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
SPRR2F_chr1_153107121_153118516	153113992	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03209.hp2 HG02055.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0003 a0001c0006 a0003c0003	a0001c0006t0001 a0003c0003t0001 a0001c0006t0001 a0003c0003t0001	a0001c0006t0001g0010 a0003c0003t0001g0004 a0001c0006t0001g0010 a0003c0003t0001g0004	2	376	0.0053	11	c.-53 others(20): Show c.-539_-538insAAAAAAAAAAA	SPRR2F	ENSG00000244094.2	transcript	ENST00000468739.2	protein_coding		477		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152952676	G G	GAGTTACC others(4): Show GAGTTACCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0008 a0004c0004t0005g0008	1	434	0.0023	11	c.37 others(22): Show c.3795_*3796insAGTTACCAGCC	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding		3422		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231358501	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	180	0.0056	11	c.51 others(22): Show c.5140_*5141insAAAAAAAAAAA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		3479		chr1	TogoVar
SPRY1_chr4_123391795_123408755	123392545	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	91	0.0110	11	c.-46 others(22): Show c.-4689_-4688insTTTTTTTTTTT	SPRY1	ENSG00000164056.11	transcript	ENST00000651917.1	protein_coding		4249		chr4	TogoVar
SPRY2_chr13_80330976_80346126	80343960	A A	ACACACAC others(4): Show ACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	418	0.0024	11	c.-33 others(22): Show c.-3391_-3390insGTGTGTGTGTG	SPRY2	ENSG00000136158.12	transcript	ENST00000377104.4	protein_coding		2835		chr13	TogoVar
SPRY3_chrX_155607586_155787459	155659156	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0067 a0001c0001t0064g0067	1	229	0.0044	11	c.-28 others(32): Show c.-282+46511_-282+46512insCTTTCTTTCTT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155680191	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	1	213	0.0047	11	c.-28 others(32): Show c.-282+67544_-282+67545insGTGTGTGTGTG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155682575	C C	CAATGGCA others(4): Show CAATGGCATAAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0229 a0001c0001t0139g0229	1	229	0.0044	11	c.-28 others(32): Show c.-282+69929_-282+69939dupAATGGCATAAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155692120	T T	TTCCAGAT others(4): Show TTCCAGATGGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0055 a0001c0001t0055g0055	1	229	0.0044	11	c.-28 others(32): Show c.-281-75842_-281-75841insTCCAGATGGAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY4_chr5_142305430_142330021	142322483	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0104 a0001c0001t0012g0104	1	207	0.0048	11	c.-48 others(28): Show c.-48+2360_-48+2361insATATATATTTT	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	1/1			chr5	TogoVar
SPRY4_chr5_142305430_142330021	142322484	A A	AAAATATA others(4): Show AAAATATATATG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	376	0.0027	11	c.-48 others(28): Show c.-48+2359_-48+2360insCATATATATTT	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	1/1			chr5	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0042 a0001c0001t0022g0042	1	42	0.0238	11	c.694 others(28): Show c.694+4588_694+4598dupTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB3_chr16_1771712_1787571	1782318	G G	GCCTGGCT others(4): Show GCCTGGCTGTTC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	436	0.0023	11	c.-13 others(26): Show c.-13+173_-13+183dupGAACAGCCAGG	SPSB3	ENSG00000162032.16	transcript	ENST00000566339.6	protein_coding	1/6			chr16	TogoVar
SPSB4_chr3_141046347_141153611	141112644	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02895.hp2 others(1): Show HG02486.hp2 HG02630.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0023 a0001c0001t0011 a0001c0001t0023	a0001c0001t0011g0119 a0001c0001t0011g0121 a0001c0001t0023g0009 a0001c0001t0011g0119 a0001c0001t0011g0121 a0001c0001t0023g0009	4	101	0.0396	11	c.695 others(30): Show c.695-34483_695-34473dupAAAAAAAAAAA	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTA1_chr1_158605704_158691715	158611131	G G	GCACACCA others(4): Show GCACACCACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0056 a0003c0003t0056	a0003c0003t0056g0260 a0003c0003t0056g0260	1	55	0.0182	11	c.13 others(20): Show c.132_*133insTGTGTGGTGTG	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	52/52	132		chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp2 NA18966.hp1 others(1): Show HG02129.hp1 HG02129.hp2 NA18966.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0008 a0001c0001 a0001c0004 a0002c0008	a0001c0001t0002 a0001c0004t0009 a0002c0008t0001 a0001c0001t0002 a0001c0004t0009 a0002c0008t0001	a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0004t0009g0257 others(1): Show a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0004t0009g0257 a0002c0008t0001g0211	4	166	0.0241	11	c.258 others(30): Show c.2587+1681_2587+1691dupAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	22	0.0455	11	c.-3- others(26): Show c.-3-5060_-3-5050dupAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0282 a0002c0004t0002g0282	1	202	0.0050	11	c.363 others(28): Show c.363+1447_363+1457dupTTTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128597641	G G	GTTTTGTT others(4): Show GTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0272 a0001c0007t0001g0272	1	310	0.0032	11	c.341 others(28): Show c.3415-744_3415-734dupTGTTTTGTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	24/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128600974	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00609.hp2 others(74): Show HG00280.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG01123.hp1 HG01123.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01978.hp2 HG02027.hp2 HG02083.hp2 HG02135.hp1 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA18969.hp1 NA18977.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19083.hp1 NA19084.hp1 NA19089.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0027 a0001c0028 a0001c0029 a0004c0015	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0013t0001 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0004c0015t0001	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 others(74): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0298 a0001c0001t0008g0098 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0207 a0001c0002t0001g0215 a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0289 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0095 a0001c0003t0001g0116 a0001c0003t0001g0133 a0001c0003t0001g0148 a0001c0013t0001g0165 a0001c0027t0001g0117 a0001c0028t0001g0160 a0001c0029t0001g0086 a0004c0015t0001g0173 a0004c0015t0001g0185	77	88	0.8750	11	c.357 others(28): Show c.3579+876_3579+886dupTTTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	27/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54471800	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01106.hp1 others(13): Show HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01433.hp1 HG01978.hp2 HG02071.hp1 HG02300.hp1 HG02486.hp1 NA18956.hp2 NA18978.hp2 NA18989.hp2 NA18992.hp1 NA19000.hp2 NA19002.hp2 NA19084.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009	a0001c0001t0007 a0001c0001t0022 a0001c0002t0001 others(6): Show a0001c0001t0007 a0001c0001t0022 a0001c0002t0001 a0001c0002t0006 a0001c0002t0047 a0001c0003t0003 a0001c0004t0004 a0001c0007t0001 a0001c0009t0045	a0001c0001t0007g0197 a0001c0001t0007g0294 a0001c0001t0022g0119 others(13): Show a0001c0001t0007g0197 a0001c0001t0007g0294 a0001c0001t0022g0119 a0001c0002t0001g0067 a0001c0002t0001g0085 a0001c0002t0001g0090 a0001c0002t0001g0118 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0312 a0001c0002t0006g0276 a0001c0002t0047g0271 a0001c0003t0003g0284 a0001c0004t0004g0277 a0001c0007t0001g0120 a0001c0009t0045g0298	16	22	0.7273	11	c.-48 others(30): Show c.-48+15291_-48+15301dupTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(124): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0025 a0001c0026 a0002c0006 a0003c0027 a0006c0022 a0008c0028 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0028 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0024 a0001c0003t0027 a0001c0003t0033 a0001c0003t0036 a0001c0004t0004 a0001c0005t0003 a0001c0005t0008 a0001c0005t0011 a0001c0005t0012 a0001c0005t0034 a0001c0007t0001 a0001c0007t0013 a0001c0008t0005 a0001c0008t0026 a0001c0011t0003 a0001c0011t0023 a0001c0012t0016 a0001c0014t0001 a0001c0014t0037 a0001c0016t0005 a0001c0025t0003 a0001c0026t0006 a0002c0006t0003 a0003c0027t0003 a0006c0022t0052 a0008c0028t0001 a0009c0024t0009	a0001c0001t0001g0156 a0001c0001t0002g0015 a0001c0001t0002g0030 others(124): Show a0001c0001t0001g0156 a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0122 a0001c0001t0002g0351 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0223 a0001c0001t0005g0221 a0001c0001t0007g0294 a0001c0001t0010g0238 a0001c0001t0018g0189 a0001c0001t0019g0031 a0001c0001t0022g0119 a0001c0001t0050g0076 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0065 a0001c0002t0001g0117 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0180 a0001c0002t0001g0231 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0331 a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0006g0114 a0001c0002t0006g0148 a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0157 a0001c0002t0006g0160 a0001c0002t0006g0273 a0001c0002t0006g0279 a0001c0002t0006g0299 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0006g0332 a0001c0002t0006g0333 a0001c0002t0006g0334 a0001c0002t0028g0295 a0001c0002t0028g0296 a0001c0002t0046g0330 a0001c0002t0047g0271 a0001c0002t0048g0025 a0001c0003t0003g0008 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0177 a0001c0003t0003g0251 a0001c0003t0003g0305 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0366 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0027g0054 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0004t0004g0107 a0001c0004t0004g0170 a0001c0004t0004g0277 a0001c0004t0004g0358 a0001c0005t0003g0047 a0001c0005t0003g0183 a0001c0005t0003g0184 a0001c0005t0003g0190 a0001c0005t0008g0176 a0001c0005t0011g0051 a0001c0005t0012g0369 a0001c0005t0012g0370 a0001c0005t0034g0003 a0001c0007t0001g0120 a0001c0007t0013g0108 a0001c0008t0005g0046 a0001c0008t0005g0244 a0001c0008t0005g0245 a0001c0008t0005g0260 a0001c0008t0026g0364 a0001c0008t0026g0365 a0001c0011t0003g0171 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0012t0016g0026 a0001c0012t0016g0152 a0001c0012t0016g0181 a0001c0014t0001g0014 a0001c0014t0001g0029 a0001c0014t0037g0011 a0001c0016t0005g0064 a0001c0025t0003g0352 a0001c0026t0006g0102 a0002c0006t0003g0013 a0002c0006t0003g0016 a0002c0006t0003g0151 a0002c0006t0003g0153 a0002c0006t0003g0179 a0002c0006t0003g0186 a0002c0006t0003g0187 a0002c0006t0003g0200 a0003c0027t0003g0075 a0006c0022t0052g0083 a0008c0028t0001g0006 a0009c0024t0009g0232	127	128	0.9922	11	c.-48 others(30): Show c.-48+31319_-48+31329dupTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54506894	C C	CTCTTTTT others(4): Show CTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02965.hp1 HG02572.hp2 HG02615.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0008 a0001c0003 a0001c0005 a0001c0008	a0001c0003t0003 a0001c0005t0008 a0001c0008t0005 a0001c0003t0003 a0001c0005t0008 a0001c0008t0005	a0001c0003t0003g0261 a0001c0005t0008g0056 a0001c0008t0005g0045 a0001c0003t0003g0261 a0001c0005t0008g0056 a0001c0008t0005g0045	3	4	0.7500	11	c.-47 others(30): Show c.-47-19477_-47-19476insCTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54530353	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 HG01496.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0007 a0001c0004t0004 a0001c0004t0007	a0001c0004t0004g0163 a0001c0004t0007g0055 a0001c0004t0004g0163 a0001c0004t0007g0055	2	66	0.0303	11	c.148 others(28): Show c.148+3800_148+3810dupTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp2 NA19030.hp1 HG02809.hp2 HG02895.hp2 NA19030.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0016	a0001c0012t0016g0135 a0001c0012t0016g0152 a0001c0012t0016g0181 a0001c0012t0016g0135 a0001c0012t0016g0152 a0001c0012t0016g0181	3	94	0.0319	11	c.149 others(28): Show c.149-4251_149-4241dupTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN2_chr11_66677497_66734216	66726357	C C	CTGGGGGG others(4): Show CTGGGGGGTGAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	326	0.0031	11	c.-11 others(30): Show c.-114+2383_-114+2384insATCACCCCCCA	SPTBN2	ENSG00000173898.15	transcript	ENST00000533211.6	protein_coding	1/37			chr11	TogoVar
SPTBN4_chr19_40462001_40581464	40491713	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0080 a0001c0010t0008g0080	1	91	0.0110	11	c.496 others(28): Show c.496-1235_496-1225dupAAAAAAAAAAA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN5_chr15_41843146_41899053	41844795	T T	TAGACGGG others(4): Show TAGACGGGGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0035 a0035	a0035c0029 a0035c0029	a0035c0029t0001 a0035c0029t0001	a0035c0029t0001g0223 a0035c0029t0001g0223	1	394	0.0025	11	c.38 others(22): Show c.3810_*3820dupGGACCCCGTCT	SPTBN5	ENSG00000137877.10	transcript	ENST00000320955.8	protein_coding		3350		chr15	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0171 a0007c0017t0001g0171	1	151	0.0066	11	c.660 others(30): Show c.6602+1599_6602+1609dupTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92027251	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	203	0.0049	11	c.52 others(22): Show c.5203_*5213dupTTTTTTTTTTT	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding		3895		chr9	TogoVar
SPTLC1_chr9_92026147_92120413	92050811	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01081.hp1 others(46): Show HG00280.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG02055.hp1 HG02071.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18951.hp2 NA18969.hp2 NA19001.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0065 others(42): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0004g0120 a0001c0001t0006g0307 a0001c0001t0008g0319 a0001c0001t0009g0042 a0001c0002t0002g0039	49	133	0.3684	11	c.781 others(26): Show c.781-755_781-745dupAAAAAAAAAAA	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	8/14			chr9	TogoVar
SPTLC2_chr14_77500997_77621637	77513016	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01257.hp1 HG01981.hp2 others(5): Show HG01123.hp2 HG01257.hp1 HG01981.hp2 HG02148.hp1 HG02698.hp1 NA18946.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0002t0006 a0001c0001t0006 a0001c0001t0008 a0001c0002t0006	a0001c0001t0006g0154 a0001c0001t0008g0118 a0001c0001t0008g0124 others(5): Show a0001c0001t0006g0154 a0001c0001t0008g0118 a0001c0001t0008g0124 a0001c0002t0006g0109 a0001c0002t0006g0111 a0001c0002t0006g0113 a0001c0002t0006g0114 a0001c0002t0006g0153	8	34	0.2353	11	c.157 others(28): Show c.1570-624_1570-614dupAAAAAAAAAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	11/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77604879	A A	AAAAAAAA others(4): Show AAAAAAAAAGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG01891.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0065 a0001c0002t0010g0066 a0001c0002t0010g0065 a0001c0002t0010g0066	2	238	0.0084	11	c.133 others(28): Show c.133-7500_133-7499insACCTTTTTTTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	1/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13080511	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02615.hp2 NA18522.hp1 HG01346.hp2 HG02615.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0009 a0001c0004 a0001c0005 a0001c0009	a0001c0004t0009 a0001c0005t0047 a0001c0009t0011 a0001c0004t0009 a0001c0005t0047 a0001c0009t0011	a0001c0004t0009g0208 a0001c0005t0047g0068 a0001c0009t0011g0161 a0001c0004t0009g0208 a0001c0005t0047g0068 a0001c0009t0011g0161	3	101	0.0297	11	c.607 others(28): Show c.607+6024_607+6025insAAAAAAAAAAA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	241	0.0041	11	c.113 others(28): Show c.113-7831_113-7830insACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34449503	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02055.hp2 HG02145.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0142 a0001c0001t0011g0028 a0001c0001t0011g0274 a0001c0001t0006g0142 a0001c0001t0011g0028 a0001c0001t0011g0274	3	206	0.0146	11	c.112 others(30): Show c.112+12582_112+12592dupAAAAAAAAAAA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02145.hp2 HG02895.hp2 HG01257.hp2 HG02145.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0001c0001t0003 a0001c0001t0004 a0001c0001t0027	a0001c0001t0003g0254 a0001c0001t0004g0295 a0001c0001t0027g0116 a0001c0001t0003g0254 a0001c0001t0004g0295 a0001c0001t0027g0116	3	202	0.0149	11	c.61- others(26): Show c.61-5108_61-5098dupTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622101	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 NA19075.hp1 HG01081.hp1 HG01099.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0137 a0001c0001t0001g0192 a0001c0001t0001g0193	3	255	0.0118	11	c.61- others(26): Show c.61-5113_61-5112insGTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQLE_chr8_124993505_125027283	125013356	C C	CTTTTTCT others(4): Show CTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00673.hp2 others(36): Show HG00438.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01123.hp2 HG01175.hp2 HG01928.hp1 HG02040.hp1 HG02145.hp1 HG02273.hp2 HG02698.hp2 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG04115.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18960.hp1 NA18978.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA19001.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp2 NA19072.hp2 NA19081.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0003t0008	a0001c0001t0001g0159 a0001c0001t0001g0177 a0001c0001t0001g0186 others(26): Show a0001c0001t0001g0159 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0189 a0001c0001t0011g0026 a0001c0001t0013g0158 a0001c0003t0008g0086 a0001c0003t0008g0087 a0001c0003t0008g0088	39	221	0.1765	11	c.120 others(30): Show c.1204+1729_1204+1730insCTTTTTTTTTT	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
SQSTM1_chr5_179815905_179843078	179842699	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0085 a0001c0002t0006g0085	1	39	0.0256	11	c.61 others(22): Show c.6106_*6107insAAAAAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4622		chr5	TogoVar
SRBD1_chr2_45383680_45616267	45545283	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0122 a0003c0003t0001g0122	1	119	0.0084	11	c.187 others(30): Show c.1874+1438_1874+1448dupTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571516	C C	CCAAAAAA others(4): Show CCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	353	0.0028	11	c.130 others(30): Show c.1305+1680_1305+1690dupTTTTTTTTTTG	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01433.hp1 others(4): Show HG00621.hp1 HG00735.hp1 HG01433.hp1 HG02683.hp1 HG02717.hp1 NA18975.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 others(4): Show a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175	7	122	0.0574	11	c.130 others(30): Show c.1305+1679_1305+1689dupTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRCAP_chr16_30694171_30746409	30714507	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19077.hp1 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0010 a0012 a0014	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014 a0001c0015 a0001c0020 a0001c0024 a0001c0025 a0002c0004 a0002c0013 a0003c0008 a0005c0009 a0006c0010 a0010c0023 a0012c0019 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0003t0002 a0001c0005t0001 a0001c0014t0001 a0001c0015t0002 a0001c0020t0002 a0001c0024t0001 a0001c0025t0002 a0002c0004t0001 a0002c0004t0004 a0002c0013t0001 a0003c0008t0002 a0005c0009t0001 a0006c0010t0001 a0010c0023t0002 a0012c0019t0001 a0014c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0144 a0001c0001t0004g0013 a0001c0001t0004g0035 a0001c0001t0004g0110 a0001c0001t0007g0102 a0001c0001t0009g0077 a0001c0001t0010g0140 a0001c0003t0002g0033 a0001c0005t0001g0136 a0001c0014t0001g0034 a0001c0015t0002g0032 a0001c0020t0002g0095 a0001c0024t0001g0111 a0001c0025t0002g0046 a0002c0004t0001g0002 a0002c0004t0001g0023 a0002c0004t0004g0002 a0002c0013t0001g0155 a0003c0008t0002g0056 a0003c0008t0002g0098 a0003c0008t0002g0099 a0005c0009t0001g0002 a0006c0010t0001g0118 a0006c0010t0001g0127 a0010c0023t0002g0060 a0012c0019t0001g0002 a0014c0017t0001g0009	144	159	0.9057	11	c.249 others(28): Show c.2493+798_2493+808dupTTTTTTTTTTT	SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	16/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTCCTTCC others(4): Show TTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0012 a0001c0001t0001 a0001c0003t0012	a0001c0001t0001g0151 a0001c0003t0012g0183 a0001c0003t0012g0210 a0001c0001t0001g0151 a0001c0003t0012g0183 a0001c0003t0012g0210	3	18	0.1667	11	c.345 others(28): Show c.345+1344_345+1345insGGAAGGAAGGA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRC_chr20_37341140_37411050	37360218	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0273 a0001c0001t0011g0273	1	171	0.0058	11	c.-24 others(30): Show c.-246-4976_-246-4966dupTTTTTTTTTTT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37384543	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0046 a0001c0001t0013 a0001c0001t0046	a0001c0001t0013g0057 a0001c0001t0046g0069 a0001c0001t0013g0057 a0001c0001t0046g0069	2	270	0.0074	11	c.250 others(26): Show c.250+146_250+147insGGGGGGGGGGG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A1_chr5_6628440_6679386	6641889	G G	GCAAGTTG others(4): Show GCAAGTTGATGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0068 a0001c0003t0068	a0001c0003t0068g0213 a0001c0003t0068g0213	1	404	0.0025	11	c.293 others(28): Show c.293+8033_293+8043dupAAGTTGATGTC	SRD5A1	ENSG00000145545.13	transcript	ENST00000274192.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRD5A3_chr4_55341242_55378100	55356000	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01074.hp2 others(16): Show HG00140.hp2 HG00642.hp1 HG01074.hp2 HG02135.hp1 HG02300.hp1 HG03239.hp1 HG03654.hp1 HG03704.hp2 NA18949.hp2 NA18959.hp1 NA18966.hp1 NA18978.hp2 NA18990.hp2 NA18994.hp1 NA19001.hp1 NA19062.hp1 NA19062.hp2 NA19070.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0068	a0001c0001t0002g0007 a0001c0001t0002g0042 a0001c0001t0002g0072 others(10): Show a0001c0001t0002g0007 a0001c0001t0002g0042 a0001c0001t0002g0072 a0001c0001t0002g0219 a0001c0001t0002g0239 a0001c0001t0002g0250 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0011g0243 a0001c0001t0014g0242 a0001c0001t0014g0244 a0001c0001t0018g0245 a0001c0001t0068g0157	19	58	0.3276	11	c.222 others(28): Show c.222-3330_222-3320dupTTTTTTTTTTT	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SREBF1_chr17_17806334_17841986	17829191	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02486.hp1 HG02486.hp2 others(4): Show HG01192.hp1 HG02486.hp1 HG02486.hp2 HG02809.hp1 HG02897.hp2 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0010 a0001c0019t0001 a0001c0001t0001 a0001c0001t0010 a0001c0019t0001	a0001c0001t0001g0036 a0001c0001t0010g0125 a0001c0001t0010g0127 others(3): Show a0001c0001t0001g0036 a0001c0001t0010g0125 a0001c0001t0010g0127 a0001c0001t0010g0129 a0001c0001t0010g0130 a0001c0019t0001g0225	7	337	0.0208	11	c.91+ others(26): Show c.91+7525_91+7535dupTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar

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