Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPTAN1_chr9_128547587_128638662	128570330	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0274 a0002c0004t0002g0274	1	202	0.0050	17	c.363 others(34): Show c.363+1434_363+1435insATATATTTTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128600974	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19074.hp2 NA18967.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0241 a0001c0002t0001g0194 a0001c0002t0001g0241	2	13	0.1538	17	c.357 others(34): Show c.3579+870_3579+886dupTTTTTTTTTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	27/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0109 a0001c0004t0010g0109	1	251	0.0040	17	c.-48 others(36): Show c.-48+10073_-48+10089dupAAAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54562533	C C	CTTTTTTT others(10): Show CTTTTTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0238 a0001c0001t0010g0238	1	97	0.0103	17	c.148 others(36): Show c.148+35974_148+35975insCTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02080.hp1 HG02145.hp1 others(15): Show HG01952.hp2 HG02080.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG03688.hp2 NA18945.hp2 NA18957.hp1 NA18990.hp2 NA19000.hp2 NA19005.hp2 NA20905.hp1 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0010c0032	a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 others(6): Show a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0008t0005 a0001c0008t0026 a0010c0032t0004	a0001c0001t0014g0104 a0001c0001t0018g0189 a0001c0001t0019g0241 others(15): Show a0001c0001t0014g0104 a0001c0001t0018g0189 a0001c0001t0019g0241 a0001c0004t0004g0068 a0001c0004t0004g0098 a0001c0004t0004g0107 a0001c0004t0004g0194 a0001c0004t0004g0195 a0001c0004t0004g0266 a0001c0004t0004g0277 a0001c0004t0007g0057 a0001c0004t0010g0109 a0001c0004t0010g0315 a0001c0004t0010g0342 a0001c0008t0005g0045 a0001c0008t0005g0260 a0001c0008t0026g0364 a0010c0032t0004g0327	18	146	0.1233	17	c.149 others(36): Show c.149-23036_149-23020dupTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02970.hp2 HG04228.hp1 others(4): Show HG02602.hp1 HG02970.hp2 HG04228.hp1 NA18955.hp2 NA18989.hp1 NA19005.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0003 a0001c0003t0027 a0002c0006t0003 a0001c0003t0003 a0001c0003t0027 a0002c0006t0003	a0001c0003t0003g0008 a0001c0003t0027g0054 a0002c0006t0003g0013 others(4): Show a0001c0003t0003g0008 a0001c0003t0027g0054 a0002c0006t0003g0013 a0002c0006t0003g0016 a0002c0006t0003g0179 a0002c0006t0003g0187 a0002c0006t0003g0188	7	69	0.1014	17	c.149 others(36): Show c.149-17508_149-17492dupTTTTTTTTTTTTTTTTT	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0368 a0001c0005t0008g0368	1	92	0.0109	17	c.149 others(34): Show c.149-4257_149-4241dupTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64744771	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02630.hp1 HG02965.hp1 others(2): Show HG01433.hp2 HG02630.hp1 HG02965.hp1 HG03041.hp1 HG03209.hp2	a0002 a0006 a0012 a0002 a0006 a0012	a0002c0003 a0002c0006 a0006c0016 others(1): Show a0002c0003 a0002c0006 a0006c0016 a0012c0025	a0002c0003t0008 a0002c0003t0020 a0002c0006t0005 others(2): Show a0002c0003t0008 a0002c0003t0020 a0002c0006t0005 a0006c0016t0005 a0012c0025t0008	a0002c0003t0008g0121 a0002c0003t0020g0193 a0002c0006t0005g0158 others(2): Show a0002c0003t0008g0121 a0002c0003t0020g0193 a0002c0006t0005g0158 a0006c0016t0005g0202 a0012c0025t0008g0119	5	167	0.0299	17	c.45 others(28): Show c.4518_*4534dupAAAAAAAAAAAAAAAAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding		1511		chr14	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG02080.hp2 others(2): Show HG01168.hp1 HG01175.hp2 HG02080.hp2 HG02257.hp1 HG03041.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0009 a0002c0003 others(1): Show a0001c0001 a0001c0009 a0002c0003 a0015c0067	a0001c0001t0006 a0001c0001t0025 a0001c0009t0006 others(2): Show a0001c0001t0006 a0001c0001t0025 a0001c0009t0006 a0002c0003t0014 a0015c0067t0010	a0001c0001t0006g0013 a0001c0001t0025g0034 a0001c0009t0006g0012 others(2): Show a0001c0001t0006g0013 a0001c0001t0025g0034 a0001c0009t0006g0012 a0002c0003t0014g0112 a0015c0067t0010g0133	5	155	0.0323	17	c.660 others(36): Show c.6602+1593_6602+1609dupTTTTTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92050811	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18953.hp2 HG02040.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0285 a0001c0001t0001g0137 a0001c0001t0001g0285	2	86	0.0233	17	c.781 others(32): Show c.781-761_781-745dupAAAAAAAAAAAAAAAAA	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	8/14			chr9	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	241	0.0041	17	c.113 others(34): Show c.113-7831_113-7830insACACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19072.hp2 NA19043.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0294 a0001c0001t0009g0301 a0001c0001t0004g0294 a0001c0001t0009g0301	2	201	0.0100	17	c.61- others(32): Show c.61-5114_61-5098dupTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQOR_chr15_45630029_45696281	45661289	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01070.hp2 HG02809.hp1 others(5): Show HG00438.hp1 HG01070.hp2 HG02809.hp1 HG02818.hp2 HG03654.hp2 HG03704.hp2 NA18950.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0081 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0143 a0001c0001t0001g0185 a0001c0001t0001g0203 a0001c0001t0001g0288	8	128	0.0625	17	c.235 others(32): Show c.235-666_235-665insAAAAAAAAAAAAAAAAA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	2/9			chr15	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18982.hp1 NA18992.hp1 others(2): Show NA18970.hp1 NA18982.hp1 NA18992.hp1 NA19056.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0269 a0003c0003t0001g0288 a0003c0003t0001g0289 others(2): Show a0003c0003t0001g0269 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0311 a0003c0003t0004g0298	5	120	0.0417	17	c.130 others(36): Show c.1305+1673_1305+1689dupTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37385169	G G	GAGACACA others(10): Show GAGACACACACAAGACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(106): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18962.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18994.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0002t0011 a0001c0003t0011 a0001c0004t0038 a0001c0004t0048 a0001c0005t0025 a0001c0007t0040	a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0060 others(105): Show a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0238 a0001c0001t0001g0264 a0001c0001t0002g0006 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0109 a0001c0001t0002g0149 a0001c0001t0002g0211 a0001c0001t0002g0234 a0001c0001t0002g0245 a0001c0001t0002g0275 a0001c0001t0003g0052 a0001c0001t0003g0107 a0001c0001t0003g0115 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0003g0165 a0001c0001t0004g0001 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0048 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0151 a0001c0001t0004g0224 a0001c0001t0004g0254 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0005g0014 a0001c0001t0005g0088 a0001c0001t0005g0110 a0001c0001t0005g0138 a0001c0001t0005g0232 a0001c0001t0005g0237 a0001c0001t0005g0274 a0001c0001t0006g0008 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0071 a0001c0001t0008g0080 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0226 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0010g0120 a0001c0001t0010g0267 a0001c0001t0011g0273 a0001c0001t0012g0034 a0001c0001t0012g0036 a0001c0001t0012g0037 a0001c0001t0012g0038 a0001c0001t0013g0057 a0001c0001t0013g0118 a0001c0001t0013g0137 a0001c0001t0014g0150 a0001c0001t0014g0208 a0001c0001t0015g0017 a0001c0001t0015g0018 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0018g0259 a0001c0001t0018g0266 a0001c0001t0020g0058 a0001c0001t0020g0111 a0001c0001t0022g0272 a0001c0001t0024g0271 a0001c0001t0027g0147 a0001c0001t0029g0243 a0001c0001t0033g0236 a0001c0001t0034g0093 a0001c0001t0035g0072 a0001c0001t0036g0233 a0001c0001t0039g0012 a0001c0001t0042g0066 a0001c0001t0046g0069 a0001c0001t0047g0235 a0001c0001t0049g0258 a0001c0001t0050g0123 a0001c0001t0051g0171 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0003t0011g0053 a0001c0004t0038g0068 a0001c0004t0048g0263 a0001c0005t0025g0094 a0001c0007t0040g0011	109	280	0.3893	17	c.250 others(32): Show c.250+774_250+775insACAAGACACAGACACAC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37386274	G G	GAGCCCAG others(10): Show GAGCCCAGGGCAGTGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	280	0.0036	17	c.350 others(32): Show c.350+114_350+115insTGAAGCCCAGGGCAGTG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37386289	C C	CGAAGCCC others(10): Show CGAAGCCCAGGGCAGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG03098.hp2 HG01884.hp1 HG02615.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0018 a0001c0001t0047 a0001c0005t0025 a0001c0001t0018 a0001c0001t0047 a0001c0005t0025	a0001c0001t0018g0259 a0001c0001t0047g0235 a0001c0005t0025g0094 a0001c0001t0018g0259 a0001c0001t0047g0235 a0001c0005t0025g0094	3	275	0.0109	17	c.350 others(32): Show c.350+117_350+133dupAAGCCCAGGGCAGTGTG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0030 a0002c0003t0030	a0002c0003t0030g0143 a0002c0003t0030g0143	1	194	0.0052	17	c.91+ others(32): Show c.91+7521_91+7522insATATTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREK1_chr5_66139300_66188615	66184223	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0051 a0001c0001t0012g0051	1	9	0.1111	17	c.53 others(28): Show c.5355_*5356insTTTTTTTTTTTTTTTTT	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding		609		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63842221	C C	CATTTTTT others(10): Show CATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 NA18946.hp1 NA18948.hp1 HG01257.hp2 NA18946.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0108 a0001c0002t0026 a0001c0002t0035 a0001c0001t0108 a0001c0002t0026 a0001c0002t0035	a0001c0001t0108g0026 a0001c0002t0026g0023 a0001c0002t0035g0027 a0001c0001t0108g0026 a0001c0002t0026g0023 a0001c0002t0035g0027	3	84	0.0357	17	c.-25 others(28): Show c.-2596_-2595insATTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding		2478		chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63954683	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG02965.hp2 others(1): Show HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0128 a0001c0001t0129 a0001c0001t0148 others(1): Show a0001c0001t0128 a0001c0001t0129 a0001c0001t0148 a0003c0005t0136	a0001c0001t0128g0133 a0001c0001t0129g0165 a0001c0001t0148g0156 others(1): Show a0001c0001t0128g0133 a0001c0001t0129g0165 a0001c0001t0148g0156 a0003c0005t0136g0038	4	166	0.0241	17	c.68- others(34): Show c.68-29255_68-29254insAAAAAAAGAAAAAAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64144226	A A	ATTTTTGT others(10): Show ATTTTTGTTGTTGTTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG03453.hp1 HG02965.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0129 a0001c0001t0128 a0001c0001t0129	a0001c0001t0128g0133 a0001c0001t0129g0165 a0001c0001t0128g0133 a0001c0001t0129g0165	2	168	0.0119	17	c.15 others(28): Show c.1554_*1555insTTTTTGTTGTTGTTGTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	1555		chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883682	A A	AAAAGCCG others(10): Show AAAAGCCGCGGTGGGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0018 a0007c0007t0018	a0007c0007t0018g0001 a0007c0007t0018g0001	1	54	0.0185	17	c.84 others(28): Show c.8477_*8478insATGCCCACCGCGGCTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3605		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121235626	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0001 a0003c0004t0018g0002 a0003c0004t0018g0001 a0003c0004t0018g0002	2	90	0.0222	17	c.67+ others(34): Show c.67+48128_67+48129insTTTTTTTTTTTTTTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121331144	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	38	0.0263	17	c.423 others(34): Show c.423+6517_423+6533dupAAAAAAAAAAAAAAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396092	G G	GGCTTTTT others(10): Show GGCTTTTTGTCCCCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	272	0.0037	17	c.82 others(28): Show c.8237_*8238insGCTTTTTGTCCCCCGCC	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3219		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396102	C C	CCCCCGCC others(10): Show CCCCCGCCGCTTTTTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02040.hp1 HG04184.hp1 others(1): Show HG00735.hp1 HG02040.hp1 HG04184.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0001c0001t0001 a0002c0002t0002 a0002c0002t0012	a0001c0001t0001g0237 a0002c0002t0002g0029 a0002c0002t0012g0098 others(1): Show a0001c0001t0001g0237 a0002c0002t0002g0029 a0002c0002t0012g0098 a0002c0002t0012g0104	4	101	0.0396	17	c.82 others(28): Show c.8247_*8248insCCCCGCCGCTTTTTGCA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3229		chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03710.hp2 HG03654.hp1 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0016 a0001c0013t0016 a0001c0003t0016 a0001c0013t0016	a0001c0003t0016g0076 a0001c0013t0016g0121 a0001c0003t0016g0076 a0001c0013t0016g0121	2	52	0.0385	17	c.68- others(34): Show c.68-23698_68-23682dupTTTTTTTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGN_chr10_69083103_69109805	69091879	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	296	0.0034	17	c.79+ others(32): Show c.79+3656_79+3672dupAAAAAAAAAAAAAAAAA	SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
SRL_chr16_4184374_4247080	4213404	C C	CTTTTTCT others(10): Show CTTTTTCTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(16): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00642.hp1 HG01074.hp1 HG01516.hp2 HG01981.hp2 HG02145.hp2 HG02735.hp2 HG02886.hp2 HG02897.hp1 HG03486.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG04199.hp2 NA19060.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 a0001c0002t0005 a0001c0002t0044	a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0075 others(16): Show a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0231 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0306 a0001c0001t0004g0055 a0001c0001t0004g0159 a0001c0001t0004g0233 a0001c0001t0004g0240 a0001c0001t0004g0266 a0001c0001t0029g0076 a0001c0002t0005g0160 a0001c0002t0044g0230	19	236	0.0805	17	c.62- others(32): Show c.62-8771_62-8770insAAAAAGAAAAAGAAAAA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4220278	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02523.hp2 HG00544.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0181 a0001c0001t0001g0083 a0001c0001t0001g0181	2	115	0.0174	17	c.62- others(34): Show c.62-15645_62-15644insGTGTGTGTGTGTGTGTG	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4220309	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0350 a0001c0001t0013g0350	1	353	0.0028	17	c.62- others(34): Show c.62-15676_62-15675insGTGTGTGTGTGTGTGTG	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp1 HG02056.hp2 HG02080.hp2 HG02155.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG03017.hp2 HG03834.hp1 HG04184.hp2 NA18946.hp2 NA18947.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008	a0001c0002t0001g0002 a0001c0002t0001g0046 a0001c0002t0001g0047 others(3): Show a0001c0002t0001g0002 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0069 a0001c0002t0004g0029 a0001c0002t0008g0071	62	130	0.4769	17	c.211 others(32): Show c.211-262_211-261insTTTTTTTTTTTTTTTTT	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4			chr15	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GGAAAAAA others(10): Show GGAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	69	0.0145	17	c.211 others(32): Show c.211-262_211-261insTTTTTTTTTTTTTTTTC	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4			chr15	TogoVar
SRP19_chr5_112856287_112874788	112862304	C C	CGGCCAGT others(10): Show CGGCCAGTCTGATTAGTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	406	0.0025	17	c.42- others(30): Show c.42-202_42-186dupGCCAGTCTGATTAGTTG	SRP19	ENSG00000153037.15	transcript	ENST00000505459.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRP68_chr17_76033785_76077517	76062744	T T	TATATATA others(10): Show TATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	364	0.0027	17	c.562 others(34): Show c.562-1171_562-1170insTTTATATATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp2 HG01109.hp2 others(10): Show HG00438.hp2 HG01069.hp2 HG01109.hp2 HG02056.hp1 HG02129.hp2 HG02293.hp1 HG03471.hp2 NA18956.hp2 NA18962.hp2 NA18992.hp2 NA19011.hp1 NA19082.hp2 NA19088.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0014 a0001c0004t0004 a0001c0004t0014	a0001c0004t0004g0020 a0001c0004t0004g0163 a0001c0004t0004g0181 others(8): Show a0001c0004t0004g0020 a0001c0004t0004g0163 a0001c0004t0004g0181 a0001c0004t0004g0182 a0001c0004t0004g0188 a0001c0004t0004g0189 a0001c0004t0004g0190 a0001c0004t0004g0194 a0001c0004t0004g0206 a0001c0004t0004g0216 a0001c0004t0014g0179	13	146	0.0890	17	c.958 others(32): Show c.958-701_958-685dupTTTTTTTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK1_chr6_35827966_35926098	35853437	T T	TGTAAAGT others(10): Show TGTAAAGTACTTGAGCAC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	340	0.0029	17	c.162 others(36): Show c.1620+3807_1620+3823dupGTGCTCAAGTACTTTAC	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	13/15			chr6	TogoVar
SRPK1_chr6_35827966_35926098	35856548	G G	GTAGTAAG others(10): Show GTAGTAAGCAAATTACAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	340	0.0029	17	c.162 others(34): Show c.1620+712_1620+713insATGTAATTTGCTTACTA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	13/15			chr6	TogoVar
SRPK1_chr6_35827966_35926098	35880746	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02055.hp2 others(4): Show HG01361.hp2 HG01884.hp1 HG02055.hp2 HG02486.hp1 HG03209.hp2 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0233 a0001c0002t0002g0237 a0001c0002t0002g0238 others(4): Show a0001c0002t0002g0233 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0255 a0001c0002t0002g0326	7	245	0.0286	17	c.478 others(34): Show c.478+5977_478+5978insCTTTCTTTCTTTCTTTC	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105124640	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	74	0.0135	17	c.191 others(36): Show c.1915+1591_1915+1607dupTTTTTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	15/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105159448	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01361.hp2 others(2): Show HG00099.hp2 HG00642.hp1 HG01361.hp2 HG03098.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0253 others(2): Show a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0271	5	157	0.0318	17	c.621 others(34): Show c.621+1042_621+1058dupTTTTTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105245034	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	9	0.1111	17	c.72- others(34): Show c.72-41250_72-41249insGTGTGTGTGTGTGTGTG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105323967	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	85	0.0118	17	c.71+ others(34): Show c.71+64680_71+64681insCACACACACACACACAC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	15	0.0667	17	c.164 others(34): Show c.164-4824_164-4808dupTTTTTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRD_chr22_26478877_26499658	26490559	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02135.hp2 HG03831.hp1 others(2): Show HG01952.hp2 HG02135.hp2 HG03831.hp1 NA18973.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0022 a0001c0001t0006g0022 a0001c0001t0001g0022 a0001c0001t0006g0022	5	62	0.0806	17	c.764 others(32): Show c.764+367_764+383dupTTTTTTTTTTTTTTTTT	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01071.hp1 HG02622.hp1 HG00438.hp1 HG01071.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0231 a0001c0001t0003g0055 a0001c0003t0003g0019 a0001c0001t0001g0231 a0001c0001t0003g0055 a0001c0003t0003g0019	3	117	0.0256	17	c.-28 others(28): Show c.-2808_-2807insAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76221359	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0321 a0007c0013t0001g0321	1	138	0.0072	17	c.-39 others(36): Show c.-39-13664_-39-13648dupTTTTTTTTTTTTTTTTT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76225579	A A	ACGCTGCC others(10): Show ACGCTGCCAGAGACAAGG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	322	0.0031	17	c.-39 others(34): Show c.-39-9448_-39-9432dupCGCTGCCAGAGACAAGG	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76236005	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0321 a0007c0013t0001g0321	1	117	0.0085	17	c.233 others(32): Show c.233+715_233+731dupAAAAAAAAAAAAAAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar

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