Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHMP2B_chr3_87222309_87260556	87252470	C C	CAGTGACT others(45): Show CAGTGACTTTGCCCAGGCCATTCCATTTATGTATCTCTGTGTGGTTAAAC CCT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	414	0.0024	52	c.425 others(67): Show c.425-932_425-881dupGTGACTTTGCCCAGGCCATTCCATTTATGT ATCTCTGTGTGGTTAAACCCTA	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRDL1_chrX_110668856_110800817	110689544	C C	CTCTATAT others(45): Show CTCTATATATCTATATATCTATATATATCTATATATCTATATATCTATAT ATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18940.hp1 homoSapiens_chm13v2.hp1 HG01358.hp1 NA18940.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019	a0001c0001t0005g0089 a0001c0001t0015g0146 a0001c0001t0019g0137 a0001c0001t0005g0089 a0001c0001t0015g0146 a0001c0001t0019g0137	3	172	0.0174	52	c.779 others(67): Show c.779-742_779-741insTATATATAGATATATAGATATATAGATATA TATAGATATATAGATATATAGA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689544	C C	CTCTATAT others(45): Show CTCTATATATCTATATATCTCTATATATCTATATATCTATATATCTATAT ATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0113 a0001c0001t0039g0113	1	172	0.0058	52	c.779 others(67): Show c.779-742_779-741insTATATATAGATATATAGATATATAGATATA TAGAGATATATAGATATATAGA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689606	C C	CTATATAT others(45): Show CTATATATCTATATATCTATATATATCTATATATCTATATATCTATATAT CTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18966.hp1 NA19082.hp1 HG01943.hp1 NA18966.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0084 a0001c0001t0002g0085 a0001c0001t0005g0070 a0001c0001t0001g0084 a0001c0001t0002g0085 a0001c0001t0005g0070	3	172	0.0174	52	c.779 others(67): Show c.779-804_779-803insTAGATATATAGATATATAGATATATAGATA TATATAGATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689606	C C	CTATATAT others(45): Show CTATATATCTATATATCTATATATCTATATATATCTATATATCTATATAT CTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG00741.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0158 a0001c0001t0010g0054 a0001c0001t0005g0158 a0001c0001t0010g0054	2	172	0.0116	52	c.779 others(67): Show c.779-804_779-803insTAGATATATAGATATATAGATATATATAGA TATATAGATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689770	T T	TATCTATA others(45): Show TATCTATATATCTATATATCTATATATATCTATATATCTATATATATCTA TAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	172	0.0058	52	c.779 others(67): Show c.779-968_779-967insGTATAGATATATATAGATATATAGATATAT ATAGATATATAGATATATAGAT	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRM3_chr1_239381568_239920450	239684748	G G	GAGAAAGA others(45): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0089 a0001c0001t0034g0089	1	116	0.0086	52	c.-14 others(71): Show c.-147+6483_-147+6484insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA1_chr2_174742592_174769472	174768215	C C	CAAACATA others(45): Show CAAACATATACAATAAATTATATATGTAAACATATACAATAAATTATATA TGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	370	0.0027	52	c.-38 others(63): Show c.-3873_-3822dupACATATATAATTTATTGTATATGTTTACATATAT AATTTATTGTATATGTTT	CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding		3744		chr2	TogoVar
CIB1_chr15_90224975_90238941	90226428	C C	CCAAGAAA others(45): Show CCAAGAAAACCAAAATAACATAACAACAGAAATAAAGACAGATATCACAA CAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	52	c.40 others(63): Show c.4055_*4056insATGTTGTGATATCTGTCTTTATTTCTGTTGTTAT GTTATTTTGGTTTTCTTG	CIB1	ENSG00000185043.13	transcript	ENST00000328649.11	protein_coding		3546		chr15	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(45): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0097 a0011c0020t0001g0097	1	372	0.0027	52	c.111 others(69): Show c.1113+220_1113+221insTATATATATATATATATATATATATATA TATATATATATATATATATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATACACACACA CAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp2 NA19012.hp1 HG00544.hp2 HG02080.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0166 a0001c0001t0002g0245 a0001c0001t0002g0247	3	372	0.0081	52	c.111 others(69): Show c.1113+207_1113+208insGTGTGTGTGTGTATATATATATATATAT ATATATATATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CLCA4_chr1_86542078_86585754	86554065	G G	GTTATTTT others(45): Show GTTATTTTTTTTCTTTTTTTATCTTTTATTTTTTTATTCTTTTTTTATAT TGT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0174 a0001c0008t0001g0174	1	334	0.0030	52	c.160 others(69): Show c.160-5865_160-5864insATTTTTTTTCTTTTTTTATCTTTTATTT TTTTATTCTTTTTTTATATTGTTT	CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCN4_chrX_10151975_10242660	10216897	G G	GTGTATAT others(45): Show GTGTATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0042 a0001c0002t0018g0042	1	264	0.0038	52	c.197 others(71): Show c.1975+2819_1975+2820insGTATATATATATATATATATATATAT ATATATATATATATATATATATATAT	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLDN16_chr3_190383163_190417138	190409167	T T	TGTATATG others(45): Show TGTATATGCATGTATATATGCACACACGTATATGCATGTATATATGCACA CAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00609.hp2 others(9): Show HG00408.hp1 HG00597.hp2 HG00609.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02129.hp1 NA18957.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0183	12	438	0.0274	52	c.574 others(67): Show c.574+680_574+681insGCACACACGTATATGCATGTATATATGCAC ACACGTATATGCATGTATATAT	CLDN16	ENSG00000113946.4	transcript	ENST00000264734.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLDN16_chr3_190383163_190417138	190409245	C C	CGTATATG others(45): Show CGTATATGCATGTATATATGCACACACGTATATGCATGTATATATGCACA CAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	438	0.0023	52	c.575 others(67): Show c.575-633_575-632insCGTATATGCATGTATATATGCACACATGTA TATGCATGTATATATGCACACA	CLDN16	ENSG00000113946.4	transcript	ENST00000264734.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLDN16_chr3_190383163_190417138	190409253	C C	CATGTATA others(45): Show CATGTATATATGCACACACGTATATGCATGTATATATGCACACATGTATA TGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp2 HG03486.hp2 HG02486.hp2 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0030 a0001c0001t0012g0030	3	438	0.0069	52	c.575 others(67): Show c.575-633_575-632insCGTATATGCATGTATATATGCACACATGTA TATGTATGTATATATGCACACA	CLDN16	ENSG00000113946.4	transcript	ENST00000264734.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLINT1_chr5_157780747_157864145	157862300	T T	TGGGGGGG others(45): Show TGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGG GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	340	0.0029	52	c.-33 others(63): Show c.-3331_-3330insCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCC ACCCCCCCCCCCCCCCCC	CLINT1	ENSG00000113282.14	transcript	ENST00000411809.7	protein_coding		3156		chr5	TogoVar
CLMN_chr14_95176940_95324908	95245240	A A	ATATATAT others(45): Show ATATATATATATTATATATATATATATTATATATATATATAATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0075 a0001c0003t0014g0075	1	276	0.0036	52	c.83- others(69): Show c.83-15108_83-15107insATATATATATATTATATATATATATAAT ATATATATATATAATATATATATA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(45): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGA AGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	254	0.0039	52	c.28+ others(69): Show c.28+44432_28+44433insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(45): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18950.hp1 HG02970.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0070 a0001c0001t0062 a0001c0001t0070	a0001c0001t0062g0266 a0001c0001t0070g0121 a0001c0001t0062g0266 a0001c0001t0070g0121	2	320	0.0063	52	c.602 others(69): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAGGAAGGAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(45): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	320	0.0031	52	c.602 others(69): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAAGGAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(45): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0242 a0001c0001t0005g0242	1	320	0.0031	52	c.602 others(69): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGGAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654384	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	320	0.0031	52	c.11+ others(69): Show c.11+13474_11+13475insATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLSTN2_chr3_139930185_140582397	139955112	C C	CTATATAT others(45): Show CTATATATATATATATATATATATGGCAATATTGCTATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG06807.hp1 HG03098.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0045 a0001c0001t0036g0044 a0001c0001t0001g0045 a0001c0001t0036g0044	2	110	0.0182	52	c.109 others(71): Show c.109+19652_109+19653insGGCAATATTGCTATATATATATATAT ATATATATATATATATATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140419837	A A	ATGTATAT others(45): Show ATGTATATACGTATATATACATATATATGTATATGTATATACGTGTATAC GTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	110	0.0091	52	c.638 others(69): Show c.638-1287_638-1286insGTATATACGTATATATACATATATATGT ATATGTATATACGTGTATACGTGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUH_chr17_2684387_2716764	2691984	G G	GCCCCGCC others(45): Show GCCCCGCCCCGCCCCCGCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCC CGC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	420	0.0024	52	c.365 others(67): Show c.3654+19_3654+20insGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG GCGGGGCGGGGGCGGGGCGGGG	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAGAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAA AAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	414	0.0024	52	c.424 others(65): Show c.424-67_424-66insGAAAGAAAGAAAGAGAGAGAAAAGAAGAAAGA GAAAGAAAGAAAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CMC2_chr16_80961448_81011885	80965195	A A	ATATATAT others(45): Show ATATATATATGCATATATATATATGTATATATATATATACATATATATAT ATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0063 a0002c0002t0063	a0002c0002t0063g0163 a0002c0002t0063g0163	1	408	0.0025	52	c.10 others(65): Show c.10897_*10898insCATATATATATATGTATATATATATATACATA TATATATATGCATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1252		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(45): Show CTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTTCTTTC TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0047 a0047	a0047c0071 a0047c0071	a0047c0071t0006 a0047c0071t0006	a0047c0071t0006g0148 a0047c0071t0006g0148	1	360	0.0028	52	c.43 others(63): Show c.4364_*4365insAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGGA AAGAAAGAAAGAAAGAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(45): Show GACACACACACACACACACACACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04199.hp2 HG03491.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0308 a0001c0001t0008g0307 a0001c0001t0001g0308 a0001c0001t0008g0307	2	328	0.0061	52	c.5+2 others(63): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNTN4_chr3_2093866_3062959	2400414	T T	TATATATA others(45): Show TATATATATATATATATATACATATATATATATATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0115 a0001c0001t0005g0115	1	116	0.0086	52	c.-89 others(71): Show c.-89+61194_-89+61195insTATATACATATATATATATATATATA TATATATATATACATATATATATATA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2400418	T T	TATATATA others(45): Show TATATATATATATATACATATATATATATATATATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0002t0004g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0002t0004g0017	3	116	0.0259	52	c.-89 others(71): Show c.-89+61194_-89+61195insTATATACATATATATATATATATATA TATATATATATATATACATATATATA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2400429	A A	ATACATAT others(45): Show ATACATATATATATATATATATATATATATACATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0036	1	116	0.0086	52	c.-89 others(71): Show c.-89+61198_-89+61199insCATATATATATATATATATATATATA TACATATATATATATATATATATGTA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245302	A A	ATATATAT others(45): Show ATATATATAACATATATATATATAACATATATATATATAACATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0087 a0001c0008t0001g0087	1	232	0.0043	52	c.358 others(71): Show c.358+17317_358+17318insACATATATATATATAACATATATATA TATAACATATATATATATTATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	148331768	T T	TGGATGGA others(45): Show TGGATGGAATGGTCAGATGGAGTGGATGGATAGAGTGGATGGATGGAACG GAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0015 a0001c0019t0006g0015	1	40	0.0250	52	c.347 others(73): Show c.3476-51870_3476-51869insTCAGATGGAGTGGATGGATAGAGT GGATGGATGGAACGGACGGATGGAATGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934112	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATACACA CAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	108	0.0093	52	c.223 others(71): Show c.2237+4131_2237+4132insGTGTGTGTATATATATATATATATAT ATATATATATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(45): Show CATATGTGTGTGTGTATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0011 a0006c0007t0011	a0006c0007t0011g0017 a0006c0007t0011g0017	1	108	0.0093	52	c.197 others(71): Show c.197-13722_197-13721insATATATATATATATATATATATATAT ATATATATATATACACACACACATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76470482	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01928.hp1 HG02280.hp1 others(5): Show HG01433.hp1 HG01928.hp1 HG02280.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA19082.hp1 NA19082.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0004c0007 a0004c0010 a0006c0009	a0001c0001t0004 a0001c0004t0001 a0002c0002t0002 others(4): Show a0001c0001t0004 a0001c0004t0001 a0002c0002t0002 a0002c0002t0010 a0004c0007t0004 a0004c0010t0002 a0006c0009t0004	a0001c0001t0004g0053 a0001c0004t0001g0121 a0001c0004t0001g0170 others(5): Show a0001c0001t0004g0053 a0001c0004t0001g0121 a0001c0004t0001g0170 a0002c0002t0002g0206 a0002c0002t0010g0204 a0004c0007t0004g0055 a0004c0010t0002g0086 a0006c0009t0004g0273	8	274	0.0292	52	c.165 others(71): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATATATATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124431547	T T	TATTATAT others(45): Show TATTATATATAATTTCTTTATATAAACATTATATATAATTTCTTTATATA AAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	64	0.0156	52	c.530 others(69): Show c.530-2859_530-2808dupCATTATATATAATTTCTTTATATAAACA TTATATATAATTTCTTTATATAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510301	C C	CTATATCT others(45): Show CTATATCTATATATCTATATATCTATATATCTATATATATATCTATATAT CTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp1 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0022 a0001c0001t0002g0023	2	64	0.0313	52	c.132 others(71): Show c.1327+5750_1327+5751insCTATATATCTATATATCTATATATCT ATATATATATCTATATATCTATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(45): Show CTTTTTCTTTTTCTCTTTGTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA21309.hp1 HG00423.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0019 a0001c0001t0003g0057 a0001c0001t0002g0019 a0001c0001t0003g0057	2	64	0.0313	52	c.175 others(71): Show c.1756+8209_1756+8210insCTTTTTCTCTTTGTTTTCTTTTTTCT TTTTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805330	T T	TATATATA others(45): Show TATATATATATATTTATATATATATATATATATATTTATATATATATATA TAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0028 a0001c0002t0013g0028	1	212	0.0047	52	c.41+ others(69): Show c.41+35825_41+35826insTTATATATATATATATAAATATATATAT ATATATATATAAATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805330	T T	TATATATA others(45): Show TATATATATATTTATATATATATATATATATATATTTATATATATATATA TAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02622.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0051 a0001c0002t0013 a0001c0002t0051	a0001c0002t0013g0053 a0001c0002t0051g0003 a0001c0002t0013g0053 a0001c0002t0051g0003	2	212	0.0094	52	c.41+ others(69): Show c.41+35825_41+35826insTTATATATATATATATAAATATATATAT ATATATATATATAAATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805330	T T	TATATATA others(45): Show TATATATATTTATATATATATATATATATATATATTTATATATATATATA TAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0048 a0003c0007t0006g0048	1	212	0.0047	52	c.41+ others(69): Show c.41+35825_41+35826insTTATATATATATATATAAATATATATAT ATATATATATATATAAATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805332	T T	TATATATT others(45): Show TATATATTTATATATATATATATATATATTTATATATATATATATAAATA TAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0004 a0001c0002t0021g0004	1	212	0.0047	52	c.41+ others(69): Show c.41+35823_41+35824insTTATATTTATATATATATATATAAATAT ATATATATATATATATAAATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805341	A A	ATATATAT others(45): Show ATATATATATATAAATATATATACATATATATAAATATATATAAATATAT ATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0018 a0018	a0018c0034 a0018c0034	a0018c0034t0032 a0018c0034t0032	a0018c0034t0032g0024 a0018c0034t0032g0024	1	212	0.0047	52	c.41+ others(69): Show c.41+35814_41+35815insAATATATATTTATATATATTTATATATA TGTATATATATTTATATATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818272	G G	GTATGTAT others(45): Show GTATGTATACATATATGTATGTATACATATGTATACATATATGTATGTAT ACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02258.hp2 others(10): Show HG01243.hp1 HG01255.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02922.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03704.hp1 HG03831.hp1 HG04228.hp1 NA18965.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0056 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0056 a0001c0002t0001 a0001c0002t0021 a0001c0002t0049 a0002c0003t0003 a0002c0003t0053 a0003c0007t0006 a0003c0007t0061	a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0071 others(10): Show a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0056g0032 a0001c0002t0001g0051 a0001c0002t0021g0004 a0001c0002t0021g0006 a0001c0002t0049g0005 a0002c0003t0003g0025 a0002c0003t0053g0031 a0003c0007t0006g0048 a0003c0007t0006g0050 a0003c0007t0061g0049	13	212	0.0613	52	c.41+ others(69): Show c.41+22883_41+22884insTGTATACATACATATATGTATACATATG TATACATACATATATGTATACATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COG3_chr13_45459939_45541701	45513374	C C	CATATAAT others(45): Show CATATAATATATACATATAAATTATATATATAATATATACATATAAATTA TAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02165.hp1 NA18950.hp1 others(7): Show HG02074.hp1 HG02165.hp1 NA18950.hp1 NA18979.hp1 NA18982.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19010.hp2 NA19087.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0016 a0002c0004t0001g0017 others(5): Show a0002c0004t0001g0001 a0002c0004t0001g0016 a0002c0004t0001g0017 a0002c0004t0001g0023 a0002c0004t0001g0024 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0033	10	342	0.0292	52	c.180 others(71): Show c.1809+1545_1809+1546insTATATAATATATACATATAAATTATA TATATAATATATACATATAAATTATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706199	T T	TTATATAT others(45): Show TTATATATATACTCCTTTATATATATATATATATATATACTCCTTTATAT ATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19043.hp2 HG03453.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0003g0228 a0002c0002t0003g0229	2	370	0.0054	52	c.128 others(71): Show c.1284+6611_1284+6612insTATATATACTCCTTTATATATATATA TATATACTCCTTTATATATATATATA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A2_chr6_33157694_33197467	33164479	A A	AGGAGAGA others(45): Show AGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGA GGG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp2 HG03017.hp2 HG02738.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	367	0.0055	52	c.486 others(66): Show c.4864-58_4864-7dupCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTC TGAGGCCAGCCCTCTCTCTCC	COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	64/65			chr6	TogoVar

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