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
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01258.hp2 HG01070.hp2 HG01258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0009 a0002c0004t0009 a0001c0001t0009 a0002c0004t0009	a0001c0001t0009g0142 a0002c0004t0009g0060 a0001c0001t0009g0142 a0002c0004t0009g0060	2	32	0.0625	23	c.481 others(42): Show c.481-22809_481-22808insATATATATATATATATATTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7663174	T T	TGAGTGAA others(16): Show TGAGTGAATGAGTGAGTGAGTGAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0156 a0001c0005t0001g0156	1	168	0.0060	23	c.953 others(40): Show c.953-1160_953-1138dupGTGAAGAGTGAATGAGTGAGTGA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676799	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0147 a0001c0003t0023g0147	1	104	0.0096	23	c.134 others(40): Show c.1341+570_1341+571insCTCTCTCTCTCTCTCTCTCTCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26			chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	6	0.1667	23	c.627 others(42): Show c.627+29376_627+29398dupTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG03516.hp1 others(4): Show HG00741.hp1 HG01106.hp1 HG03516.hp1 HG04115.hp2 NA19002.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0124 a0001c0001t0002g0110 a0001c0001t0003g0033 others(4): Show a0001c0001t0001g0124 a0001c0001t0002g0110 a0001c0001t0003g0033 a0001c0001t0004g0028 a0001c0002t0001g0021 a0001c0002t0001g0043 a0001c0002t0001g0089	7	19	0.3684	23	c.627 others(42): Show c.627+93523_627+93524insTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104794622	G G	GGAGGAGA others(16): Show GGAGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	42	0.0238	23	c.628 others(42): Show c.628-48167_628-48166insGAGAGAGAGAGAGAGAGAGAGAG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940239	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	129	0.0078	23	c.795 others(42): Show c.795+24307_795+24308insATATATATATATATATATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	105129331	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0080 a0001c0001t0009g0080	1	61	0.0164	23	c.121 others(44): Show c.1213-10065_1213-10064insCTCTCTCTCTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02818.hp2 HG02965.hp1 others(2): Show HG01074.hp2 HG02818.hp2 HG02965.hp1 HG03098.hp1 HG03225.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0011 a0001c0012 a0001c0039 others(2): Show a0001c0011 a0001c0012 a0001c0039 a0002c0025 a0011c0064	a0001c0011t0002 a0001c0012t0002 a0001c0039t0002 others(2): Show a0001c0011t0002 a0001c0012t0002 a0001c0039t0002 a0002c0025t0005 a0011c0064t0024	a0001c0011t0002g0271 a0001c0012t0002g0178 a0001c0039t0002g0267 others(2): Show a0001c0011t0002g0271 a0001c0012t0002g0178 a0001c0039t0002g0267 a0002c0025t0005g0179 a0011c0064t0024g0168	5	30	0.1667	23	c.168 others(42): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00741.hp2 others(37): Show HG00323.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp2 HG01192.hp1 HG01258.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02300.hp1 HG02486.hp2 HG02622.hp1 HG02698.hp1 HG02809.hp2 HG02896.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 NA18942.hp1 NA18955.hp2 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA19068.hp2 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0003 others(1): Show a0001c0001 a0001c0008 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0030 a0001c0001t0034 a0001c0008t0003 a0002c0003t0003 a0005c0007t0001	a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0075 others(37): Show a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0109 a0001c0001t0003g0144 a0001c0001t0003g0167 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0004g0006 a0001c0001t0004g0024 a0001c0001t0004g0050 a0001c0001t0004g0057 a0001c0001t0005g0179 a0001c0001t0009g0012 a0001c0001t0010g0013 a0001c0001t0010g0168 a0001c0001t0012g0186 a0001c0001t0012g0188 a0001c0001t0030g0139 a0001c0001t0034g0185 a0001c0008t0003g0119 a0002c0003t0003g0165 a0002c0003t0003g0166 a0005c0007t0001g0104	40	89	0.4494	23	c.865 others(40): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01069.hp1 others(31): Show HG00558.hp2 HG00673.hp2 HG01069.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01346.hp2 HG01433.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02630.hp2 HG02698.hp2 HG02896.hp1 HG03017.hp2 HG03492.hp2 HG03831.hp1 HG04115.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA19000.hp1 NA19012.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp1 NA19078.hp2 NA19083.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0008 a0001c0001 a0001c0003 a0006c0008	a0001c0001t0001 a0001c0003t0001 a0006c0008t0001 a0001c0001t0001 a0001c0003t0001 a0006c0008t0001	a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0131 others(31): Show a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0347 a0001c0003t0001g0350 a0001c0003t0001g0351 a0006c0008t0001g0265	34	80	0.4250	23	c.511 others(38): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01243.hp1 HG02615.hp2 others(3): Show HG01169.hp1 HG01243.hp1 HG02615.hp2 HG02886.hp2 HG03041.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0007 a0001c0003 a0005c0007	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0005c0007t0005	a0001c0003t0001g0000 a0001c0003t0003g0000 a0001c0003t0005g0000 others(1): Show a0001c0003t0001g0000 a0001c0003t0003g0000 a0001c0003t0005g0000 a0005c0007t0005g0000	6	333	0.0180	23	c.-58 others(32): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813039	A A	AAAAAAAA others(16): Show AAAAAAAAAAACAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	400	0.0025	23	c.-58 others(32): Show c.-583_-582insAAAAAAAAAACAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		262		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813042	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	402	0.0025	23	c.-58 others(32): Show c.-580_-579insAAAAAAAAAAAAAAAAAAAAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		259		chr5	TogoVar
SOX11_chr2_5687384_5706385	5699893	T T	TAAAGGAG others(16): Show TAAAGGAGACCTATTTTTATACTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0000 a0001c0001t0083g0000	1	432	0.0023	23	c.58 others(34): Show c.5849_*5871dupAGGAGACCTATTTTTATACTCAA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding	1/1	5872	INFO_REALIGN_3_PRIME	chr2	TogoVar
SOX11_chr2_5687384_5706385	5705807	A A	AGGAGGAG others(16): Show AGGAGGAGCTGGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(240): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(109): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0074 a0001c0001t0081 a0001c0001t0082 a0001c0001t0085 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0114 a0001c0001t0115 a0001c0001t0120 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0127 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0148 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0169 a0001c0001t0170 a0001c0001t0172 a0001c0001t0174 a0001c0001t0176 a0001c0001t0179 a0001c0001t0180 a0001c0001t0181 a0001c0001t0186 a0001c0003t0003 a0001c0004t0161	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(109): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0014g0000 a0001c0001t0016g0000 a0001c0001t0018g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0023g0000 a0001c0001t0026g0000 a0001c0001t0027g0000 a0001c0001t0028g0000 a0001c0001t0032g0000 a0001c0001t0034g0000 a0001c0001t0036g0000 a0001c0001t0037g0000 a0001c0001t0038g0000 a0001c0001t0040g0000 a0001c0001t0043g0000 a0001c0001t0044g0000 a0001c0001t0045g0000 a0001c0001t0048g0000 a0001c0001t0050g0000 a0001c0001t0051g0000 a0001c0001t0052g0000 a0001c0001t0053g0000 a0001c0001t0054g0000 a0001c0001t0055g0000 a0001c0001t0056g0000 a0001c0001t0057g0000 a0001c0001t0058g0000 a0001c0001t0059g0000 a0001c0001t0060g0000 a0001c0001t0061g0000 a0001c0001t0062g0000 a0001c0001t0063g0000 a0001c0001t0064g0000 a0001c0001t0065g0000 a0001c0001t0066g0000 a0001c0001t0067g0000 a0001c0001t0068g0000 a0001c0001t0069g0000 a0001c0001t0070g0000 a0001c0001t0074g0000 a0001c0001t0081g0000 a0001c0001t0082g0000 a0001c0001t0085g0000 a0001c0001t0098g0000 a0001c0001t0101g0000 a0001c0001t0102g0000 a0001c0001t0105g0000 a0001c0001t0106g0000 a0001c0001t0108g0000 a0001c0001t0109g0000 a0001c0001t0110g0000 a0001c0001t0111g0000 a0001c0001t0112g0000 a0001c0001t0114g0000 a0001c0001t0115g0000 a0001c0001t0120g0000 a0001c0001t0122g0000 a0001c0001t0123g0000 a0001c0001t0124g0000 a0001c0001t0127g0000 a0001c0001t0128g0000 a0001c0001t0130g0000 a0001c0001t0131g0000 a0001c0001t0134g0000 a0001c0001t0136g0000 a0001c0001t0137g0000 a0001c0001t0139g0000 a0001c0001t0140g0000 a0001c0001t0141g0000 a0001c0001t0144g0000 a0001c0001t0145g0000 a0001c0001t0146g0000 a0001c0001t0148g0000 a0001c0001t0150g0000 a0001c0001t0151g0000 a0001c0001t0152g0000 a0001c0001t0153g0000 a0001c0001t0154g0000 a0001c0001t0155g0000 a0001c0001t0156g0000 a0001c0001t0157g0000 a0001c0001t0158g0000 a0001c0001t0159g0000 a0001c0001t0160g0000 a0001c0001t0162g0000 a0001c0001t0163g0000 a0001c0001t0164g0000 a0001c0001t0165g0000 a0001c0001t0166g0000 a0001c0001t0169g0000 a0001c0001t0170g0000 a0001c0001t0172g0000 a0001c0001t0174g0000 a0001c0001t0176g0000 a0001c0001t0179g0000 a0001c0001t0180g0000 a0001c0001t0181g0000 a0001c0001t0186g0000 a0001c0003t0003g0000 a0001c0004t0161g0000	243	431	0.5638	23	c.11 others(36): Show c.11760_*11761insGGAGGAGCTGGGGAGGCCGGGGT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4423		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706341	G G	GGGAGGCC others(16): Show GGGAGGCCAGGGTGGAGGAGTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	368	0.0027	23	c.12 others(36): Show c.12294_*12295insGGAGGCCAGGGTGGAGGAGTTGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4957		chr2	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp1 HG01891.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0119 a0001c0001t0117 a0001c0001t0119	a0001c0001t0117g0083 a0001c0001t0119g0020 a0001c0001t0117g0083 a0001c0001t0119g0020	2	13	0.1538	23	c.116 others(42): Show c.1165-2302_1165-2280dupTTTTTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23603432	A A	AATATATA others(16): Show AATATATATATAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0019 a0001c0002t0006g0019	1	210	0.0048	23	c.116 others(40): Show c.1164+932_1164+954dupATATATATATTTTATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23603447	T T	TATATATA others(16): Show TATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	184	0.0054	23	c.116 others(40): Show c.1164+939_1164+940insTTTATATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp1 NA21309.hp2 HG03471.hp2 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0079 a0001c0001t0001 a0001c0001t0079	a0001c0001t0001g0092 a0001c0001t0001g0155 a0001c0001t0079g0197 a0001c0001t0001g0092 a0001c0001t0001g0155 a0001c0001t0079g0197	3	7	0.4286	23	c.811 others(40): Show c.811-8773_811-8772insAAAAAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX8_chr16_976770_991979	981652	G G	GCGGGGGC others(16): Show GCGGGGGCGGCCGGGCTCCGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0010 a0001c0002t0038g0010	1	432	0.0023	23	c.-27 others(32): Show c.-271_-270insCGGGGGCGGCCGGGCTCCGCCTC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		117		chr16	TogoVar
SP2_chr17_47891236_47933957	47927300	A A	AAGGTGGG others(16): Show AAGGTGGGCGGATCACTTGAGGTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	364	0.0027	23	c.174 others(40): Show c.1742-420_1742-398dupTGGGCGGATCACTTGAGGTCAGG	SP2	ENSG00000167182.16	transcript	ENST00000376741.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18953.hp2 HG02698.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0112 a0001c0001t0006g0115	2	19	0.1053	23	c.163 others(44): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP7_chr12_53321575_53341354	53333727	G G	GCTTCCCT others(16): Show GCTTCCCTCTCTGAACCCCACGTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(300): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006 a0003c0007 a0004c0008 a0005c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0004t0001 a0002c0006t0001 a0003c0007t0001 a0004c0008t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0006g0048 a0001c0001t0007g0049 a0001c0001t0008g0050 a0001c0001t0010g0076 a0001c0001t0013g0116 a0001c0001t0014g0090 a0001c0001t0015g0123 a0001c0002t0001g0020 a0001c0002t0005g0037 a0001c0002t0009g0057 a0001c0004t0001g0096 a0002c0006t0001g0106 a0003c0007t0001g0104 a0004c0008t0001g0097 a0005c0009t0001g0107	303	368	0.8234	23	c.21+ others(38): Show c.21+1898_21+1899insAACGTGGGGTTCAGAGAGGGAAG	SP7	ENSG00000170374.6	transcript	ENST00000536324.4	protein_coding	2/2			chr12	TogoVar
SPACA4_chr19_48601742_48612714	48602614	G G	GGAGCCTT others(16): Show GGAGCCTTCCTTGCCTGGGACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	392	0.0026	23	c.-43 others(34): Show c.-4365_-4364insGAGCCTTCCTTGCCTGGGACGGA	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4127		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48135184	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	246	0.0041	23	c.26 others(34): Show c.2655_*2656insAAAAAAAAAAAAAAAAAAAAAAA	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2565		chrX	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02083.hp1 HG01978.hp2 HG02083.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0016 a0005c0004t0001g0010 a0001c0001t0001g0016 a0005c0004t0001g0010	2	5	0.4000	23	c.23 others(34): Show c.2380_*2381insTTTTTTTTTTTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	6	0.1667	23	c.23 others(34): Show c.2388_*2410dupTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18968.hp1 HG03239.hp2 NA18968.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0048 a0003c0003t0001g0033 a0001c0001t0001g0048 a0003c0003t0001g0033	2	55	0.0364	23	c.107 others(46): Show c.1070+152737_1070+152759dupAAAAAAAAAAAAAAAAAAAAAA A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01255.hp1 others(25): Show HG00099.hp1 HG01081.hp2 HG01255.hp1 HG01261.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG02109.hp1 HG02257.hp1 HG02273.hp1 HG02647.hp2 HG02886.hp2 HG02897.hp1 HG03225.hp1 HG03491.hp1 HG03834.hp2 HG04199.hp1 NA18951.hp2 NA18954.hp2 NA18962.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0002c0001 a0002c0005 others(2): Show a0001c0008 a0002c0001 a0002c0005 a0003c0004 a0003c0006	a0001c0008t0002 a0001c0008t0008 a0002c0001t0001 others(3): Show a0001c0008t0002 a0001c0008t0008 a0002c0001t0001 a0002c0005t0002 a0003c0004t0001 a0003c0006t0001	a0001c0008t0002g0006 a0001c0008t0002g0089 a0001c0008t0002g0090 others(24): Show a0001c0008t0002g0006 a0001c0008t0002g0089 a0001c0008t0002g0090 a0001c0008t0002g0240 a0001c0008t0002g0241 a0001c0008t0002g0242 a0001c0008t0008g0243 a0002c0001t0001g0218 a0002c0005t0002g0217 a0002c0005t0002g0239 a0003c0004t0001g0024 a0003c0004t0001g0026 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0081 a0003c0006t0001g0035 a0003c0006t0001g0036 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0041	28	139	0.2014	23	c.300 others(40): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	115	0.0087	23	c.-58 others(32): Show c.-580_-579insAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	136	0.0074	23	c.-18 others(34): Show c.-1805_-1804insATATATTTTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02896.hp2 NA18978.hp2 HG00140.hp1 HG02896.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0144 a0001c0008t0001g0134 a0001c0001t0001g0003 a0001c0001t0001g0144 a0001c0008t0001g0134	3	138	0.0217	23	c.-18 others(34): Show c.-1805_-1804insATATATATTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18970.hp2 NA18966.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0014 a0001c0001t0001g0019	2	137	0.0146	23	c.-18 others(34): Show c.-1805_-1804insATATATATATTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	136	0.0074	23	c.-18 others(34): Show c.-1805_-1804insATATATATATATTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	136	0.0074	23	c.-18 others(34): Show c.-1805_-1804insATATATATATATATTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	136	0.0074	23	c.-18 others(34): Show c.-1805_-1804insATATATATATATATATATTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600765	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	291	0.0034	23	c.-18 others(34): Show c.-1820_-1819insATATATATATATATATATATATA	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1741		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037689	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	283	0.0035	23	c.741 others(40): Show c.741+3811_741+3812insTATATATATATATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02698.hp2 HG04115.hp1 HG00558.hp1 HG02698.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0005t0004g0246 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0005t0004g0246	3	239	0.0126	23	c.741 others(40): Show c.741+3809_741+3810insTATATATATATATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053854	A A	AAGTATAT others(16): Show AAGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0162 a0001c0001t0009g0162	1	238	0.0042	23	c.495 others(40): Show c.495+2557_495+2558insATATATATATATATATATATACT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32083770	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0114 a0001c0001t0018g0114	1	252	0.0040	23	c.416 others(40): Show c.416-3721_416-3720insTTTTTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	100	0.0100	23	c.416 others(40): Show c.416-3715_416-3714insATTTTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	100	0.0100	23	c.416 others(40): Show c.416-3701_416-3700insTTTTTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189730	A A	ATTATATA others(16): Show ATTATATATAAAAGTATATATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00673.hp2 others(19): Show HG00280.hp2 HG00423.hp1 HG00673.hp2 HG01074.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG02486.hp1 HG03669.hp1 HG03942.hp2 HG04204.hp2 NA18945.hp1 NA18951.hp2 NA18959.hp2 NA19009.hp2 NA19010.hp1 NA19066.hp1 NA19070.hp1 NA19081.hp2 NA19090.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0013 a0003c0012 a0003c0014	a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 others(19): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 a0001c0001t0028 a0001c0001t0065 a0001c0002t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0034 a0001c0003t0063 a0001c0004t0009 a0001c0004t0079 a0001c0005t0019 a0001c0006t0001 a0001c0006t0007 a0001c0006t0009 a0001c0006t0012 a0001c0006t0016 a0001c0006t0039 a0001c0013t0018 a0003c0012t0008 a0003c0014t0048	a0001c0001t0005g0177 a0001c0001t0011g0269 a0001c0001t0024g0040 others(19): Show a0001c0001t0005g0177 a0001c0001t0011g0269 a0001c0001t0024g0040 a0001c0001t0028g0219 a0001c0001t0065g0107 a0001c0002t0001g0124 a0001c0003t0004g0163 a0001c0003t0011g0185 a0001c0003t0034g0036 a0001c0003t0063g0258 a0001c0004t0009g0264 a0001c0004t0079g0179 a0001c0005t0019g0041 a0001c0006t0001g0144 a0001c0006t0007g0143 a0001c0006t0009g0312 a0001c0006t0012g0279 a0001c0006t0016g0212 a0001c0006t0039g0187 a0001c0013t0018g0355 a0003c0012t0008g0149 a0003c0014t0048g0235	22	350	0.0629	23	c.-11 others(44): Show c.-112+28798_-112+28799insTTATATATAAAAGTATATATAAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190347	A A	ATTATTTT others(16): Show ATTATTTTATATAACATATGATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19054.hp1 NA19060.hp2 NA18947.hp1 NA19054.hp1 NA19060.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0017 a0001c0005t0047 a0001c0006t0010 a0001c0005t0017 a0001c0005t0047 a0001c0006t0010	a0001c0005t0017g0277 a0001c0005t0047g0317 a0001c0006t0010g0318 a0001c0005t0017g0277 a0001c0005t0047g0317 a0001c0006t0010g0318	3	310	0.0097	23	c.-11 others(44): Show c.-112+29415_-112+29416insTTATTTTATATAACATATGATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03704.hp2 HG02970.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0139 a0001c0001t0001g0069 a0001c0001t0001g0139	2	117	0.0171	23	c.329 others(40): Show c.329+3605_329+3627dupTTTTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31A6_chr9_42178659_42194887	42184503	G G	GTGTTATT others(16): Show GTGTTATTTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0015 a0015	a0015c0043 a0015c0043	a0015c0043t0010 a0015c0043t0010	a0015c0043t0010g0024 a0015c0043t0010g0024	1	51	0.0196	23	c.190 others(38): Show c.190-565_190-564insGTTATTTTTATTTTATTTTATTT	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02004.hp1 HG02155.hp2 others(14): Show HG01358.hp1 HG02004.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02735.hp2 HG03130.hp1 HG03209.hp1 HG03491.hp2 HG03654.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18983.hp1 NA18998.hp2 NA19062.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0001t0001g0070 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0072 a0003c0003t0001g0007	17	53	0.3208	23	c.293 others(36): Show c.293+43_293+65dupTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar

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