntronicSNV - 2/2
10-115923237-G-C CCDC186 c.1-210C>G - IntronicSNV 1/16 -
3-123851830-A-G KALRN c.67+38079A>G - IntronicSNV - 1/33
7-99691652-C-T MCM7 c.1320+144G>A - IntronicSNV - 12/13
7-99691652-C-A MCM7 c.1320+144G>T - IntronicSNV - 12/13
12-109230729-G-T SSH1 c.111-13592C>A - IntronicSNV - 2/14
9-36893504-G-A PAX5 c.910+29848C>T - IntronicSNV - 7/8
16-67236292-C-T ELMO3 c.1262-8C>T - splice_region_variant,intron_variant - 13/19
17-13446924-G-A HS3ST3A1 c.600-46789C>T - IntronicSNV - 1/1
22-20073323-C-G DGCR8 c.1-164C>G - 5-UTRSNV 2/13 -
2-240227178-C-T HDAC4 c.22+47195G>A - IntronicSNV - 2/26
1-201688732-C-T NAV1 c.1226+849C>T - IntronicSNV - 3/29
3-50210836-C-T SEMA3F c.113-390C>T - IntronicSNV - 2/18
4-343998-T-C ZNF141 c.226+5779T>C - IntronicSNV - 3/3
22-20236701-C-A RTN4R c.23-6068G>T - IntronicSNV - 1/1
6-157950175-G-T ZDHHC14 c.246-13442G>T - IntronicSNV - 1/8
X-109325434-C-T TMEM164 c.440+14810C>T - IntronicSNV - 3/6
17-35391051-G-A AATF c.1619+2069G>A - IntronicSNV - 11/11
8-41128620-C-T SFRP1 c.623-5612G>A - IntronicSNV - 2/2
11-94199710-C-A MRE11 c.1098+1269G>T - IntronicSNV - 10/19
10-112657881-A-T PDCD4 c.*35A>T - 3-UTRSNV 12/12 -
5-92956422-G-C FAM172A c.*271C>G - 3-UTRSNV 11/11 -
7-114293468-G-A FOXP2 c.1183-513G>A - IntronicSNV - 9/16
5-92956422-G-T FAM172A c.*271C>A - 3-UTRSNV 11/11 -
20-61870167-C-A BIRC7 c.577+201C>A - IntronicSNV - 4/6
9-126164871-C-T DENND1A c.1578-680G>A - IntronicSNV - 20/20
2-241395500-A-G GPC1 c.167-2947A>G - IntronicSNV - 1/8
4-113569695-T-G LARP7 c.1142+705T>G - IntronicSNV - 8/12
20-33578202-G-A MYH7B c.2103+89G>A - IntronicSNV - 22/44
8-117886991-T-G RAD21 c.-174A>C - 5_prime_UTR_variant 1/14 -
18-6374394-A-G L3MBTL4 c.-91+40406T>C - intron_variant - 1/19
2-239990549-T-C HDAC4 c.2736-246A>G - IntronicSNV - 22/26
11-94199735-A-T MRE11 c.1098+1244T>A - IntronicSNV - 10/19
2-97464057-C-T CNNM4 c.1681+673C>T - IntronicSNV - 3/6
7-73605599-C-T EIF4H c.469+963C>T - IntronicSNV - 5/6
9-95290277-G-C CENPP c.565-83319G>C - IntronicSNV - 5/7
9-95290277-G-A CENPP c.565-83319G>A - IntronicSNV - 5/7
12-120151527-C-T CIT c.4181-74G>A - IntronicSNV - 32/46
9-126164871-C-A DENND1A c.1578-680G>T - IntronicSNV - 20/20
9-126164871-C-G DENND1A c.1578-680G>C - IntronicSNV - 20/20
2-189997816-C-G COL5A2 c.98-22641G>C - IntronicSNV - 1/53
11-61559981-C-T TMEM258 c.3+47G>A - IntronicSNV - 1/3
11-94199691-T-G MRE11 c.1098+1288A>C - IntronicSNV - 10/19
11-94199691-T-C MRE11 c.1098+1288A>G - IntronicSNV - 10/19
20-61151515-G-A MIR1-1HG c.8+643G>A - IntronicSNV - 2/3
9-18573374-G-T ADAMTSL1 c.238-654G>T - IntronicSNV - 3/28
5-134263765-C-T PCBD2 c.216+17609C>T - IntronicSNV - 2/3
1-17604454-G-A PADI3 c.1555+1083G>A - IntronicSNV - 13/15
19-46178217-G-A GIPR c.633+133G>A - IntronicSNV - 7/13
14-65511443-C-A CHURC1-FNTB c.817+282C>A - IntronicSNV - 10/12
1-167967904-G-C DCAF6 c.904-3816G>C - IntronicSNV - 7/19
1-167967904-G-A DCAF6 c.904-3816G>A - IntronicSNV - 7/19
3-170824453-A-C TNIK c.2406+519T>G - IntronicSNV - 21/32
5-140027435-C-T IK c.1-59C>T - 5-UTRSNV 1/20 -
7-73605578-A-G EIF4H c.469+942A>G - IntronicSNV - 5/6
1-154948195-G-C CKS1B c.59+915G>C - IntronicSNV - 1/2
14-65511421-G-T CHURC1-FNTB c.817+260G>T - IntronicSNV - 10/12
11-48118365-T-G PTPRJ c.97-13245T>G - IntronicSNV - 1/8
18-70520606-G-A NETO1 c.466+5455C>T - IntronicSNV - 4/4
18-70520606-G-T NETO1 c.466+5455C>A - IntronicSNV - 4/4
1-209796849-C-G LAMB3 c.2358+1G>C - IntronicSNV - 16/22
19-50436371-G-A ATF5 c.*22G>A - 3-UTRSNV 3/3 -
15-35664559-C-A DPH6 c.751-155G>T - IntronicSNV - 8/8
9-20411214-A-G MLLT3 c.1125+2505T>C - IntronicSNV - 5/10
7-102106224-A-G LRWD1 c.81-40A>G - IntronicSNV - 1/14
4-40504123-T-C RBM47 c.-155+13761A>G - intron_variant - 1/4
17-29861988-G-A RAB11FIP4 c.*3238G>A - 3-UTRSNV 15/15 -
15-49461330-G-A GALK2 c.20+13117G>A - IntronicSNV - 1/9
3-10436194-C-G ATP2B2 c.782-6108G>C - IntronicSNV - 5/19
10-115923237-G-T CCDC186 c.1-210C>A - IntronicSNV 1/16 -
5-92956420-C-T FAM172A c.*273G>A - 3-UTRSNV 11/11 -
10-115923237-G-A CCDC186 c.1-210C>T - IntronicSNV 1/16 -
10-105807909-C-T COL17A1 c.2228-47G>A - IntronicSNV - 29/55
3-15537764-C-A COLQ c.107-6620G>T - IntronicSNV - 1/16
6-30858714-C-A DDR1 c.418-36C>A - IntronicSNV - 3/16
12-104985443-G-C CHST11 c.119-10241G>C - IntronicSNV - 1/2
9-139781193-G-A TRAF2 c.-29+200G>A - intron_variant - 1/10
9-139781193-G-T TRAF2 c.-29+200G>T - intron_variant - 1/10
10-131641576-G-A EBF3 c.1102-110C>T - IntronicSNV - 11/15
11-118889714-G-A TRAPPC4 c.175+34G>A - IntronicSNV - 1/4
2-207647981-C-T FASTKD2 c.1428-3476C>T - IntronicSNV - 7/11
5-92956420-C-G FAM172A c.*273G>C - 3-UTRSNV 11/11 -
2-54076276-C-T GPR75-ASB3 c.101+10689G>A - IntronicSNV - 1/9
5-54466362-T-C CDC20B c.126+2054A>G - IntronicSNV - 2/11
20-62551160-G-A DNAJC5 c.1-8539G>A - IntronicSNV - 1/4
2-69330825-A-T ANTXR1 c.802+753A>T - IntronicSNV - 10/17
3-47891117-T-C DHX30 c.3192-3T>C - IntronicSNV - 20/21
15-31357301-C-T TRPM1 c.724+978G>A - IntronicSNV - 6/26
16-88535359-C-T ZFPM1 c.40+15273C>T - IntronicSNV - 1/9
7-2566764-T-C LFNG c.687-16T>C - IntronicSNV - 8/8
9-20411169-G-A MLLT3 c.1125+2550C>T - IntronicSNV - 5/10
17-66420592-A-T WIPI1 c.1293+1624T>A - IntronicSNV - 12/12
7-127721971-G-T SND1 c.2110+418G>T - IntronicSNV - 18/23
8-104166904-CC-CCCC BAALC c.160+13619_160+13620dup - IntronicInsertion - 1/1
1-100746814-A-G RTCA c.838+3942A>G - IntronicSNV - 9/11
2-47604893-T-A EPCAM c.555+677T>A - IntronicSNV - 5/8
6-166922916-A-G RPS6KA2 c.379+849T>C - IntronicSNV - 4/20
3-197401371-C-T RUBCN c.*518G>A - 3-UTRSNV 21/21 -
12-47581629-T-C PCED1B c.-525-28376T>C - intron_variant - 2/3
8-101036259-A-G RGS22 c.2166+14900T>C - IntronicSNV - 14/27
17-62497426-C-T DDX5 c.1217-535G>A - IntronicSNV - 11/12
2-239990528-G-T HDAC4 c.2736-225C>A - IntronicSNV - 22/26
9-137271318-C-A RXRA c.29-22160C>A - IntronicSNV - 1/9
13-98860816-C-G FARP1 c.1-4681C>G - IntronicSNV - 1/26
17-46233806-A-G SKAP1 c.978+6025T>C - IntronicSNV - 11/12
19-50436371-G-C ATF5 c.*22G>C - 3-UTRSNV 3/3 -
7-150935562-T-C CHPF2 c.2114T>C p.Met705Thr Missense 4/4 -
14-65511429-G-A CHURC1-FNTB c.817+268G>A - IntronicSNV - 10/12
10-53059356-A-G PRKG1 c.433+146266A>G - IntronicSNV - 2/17
5-168195174-G-A SLIT3 c.1459+4612C>T - IntronicSNV - 14/35
19-10341137-G-A S1PR2 c.-43+743C>T - intron_variant - 1/1
13-98860808-T-C FARP1 c.1-4689T>C - IntronicSNV - 1/26
10-112657849-A-G PDCD4 c.*3A>G - 3-UTRSNV 12/12 -
10-112657849-A-C PDCD4 c.*3A>C - 3-UTRSNV 12/12 -
13-98860808-T-G FARP1 c.1-4689T>G - IntronicSNV - 1/26
5-54468150-A-G CDC20B c.126+266T>C - IntronicSNV - 2/11
14-55344901-C-T GCH1 c.344-12747G>A - IntronicSNV - 1/5
14-101351088-A-C RTL1 c.38T>G p.Met13Arg Missense 1/1 -
2-189997834-G-A COL5A2 c.98-22659C>T - IntronicSNV - 1/53
1-3044591-G-A PRDM16 c.38-58098G>A - IntronicSNV - 1/16
15-42491848-A-C VPS39 c.139+246T>G - IntronicSNV - 2/24
8-92217753-G-A LRRC69 c.933+4733G>A - IntronicSNV - 7/7
11-10529822-A-G MTRNR2L8 c.1-49T>C - 5-UTRSNV 1/1 -
14-94414575-C-T ASB2 c.881-709G>A - IntronicSNV - 6/9
1-201688733-G-A NAV1 c.1226+850G>A - IntronicSNV - 3/29