Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CA10_chr17_51625320_52163714	52080453	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp2 HG02145.hp1 others(5): Show HG01071.hp2 HG01891.hp2 HG02145.hp1 HG02615.hp2 HG02896.hp1 HG03041.hp2 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0002g0135 a0001c0001t0003g0114 others(5): Show a0001c0001t0001g0042 a0001c0001t0002g0135 a0001c0001t0003g0114 a0001c0001t0004g0147 a0001c0001t0011g0155 a0001c0001t0012g0156 a0001c0002t0001g0050 a0001c0002t0001g0094	8	156	0.0513	-12	c.62- others(27): Show c.62-8072_62-8061delATTTATTTATTT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52108192	TTTTATAT others(5): Show TTTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG01106.hp1 others(23): Show HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG04228.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0092 others(23): Show a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0002g0014 a0001c0001t0002g0091 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0120 a0001c0001t0002g0135 a0001c0001t0003g0064 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0003g0119 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0147 a0001c0001t0011g0155 a0001c0001t0012g0156 a0001c0002t0001g0050 a0001c0002t0001g0094 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0116	26	156	0.1667	-12	c.62- others(29): Show c.62-35811_62-35800delTATATATATAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52108194	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	156	0.0064	-12	c.62- others(29): Show c.62-35813_62-35802delTATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52120413	ACCTTATC others(5): Show ACCTTATCCTTAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01074.hp1 others(33): Show HG00408.hp1 HG00438.hp2 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01358.hp1 HG01516.hp1 HG01891.hp1 HG02056.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG03471.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18964.hp1 NA18974.hp1 NA19000.hp2 NA19011.hp1 NA19058.hp1 NA19078.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0046 others(33): Show a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0002g0005 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0090 a0001c0001t0002g0105 a0001c0001t0002g0136 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0081 a0001c0001t0005g0001 a0001c0001t0006g0002 a0001c0001t0011g0155 a0001c0001t0012g0156 a0001c0002t0001g0040 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0116	36	156	0.2308	-12	c.61+ others(29): Show c.61+37301_61+37312delATAAGGATAAGG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA11_chr19_48632946_48651187	48646469	GCTGGGAG others(5): Show GCTGGGAGTGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	-12	c.-84 others(21): Show c.-849_-838delAGCCACTCCCAG	CA11	ENSG00000063180.9	transcript	ENST00000084798.9	protein_coding		283		chr19	TogoVar
CA12_chr15_63316378_63386846	63334242	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03704.hp1 HG03710.hp2 others(4): Show HG02083.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0040 a0001c0001t0001 a0001c0001t0006 a0001c0001t0040	a0001c0001t0001g0144 a0001c0001t0006g0290 a0001c0001t0006g0308 others(4): Show a0001c0001t0001g0144 a0001c0001t0006g0290 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0338 a0001c0001t0006g0339 a0001c0001t0040g0018	7	356	0.0197	-12	c.874 others(29): Show c.874+4565_874+4576delAAAAAAAAAAAA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	8/10			chr15	TogoVar
CA12_chr15_63316378_63386846	63376557	CCTTTCTT others(5): Show CCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0096 a0001c0001t0014g0096	1	356	0.0028	-12	c.86- others(25): Show c.86-891_86-880delAAAGAAAGAAAG	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA13_chr8_85240458_85289073	85283519	ACATTGTC others(5): Show ACATTGTCTTTTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0071 a0001c0001t0024g0071	1	350	0.0029	-12	c.21 others(23): Show c.2171_*2182delCATTGTCTTTTG	CA13	ENSG00000185015.8	transcript	ENST00000321764.4	protein_coding	7/7	2171		chr8	TogoVar
CA1_chr8_85322608_85383113	85338632	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG01070.hp2 others(14): Show HG00140.hp2 HG00544.hp2 HG01070.hp2 HG01074.hp1 HG01167.hp2 HG01433.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02895.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0001c0001t0001 a0001c0001t0002 a0001c0010t0001	a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0049 others(11): Show a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0148 a0001c0001t0001g0174 a0001c0001t0001g0242 a0001c0001t0002g0010 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0010t0001g0150	17	324	0.0525	-12	c.38- others(25): Show c.38-195_38-184delGAAAGAAAGAAA	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	2/7			chr8	TogoVar
CA1_chr8_85322608_85383113	85372491	AACAGGGG others(5): Show AACAGGGGATTCT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01099.hp1 HG02056.hp1 others(4): Show HG00544.hp2 HG01099.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG03098.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050	7	324	0.0216	-12	c.-25 others(29): Show c.-25+5543_-25+5554delAGAATCCCCTGT	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	1/7			chr8	TogoVar
CA1_chr8_85322608_85383113	85376658	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01261.hp2 HG02486.hp1 others(12): Show HG01070.hp1 HG01261.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0238 others(10): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0261 a0002c0002t0002g0237	15	324	0.0463	-12	c.-25 others(29): Show c.-25+1376_-25+1387delATTTATTTATTT	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	1/7			chr8	TogoVar
CA3_chr8_85433859_85454040	85450764	TATATATA others(5): Show TATATATATTTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18984.hp2 NA18998.hp2 others(1): Show NA18954.hp2 NA18984.hp2 NA18998.hp2 NA19082.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0009 a0002c0002 a0008c0009	a0002c0002t0001 a0008c0009t0001 a0002c0002t0001 a0008c0009t0001	a0002c0002t0001g0007 a0008c0009t0001g0007 a0002c0002t0001g0007 a0008c0009t0001g0007	4	364	0.0110	-12	c.26 others(23): Show c.2612_*2623delATATATATTTAC	CA3	ENSG00000164879.7	transcript	ENST00000285381.3	protein_coding		1725		chr8	TogoVar
CA4_chr17_60144973_60164546	60150654	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01168.hp2 others(10): Show HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01952.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG03041.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0011 a0001c0001 a0001c0002 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0006c0011t0001	a0001c0001t0001g0045 a0001c0001t0001g0146 a0001c0001t0001g0148 others(7): Show a0001c0001t0001g0045 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0002g0115 a0001c0002t0001g0029 a0001c0002t0001g0111 a0006c0011t0001g0147	13	380	0.0342	-12	c.58+ others(25): Show c.58+587_58+598delAAAAAAAAAAAA	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CA4_chr17_60144973_60164546	60164144	TCCTCCCT others(5): Show TCCTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	380	0.0026	-12	c.47 others(23): Show c.4721_*4732delCCTCCCTCCCTC	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding		4599		chr17	TogoVar
CA5A_chr16_87883013_87941529	87892510	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02055.hp1 others(6): Show HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG03225.hp2 HG03540.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0006 a0001c0001 a0002c0005 a0003c0006	a0001c0001t0001 a0002c0005t0001 a0003c0006t0001 a0001c0001t0001 a0002c0005t0001 a0003c0006t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 others(6): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0360 a0001c0001t0001g0386 a0002c0005t0001g0015 a0003c0006t0001g0004	9	400	0.0225	-12	c.619 others(27): Show c.619-568_619-557delATTATTATTATT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
CA5A_chr16_87883013_87941529	87899295	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02976.hp1 others(2): Show HG01884.hp2 HG02280.hp2 HG02976.hp1 HG03098.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0003 a0001c0001t0003 a0002c0005t0003	a0001c0001t0003g0049 a0001c0001t0003g0065 a0001c0001t0003g0230 others(2): Show a0001c0001t0003g0049 a0001c0001t0003g0065 a0001c0001t0003g0230 a0001c0001t0003g0384 a0002c0005t0003g0020	5	400	0.0125	-12	c.618 others(29): Show c.618+2605_618+2616delAAAAAAAAAAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
CA5A_chr16_87883013_87941529	87899919	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	400	0.0025	-12	c.618 others(29): Show c.618+1981_618+1992delTTTTTTTTTTTT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
CA5A_chr16_87883013_87941529	87914863	GGCACAGA others(5): Show GGCACAGAGAAGT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	400	0.0025	-12	c.341 others(29): Show c.341-9971_341-9960delACTTCTCTGTGC	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	2/6			chr16	TogoVar
CA5A_chr16_87883013_87941529	87928756	CTTTGTTT others(5): Show CTTTGTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG02976.hp1 others(2): Show HG02055.hp2 HG02886.hp1 HG02976.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0001t0001 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0072 a0001c0001t0001g0382 a0001c0001t0001g0385 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0382 a0001c0001t0001g0385 a0001c0001t0003g0384 a0001c0003t0002g0383	5	400	0.0125	-12	c.143 others(29): Show c.143-1823_143-1812delAAAAAAAACAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	1/6			chr16	TogoVar
CA5A_chr16_87883013_87941529	87938767	TTCATTCA others(5): Show TTCATTCACTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01358.hp1 others(2): Show HG00639.hp1 HG01081.hp1 HG01358.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0234 others(2): Show a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0234 a0001c0001t0001g0291 a0001c0001t0001g0366	5	400	0.0125	-12	c.-23 others(23): Show c.-2329_-2318delGTGAGTGAATGA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		2239		chr16	TogoVar
CA6_chr1_8940868_8980092	8960743	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0009 a0004c0008t0009	a0004c0008t0009g0220 a0004c0008t0009g0220	1	452	0.0022	-12	c.501 others(29): Show c.501+1777_501+1788delCACACACACACA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973710	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01516.hp1 HG03490.hp2 HG01496.hp2 HG01516.hp1 HG03490.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0001 a0003c0003t0002 a0002c0001t0001 a0003c0003t0002	a0002c0001t0001g0382 a0003c0003t0002g0079 a0003c0003t0002g0098 a0002c0001t0001g0382 a0003c0003t0002g0079 a0003c0003t0002g0098	3	452	0.0066	-12	c.845 others(27): Show c.845-846_845-835delCTTTCTTTCTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8977700	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01106.hp2 HG01358.hp2 others(21): Show HG00609.hp1 HG01106.hp2 HG01358.hp2 HG01891.hp1 HG02080.hp2 HG02258.hp1 HG02630.hp1 HG03130.hp1 HG03139.hp1 HG03490.hp1 HG03540.hp2 NA18953.hp2 NA18959.hp1 NA18962.hp1 NA18965.hp2 NA18968.hp2 NA18978.hp2 NA18983.hp2 NA19000.hp1 NA19009.hp1 NA19057.hp1 NA19082.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0009	a0001c0002 a0002c0001 a0002c0015 others(4): Show a0001c0002 a0002c0001 a0002c0015 a0003c0003 a0005c0005 a0007c0007 a0009c0010	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(8): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0007 a0002c0015t0001 a0003c0003t0001 a0003c0003t0002 a0005c0005t0001 a0007c0007t0001 a0009c0010t0001	a0001c0002t0001g0366 a0001c0002t0001g0403 a0001c0002t0001g0404 others(21): Show a0001c0002t0001g0366 a0001c0002t0001g0403 a0001c0002t0001g0404 a0001c0002t0001g0418 a0002c0001t0001g0180 a0002c0001t0001g0250 a0002c0001t0001g0301 a0002c0001t0002g0126 a0002c0001t0002g0410 a0002c0001t0005g0299 a0002c0001t0007g0337 a0002c0015t0001g0131 a0003c0003t0001g0048 a0003c0003t0001g0095 a0003c0003t0002g0033 a0003c0003t0002g0051 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0114 a0005c0005t0001g0105 a0007c0007t0001g0154 a0009c0010t0001g0307 a0009c0010t0001g0309 a0009c0010t0001g0311	24	452	0.0531	-12	c.29 others(23): Show c.2997_*3008delAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CA7_chr16_66839414_66859147	66855240	CTTATTTA others(5): Show CTTATTTATTTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA19240.hp2 HG00609.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0003 a0001c0001t0001g0011	2	394	0.0051	-12	c.17 others(23): Show c.1743_*1754delTTATTTATTTAT	CA7	ENSG00000168748.14	transcript	ENST00000338437.7	protein_coding		1094		chr16	TogoVar
CA8_chr8_60180412_60286400	60190432	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00733.hp1 others(27): Show HG00099.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01109.hp1 HG01169.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp2 HG02280.hp1 HG02615.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03195.hp1 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18957.hp2 NA18983.hp2 NA19012.hp1 NA19056.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(11): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0002t0030 a0001c0002t0034 a0001c0002t0038 a0001c0002t0042 a0001c0003t0006	a0001c0001t0002g0207 a0001c0001t0002g0323 a0001c0001t0002g0328 others(27): Show a0001c0001t0002g0207 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0009g0295 a0001c0001t0009g0298 a0001c0001t0009g0320 a0001c0001t0009g0330 a0001c0001t0009g0331 a0001c0001t0010g0065 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0133 a0001c0002t0008g0136 a0001c0002t0008g0137 a0001c0002t0008g0138 a0001c0002t0008g0148 a0001c0002t0011g0104 a0001c0002t0011g0123 a0001c0002t0011g0195 a0001c0002t0011g0196 a0001c0002t0022g0121 a0001c0002t0022g0122 a0001c0002t0023g0202 a0001c0002t0023g0205 a0001c0002t0027g0087 a0001c0002t0030g0089 a0001c0002t0034g0139 a0001c0002t0038g0111 a0001c0002t0042g0145 a0001c0003t0006g0030	30	344	0.0872	-12	c.36 others(27): Show c.36-459_*36-448delATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA9_chr9_35668928_35686159	35684649	ACACCCAG others(5): Show ACACCCAGCCCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	446	0.0022	-12	c.36 others(23): Show c.3625_*3636delCACCCAGCCCCT	CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding		3491		chr9	TogoVar
CAAP1_chr9_26835685_26897802	26847198	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	372	0.0027	-12	c.740 others(29): Show c.740-4563_740-4552delAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAAP1_chr9_26835685_26897802	26889420	AAAAAACA others(5): Show AAAAAACAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0019	1	372	0.0027	-12	c.304 others(29): Show c.304-1919_304-1908delGTTTTTGTTTTT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	1/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49329542	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	324	0.0031	-12	c.834 others(29): Show c.834+2393_834+2404delATATATATATTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49329544	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02293.hp2 HG02683.hp2 others(8): Show HG00140.hp1 HG02293.hp2 HG02683.hp2 HG03453.hp1 HG03579.hp1 HG03710.hp2 HG04115.hp2 NA18970.hp1 NA18989.hp2 NA19000.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0051 a0001c0001t0001g0136 a0001c0001t0001g0144 others(8): Show a0001c0001t0001g0051 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0235 a0001c0002t0001g0054 a0001c0002t0001g0071 a0001c0002t0001g0150 a0001c0002t0001g0225 a0001c0002t0001g0306 a0001c0002t0002g0074 a0001c0002t0003g0005	11	324	0.0340	-12	c.834 others(29): Show c.834+2391_834+2402delATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49361561	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(100): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02083.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18948.hp1 NA18959.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19012.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0003 a0001c0001 a0001c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0019 a0003c0003t0002	a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0095 others(100): Show a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0144 a0001c0001t0001g0190 a0001c0001t0001g0239 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0006g0099 a0001c0001t0006g0104 a0001c0001t0006g0135 a0001c0001t0006g0260 a0001c0001t0006g0277 a0001c0001t0006g0280 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0077 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0137 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0193 a0001c0002t0001g0205 a0001c0002t0001g0231 a0001c0002t0001g0236 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0001g0276 a0001c0002t0001g0294 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0002g0002 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0118 a0001c0002t0002g0122 a0001c0002t0002g0148 a0001c0002t0002g0168 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0195 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0224 a0001c0002t0002g0226 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0248 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0275 a0001c0002t0002g0290 a0001c0002t0002g0304 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0034 a0001c0002t0003g0042 a0001c0002t0005g0201 a0001c0002t0006g0288 a0001c0002t0007g0320 a0001c0002t0007g0321 a0001c0002t0007g0323 a0001c0002t0013g0266 a0001c0002t0019g0038 a0003c0003t0002g0287	103	324	0.3179	-12	c.277 others(29): Show c.277-1741_277-1730delCTTTCTTTCTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	5/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49440715	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03209.hp1 HG03579.hp1 others(1): Show HG01257.hp2 HG03209.hp1 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0004g0048	4	324	0.0124	-12	c.-24 others(31): Show c.-246+3259_-246+3270delACACACACACAC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230727363	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	342	0.0029	-12	c.-44 others(31): Show c.-44+14158_-44+14169delGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230742155	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG03139.hp2 others(1): Show HG02257.hp1 HG02486.hp2 HG03139.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0054 a0001c0001t0055 a0001c0001t0025 a0001c0001t0054 a0001c0001t0055	a0001c0001t0025g0134 a0001c0001t0025g0135 a0001c0001t0054g0137 others(1): Show a0001c0001t0025g0134 a0001c0001t0025g0135 a0001c0001t0054g0137 a0001c0001t0055g0136	4	342	0.0117	-12	c.-43 others(31): Show c.-43-17780_-43-17769delGTTTGTTTGTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748827	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02809.hp1 others(1): Show HG00639.hp2 HG01891.hp2 HG02809.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0029 a0001c0001t0032 a0001c0001t0019 a0001c0001t0029 a0001c0001t0032	a0001c0001t0019g0023 a0001c0001t0029g0304 a0001c0001t0032g0322 others(1): Show a0001c0001t0019g0023 a0001c0001t0029g0304 a0001c0001t0032g0322 a0001c0001t0032g0323	4	342	0.0117	-12	c.-43 others(31): Show c.-43-11130_-43-11119delAAAATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748829	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02109.hp1 HG02258.hp1 others(3): Show HG02027.hp2 HG02109.hp1 HG02258.hp1 HG03516.hp2 NA18971.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0060	a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0006g0197 others(3): Show a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0006g0197 a0001c0001t0019g0021 a0001c0001t0019g0022 a0001c0001t0060g0024	6	342	0.0175	-12	c.-43 others(31): Show c.-43-11128_-43-11117delAATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230756657	GTTTGTTT others(5): Show GTTTGTTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG01884.hp1 others(19): Show HG01106.hp1 HG01243.hp2 HG01884.hp1 HG02280.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18947.hp1 NA18970.hp1 NA18973.hp1 NA18983.hp2 NA19004.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0029 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0058 a0001c0001t0070 a0001c0001t0071 a0001c0005t0012	a0001c0001t0002g0306 a0001c0001t0003g0181 a0001c0001t0003g0182 others(19): Show a0001c0001t0002g0306 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0234 a0001c0001t0009g0008 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0014g0145 a0001c0001t0016g0187 a0001c0001t0017g0006 a0001c0001t0017g0007 a0001c0001t0017g0010 a0001c0001t0026g0011 a0001c0001t0026g0012 a0001c0001t0029g0002 a0001c0001t0040g0014 a0001c0001t0043g0009 a0001c0001t0045g0005 a0001c0001t0058g0015 a0001c0001t0070g0170 a0001c0001t0071g0177 a0001c0005t0012g0179	22	342	0.0643	-12	c.-43 others(29): Show c.-43-3298_-43-3287delGTTTATTTATTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230756661	GTTTATTT others(5): Show GTTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0113 a0001c0001t0004g0268 a0001c0001t0001g0113 a0001c0001t0004g0268	2	342	0.0059	-12	c.-43 others(29): Show c.-43-3262_-43-3251delATTTATTTATTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230786163	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01070.hp2 others(32): Show HG00423.hp1 HG00597.hp1 HG01070.hp2 HG01167.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG04204.hp1 HG06807.hp2 NA18944.hp2 NA18948.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA19002.hp1 NA19004.hp2 NA19055.hp1 NA19058.hp2 NA19065.hp2 NA19068.hp1 NA19085.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 others(6): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0039 a0001c0001t0044	a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0005g0126 others(32): Show a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0138 a0001c0001t0005g0143 a0001c0001t0005g0149 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0307 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0144 a0001c0001t0007g0148 a0001c0001t0007g0156 a0001c0001t0013g0124 a0001c0001t0013g0127 a0001c0001t0013g0130 a0001c0001t0013g0139 a0001c0001t0014g0025 a0001c0001t0014g0145 a0001c0001t0014g0150 a0001c0001t0014g0151 a0001c0001t0022g0146 a0001c0001t0022g0147 a0001c0001t0024g0125 a0001c0001t0024g0129 a0001c0001t0028g0154 a0001c0001t0039g0120 a0001c0001t0044g0133	35	342	0.1023	-12	c.115 others(29): Show c.115-4695_115-4684delAAAAAAAAAAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230813978	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02165.hp2 HG02074.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0081 a0001c0001t0001g0084	2	342	0.0059	-12	c.628 others(25): Show c.628-48_628-37delTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61687583	GAGAAGGA others(5): Show GAGAAGGATGACA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	374	0.0027	-12	c.479 others(29): Show c.479+1399_479+1410delAGAAGGATGACA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	4/7			chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61710253	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(63): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp2 HG01074.hp2 HG01175.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18950.hp2 NA18960.hp1 NA18969.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0007 a0001c0001t0001g0065 a0001c0001t0001g0168 others(61): Show a0001c0001t0001g0007 a0001c0001t0001g0065 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0212 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0007g0136 a0001c0001t0007g0264 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0003t0002g0008 a0001c0003t0002g0304 a0001c0003t0002g0310 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0322 a0001c0003t0002g0323 a0001c0003t0002g0327 a0001c0003t0002g0328 a0001c0003t0002g0329 a0001c0003t0002g0334 a0001c0003t0002g0340 a0001c0003t0002g0342 a0001c0003t0002g0345	66	374	0.1765	-12	c.552 others(31): Show c.552+19663_552+19674delGTGTGTGTGTGT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011076	AACACACA others(5): Show AACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0248 a0001c0008t0001g0248	1	268	0.0037	-12	c.-36 others(21): Show c.-365_-354delACACACACACAC	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		227		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011135	GCGCACGC others(5): Show GCGCACGCGCGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0019 a0001c0035t0001g0019	1	268	0.0037	-12	c.-30 others(21): Show c.-306_-295delCGCACGCGCGCA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		168		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24092687	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	268	0.0037	-12	c.378 others(29): Show c.3786+871_3786+882delGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24114058	TTTGTTGT others(5): Show TTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG02723.hp1 others(2): Show HG01243.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG03195.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 others(2): Show a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0253	5	268	0.0187	-12	c.430 others(29): Show c.4300+332_4300+343delTTGTTGTTGTTG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24136739	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	268	0.0037	-12	c.474 others(31): Show c.4746+2341_4746+2352delCACACACACACA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24147319	CCCTCCCT others(5): Show CCCTCCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18942.hp1 NA18959.hp1 HG04184.hp2 NA18942.hp1 NA18959.hp1	a0001 a0016 a0001 a0016	a0001c0012 a0016c0032 a0001c0012 a0016c0032	a0001c0012t0001 a0016c0032t0001 a0001c0012t0001 a0016c0032t0001	a0001c0012t0001g0262 a0001c0012t0001g0264 a0016c0032t0001g0263 a0001c0012t0001g0262 a0001c0012t0001g0264 a0016c0032t0001g0263	3	268	0.0112	-12	c.474 others(33): Show c.4746+12914_4746+12925delTCTCCTCCCTCC	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24156096	GGGGGCCG others(5): Show GGGGGCCGGGACT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	268	0.0037	-12	c.474 others(31): Show c.4747-8282_4747-8271delACTGGGGCCGGG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24178252	CCCCTGGG others(5): Show CCCCTGGGCAGGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18962.hp2 NA19066.hp2 NA18962.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0064 a0001c0001t0003g0060 a0001c0001t0003g0064	2	268	0.0075	-12	c.71 others(19): Show c.71_*82delCTGGGCAGGACC	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	37/37	71	INFO_REALIGN_3_PRIME	chr22	TogoVar

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