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
UCN3_chr10_5359966_5379692	5370525	G G	GCGTGTGT others(405): Show GCGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGT GTGTATGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGC GTGTGTATATGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTATATGT GTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTAT GTGTGTGTATGTGTGTGTATATGTGTGTGTGTGTATGTGTGTGTATATGT GTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTAT ATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGT GTGTATGTGTGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGT ATGCGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	301	0.0033	412	c.-6- others(427): Show c.-6-3190_-6-3189insCGTGTGTATATGTGTGTGTGTATGTGTGTG TGTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTG TATGTGTGTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTG TGTATATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATGTGTG TGTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTG TGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTA TATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTGTATGCGTGTGTATG CGTGTGTGTATGTGTGTGTATGCGTGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(405): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATATATTATATATTATATTTATGTAATATATAATATTTATATATTAT ATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATA TTTATATATTATATTTATGTAATATATAATATTTATATATTATATTTATG TAATATATAATATTTATATATTATATTTATGTAATATATAATATTTATAT ATTATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAA TATTTATATATATTTATGTAATATATAATATTTATATATTATATTTATGT AATATATAATATT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0022 a0002c0001t0002g0022	1	59	0.0169	412	c.213 others(431): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATATATAAATATTATATATTACAT AAATATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAAT ATTATATATTACATAAATATAATATATAATATATATTATATATTACATAA ATATAATATATAATATATATTATATATTACATAAATATAATATATAATAT ATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(405): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	301	0.0033	412	c.53+ others(427): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR64_chr1_241647281_241807777	241675092	T T	TCCTCCCT others(405): Show TCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTT CCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCT TCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCTTCCCTCCTTCCCTC CCTTCTTCCTTCCTTCTTCCCTCCCTCCCACCCTCCTTCCTTCTTTCCTT CCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0003	1	322	0.0031	412	c.483 others(427): Show c.483+356_483+357insTCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTTCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCTTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCTTCCCTC CTTCCCTCCCTTCTTCCTTCCTTCTTCCCTCCCTCCCACCCTCCTTCCTT CTTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(405): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0095 a0001c0002t0003g0096	2	26	0.0769	412	c.483 others(427): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(405): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0003 a0003c0024t0003	a0003c0024t0003g0014 a0003c0024t0003g0014	1	25	0.0400	412	c.483 others(427): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(405): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02818.hp2 HG00639.hp2 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0002c0012 a0001c0014 a0002c0012	a0001c0014t0003 a0002c0012t0004 a0001c0014t0003 a0002c0012t0004	a0001c0014t0003g0105 a0002c0012t0004g0283 a0001c0014t0003g0105 a0002c0012t0004g0283	2	26	0.0769	412	c.483 others(427): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFPM1_chr16_88448280_88542031	88460982	G G	GGCGGGGC others(405): Show GGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGG TGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGG CGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGAC CGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCAGAAGGTCTGG TGAGGACCGAGGGGCGGGGCGGGAGGCCCTGGTGAGGACCGAGGGGCGGG AGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAG GGGCGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGA GGACCGAGGGGCGGGGCGGGAGGCCCTGGTGAGGACCGAGGGGCGGGAGG CCTGGTGAGGACC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0007 a0007c0026t0007	a0007c0026t0007g0126 a0007c0026t0007g0126	1	298	0.0034	412	c.40+ others(427): Show c.40+7305_40+7306insCGGGGCGGGAGGCCTGGTGAGGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGT GAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGC GGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACC GAGGGGCAGAAGGTCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCCTGG TGAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGA GGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCCTGGTGAGGACCCAG GGGCAGAAGGTCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCCTGGTGA GGACCGAGGGGCGGGAGGCCTGGTGAGGACCG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF16_chr8_144925358_144955880	144946606	T T	TGGGCCCG others(405): Show TGGGCCCGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCCTGTGTCC TGCTGTGGGGCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGT ACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGG CTGTGTCCTGCTGTGGGGCCTGTACCCTGCTGTGGGCCATACCCTTCTGT GGGCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGC TGTGGGGCTGTGTCCTGCTGTGGGCCCGTGTCCTGCTGTGGGCCTGTGTC CTGCTGTGGGGCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTG TACCCTGCTGTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTGCTGTGG GGCTGTGTCCTGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	290	0.0034	412	c.-9- others(425): Show c.-9-392_-9-391insCCAGGACACAGCCCCACAGCAGGACACAGGCC CAACAGCAGGACACAGGCCCACAGCAGGGTACAGGCCCACAGAAGGGTAT GGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCCACAGCAGG ACACGGGCCCACAGCAGGACACAGCCCCACAGCAGGGTACAGGCCCACAG AAGGGTATGGCCCACAGCAGGGTACAGGCCCACAGAAGGGTATGGCCCAC AGCAGGGTACAGGCCCCACAGCAGGACACAGCCCCACAGCAGGACACAGG CCCACAGCAGGACACAGGCCCACAGCAGGGTACAGGCCCACAGAAGGGTA TGGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCCCACAGCA GGACACAGGCCCACAGCAGGACACGGGCCC	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(405): Show CATATATCATATACATCATATACATCACATATATGATATATACATCATAT ATATCACATATATGATATATATATCATATATATCACATATATGATATATA TCATATATATCACATATATGATATATATATCATATATCACATATATGATA TATATATCATATATATCATATGATATATATCATATATATCACATATATGA TATATATCACATGTGATATATAGCATATATATCATGCTATACATCATATA TGATATATATGATATATATCACGTATGCTATATAGCATATGTGATATATA TGATATATATCACATATGCTATATAGCATACGTGATATATATGATATATA TCACATATGCTATATATCATATGTGATATATATGATATATATCACATATA TGATACATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	30	0.0333	412	c.-36 others(423): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATG ATATATACATCATATATATCACATATATGATATATATATCATATATATCA CATATATGATATATATCATATATATCACATATATGATATATATATCATAT ATCACATATATGATATATATATCATATATATCATATGATATATATCATAT ATATCACATATATGATATATATCACATGTGATATATAGCATATATATCAT GCTATACATCATATATGATATATATGATATATATCACGTATGCTATATAG CATATGTGATATATATGATATATATCACATATGCTATATAGCATACGTGA TATATATGATATATATCACATATGCTATATATCATATGTGATATATATGA TATATATCACATATATGATACATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF573_chr19_37733302_37784586	37751663	C C	CATATATA others(405): Show CATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATA TATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGC ATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATAT ATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCA TATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATATA TACAGTATAGACAGCATATATACTGTGTATAGTACATAGTACCGTATATA TACTGTGTATAGTACATAGTACCGTATATACTGTATATAGTACATAGTAC CGTATATATACTGTATATAGTACATAGTACCGTATATATACTGTATATAG TACATAGTACCGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	204	0.0049	412	c.296 others(431): Show c.296-11470_296-11469insACGGTACTATGTACTATATACAGTAT ATATACGGTACTATGTACTATATACAGTATATATACGGTACTATGTACTA TATACAGTATATACGGTACTATGTACTATACACAGTATATATACGGTACT ATGTACTATACACAGTATATATGCTGTCTATACTGTATATATACACAGTA TATATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTATACT GTATATATACACAGTATATATGCTGTCTATACTGTATATATACACAGTAT ATATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTATACTG TATATATACACAGTATATATGCTGTCTATACTGTATATATACACAGTATA TATGCTGTCTATACTGTATATATACACAGTATATAT	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326617	T T	TCTCACAC others(405): Show TCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCT CACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCCCTCACACAGCC GCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACC CTCAGCCCTCACACAGGCACCCTCACCCTCAGCCTCACACAGGCACCCTC AGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCAG CCCTCACACAGCCGCCCTCACCCTCACCCTCACACAGGCACCCTCAGCCC TCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCA CACAGGCACCCTCAGCCCTCACACAGGCACCCTCACCCTCAGCCTCACAC AGGCACCCTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	285	0.0035	412	c.-54 others(421): Show c.-549_-548insCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCC TCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAG CCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTC TCACACAGGCACCCTCAGCCCTCACACAGGCACCCTCACCCTCAGCCTCA CACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCAC CCTCAGCCCTCAGCCCTCACACAGCCGCCCTCACCCTCACCCTCACACAG GCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCA CCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGGCACCCTCACC CTCAGCCTCACACAGGCACCCTCAGC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		376		chr19	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(406): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGC AGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCCGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0074 a0003c0003t0005g0074	1	282	0.0035	413	c.33+ others(430): Show c.33+13582_33+13583insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC TCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(406): Show GGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0063 a0002c0001t0005g0063	1	236	0.0042	413	c.523 others(432): Show c.523-13463_523-13462insAGAGGGAGACGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(406): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAG GAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGG GAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGAGGAGGGGAAGGG AGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAG GGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	30	0.0333	413	c.51 others(424): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCTTCCCCTCCTCCCCTCC CCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCC TCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTC CCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCC TCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCTCCTCCCCCCTC CCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCT CCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(406): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGA GGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGG GGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAG GGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0032 a0002c0007t0001g0032	1	30	0.0333	413	c.51 others(424): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCCTCTCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCC TCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCT CCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1558606	T T	TGCATGCT others(406): Show TGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCGTGGGTG CTCAGCCCCCCCATGCCCCATCTAAATCCACATCCCACCTCTGCCCCCCT CCGTGGGTGCTCAGCCCCCACACACCCCATCTAAATCTGCATCCCACCTC TGTCCCCTTCTGTGGGTGCTCAGCCCCCACGCACCCCATCTAAATCTGCA TCCCACCTCTGTCCCCTTCTGTGGGTGCTCAGCCCCTGCATGCTCCGTGT AAACTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCAT GCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAG CCCCCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCATG GGTGCTCAGCCCCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0024 a0001c0001t0012g0024	1	62	0.0161	413	c.100 others(434): Show c.100+178444_100+178445insGGGGGCTGAGCACCCATGGAGGGG GGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCACCC ATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGC TGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTACACGGAGCA TGCAGGGGCTGAGCACCCACAGAAGGGGACAGAGGTGGGATGCAGATTTA GATGGGGTGCGTGGGGGCTGAGCACCCACAGAAGGGGACAGAGGTGGGAT GCAGATTTAGATGGGGTGTGTGGGGGCTGAGCACCCACGGAGGGGGGCAG AGGTGGGATGTGGATTTAGATGGGGCATGGGGGGGCTGAGCACCCACGGA GGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1558668	A A	ATGCCCCA others(406): Show ATGCCCCATCTAAATCCACATCCCACCTCTGCCCCCCTCCGTGGGTGCTC AGCCCCCACACACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTG TGGGTGCTCAGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTGT CCCCTTCTGTGGGTGCTCAGCCCCCACGCACCCCATCTAAATCTGCATCC CACCTCTGTCCCCTTCTGTGGGTGCTCAGCCCCTGCATGCTCCGTCTAAA CTCGAATCCCACCTCTGTCCCCTTCTGTGGGTGCTCAGCCCCTGCATGCT CCGTCTAAACTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCC CCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCGTGGGT GCTCAGCACCCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0051 a0001c0001t0051g0051	1	2	0.5000	413	c.100 others(434): Show c.100+178382_100+178383insCGGGGGTGCTGAGCACCCACGGAG GGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCA CCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGACGGAGCATGCAGG GGCTGAGCACCCACAGAAGGGGACAGAGGTGGGATTCGAGTTTAGACGGA GCATGCAGGGGCTGAGCACCCACAGAAGGGGACAGAGGTGGGATGCAGAT TTAGATGGGGTGCGTGGGGGCTGAGCACCCACAGAAGGGGACAGAGGTGG GATGCAGATTTAGATGGGGTGCGTGGGGGCTGAGCACCCACAGAAGGGGA CAGAGGTGGGATGCAGATTTAGATGGGGTGTGTGGGGGCTGAGCACCCAC GGAGGGGGGCAGAGGTGGGATGTGGATTTAGATGGGGCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1558668	A A	ATGCCCCA others(406): Show ATGCCCCATCTAAATCCACATCCCACCTCTGCCCCCCTCCGTGGGTGCTC AGCCCCCACACACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTG TGGGTGCTCAGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTGT CCCCTTCTGTGGGTGCTCAGCCCCTGCATGCTCCGTCTAAACTCAAATCC CACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAA CTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCT CCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCC CCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCGTGGGT GCTCAGCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	2	0.5000	413	c.100 others(434): Show c.100+178382_100+178383insCGGGGGGGCTGAGCACCCACGGAG GGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCA CCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGG GGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGA GCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTTGAGT TTAGACGGAGCATGCAGGGGCTGAGCACCCACAGAAGGGGACAGAGGTGG GATGCAGATTTAGATGGGGTGCGTGGGGGCTGAGCACCCACAGAAGGGGA CAGAGGTGGGATGCAGATTTAGATGGGGTGTGTGGGGGCTGAGCACCCAC GGAGGGGGGCAGAGGTGGGATGTGGATTTAGATGGGGCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1558668	A A	ATGCCCCA others(406): Show ATGCCCCATCTAAATCCACATCCCACCTCTGCCCCCCTCCGTGGGTGCTC AGCCCCCACACACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTG TGGGTGCTCAGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTGT CCCCTTCTGTGGGTGCTCAGCCCCTGCATGCTCCGTCTAAACTCGAATCC CACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAA CTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCT CCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCC CCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCGTGGGT GCTCAGCACCCCCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0047 a0002c0004t0047	a0002c0004t0047g0063 a0002c0004t0047g0063	1	2	0.5000	413	c.100 others(434): Show c.100+178382_100+178383insCGGGGGTGCTGAGCACCCACGGAG GGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCA CCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGG GGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGA GCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGT TTAGACGGAGCATGCAGGGGCTGAGCACCCACAGAAGGGGACAGAGGTGG GATGCAGATTTAGATGGGGTGCGTGGGGGCTGAGCACCCACAGAAGGGGA CAGAGGTGGGATGCAGATTTAGATGGGGTGTGTGGGGGCTGAGCACCCAC GGAGGGGGGCAGAGGTGGGATGTGGATTTAGATGGGGCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1558668	A A	ATGCCCCA others(406): Show ATGCCCCATCTAAATCCACATCCCACCTCTGCCCCCCTCCGTGGGTGCTC AGCCCCCACACACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTG TGGGTGCTCAGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTGT CCCCTTCTGTGGGTGCTCAGCCCCTGCATGCTCCGTCTAAACTCGAATCC CACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAA CTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCT CCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCC CCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCGTGGGT GCTCAGCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02080.hp1 HG02083.hp1 others(2): Show HG01884.hp2 HG02080.hp1 HG02083.hp1 HG02717.hp1 NA18967.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0006 a0002c0002t0008 others(2): Show a0001c0001t0001 a0002c0002t0006 a0002c0002t0008 a0002c0002t0041 a0004c0005t0037	a0001c0001t0001g0078 a0002c0002t0006g0019 a0002c0002t0008g0058 others(2): Show a0001c0001t0001g0078 a0002c0002t0006g0019 a0002c0002t0008g0058 a0002c0002t0041g0074 a0004c0005t0037g0064	5	6	0.8333	413	c.100 others(434): Show c.100+178382_100+178383insCGGGGGGGCTGAGCACCCACGGAG GGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCA CCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGG GGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGA GCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGT TTAGACGGAGCATGCAGGGGCTGAGCACCCACAGAAGGGGACAGAGGTGG GATGCAGATTTAGATGGGGTGCGTGGGGGCTGAGCACCCACAGAAGGGGA CAGAGGTGGGATGCAGATTTAGATGGGGTGTGTGGGGGCTGAGCACCCAC GGAGGGGGGCAGAGGTGGGATGTGGATTTAGATGGGGCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRB3_chr6_68630282_69394506	69100947	A A	AAGGAAGG others(406): Show AAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAA GAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAGAGAGGGAAGA AGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAG GGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGGAAGGAAGGAAGGAGG GAGTGAAGGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACG AAGGAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAGGAAGGGAA GGAAGAAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAAGG GAGGAAGGAAGGAAGAAGGGAGCGAGGGAGGGAAGGAAGGAGCGAGGGAG GGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG02717.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0041 a0001c0002t0004g0051 a0001c0002t0001g0041 a0001c0002t0004g0051	2	33	0.0606	413	c.248 others(434): Show c.2480+24910_2480+24911insGGAAGGAGAGAGGGAAGAAGGCAG GGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGG AAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAA GGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAGGG AAGGAAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAGGCAGGGAGTG AGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAG GGAAGGAAGGAAGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGG AAGGAGGAAGGGAAGGAAGGAAGGGAGGAAGGAAGGAAGAAGGGAGCGAG GGAGGGAAGGAAGGAGCGAGGGAGGGAAGGAAGGAGGGA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(406): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	123	0.0081	413	c.-1- others(428): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(406): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	123	0.0081	413	c.-1- others(428): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144531682	A A	AGGCTAGA others(406): Show AGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCA GCAGGTGGGGAGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	128	0.0078	413	c.298 others(430): Show c.2980+622_2980+623insCACTCCCCACCTGCTGCTCGCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC GCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCAC CTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGC CCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758516	T T	TCACCTGC others(406): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT AACTCATTCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCGA TCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0068 a0002c0068	a0002c0068t0001 a0002c0068t0001	a0002c0068t0001g0091 a0002c0068t0001g0091	1	157	0.0064	413	c.655 others(432): Show c.655-22376_655-22375insGTCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGAT AGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGGGTGGAGCAG GTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
AUTS2_chr7_69593475_70798506	70723689	C C	CGTAGCTC others(406): Show CGTAGCTCTGCTCTTTTTTTTTTTTTTTTTTGTAACATCAAAGTTCTTTT TTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTG TGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCC ACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCC CCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGGTATTCCCCTTCCTGT GTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGG TGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAA TTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTG CATAGTATTCCATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	56	0.0179	413	c.742 others(432): Show c.742+25083_742+25084insTTTTTTTTTTTTTTTTGTAACATCAA AGTTCTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGGTATTCC CCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG AATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGAT GGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTT TTATGGCTGCATAGTATTCCATGGTAGCTCTGCTCTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70723689	C C	CGTAGCTC others(406): Show CGTAGCTCTGCTCTTTTTTTTTTTTTTTTTTTGTAACATCAAAGTTCTTT TTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTG TGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCC ACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCC CCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGGTATTCCCCTTCCTGT GTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGG TGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAA TTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTG CATAGTATTCCATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01243.hp1 others(9): Show HG00280.hp1 HG00597.hp1 HG01243.hp1 HG01934.hp2 HG01952.hp1 HG02165.hp2 HG02717.hp2 HG02886.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp2 NA18612.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0011 a0001c0001 a0001c0003 a0003c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0022 a0001c0001t0032 a0001c0003t0027 a0003c0011t0007	a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0003g0068 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0005g0028 a0001c0001t0008g0063 a0001c0001t0009g0006 a0001c0001t0010g0064 a0001c0001t0022g0031 a0001c0001t0032g0016 a0001c0003t0027g0009 a0003c0011t0007g0004	12	67	0.1791	413	c.742 others(432): Show c.742+25083_742+25084insTTTTTTTTTTTTTTTTTGTAACATCA AAGTTCTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGGTATTCC CCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG AATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGAT GGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTT TTATGGCTGCATAGTATTCCATGGTAGCTCTGCTCTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(406): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	223	0.0045	413	c.36 others(424): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(406): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01070.hp1 others(3): Show HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01261.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0005 a0001c0001t0001g0001 a0001c0002t0001g0005	6	301	0.0199	413	c.36 others(424): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(406): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAG CCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG04184.hp2 HG00099.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	297	0.0067	413	c.36 others(424): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGG CCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTTCCT others(406): Show TCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCTTCCCCCCTTCCTTCC TGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCC CCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCC CCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCC CTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTT CCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTC CCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCC CCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTT TTCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG00140.hp1 HG01167.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0031 a0004c0005t0001g0031	2	397	0.0050	413	c.910 others(428): Show c.910-570_910-569insGCCCCCTTCCCCCTTGCCCCTTCCCCTTCC CCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCC TTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCC TTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTT CCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTT CCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTT CCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCC TGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCC CCCCTTCCCCTTTTCCCCCCTTCCCCCCTTCCT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(406): Show AGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAG GGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGGAG GGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGGAGGGGGA GGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGG GAGGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	254	0.0039	413	c.490 others(432): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGG GGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG GGGGAGGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAG GGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGGAGGGGAGGGGGAGGGGATGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C1QTNF12_chr1_1237453_1251722	1245128	T T	TCTGCCCT others(406): Show TCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCTTC CCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCCCT CCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCTCC CCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTCCT CTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTCCC CCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTCCT CCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACTCC TCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCACTCCTCCCCCA CTCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	326	0.0031	413	c.178 others(428): Show c.178-632_178-631insGGAGGGGAGAGGAGTGGGGGAGGAGTGGGG GAAGAGAGGAGAGGAGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAG GGGAGAGGAGTGGGGGAGGAGTGGGGGGAGTGGGAGGAAGAGGGGAGAGG AGTGGGGAGGAGGGAGATGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGG AGGGGACAGGAGTGGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAG GGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGG AGGAGTGGGGGAGGAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGG GGAGGAGGGAGATGAGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAG TGGGGGGAGGAGGGGGAAGGGGGAGGAGGGCAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C8orf82_chr8_144520733_144534111	144531682	A A	AGGCTAGA others(406): Show AGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCA GCAGGTGGGGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	181	0.0055	413	c.-27 others(424): Show c.-2767_-2766insCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTG CTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2572		chr8	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(406): Show ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0027 a0001c0022t0027	a0001c0022t0027g0358 a0001c0022t0027g0358	1	356	0.0028	413	c.-22 others(430): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(406): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCT CCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCC CTCACCCCTGCGCCCCTCACCCTCCGCCCCTCACCCCCTCCGCCCCCCAC CCCTCCGCCCCCCACCCCTCTGCCCCTCACCCTCCGCCTCTCATCCCTCC GCCCCTCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCCTCCGCCTC TCACCCCTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCC CTCCGCCCCTCACCCCCTCCGCCCCTCACCCCTCCACCCCTCACCCTCTG CCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0131 a0001c0005t0001g0131	1	241	0.0041	413	c.326 others(430): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGGTGAGGGGCGGAGGGATGAGAGGCGGA GGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGAGGCGGAGGGGTG AGGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGG CGGAGGGTGAGGGGCAGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGG GGGTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGG GGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGGCGG AGGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTG GGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(406): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCC CTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	12	0.0833	413	c.-45 others(434): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCC CCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELSR1_chr22_46356174_46542620	46366247	G G	GGGGCAGG others(406): Show GGGGCAGGGAGGGAAGTTGCGGGTGGGAAGAAAGGTGGGGGGGAGGAGAG GTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGA AAGGTGCGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCACGGGGG GGGAGGAGAGGTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGC ACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGG TGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGTGGGGGGAGGAAAG GTGCACGGGGGGGGAGGAGAGGTGCACGGGGGGAGGAAAGGTGCGGGGGG AGGAAAGGTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGG GGGAGGAAAGGTGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0025 a0002c0016t0003g0025	1	83	0.0120	413	c.830 others(430): Show c.8300+138_8300+139insGCACCTTTCCTCCCCCCGCACCTTTCCT CCCCCCGCACCTTTCCTCCCCCCGTGCACCTTTCCTCCCCCCGCACCTTT CCTCCCCCCGTGCACCTCTCCTCCCCCCCCGTGCACCTTTCCTCCCCCCA CACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCC GCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGTGCACCTTTCCTCCC CCCGCACCTTTCCTCCCCCCGTGCACCTCTCCTCCCCCCCCGTGCACCTT TCCTCCCCCCGCACCTTTCCTCCCCCCGCGCACCTTTCCTCCCCCCGCAC CTTTCCTCCCCCCGCACCTTTCCTCCCCCCGTGCACCTCTCCTCCCCCCC ACCTTTCTTCCCACCCGCAACTTCCCTCCCTGCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CFAP46_chr10_132803392_132947570	132888450	T T	TCACCCCT others(406): Show TCACCCCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTTCACC CCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCA CCTTCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCCCTGCCGCCTGT ACCCCTGCCGCCTGCACCCCTGCCACCTGCACCTGCCACCTTCACCCCTG CCGCCTGTACCCCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCGCC TGCACCCCTGCCACCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCC CTGCCACCTTCACCCCTGCTGCCTGCACCCCGCCACCTTCACCCCTGCCG CCTGCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCAGCCTGC ACCCCTGCCGCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0041 a0041	a0041c0077 a0041c0077	a0041c0077t0001 a0041c0077t0001	a0041c0077t0001g0127 a0041c0077t0001g0127	1	229	0.0044	413	c.330 others(432): Show c.3305-2492_3305-2491insCAGGCGGCAGGGGTGCAGGCTGCAGG GGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGA AGGTGGCGGGGTGCAGGCAGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGG CAGGGGTGAAGGTGGCAGGTGCAGGTGGCAGGGGTGCAGGCGGCAGGGGT ACAGGCGGCAGGGGTGAAGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGG TGGCAGGTGCAGGTGGCAGGGGTGCAGGCGGCAGGGGTACAGGCGGCAGG GGTGAAGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGGGTAC AGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGC AGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(406): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCC CACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGT GCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGC CCCTCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0012 a0004c0005t0002g0012	1	246	0.0041	413	c.217 others(430): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGT GCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGT GGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCT GGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133748	T T	TTCTCTCC others(406): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC CCTCTGTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0095 a0001c0003t0001g0095	1	108	0.0093	413	c.-42 others(424): Show c.-4296_-4295insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCCCTCTGTCCCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4013		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133748	T T	TTCTCTCC others(406): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTC CCTCTGTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	108	0.0093	413	c.-42 others(424): Show c.-4296_-4295insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCT CCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4013		chr19	TogoVar
COL27A1_chr9_114150537_114317511	114278402	A A	ATGGTGAT others(406): Show ATGGTGATAGTGGGGATGGGAGTGGAGTGGAGGTGAGGGTGATGATGGTG CTGGTGGCAATGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGATGGT GGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGATGGCGGGGGTG ATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGG GGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGG CGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATG ATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 HG02559.hp2 others(1): Show HG01243.hp2 HG02280.hp1 HG02559.hp2 HG03453.hp2	a0004 a0011 a0034 others(1): Show a0004 a0011 a0034 a0045	a0004c0098 a0011c0112 a0034c0054 others(1): Show a0004c0098 a0011c0112 a0034c0054 a0045c0133	a0004c0098t0006 a0011c0112t0006 a0034c0054t0014 others(1): Show a0004c0098t0006 a0011c0112t0006 a0034c0054t0014 a0045c0133t0001	a0004c0098t0006g0299 a0011c0112t0006g0139 a0034c0054t0014g0055 others(1): Show a0004c0098t0006g0299 a0011c0112t0006g0139 a0034c0054t0014g0055 a0045c0133t0001g0190	4	291	0.0137	413	c.371 others(432): Show c.3717+2639_3717+2640insATAGTGGGGATGGGAGTGGAGTGGAG GTGAGGGTGATGATGGTGCTGGTGGCAATGGTGATAGTGGGGGTGGGAGT GGAGTGGAGGTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTG ATGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGC GGGGGTGGTGGTGGTGATGATGGTGGGGGTGGTGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114278402	A A	ATGGTGAT others(406): Show ATGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGATGATGGTG CTGGTGGCAATGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGATGGT GGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGATGGCGGGGGTG GTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGG GGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGG CGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATG ATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0045 a0005c0064 a0001c0045 a0005c0064	a0001c0045t0003 a0005c0064t0003 a0001c0045t0003 a0005c0064t0003	a0001c0045t0003g0058 a0005c0064t0003g0025 a0001c0045t0003g0058 a0005c0064t0003g0025	2	289	0.0069	413	c.371 others(432): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGATGATGGTGCTGGTGGCAATGGTGATAGTGGGGGTGGGAGT GGAGTGGAGGTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTG ATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGC GGGGGTGGTGGTGGTGATGATGGTGGGGGTGGTGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(406): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCCGTCCACCCATCCATCCACCCA TCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACC CATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCG TCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACC CATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCA TCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTC CACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	3	0.3333	413	c.13 others(424): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCCGTCCAC CCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCC ACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCCCC CCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCAC CCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCC ACTCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(406): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCACC CATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCG TCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACC CATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCA TCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTC CACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	3	0.3333	413	c.13 others(424): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCCCC CCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCAC CCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCC ACTCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(406): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATC CATCCACCCATCCCCCCACCCACCCATCCGTCCACCCATCCCCCCACCCA TCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTC CACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG01109.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0331 a0001c0001t0001g0245 a0001c0001t0001g0331	2	4	0.5000	413	c.13 others(424): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCC CCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCGTCCAC CCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCC ACTCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(406): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGG AGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	16	0.0625	413	c.416 others(434): Show c.416-142659_416-142658insCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTC CCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATTTAT others(406): Show ATATTTATATATTATATGTATATTATGTATACATAATATTTATATATTAT ATGTATATTATGTATACATAATATATTATATATTATATGTATATTATGTA TACATAATATATTATATATTATATGTATATTATGTATACATAATATATTA TATATTATATGTATATTATGTATACATAATATATTATATATTATATGTAT ATTATGTATACATAATATTTATATATTATATGTATATTATGTATACATAA TATATTATATATTATATGTATATTATGTATACATAATATTTATATATTAT ATGTATATTATGTATACATAATATATTATATATTATATGTATATTATGTA TACATAATATTTATATATTATATGTATATTATGTATACATAATATTTATA TATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	85	0.0118	413	c.896 others(430): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAAATA TTATGTATACATAATATACATATAATATATAATATATTATGTATACATAA TATACATATAATATATAAATATTATGTATACATAATATACATATAATATA TAATATATTATGTATACATAATATACATATAATATATAATATATTATGTA TACATAATATACATATAATATATAATATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAAATA TTATGTATACATAATATACATATAATATATAAATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar

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