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
CHAT_chr10_49609037_49672942	49648726	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01243.hp1 others(4): Show HG00735.hp1 HG01192.hp1 HG01243.hp1 HG02622.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0255 others(3): Show a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0255 a0001c0001t0003g0292 a0001c0001t0011g0172 a0001c0001t0011g0173	7	418	0.0168	16	c.138 others(33): Show c.1382+136_1382+151dupACACACACACACACAC	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132843275	A A	AACAGTAG others(9): Show AACAGTAGAGTCTTGGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp2 HG02056.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0187 a0001c0001t0001g0112 a0001c0001t0001g0187	2	310	0.0065	16	c.454 others(33): Show c.454-4807_454-4806insACCAAGACTCTACTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	5/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGGGGGTG others(9): Show GGGGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	310	0.0032	16	c.369 others(35): Show c.369+19995_369+19996insACACACACACACCCCC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGGGTGTG others(9): Show GGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp2 HG01884.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0154 a0001c0001t0001g0123 a0001c0001t0001g0154	2	310	0.0065	16	c.369 others(35): Show c.369+19995_369+19996insACACACACACACACCC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp2 HG01255.hp2 others(15): Show HG00280.hp2 HG01175.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp2 HG02055.hp1 HG02647.hp1 HG02965.hp1 HG03453.hp2 HG03831.hp1 HG04115.hp1 NA18906.hp1 NA18988.hp2 NA19080.hp2 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0001t0001g0240 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0280 a0001c0001t0001g0306	18	310	0.0581	16	c.369 others(35): Show c.369+19980_369+19995dupACACACACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132963694	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01943.hp2 others(10): Show HG01516.hp1 HG01517.hp1 HG01943.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02965.hp1 HG03471.hp2 HG03579.hp2 NA18947.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0040 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0002g0215	13	310	0.0419	16	c.369 others(35): Show c.369+11459_369+11474dupGTGTGTGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132965059	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03927.hp2 HG00733.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0026 a0001c0001t0001g0046	2	310	0.0065	16	c.369 others(35): Show c.369+10094_369+10109dupCACACACACACACACA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132990951	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp2 others(6): Show HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01928.hp2 HG01975.hp1 HG02148.hp2 HG02273.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 others(6): Show a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0001g0213	9	310	0.0290	16	c.252 others(35): Show c.252-15681_252-15666dupGTGTGTGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	133027362	T T	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	310	0.0032	16	c.170 others(33): Show c.170-2736_170-2735insTCTCTCTCTCTCTCTC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	2/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126737390	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	216	0.0046	16	c.411 others(33): Show c.411+4182_411+4197dupATATATATATATATAT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126755838	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	216	0.0046	16	c.411 others(35): Show c.411+22632_411+22647dupGTGTGTGTGTGTGTGT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	216	0.0046	16	c.412 others(35): Show c.412-28081_412-28066dupAAAAAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862525	T T	TCCTCCCC others(9): Show TCCTCCCCCACTATCAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp2 HG02280.hp1 others(7): Show HG01167.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02723.hp1 HG02886.hp1 HG03209.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0190 others(7): Show a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204	10	216	0.0463	16	c.495 others(33): Show c.495+9796_495+9797insCTCCCCCACTATCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862644	T T	TCCCCCAC others(9): Show TCCCCCACCACCCCCAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	216	0.0046	16	c.495 others(33): Show c.495+9914_495+9915insCCCCCACCACCCCCAC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126910273	G G	GGAAAAAA others(9): Show GGAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp2 HG01496.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0211 a0001c0001t0001g0212	2	216	0.0093	16	c.496 others(33): Show c.496-4407_496-4406insGAAAAAAAAAAAAACA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CCTTTTTT others(9): Show CCTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 NA18950.hp2 others(4): Show HG00140.hp2 HG00323.hp1 NA18950.hp2 NA18962.hp2 NA18963.hp1 NA18979.hp1 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0121 others(4): Show a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0138	7	418	0.0168	16	c.34 others(27): Show c.3491_*3492insCTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02698.hp2 HG02717.hp2 others(7): Show HG02027.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp2 NA19060.hp2 NA19065.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0019 a0001c0001t0003g0215 a0001c0001t0003g0220 others(6): Show a0001c0001t0003g0019 a0001c0001t0003g0215 a0001c0001t0003g0220 a0001c0001t0003g0225 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0003g0333 a0001c0001t0003g0334 a0002c0002t0001g0143	10	418	0.0239	16	c.34 others(27): Show c.3491_*3492insTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98883826	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA20129.hp2 NA18973.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0151 a0001c0003t0002g0228 a0001c0001t0001g0151 a0001c0003t0002g0228	2	334	0.0060	16	c.256 others(33): Show c.2569-605_2569-590dupATATATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	334	0.0030	16	c.54- others(31): Show c.54-6049_54-6048insATATATATTTTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	334	0.0030	16	c.53+ others(31): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD4_chr12_6565082_6612379	6593649	G G	GGCCCCAG others(9): Show GGCCCCAGCACACTGCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0051 a0001c0002t0004g0051	1	374	0.0027	16	c.231 others(31): Show c.2314-49_2314-34dupTGCAGTGTGCTGGGGC	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding	15/39			chr12	TogoVar
CHD5_chr1_6096787_6185321	6106888	G G	GTGGAAGG others(9): Show GTGGAAGGATGGAGGGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18948.hp1 NA18944.hp2 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0253 a0001c0003t0002g0256 a0001c0003t0002g0253 a0001c0003t0002g0256	2	320	0.0063	16	c.557 others(33): Show c.5579-125_5579-110dupTCCCTCCATCCTTCCA	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	38/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6132880	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0078 a0002c0055t0078	a0002c0055t0078g0314 a0002c0055t0078g0314	1	320	0.0031	16	c.314 others(35): Show c.3145-1148_3145-1133dupGAGAGAGAGAGAGAGA	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	20/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6145014	T T	TTTAGTAA others(9): Show TTTAGTAAATTTCTACC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0012 a0012	a0012c0048 a0012c0048	a0012c0048t0003 a0012c0048t0003	a0012c0048t0003g0164 a0012c0048t0003g0164	1	320	0.0031	16	c.180 others(33): Show c.1803-860_1803-859insGGTAGAAATTTACTAA	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	11/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6175681	A A	AATGGATG others(9): Show AATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02895.hp1 HG03098.hp2 HG02258.hp1 HG02895.hp1 HG03098.hp2	a0001 a0001	a0001c0008 a0001c0010 a0001c0008 a0001c0010	a0001c0008t0012 a0001c0010t0004 a0001c0008t0012 a0001c0010t0004	a0001c0008t0012g0222 a0001c0008t0012g0223 a0001c0010t0004g0030 a0001c0008t0012g0222 a0001c0008t0012g0223 a0001c0010t0004g0030	3	320	0.0094	16	c.79+ others(31): Show c.79+4248_79+4263dupCCATCCATCCATCCAT	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03579.hp2 HG03490.hp1 HG03579.hp2	a0014 a0015 a0014 a0015	a0014c0028 a0015c0019 a0014c0028 a0015c0019	a0014c0028t0001 a0015c0019t0001 a0014c0028t0001 a0015c0019t0001	a0014c0028t0001g0317 a0015c0019t0001g0069 a0014c0028t0001g0317 a0015c0019t0001g0069	2	324	0.0062	16	c.612 others(33): Show c.6127+938_6127+953dupTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41419589	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0002 a0003c0013t0001g0002	1	324	0.0031	16	c.612 others(33): Show c.6127+918_6127+919insGTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41431776	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp2 NA18941.hp2 others(1): Show HG02559.hp1 HG03098.hp2 NA18941.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0003g0064 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0003g0064 a0001c0001t0003g0087	4	324	0.0124	16	c.406 others(35): Show c.4068+5497_4068+5498insAAAAAAAAAAAAAAAA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	27/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02572.hp2 HG02717.hp2 others(4): Show HG00323.hp2 HG02572.hp2 HG02717.hp2 HG03491.hp2 NA19004.hp1 NA19006.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001	a0001c0001t0002g0216 a0001c0001t0002g0232 a0001c0001t0002g0304 others(4): Show a0001c0001t0002g0216 a0001c0001t0002g0232 a0001c0001t0002g0304 a0001c0002t0001g0151 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0005t0001g0257	7	324	0.0216	16	c.853 others(33): Show c.853-4736_853-4721dupTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD8_chr14_21380199_21461123	21396566	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02809.hp1 others(1): Show HG02257.hp1 HG02630.hp1 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0237 a0001c0001t0002g0039 a0001c0001t0002g0040 others(1): Show a0001c0001t0001g0237 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041	4	260	0.0154	16	c.505 others(33): Show c.5052-690_5052-675dupTAAATAAATAAATAAA	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	27/37			chr14	TogoVar
CHD9NB_chr16_53036484_53057897	53051768	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0110 a0001c0001t0044g0110	1	406	0.0025	16	c.-18 others(33): Show c.-185+977_-185+992dupATATATATATATATAT	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	1/2			chr16	TogoVar
CHD9NB_chr16_53036484_53057897	53053640	A A	AGATTGAT others(9): Show AGATTGATTGATTGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp2 others(16): Show HG00597.hp2 HG00609.hp1 HG00621.hp2 HG02083.hp1 NA18939.hp1 NA18941.hp1 NA18950.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18983.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19062.hp1 NA19067.hp1 NA19077.hp1 NA19079.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0029 a0001c0001t0039	a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0127 others(9): Show a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0127 a0001c0001t0006g0016 a0001c0001t0006g0050 a0001c0001t0006g0109 a0001c0001t0006g0208 a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0009g0047 a0001c0001t0029g0210 a0001c0001t0039g0217	19	406	0.0468	16	c.-10 others(27): Show c.-1065_-1064insAATCAATCAATCAATC	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding		744		chr16	TogoVar
CHD9_chr16_53049991_53332497	53053640	A A	AGATTGAT others(9): Show AGATTGATTGATTGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp2 others(9): Show HG00597.hp2 HG00609.hp1 HG00621.hp2 NA18939.hp2 NA18950.hp1 NA18964.hp2 NA18970.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19062.hp2 NA19084.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0010c0018	a0001c0001t0001 a0001c0003t0002 a0001c0003t0010 others(3): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0010 a0002c0002t0001 a0003c0004t0001 a0010c0018t0019	a0001c0001t0001g0008 a0001c0003t0002g0002 a0001c0003t0002g0003 others(9): Show a0001c0001t0001g0008 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0015 a0001c0003t0010g0006 a0001c0003t0010g0013 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0019 a0002c0002t0001g0020 a0003c0004t0001g0007 a0010c0018t0019g0004	12	238	0.0504	16	c.-16 others(27): Show c.-1602_-1601insGATTGATTGATTGATT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding		1350		chr16	TogoVar
CHD9_chr16_53049991_53332497	53070485	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0103 a0001c0001t0007g0103	1	238	0.0042	16	c.-16 others(37): Show c.-165+15411_-165+15412insCTTCCTTCCTTCCTTC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53081839	G G	GTGAATGA others(9): Show GTGAATGAATGAATGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19087.hp1 HG01109.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0090 a0001c0001t0001g0099	2	238	0.0084	16	c.-16 others(37): Show c.-165+26780_-165+26795dupGAATGAATGAATGAAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53126099	G G	GTCATATG others(9): Show GTCATATGAAGGAAATC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0019 a0010c0018t0019	a0010c0018t0019g0004 a0010c0018t0019g0004	1	238	0.0042	16	c.-16 others(37): Show c.-164-29826_-164-29811dupTCATATGAAGGAAATC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53143387	T T	TTTATTTA others(9): Show TTTATTTATTTATTTAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0004 a0007c0009t0004	a0007c0009t0004g0107 a0007c0009t0004g0107	1	238	0.0042	16	c.-16 others(37): Show c.-164-12524_-164-12523insATTATTTATTTATTTA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53165716	A A	AAGAATTT others(9): Show AAGAATTTGCTGTAGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(71): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00609.hp1 HG00733.hp2 HG00735.hp2 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG02040.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18939.hp2 NA18952.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18981.hp2 NA18989.hp1 NA18992.hp2 NA18995.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0012	a0001c0005 a0002c0002 a0002c0022 others(3): Show a0001c0005 a0002c0002 a0002c0022 a0004c0006 a0009c0021 a0012c0010	a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 others(9): Show a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 a0001c0005t0012 a0001c0005t0018 a0002c0002t0001 a0002c0002t0008 a0002c0002t0014 a0002c0022t0001 a0004c0006t0001 a0009c0021t0005 a0012c0010t0001	a0001c0005t0004g0078 a0001c0005t0004g0104 a0001c0005t0004g0169 others(71): Show a0001c0005t0004g0078 a0001c0005t0004g0104 a0001c0005t0004g0169 a0001c0005t0004g0231 a0001c0005t0004g0232 a0001c0005t0004g0233 a0001c0005t0004g0234 a0001c0005t0004g0235 a0001c0005t0004g0236 a0001c0005t0004g0238 a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0032 a0001c0005t0005g0061 a0001c0005t0005g0089 a0001c0005t0005g0135 a0001c0005t0005g0151 a0001c0005t0011g0228 a0001c0005t0012g0229 a0001c0005t0018g0001 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0063 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0193 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0219 a0002c0002t0008g0065 a0002c0002t0008g0137 a0002c0002t0014g0011 a0002c0022t0001g0180 a0004c0006t0001g0121 a0004c0006t0001g0127 a0004c0006t0001g0128 a0009c0021t0005g0155 a0012c0010t0001g0212	74	238	0.3109	16	c.145 others(35): Show c.1452+8175_1452+8176insAGAATTTGCTGTAGTT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	2/38			chr16	TogoVar
CHDH_chr3_53807335_53851419	53810758	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02818.hp2 HG02886.hp1 others(2): Show HG01943.hp2 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0022 a0001c0003t0055 others(1): Show a0001c0001t0010 a0001c0003t0022 a0001c0003t0055 a0001c0003t0076	a0001c0001t0010g0082 a0001c0001t0010g0228 a0001c0003t0022g0055 others(2): Show a0001c0001t0010g0082 a0001c0001t0010g0228 a0001c0003t0022g0055 a0001c0003t0055g0207 a0001c0003t0076g0054	5	392	0.0128	16	c.70 others(27): Show c.7003_*7018dupTTTTTTTTTTTTTTTT	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding		1576		chr3	TogoVar
CHEK1_chr11_125620163_125662147	125657187	T T	TTTTGTGT others(9): Show TTTTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02818.hp1 HG03834.hp1 others(2): Show HG02735.hp2 HG02818.hp1 HG03834.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0050 a0001c0001t0005g0227 a0001c0001t0005g0230 others(2): Show a0001c0001t0005g0050 a0001c0001t0005g0227 a0001c0001t0005g0230 a0001c0001t0005g0232 a0001c0001t0012g0228	5	384	0.0130	16	c.18 others(27): Show c.1867_*1868insTTTGTGTGTGTGTGTG	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding		41		chr11	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02056.hp1 HG02132.hp2 others(1): Show HG01981.hp2 HG02056.hp1 HG02132.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0196 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0225	4	384	0.0104	16	c.100 others(35): Show c.1009-1257_1009-1242dupTTTTTTTTTTTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28702135	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03654.hp2 HG03942.hp1 others(3): Show HG02735.hp1 HG03654.hp2 HG03942.hp1 NA18950.hp1 NA18988.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0123 a0001c0001t0001g0172 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0123 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0196	6	384	0.0156	16	c.908 others(33): Show c.908+1354_908+1369dupCACACACACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	8/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28708361	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03654.hp2 HG01106.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0172 a0001c0001t0001g0181	2	384	0.0052	16	c.846 others(33): Show c.846+1644_846+1645insCACACACACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28708363	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	384	0.0026	16	c.846 others(33): Show c.846+1627_846+1642dupCACACACACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28742605	A A	AGAGGGGA others(9): Show AGAGGGGAGGGAGATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	384	0.0026	16	c.-85 others(25): Show c.-859_-844dupAAATCTCCCTCCCCTC	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding		786		chr22	TogoVar
CHGA_chr14_92918150_92940285	92920654	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA18951.hp1 HG02965.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0001 a0001c0001t0001g0025	2	447	0.0045	16	c.-27 others(27): Show c.-2706_-2705insAAAAAAAAAAAAAAAA	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding		2495		chr14	TogoVar
CHI3L1_chr1_203173931_203191704	203191149	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	468	0.0021	16	c.-45 others(27): Show c.-4527_-4526insTAAATAAATAAATAAA	CHI3L1	ENSG00000133048.13	transcript	ENST00000255409.8	protein_coding		4446		chr1	TogoVar
CHI3L2_chr1_111222713_111248440	111229681	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02965.hp2 HG04228.hp1 HG00642.hp1 HG02965.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0131 a0002c0003t0001g0036 a0001c0001t0003g0131 a0002c0003t0001g0036	3	434	0.0069	16	c.41- others(29): Show c.41-162_41-147dupAAAAAAAAAAAAAAAA	CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHIA_chr1_111285851_111325563	111321348	C C	CTTCTTCT others(9): Show CTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0005 a0018c0023t0005	a0018c0023t0005g0140 a0018c0023t0005g0140	1	426	0.0024	16	c.88 others(25): Show c.882_*883insTTCTTCTTCTTCTTCT	CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding		786		chr1	TogoVar
CHIC2_chr4_54004789_54069605	54026452	G G	GGGGTTGC others(9): Show GGGGTTGCAGTGAGCCA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	244	0.0041	16	c.331 others(35): Show c.331-12334_331-12333insTGGCTCACTGCAACCC	CHIC2	ENSG00000109220.11	transcript	ENST00000263921.8	protein_coding	3/5			chr4	TogoVar

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