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
ARC_chr8_142606049_142619479	142609957	AAAGTCAG others(44): Show AAAGTCAGGGGAGGCTGACCTCCCGCAGCCCCTCGGAATCCAGTGTCCCC AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	-51	c.25 others(62): Show c.2592_*2642delGTGGGGACACTGGATTCCGAGGGGCTGCGGGAGG TCAGCCTCCCCTGACTT	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding		1091		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625076	GGTTCACG others(44): Show GGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCC CC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02145.hp2 HG02486.hp1 others(4): Show HG01168.hp2 HG02145.hp2 HG02486.hp1 HG03041.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0016g0092 others(4): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0016g0092 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0002t0001g0217 a0001c0010t0001g0010	7	244	0.0287	-51	c.-81 others(70): Show c.-81-19432_-81-19382delGGGGCCGCCGGGACAGGGGCTGCCGC AGTGTGCAGTGGGTGCTCCGTGAAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625425	GGCGGCCC others(44): Show GGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCATCCCCTGTCC CC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19043.hp1 HG03041.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0021 a0001c0002t0001g0022 a0001c0001t0001g0021 a0001c0002t0001g0022	2	155	0.0129	-51	c.-81 others(70): Show c.-81-19781_-81-19731delGGGGACAGGGGATGCCGCAGTGTGCA GTGAGTGCTCCGTGAACCGGGCCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625586	GGTTCACG others(44): Show GGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCC CC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0074 a0001c0007t0003g0074	1	161	0.0062	-51	c.-81 others(70): Show c.-81-19942_-81-19892delGGGGCCGCCGGGACAGGGGCTGCCGC AGTGTGCAGTGGGTGCTCCGTGAAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625651	TCACTGCA others(44): Show TCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCA CC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01168.hp2 HG01346.hp2 others(1): Show HG00558.hp2 HG01168.hp2 HG01346.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0008 a0001c0002 a0001c0010 a0002c0008	a0001c0002t0001 a0001c0010t0001 a0002c0008t0001 a0001c0002t0001 a0001c0010t0001 a0002c0008t0001	a0001c0002t0001g0002 a0001c0002t0001g0122 a0001c0010t0001g0010 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0122 a0001c0010t0001g0010 a0002c0008t0001g0140	4	161	0.0248	-51	c.-81 others(70): Show c.-81-20007_-81-19957delGGTGCTCCGTGAACGGGGCCGCCGGG ACAGGGGCTGCCGCAGTGTGCAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625680	GGCGGCCC others(44): Show GGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0062 a0002c0008t0001g0062	1	235	0.0043	-51	c.-81 others(70): Show c.-81-20036_-81-19986delGGGGACAGGGGCTGCCGCAGTGTGCA GTGGGTGCTCCGTGAACGGGGCCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625790	CGTTCACG others(44): Show CGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCC CG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0062 a0002c0008t0001g0062	1	244	0.0041	-51	c.-81 others(70): Show c.-81-20146_-81-20096delCGGGCCGCCGGGACAGGGGCTGCCGC AGTGTGCAGTGGGTGCTCCGTGAAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625935	CGCGGCCC others(44): Show CGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCC CG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG03195.hp1 others(2): Show HG02572.hp1 HG02976.hp2 HG03195.hp1 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0014t0007	a0001c0001t0001g0237 a0001c0001t0002g0240 a0001c0001t0004g0236 others(2): Show a0001c0001t0001g0237 a0001c0001t0002g0240 a0001c0001t0004g0236 a0001c0001t0007g0238 a0001c0014t0007g0239	5	237	0.0211	-51	c.-81 others(70): Show c.-81-20291_-81-20241delCGGGACAGGGGCTGCCGCAGTGTGCA GTGAGTGCTCCGTGAACGGGGCCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625957	TCACTGCA others(44): Show TCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCA CC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02622.hp2 others(6): Show HG02109.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG03041.hp1 HG03130.hp2 HG03486.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0001 a0001c0002t0001 a0001c0018t0001 a0001c0001t0001 a0001c0002t0001 a0001c0018t0001	a0001c0001t0001g0021 a0001c0001t0001g0228 a0001c0001t0001g0229 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0002t0001g0022 a0001c0002t0001g0221 a0001c0018t0001g0230	9	237	0.0380	-51	c.-81 others(70): Show c.-81-20313_-81-20263delGGTGCTCCGTGAACGGGGCCGCCGGG ACAGGGGCTGCCGCAGTGTGCAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144626128	GCCCCTGT others(44): Show GCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGC AT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG02965.hp1 others(1): Show HG02258.hp2 HG02809.hp1 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0088 a0001c0002t0001g0078 a0001c0002t0001g0086 others(1): Show a0001c0001t0003g0088 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0087	4	244	0.0164	-51	c.-81 others(70): Show c.-81-20484_-81-20434delATGCCGCAGTGTGCAGTGGGTGCTCC GTGAACGGGGCCGCCGGGACAGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144626314	TCACTGCA others(44): Show TCACTGCACACTGCGGCAGCCCCTGTCCCGGAGGCCCCGTTCACGGAGCA CC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02809.hp1 others(4): Show HG02258.hp2 HG02486.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0120 a0001c0001t0002g0121 a0001c0001t0003g0088 others(4): Show a0001c0001t0001g0120 a0001c0001t0002g0121 a0001c0001t0003g0088 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0221	7	235	0.0298	-51	c.-81 others(70): Show c.-81-20670_-81-20620delGGTGCTCCGTGAACGGGGCCTCCGGG ACAGGGGCTGCCGCAGTGTGCAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144626467	CCACTGCA others(44): Show CCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCA CT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	232	0.0043	-51	c.-81 others(70): Show c.-81-20823_-81-20773delAGTGCTCCGTGAACGGGGCCGCGGGG ACAGGGGCTGCCGCAGTGTGCAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1889152	GAGGAGAC others(44): Show GAGGAGACGCTGAGTTGGGGGGTTGTGAGGAGAGCGTGGGGTGAGGTTTA TT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0010 a0010	a0010c0097 a0010c0097	a0010c0097t0017 a0010c0097t0017	a0010c0097t0017g0259 a0010c0097t0017g0259	1	362	0.0028	-51	c.118 others(70): Show c.1182+3453_1182+3503delGCTGAGTTGGGGGGTTGTGAGGAGAG CGTGGGGTGAGGTTTATTAGGAGAC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955050	GTAGCTAG others(44): Show GTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAG GA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp2 HG01993.hp1 others(8): Show HG01255.hp1 HG01346.hp2 HG01993.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp1 HG02818.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA21309.hp1	a0001 a0017 a0022 a0001 a0017 a0022	a0001c0003 a0001c0007 a0001c0013 others(3): Show a0001c0003 a0001c0007 a0001c0013 a0001c0101 a0017c0072 a0022c0142	a0001c0003t0001 a0001c0003t0026 a0001c0007t0006 others(5): Show a0001c0003t0001 a0001c0003t0026 a0001c0007t0006 a0001c0007t0008 a0001c0013t0001 a0001c0101t0001 a0017c0072t0007 a0022c0142t0007	a0001c0003t0001g0065 a0001c0003t0026g0268 a0001c0007t0006g0097 others(8): Show a0001c0003t0001g0065 a0001c0003t0026g0268 a0001c0007t0006g0097 a0001c0007t0008g0347 a0001c0007t0008g0349 a0001c0007t0008g0358 a0001c0007t0008g0362 a0001c0013t0001g0017 a0001c0101t0001g0042 a0017c0072t0007g0330 a0022c0142t0007g0311	11	311	0.0354	-51	c.352 others(70): Show c.3521-1694_3521-1644delTAGGTGCTCCCTGAAAGGAGGTGCAC TCTCACTGTTCCTCTGGAGGATAGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955055	TAGGTGCT others(44): Show TAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAG CC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp2 HG02257.hp1 others(8): Show HG00741.hp2 HG01496.hp2 HG02257.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03486.hp2 NA19058.hp2	a0001 a0005 a0010 others(1): Show a0001 a0005 a0010 a0011	a0001c0002 a0001c0003 a0001c0005 others(5): Show a0001c0002 a0001c0003 a0001c0005 a0001c0095 a0001c0153 a0005c0039 a0010c0098 a0011c0029	a0001c0002t0020 a0001c0003t0042 a0001c0003t0058 others(8): Show a0001c0002t0020 a0001c0003t0042 a0001c0003t0058 a0001c0005t0001 a0001c0005t0027 a0001c0005t0040 a0001c0095t0018 a0001c0153t0002 a0005c0039t0048 a0010c0098t0008 a0011c0029t0035	a0001c0002t0020g0264 a0001c0003t0042g0122 a0001c0003t0058g0338 others(8): Show a0001c0002t0020g0264 a0001c0003t0042g0122 a0001c0003t0058g0338 a0001c0005t0001g0179 a0001c0005t0027g0272 a0001c0005t0040g0356 a0001c0095t0018g0345 a0001c0153t0002g0015 a0005c0039t0048g0095 a0010c0098t0008g0258 a0011c0029t0035g0275	11	190	0.0579	-51	c.352 others(70): Show c.3521-1607_3521-1557delCCTCTGGAGGATAGCCAGGTGCTCCC TGAAAGGAGGTGCACTCTCACTGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955241	TGTTCCTC others(44): Show TGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCA CA	T T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0256 a0001c0015t0001g0256	1	362	0.0028	-51	c.352 others(70): Show c.3521-1504_3521-1454delCCTCTGGAGGATAGCCAGGTGCATCC TGGAAGGAGGCACACTCTCACAGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7359451	GCCAGATC others(44): Show GCCAGATCAAGATTCAGTCTATGACACCAGGATTGGGGCTCAGTCTATGA TA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02451.hp2 others(5): Show HG01891.hp1 HG02280.hp1 HG02451.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp2 HG03209.hp1 NA21309.hp1	a0002 a0018 a0002 a0018	a0002c0004 a0002c0006 a0018c0029 a0002c0004 a0002c0006 a0018c0029	a0002c0004t0021 a0002c0006t0007 a0018c0029t0020 a0002c0004t0021 a0002c0006t0007 a0018c0029t0020	a0002c0004t0021g0277 a0002c0006t0007g0270 a0002c0006t0007g0272 others(5): Show a0002c0004t0021g0277 a0002c0006t0007g0270 a0002c0006t0007g0272 a0002c0006t0007g0273 a0002c0006t0007g0274 a0002c0006t0007g0275 a0002c0006t0007g0276 a0018c0029t0020g0271	8	296	0.0270	-51	c.-11 others(70): Show c.-110-3325_-110-3275delATCAAGATTCAGTCTATGACACCAGG ATTGGGGCTCAGTCTATGATACCAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111254361	CCACTAAC others(44): Show CCACTAACATGAAGGCCGGGCTCAGAAGAGGATTCGGGCTAAGGCGCTGA GT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0002c0009 a0003c0018 a0004c0010 a0005c0019 a0006c0017 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0021 a0001c0002t0024 a0001c0002t0031 a0001c0004t0022 a0001c0007t0004 a0001c0007t0027 a0001c0008t0001 a0001c0012t0030 a0001c0013t0001 a0001c0014t0001 a0001c0015t0002 a0001c0016t0008 a0002c0009t0002 a0003c0018t0013 a0004c0010t0001 a0005c0019t0002 a0006c0017t0003 a0007c0011t0005	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 others(198): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0247 a0001c0001t0002g0061 a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0150 a0001c0001t0002g0269 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0113 a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0139 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0210 a0001c0001t0003g0222 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0003g0246 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0268 a0001c0001t0004g0019 a0001c0001t0004g0116 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0205 a0001c0001t0005g0224 a0001c0001t0006g0262 a0001c0001t0007g0031 a0001c0001t0007g0089 a0001c0001t0008g0003 a0001c0001t0008g0009 a0001c0001t0008g0047 a0001c0001t0008g0066 a0001c0001t0008g0067 a0001c0001t0008g0106 a0001c0001t0011g0006 a0001c0001t0011g0007 a0001c0001t0011g0029 a0001c0001t0011g0044 a0001c0001t0011g0049 a0001c0001t0011g0050 a0001c0001t0012g0001 a0001c0001t0015g0265 a0001c0001t0015g0266 a0001c0001t0015g0267 a0001c0001t0016g0051 a0001c0001t0016g0062 a0001c0001t0016g0137 a0001c0001t0017g0263 a0001c0001t0017g0264 a0001c0001t0018g0010 a0001c0001t0018g0071 a0001c0001t0019g0045 a0001c0001t0026g0027 a0001c0001t0028g0121 a0001c0001t0029g0194 a0001c0001t0032g0270 a0001c0001t0033g0096 a0001c0002t0001g0164 a0001c0002t0001g0176 a0001c0002t0002g0020 a0001c0002t0002g0034 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0163 a0001c0002t0002g0168 a0001c0002t0002g0175 a0001c0002t0002g0183 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0193 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0207 a0001c0002t0002g0215 a0001c0002t0002g0231 a0001c0002t0002g0249 a0001c0002t0002g0259 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0006g0230 a0001c0002t0010g0052 a0001c0002t0010g0053 a0001c0002t0010g0155 a0001c0002t0010g0157 a0001c0002t0010g0185 a0001c0002t0010g0195 a0001c0002t0021g0250 a0001c0002t0021g0251 a0001c0002t0024g0179 a0001c0002t0031g0124 a0001c0004t0022g0202 a0001c0004t0022g0203 a0001c0007t0004g0033 a0001c0007t0027g0028 a0001c0008t0001g0093 a0001c0008t0001g0104 a0001c0012t0030g0046 a0001c0013t0001g0095 a0001c0014t0001g0032 a0001c0015t0002g0074 a0001c0016t0008g0221 a0002c0009t0002g0043 a0002c0009t0002g0107 a0003c0018t0013g0178 a0004c0010t0001g0090 a0005c0019t0002g0169 a0006c0017t0003g0114 a0007c0011t0005g0196	201	272	0.7390	-51	c.950 others(70): Show c.950+10120_950+10170delACTAACATGAAGGCCGGGCTCAGAAG AGGATTCGGGCTAAGGCGCTGAGTC	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111254586	TCAGAAGA others(44): Show TCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCCGGG CC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01109.hp1 others(18): Show HG00280.hp2 HG00323.hp1 HG01109.hp1 HG01192.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03579.hp2 HG04115.hp2 NA18941.hp2 NA18955.hp1 NA18957.hp1 NA18964.hp1 NA18968.hp1 NA18971.hp1 NA18979.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0023 a0001c0001t0029 a0001c0002t0002 a0001c0002t0021 a0001c0002t0031 a0001c0014t0001	a0001c0001t0001g0079 a0001c0001t0001g0138 a0001c0001t0002g0061 others(18): Show a0001c0001t0001g0079 a0001c0001t0001g0138 a0001c0001t0002g0061 a0001c0001t0003g0076 a0001c0001t0004g0081 a0001c0001t0004g0116 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0007g0060 a0001c0001t0008g0067 a0001c0001t0011g0029 a0001c0001t0023g0012 a0001c0001t0029g0194 a0001c0002t0002g0161 a0001c0002t0021g0250 a0001c0002t0021g0251 a0001c0002t0031g0124 a0001c0014t0001g0032	21	189	0.1111	-51	c.950 others(70): Show c.950+10853_950+10903delCCAGAAGAGGATTCGGGCTAAGGCGC TGAGTCGCTAACGTGAAGGCCGGGC	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL6_chr3_97759758_97806229	97781300	GTCAAGTG others(44): Show GTCAAGTGCTCACTAATTTACACTTGGTCCTTCATGTCCTTGGGTTCTGC AT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp2 HG02165.hp1 others(8): Show HG00423.hp2 HG00733.hp2 HG02165.hp1 HG02717.hp2 HG03486.hp2 HG03927.hp2 NA18747.hp2 NA18971.hp2 NA18991.hp2 NA19066.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013	a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 others(7): Show a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0006g0119 a0001c0001t0007g0027 a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0012g0070 a0001c0001t0012g0071 a0001c0001t0013g0066	11	362	0.0304	-51	c.254 others(66): Show c.254+620_254+670delAAGTGCTCACTAATTTACACTTGGTCCTTC ATGTCCTTGGGTTCTGCATTC	ARL6	ENSG00000113966.11	transcript	ENST00000463745.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL9_chr4_56500791_56529453	56526402	TAACGATG others(44): Show TAACGATGAGGGTTTGTGTCATGGGGGTTTCTAACAGAAATGGCACTAGA CA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	414	0.0024	-51	c.25 others(62): Show c.2527_*2577delAACGATGAGGGTTTGTGTCATGGGGGTTTCTAAC AGAAATGGCACTAGACA	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding		1950		chr4	TogoVar
ART1_chr11_3640128_3669416	3653290	GATGGCCG others(44): Show GATGGCCGGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGA AA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	392	0.0026	-51	c.-52 others(68): Show c.-52-5840_-52-5790delCCACCACAAAAGAAGTGAAAATGGCCGG TTCCTGCCTTAACTGATGACATT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
AS3MT_chr10_102864470_102906899	102877751	TTTTTTTT others(44): Show TTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCT AG	T T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0090 a0001c0001t0014g0090	1	360	0.0028	-51	c.611 others(66): Show c.611-627_611-577delTTTTTTTTTTTTTTTTTTTGAGATGGAGTC TCGCTCTGTCACCCAGGCTAG	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	7/10			chr10	TogoVar
ASAP2_chr2_9201812_9410678	9249728	AGGCATGC others(44): Show AGGCATGCCCGGGCTGGCGGGGGAGCTGCATGCACTGCCACCCCCAGAGG AG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0132 a0002c0005t0001g0132	1	210	0.0048	-51	c.127 others(70): Show c.127-29584_127-29534delTGCCCGGGCTGGCGGGGGAGCTGCAT GCACTGCCACCCCCAGAGGAGGGCA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB5_chr4_176208673_176274222	176219556	AATATGTA others(44): Show AATATGTATATATTTGTATGATATATATATATATATATATATATATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	398	0.0025	-51	c.670 others(68): Show c.670+1548_670+1598delATATATATATATATATATATATATATAT ATATCATACAAATATATACATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASMTL_chrX_1398139_1457909	1402667	TCCCCAAT others(44): Show TCCCCAATGCAGCTTCCTTCCCCCTCCCAAAATGCAGCCTCTGTCCCCAC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(74): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01081.hp1 HG01123.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18950.hp1 NA18950.hp2 NA18963.hp2 NA18970.hp1 NA18973.hp1 NA18980.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp1 NA19074.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0012 a0015	a0001c0001 a0001c0008 a0002c0003 others(19): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0002c0005 a0002c0011 a0002c0014 a0002c0028 a0002c0029 a0002c0030 a0003c0002 a0003c0006 a0003c0018 a0003c0026 a0004c0007 a0005c0033 a0005c0034 a0006c0017 a0008c0015 a0009c0020 a0012c0025 a0015c0036	a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 others(20): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 a0002c0011t0001 a0002c0014t0001 a0002c0028t0001 a0002c0029t0001 a0002c0030t0001 a0003c0002t0001 a0003c0002t0003 a0003c0006t0001 a0003c0018t0001 a0003c0026t0001 a0004c0007t0001 a0005c0033t0001 a0005c0034t0001 a0006c0017t0001 a0008c0015t0001 a0009c0020t0001 a0012c0025t0001 a0015c0036t0001	a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0054 others(73): Show a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0008t0001g0160 a0002c0003t0001g0008 a0002c0003t0001g0075 a0002c0003t0001g0106 a0002c0004t0001g0009 a0002c0004t0001g0095 a0002c0004t0001g0179 a0002c0005t0001g0031 a0002c0005t0001g0044 a0002c0005t0001g0068 a0002c0005t0001g0081 a0002c0005t0001g0091 a0002c0005t0001g0134 a0002c0005t0001g0156 a0002c0011t0001g0078 a0002c0011t0001g0098 a0002c0011t0001g0103 a0002c0014t0001g0002 a0002c0028t0001g0133 a0002c0029t0001g0174 a0002c0030t0001g0139 a0003c0002t0001g0004 a0003c0002t0001g0012 a0003c0002t0001g0014 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0065 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0105 a0003c0002t0001g0108 a0003c0002t0001g0111 a0003c0002t0001g0132 a0003c0002t0001g0145 a0003c0002t0001g0146 a0003c0002t0001g0147 a0003c0002t0001g0149 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0168 a0003c0002t0001g0173 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0003g0100 a0003c0006t0001g0016 a0003c0006t0001g0036 a0003c0006t0001g0069 a0003c0006t0001g0092 a0003c0006t0001g0102 a0003c0006t0001g0144 a0003c0006t0001g0151 a0003c0018t0001g0048 a0003c0026t0001g0155 a0004c0007t0001g0122 a0005c0033t0001g0166 a0005c0034t0001g0113 a0006c0017t0001g0182 a0006c0017t0001g0183 a0008c0015t0001g0169 a0008c0015t0001g0172 a0009c0020t0001g0141 a0012c0025t0001g0164 a0015c0036t0001g0165	77	183	0.4208	-51	c.55 others(60): Show c.551_*601delGAGTGGGGACAGAGGCTGCATTTTGGGAGGGGGAAG GAAGCTGCATTGGGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		471		chrX	TogoVar
ASTN2_chr9_116418112_117420057	117016634	ATATATAT others(44): Show ATATATATATATATATATATATAACCTATATATATGTTACATATATATAG GT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp1 NA19043.hp1 HG01243.hp2 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0008 a0001c0003 a0001c0005 a0001c0008	a0001c0003t0004 a0001c0005t0005 a0001c0008t0005 a0001c0003t0004 a0001c0005t0005 a0001c0008t0005	a0001c0003t0004g0085 a0001c0005t0005g0007 a0001c0008t0005g0073 a0001c0003t0004g0085 a0001c0005t0005g0007 a0001c0008t0005g0073	3	86	0.0349	-51	c.142 others(70): Show c.1424-8426_1424-8376delACCTATATATATGTAACATATATATA GGTTATATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ATAD3B_chr1_1466765_1502848	1481935	TGTGGCGT others(44): Show TGTGGCGTGGGCCGGTCCGTGGTGCGGGCCTGTCCGTGGCCTTAGCCTGT TG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01516.hp1 HG01517.hp1 others(5): Show HG00642.hp2 HG01516.hp1 HG01517.hp1 HG02300.hp2 HG02647.hp2 HG03471.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0008 a0001c0011 a0001c0019 a0001c0008 a0001c0011 a0001c0019	a0001c0008t0008 a0001c0008t0018 a0001c0011t0007 others(2): Show a0001c0008t0008 a0001c0008t0018 a0001c0011t0007 a0001c0011t0016 a0001c0019t0007	a0001c0008t0008g0095 a0001c0008t0008g0097 a0001c0008t0008g0099 others(4): Show a0001c0008t0008g0095 a0001c0008t0008g0097 a0001c0008t0008g0099 a0001c0008t0018g0098 a0001c0011t0007g0096 a0001c0011t0016g0094 a0001c0019t0007g0022	8	274	0.0292	-51	c.515 others(66): Show c.515-181_515-131delTGCGGGCCTGTCCGTGGCCTTAGCCTGTTG GTGGCGTGGGCCGGTCCGTGG	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B2_chr3_10319023_10510586	10507910	AAGCCCAG others(44): Show AAGCCCAGGGCTGCCTGCATGCGCAGGCCATCATGAGTGTGGGCTCACTG GG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(52): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02155.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18961.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp2 NA19003.hp2 NA19010.hp1 NA19062.hp1 NA19062.hp2 NA19086.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0023 a0001c0028 a0001c0033 a0003c0020	a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 others(31): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0039 a0001c0001t0048 a0001c0001t0056 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0040 a0001c0005t0001 a0001c0005t0002 a0001c0005t0016 a0001c0005t0032 a0001c0006t0001 a0001c0006t0003 a0001c0006t0010 a0001c0007t0001 a0001c0007t0003 a0001c0009t0001 a0001c0010t0005 a0001c0012t0022 a0001c0023t0009 a0001c0028t0006 a0001c0033t0003 a0003c0020t0015	a0001c0001t0001g0077 a0001c0001t0001g0253 a0001c0001t0001g0259 others(52): Show a0001c0001t0001g0077 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0013g0258 a0001c0001t0015g0106 a0001c0001t0017g0277 a0001c0001t0017g0278 a0001c0001t0039g0069 a0001c0001t0048g0276 a0001c0001t0056g0207 a0001c0002t0003g0161 a0001c0002t0008g0273 a0001c0002t0011g0104 a0001c0002t0011g0107 a0001c0002t0011g0108 a0001c0002t0012g0111 a0001c0003t0001g0068 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0260 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0267 a0001c0003t0002g0195 a0001c0003t0007g0191 a0001c0003t0007g0192 a0001c0003t0008g0239 a0001c0004t0001g0175 a0001c0004t0001g0238 a0001c0004t0001g0244 a0001c0004t0001g0257 a0001c0004t0002g0265 a0001c0004t0040g0281 a0001c0005t0001g0254 a0001c0005t0002g0269 a0001c0005t0016g0196 a0001c0005t0016g0252 a0001c0005t0032g0105 a0001c0006t0001g0170 a0001c0006t0003g0034 a0001c0006t0003g0071 a0001c0006t0003g0200 a0001c0006t0003g0287 a0001c0006t0010g0268 a0001c0007t0001g0284 a0001c0007t0003g0275 a0001c0009t0001g0044 a0001c0009t0001g0261 a0001c0010t0005g0160 a0001c0012t0022g0198 a0001c0023t0009g0279 a0001c0028t0006g0274 a0001c0033t0003g0272 a0003c0020t0015g0266	55	288	0.1910	-51	c.-28 others(62): Show c.-2816_-2766delCCCAGTGAGCCCACACTCATGATGGCCTGCGCAT GCAGGCAGCCCTGGGCT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding		2325		chr3	TogoVar
ATP9B_chr18_79064394_79383283	79145647	CGGGGGAG others(44): Show CGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCG GG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG02559.hp1 HG03516.hp2	a0001 a0013 a0001 a0013	a0001c0010 a0013c0022 a0001c0010 a0013c0022	a0001c0010t0004 a0013c0022t0004 a0001c0010t0004 a0013c0022t0004	a0001c0010t0004g0276 a0013c0022t0004g0277 a0001c0010t0004g0276 a0013c0022t0004g0277	2	296	0.0068	-51	c.726 others(68): Show c.726+1790_726+1840delGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCAGGCTGCATGTCGGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79225585	CTGGGTCC others(44): Show CTGGGTCCCGCAGTCGCAGGGCGGCCACTGTCTTCAGCGTCTGAGTGACT GT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	296	0.0034	-51	c.110 others(72): Show c.1107+11612_1107+11662delCGCAGGGCGGCCACTGTCTTCAGC GTCTGAGTGACTGTTGGGTCCCGCAGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79225686	GTTGGGTC others(44): Show GTTGGGTCCCGCAGTTGCAGGGCGGCCACTGTCTTCAGCGTCTGAGTGAC TC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG02818.hp2 others(1): Show HG01106.hp2 HG02572.hp2 HG02818.hp2 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0003 a0002c0002t0001 a0001c0004t0003 a0002c0002t0001	a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 others(1): Show a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0002c0002t0001g0161	4	295	0.0136	-51	c.110 others(72): Show c.1107+11663_1107+11713delTGCAGGGCGGCCACTGTCTTCAGC GTCTGAGTGACTCTTGGGTCCCGCAGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79236752	GCACGGTC others(44): Show GCACGGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCACTGTG TA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	241	0.0041	-51	c.110 others(72): Show c.1108-16534_1108-16484delACTGTGTACACGGTCCGTGCACGA GTCAGTGTCCACACCTGCCCCTTCCCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79237076	AGTCCGTG others(44): Show AGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCACTGTGTACA CG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0237 a0002c0002t0002g0237	1	296	0.0034	-51	c.110 others(72): Show c.1108-16265_1108-16215delACTGTGTACACGGTCCGTGCACGA GTCAGTGTCCACACCTGCCCCTTCCCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79320766	CTGGGAGG others(44): Show CTGGGAGGGAGCTTACATACTAGGAAACTCCGGGATGCTGTGGGTTTTAC GT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(71): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01168.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG03239.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18990.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0008 a0009 a0014	a0001c0003 a0001c0004 a0002c0002 others(6): Show a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0033 a0007c0019 a0008c0035 a0009c0031 a0014c0034	a0001c0003t0002 a0001c0004t0002 a0002c0002t0002 others(7): Show a0001c0003t0002 a0001c0004t0002 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0033t0002 a0007c0019t0002 a0008c0035t0002 a0009c0031t0002 a0014c0034t0002	a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0004t0002g0109 others(71): Show a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0004t0002g0109 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0190 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0199 a0002c0005t0002g0204 a0002c0005t0002g0205 a0002c0005t0002g0206 a0002c0005t0002g0208 a0002c0033t0002g0212 a0007c0019t0002g0076 a0008c0035t0002g0194 a0009c0031t0002g0248 a0014c0034t0002g0229	74	296	0.2500	-51	c.177 others(70): Show c.1774-8347_1774-8297delTCCGGGATGCTGTGGGTTTTACGTTG GGAGGGAGCTTACATACTAGGAAAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXIN1_chr16_282440_357723	321213	CTTCCATA others(44): Show CTTCCATACCCAGGCAGGAGCCGCCACCCTCCCTGGTAGTAAGGCACCAC AT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01361.hp1 others(6): Show HG00738.hp1 HG01261.hp2 HG01361.hp1 HG01934.hp1 HG02145.hp2 HG02559.hp1 HG03195.hp2 HG03927.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0014	a0001c0001t0005 a0001c0003t0001 a0001c0004t0025 others(3): Show a0001c0001t0005 a0001c0003t0001 a0001c0004t0025 a0001c0005t0003 a0001c0009t0038 a0001c0014t0020	a0001c0001t0005g0327 a0001c0003t0001g0362 a0001c0003t0001g0363 others(6): Show a0001c0001t0005g0327 a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0004t0025g0335 a0001c0004t0025g0348 a0001c0005t0003g0108 a0001c0009t0038g0277 a0001c0014t0020g0071 a0001c0014t0020g0072	9	346	0.0260	-51	c.879 others(68): Show c.879-6581_879-6531delATGTGGTGCCTTACTACCAGGGAGGGTG GCGGCTCCTGCCTGGGTATGGAA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	83003337	CTCCCGCC others(44): Show CTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGC AG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0237 a0002c0005t0007g0237	1	266	0.0038	-51	c.459 others(68): Show c.459+1727_459+1777delCTGCAGAGAGTGGGAGGGCGAGCTCAGG AATCCCACACGCGGAGGGCGGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052555	GGAGGTCC others(44): Show GGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTCACCCCACC GT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(45): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG02056.hp2 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG03130.hp1 HG03225.hp1 HG03579.hp1 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0013 others(4): Show a0001c0004 a0001c0006 a0001c0013 a0001c0014 a0001c0016 a0002c0015 a0002c0022	a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 others(18): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0011 a0001c0006t0018 a0001c0006t0023 a0001c0006t0033 a0001c0013t0012 a0001c0014t0001 a0001c0014t0002 a0001c0014t0018 a0001c0016t0001 a0002c0015t0003 a0002c0022t0003	a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 others(43): Show a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0051 a0001c0004t0010g0035 a0001c0004t0026g0048 a0001c0004t0031g0036 a0001c0006t0001g0018 a0001c0006t0001g0019 a0001c0006t0001g0023 a0001c0006t0002g0008 a0001c0006t0002g0026 a0001c0006t0002g0032 a0001c0006t0002g0041 a0001c0006t0006g0007 a0001c0006t0006g0025 a0001c0006t0006g0039 a0001c0006t0008g0021 a0001c0006t0010g0011 a0001c0006t0011g0016 a0001c0006t0011g0028 a0001c0006t0018g0017 a0001c0006t0023g0031 a0001c0006t0033g0046 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0001c0014t0001g0013 a0001c0014t0002g0012 a0001c0014t0018g0050 a0001c0016t0001g0009 a0001c0016t0001g0010 a0002c0015t0003g0024 a0002c0015t0003g0045 a0002c0022t0003g0030	48	194	0.2474	-51	c.-85 others(60): Show c.-855_-805delACGGTGGGGTGAGGGCCTCACTCCTGGGCACCCCTC CTCCTGGAGGACCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		786		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052861	GGAGGTCC others(44): Show GGAGGTCCCCCAGGAGGAGGGGTGCCCGGGAGTGAGGCCCTGACCCCACC GC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02148.hp1 HG00741.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0171 a0001c0001t0001g0172	2	266	0.0075	-51	c.-11 others(62): Show c.-1161_-1111delGCGGTGGGGTCAGGGCCTCACTCCCGGGCACCCC TCCTCCTGGGGGACCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1092		chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49150257	GCCCCCCG others(44): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCA GC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02083.hp1 HG00639.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0083 a0001c0001t0001g0103	2	378	0.0053	-51	c.354 others(68): Show c.354-2536_354-2486delGCCCGGCCAGCCGCCCCGTCTGGGAGGG AGGTGGGGGGGGTCAGCCCCCCC	B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT3_chr12_454939_568509	545657	GTGGGGAG others(44): Show GTGGGGAGGAGCGAGGTGTGGGGAGGAGCGAGGTGTGGGGAGGAGTGAGG AA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0174 a0003c0004t0005g0174	1	392	0.0026	-51	c.639 others(66): Show c.639+221_639+271delTGTGGGGAGGAGTGAGGAATGGGGAGGAGC GAGGTGTGGGGAGGAGCGAGG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545953	CGAGGAGT others(44): Show CGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGT GA	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	389	0.0026	-51	c.639 others(66): Show c.639+497_639+547delGGTGAGAGGAGTGGGGAGATGAGAGGAGTG GGGAGGTGAGAGGAGTGGGGA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BACE2_chr21_41163160_41287530	41244527	TAATGTCA others(44): Show TAATGTCATCAGTTAAGGCAGGGACTGGCCATTTTCACTTCTTTTGTGGT GG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01099.hp2 others(67): Show HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(29): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0053 a0001c0001t0054 a0001c0001t0061 a0001c0001t0063 a0001c0002t0001 a0001c0002t0013 a0001c0003t0005 a0001c0006t0052 a0002c0005t0041	a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(67): Show a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0142 a0001c0001t0004g0200 a0001c0001t0004g0212 a0001c0001t0004g0226 a0001c0001t0004g0239 a0001c0001t0005g0006 a0001c0001t0005g0009 a0001c0001t0005g0023 a0001c0001t0005g0031 a0001c0001t0005g0070 a0001c0001t0005g0141 a0001c0001t0005g0148 a0001c0001t0005g0167 a0001c0001t0005g0238 a0001c0001t0005g0241 a0001c0001t0005g0245 a0001c0001t0006g0162 a0001c0001t0006g0252 a0001c0001t0007g0003 a0001c0001t0007g0051 a0001c0001t0007g0076 a0001c0001t0007g0080 a0001c0001t0007g0090 a0001c0001t0007g0113 a0001c0001t0007g0208 a0001c0001t0007g0242 a0001c0001t0007g0268 a0001c0001t0008g0078 a0001c0001t0008g0087 a0001c0001t0008g0253 a0001c0001t0008g0255 a0001c0001t0009g0227 a0001c0001t0011g0069 a0001c0001t0011g0089 a0001c0001t0011g0093 a0001c0001t0011g0266 a0001c0001t0012g0153 a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 a0001c0001t0017g0147 a0001c0001t0017g0269 a0001c0001t0019g0010 a0001c0001t0019g0209 a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 a0001c0001t0021g0086 a0001c0001t0029g0146 a0001c0001t0031g0237 a0001c0001t0033g0038 a0001c0001t0034g0079 a0001c0001t0035g0114 a0001c0001t0037g0168 a0001c0001t0038g0103 a0001c0001t0039g0005 a0001c0001t0040g0085 a0001c0001t0042g0244 a0001c0001t0053g0077 a0001c0001t0054g0191 a0001c0001t0061g0104 a0001c0001t0063g0189 a0001c0002t0001g0194 a0001c0002t0013g0067 a0001c0003t0005g0052 a0001c0006t0052g0261 a0002c0005t0041g0139	70	270	0.2593	-51	c.882 others(68): Show c.882+1039_882+1089delGACTGGCCATTTTCACTTCTTTTGTGGT GGAATGTCATCAGTTAAGGCAGG	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACE2_chr21_41163160_41287530	41244549	GACTGGCC others(44): Show GACTGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGCAG GA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01074.hp2 others(55): Show HG00408.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02257.hp2 HG02602.hp1 HG02622.hp2 HG02895.hp2 HG03453.hp2 HG03490.hp1 HG03654.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18993.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0002t0001 a0001c0002t0056	a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(54): Show a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0002g0002 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0042 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0084 a0001c0001t0003g0096 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0154 a0001c0001t0003g0158 a0001c0001t0003g0172 a0001c0001t0003g0222 a0001c0001t0003g0228 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0097 a0001c0001t0004g0106 a0001c0001t0004g0130 a0001c0001t0004g0163 a0001c0001t0004g0173 a0001c0001t0004g0184 a0001c0001t0006g0188 a0001c0001t0009g0120 a0001c0001t0015g0068 a0001c0001t0015g0091 a0001c0001t0015g0134 a0001c0001t0048g0131 a0001c0001t0049g0033 a0001c0001t0050g0186 a0001c0002t0001g0024 a0001c0002t0001g0044 a0001c0002t0001g0049 a0001c0002t0001g0061 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0152 a0001c0002t0001g0166 a0001c0002t0001g0179 a0001c0002t0001g0223 a0001c0002t0001g0235 a0001c0002t0001g0240 a0001c0002t0001g0254 a0001c0002t0001g0257 a0001c0002t0056g0181	58	270	0.2148	-51	c.882 others(68): Show c.882+1042_882+1092delTGGCCATTTTCACTTCTTTTGTGGTGGA ATGTCATCAGTTAAGGCAGGAAC	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACE2_chr21_41163160_41287530	41244552	TGGCCATT others(44): Show TGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGCAGGAA CC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG02572.hp1 others(2): Show HG00741.hp2 HG02451.hp1 HG02572.hp1 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0012 a0001c0001t0030 others(1): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0030 a0001c0003t0012	a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(2): Show a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0030g0207 a0001c0003t0012g0205	5	270	0.0185	-51	c.882 others(68): Show c.882+1065_882+1115delGTGGAATGTCATCAGTTAAGGCAGGAAC CGGCCATTTTCACTTCTTTTGTG	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BAZ2B_chr2_159313979_159621548	159325032	TTATATAT others(44): Show TTATATATATATTATATATATATATATATTATATATATATATATATTATA TA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00642.hp1 others(34): Show HG00140.hp1 HG00140.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp1 HG02109.hp2 HG02135.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG03017.hp1 HG03098.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18961.hp2 NA18963.hp1 NA18974.hp1 NA18980.hp2 NA18983.hp2 NA18999.hp2 NA19057.hp2 NA19070.hp1 NA19079.hp2 NA19081.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0002c0007 a0003c0003 a0004c0004 a0004c0009 a0011c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0008t0002 a0002c0002t0001 a0002c0002t0002 a0002c0007t0002 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0004c0009t0001 a0011c0024t0001	a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0057 others(34): Show a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0158 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0004g0003 a0001c0001t0004g0110 a0001c0001t0005g0130 a0001c0008t0002g0159 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0098 a0002c0002t0002g0143 a0002c0002t0002g0201 a0002c0007t0002g0185 a0003c0003t0001g0009 a0003c0003t0001g0062 a0003c0003t0001g0067 a0003c0003t0001g0068 a0004c0004t0001g0071 a0004c0004t0002g0202 a0004c0009t0001g0010 a0011c0024t0001g0088	37	185	0.2000	-51	c.621 others(67): Show c.6210-129_6210-79delTATATAATATATATATATATATAATATAT ATATATATATAATATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159325066	ATATATAT others(44): Show ATATATATATATTATATATATATATATTATATATATATATATATATATAT TT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0031 a0003c0003t0001g0031	1	214	0.0047	-51	c.621 others(68): Show c.6210-163_6210-113delAAATATATATATATATATATATATAATA TATATATATATAATATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467267	ATGGTGGT others(44): Show ATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGAT GG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG02027.hp2 others(20): Show HG00597.hp1 HG01192.hp2 HG02027.hp2 HG02055.hp2 HG02129.hp2 HG02135.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02809.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA18944.hp2 NA18962.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA19084.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0032 a0001c0001t0053 a0001c0001t0064 a0001c0001t0066 a0001c0003t0003	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0040 others(20): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0002g0096 a0001c0001t0002g0124 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0156 a0001c0001t0003g0160 a0001c0001t0005g0226 a0001c0001t0013g0249 a0001c0001t0015g0189 a0001c0001t0018g0206 a0001c0001t0018g0210 a0001c0001t0019g0013 a0001c0001t0021g0092 a0001c0001t0023g0199 a0001c0001t0032g0037 a0001c0001t0053g0190 a0001c0001t0064g0246 a0001c0001t0066g0257 a0001c0003t0003g0176	23	158	0.1456	-51	c.487 others(68): Show c.487+1414_487+1464delCCATCACCACCACCACCATTACCACCAC CATCACTACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL9_chr1_147536501_147631216	147541070	TGAGAGAG others(44): Show TGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG GA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01256.hp1 HG01261.hp1 others(27): Show HG00558.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02572.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA19007.hp1 NA19012.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0024 a0002c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0056 others(27): Show a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0107 a0001c0001t0002g0188 a0001c0001t0002g0206 a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0108 a0001c0001t0004g0124 a0001c0001t0005g0040 a0001c0001t0005g0073 a0001c0001t0005g0150 a0001c0001t0006g0282 a0001c0001t0007g0099 a0001c0001t0007g0191 a0001c0001t0008g0008 a0001c0001t0008g0207 a0001c0001t0008g0210 a0001c0001t0008g0214 a0001c0001t0010g0016 a0001c0001t0010g0209 a0001c0001t0017g0244 a0001c0001t0024g0194 a0002c0003t0001g0011	30	181	0.1657	-51	c.-10 others(62): Show c.-1081_-1031delGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGA GAGAGAGAGAGAGAGGA	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		430		chr1	TogoVar
BCLAF3_chrX_19907860_19996061	19913483	AAAGGGAT others(44): Show AAAGGGATAAATAAGCCAGTTATTCTCAAACTCAAGTATGTGCCAGAATC CC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0089 a0001c0001t0021g0089	1	205	0.0049	-51	c.37 others(62): Show c.3771_*3821delGGGATTCTGGCACATACTTGAGTTTGAGAATAAC TGGCTTATTTATCCCTT	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding	12/12	3771		chrX	TogoVar

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