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
SOGA1_chr20_36772447_36868538	36810725	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03130.hp2 HG02109.hp1 HG03130.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0042 a0001c0012t0001g0043 a0001c0012t0001g0042 a0001c0012t0001g0043	2	280	0.0071	34	c.245 others(51): Show c.2458-619_2458-618insGGAGAGAGAGAGAGAGAGGGAGAGAGAG AGAGAG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	6/14			chr20	TogoVar
SORBS2_chr4_185580523_185817194	185740034	A A	AGAGCCCA others(27): Show AGAGCCCAACACGGTGAGTTTGCTTCCTAGGAATG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	310	0.0032	34	c.-96 others(51): Show c.-96-5914_-96-5881dupCATTCCTAGGAAGCAAACTCACCGTGTT GGGCTC	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7292264	C C	CGTTCACC others(27): Show CGTTCACCAAGGAGGCTCCCCACCATTCGCAGTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0027 a0001c0028t0027	a0001c0028t0027g0152 a0001c0028t0027g0152	1	168	0.0060	34	c.480 others(53): Show c.480+99196_480+99229dupATTCGCAGTCTGTTCACCAAGGAGGC TCCCCACC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0044 a0001c0053t0001g0044	1	31	0.0323	34	c.481 others(53): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG06807.hp2 HG02015.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0001 a0001c0001t0008 a0001c0003t0001	a0001c0001t0008g0063 a0001c0003t0001g0081 a0001c0001t0008g0063 a0001c0003t0001g0081	2	32	0.0625	34	c.481 others(53): Show c.481-22809_481-22808insATATATATATATATATATATATATAT TTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7421848	T T	TGGGCTTG others(27): Show TGGGCTTGCAGGAGAGGGAGTGCAGGGGCTGGGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0057 a0001c0047t0057	a0001c0047t0057g0051 a0001c0047t0057g0051	1	168	0.0060	34	c.548 others(53): Show c.548+25513_548+25546dupTGCAGGGGCTGGGGCGGGCTTGCAGG AGAGGGAG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7421868	T T	TGCAGGGG others(27): Show TGCAGGGGCTGGGGCGGGCTTGCAGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0060 a0002c0004t0009g0060	1	168	0.0060	34	c.548 others(53): Show c.548+25531_548+25564dupCTTGCAGGAGAGGGAGGGCAGGGGCT GGGGCGGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	105016155	A A	ATATATAT others(27): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	66	0.0152	34	c.955 others(53): Show c.955-26899_955-26898insATATATATATATATTTTTTTTTTTTT TTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	50	0.0200	34	c.865 others(51): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0008 a0001c0001t0113g0008	1	153	0.0065	34	c.34 others(45): Show c.3400_*3401insGCACACACACACACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX6_chr11_15961449_16361546	16107395	G G	GTATATAT others(27): Show GTATATATATATGTATATATATACATATATATGTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	213	0.0047	34	c.898 others(51): Show c.898+4407_898+4408insTACATATATATGTATATATATACATATA TATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	7/15			chr11	TogoVar
SP140L_chr2_230322193_230408732	230354848	G G	GGAGAAAG others(27): Show GGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0127 a0012c0016t0001g0127	1	132	0.0076	34	c.108 others(51): Show c.108-2955_108-2954insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	270	0.0037	34	c.108 others(51): Show c.108-2908_108-2907insAAAGAAAGAAAGAAAAGAAAAGAAAGAA AGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACDR_chr7_100451620_100469260	100457801	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	221	0.0045	34	c.388 others(49): Show c.388-817_388-816insCACACACACACACACACACACACACACACA CACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	33	0.0303	34	c.388 others(49): Show c.388-852_388-819dupCACACACACACACACACACACACACACACA CACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	6	0.1667	34	c.24 others(45): Show c.2410_*2411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	214177910	T T	TATATATA others(27): Show TATATATATACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0029	1	80	0.0125	34	c.172 others(55): Show c.1720+28649_1720+28650insTATACATATATATATATATATATA TATACATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214177916	C C	CATATATA others(27): Show CATATATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG02559.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0007 a0001c0001t0002g0008	2	17	0.1176	34	c.172 others(55): Show c.1720+28668_1720+28669insATATATATACATATATATATATAT ATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352558	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	26	0.0385	34	c.172 others(55): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352565	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	62	0.0161	34	c.172 others(55): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGTGTGTGA GTGTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352572	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	86	0.0116	34	c.172 others(55): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp2 HG02135.hp1 others(12): Show HG00597.hp1 HG02080.hp2 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG04204.hp1 NA18943.hp1 NA18972.hp1 NA18981.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA19062.hp2 NA19081.hp2 NA19084.hp2	a0002 a0019 a0002 a0019	a0002c0002 a0002c0008 a0019c0022 a0002c0002 a0002c0008 a0019c0022	a0002c0002t0001 a0002c0008t0001 a0019c0022t0001 a0002c0002t0001 a0002c0008t0001 a0019c0022t0001	a0002c0002t0001g0011 a0002c0002t0001g0021 a0002c0002t0001g0024 others(12): Show a0002c0002t0001g0011 a0002c0002t0001g0021 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0051 a0002c0002t0001g0263 a0002c0008t0001g0047 a0019c0022t0001g0038	15	221	0.0679	34	c.135 others(53): Show c.1359+2251_1359+2252insTCACACACACACACACACACACACAC ACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0071 a0003c0004t0001g0071	1	112	0.0089	34	c.300 others(51): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	136	0.0074	34	c.-18 others(45): Show c.-1805_-1804insATATATATATATATATATATTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0156 a0006c0006t0001g0156	1	136	0.0074	34	c.-18 others(45): Show c.-1805_-1804insATATATATATATATATATATATATATATTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAT others(27): Show AAAAAAATATATATATAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0043 a0009c0012t0001g0043	1	136	0.0074	34	c.-18 others(45): Show c.-1805_-1804insATATATATATATATATATTATATATATATTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	136	0.0074	34	c.-18 others(45): Show c.-1805_-1804insATATATATATATATATATATATATATATATTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	136	0.0074	34	c.-18 others(45): Show c.-1805_-1804insATATATATATATATATATATATATATATATATTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAST_chr2_32058556_32162637	32110575	A A	ATATATAG others(27): Show ATATATAGTGTATATATCGTATATACACTATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20300.hp2 HG02818.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0212 a0001c0001t0004g0198 a0001c0001t0004g0212	2	338	0.0059	34	c.683 others(51): Show c.683-4046_683-4013dupCGTATATACACTATATACTATATAGTGT ATATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32110849	A A	ATATAGAG others(27): Show ATATAGAGTATATATACAGTATACTATATCGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18942.hp2 NA18522.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0315 a0001c0001t0005g0192 a0001c0001t0002g0315 a0001c0001t0005g0192	2	151	0.0132	34	c.683 others(51): Show c.683-3556_683-3523dupCGTGTGTATAGAGTATATATACAGTATA CTATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111048	C C	CGTGTGTA others(27): Show CGTGTGTATAGAGTATATATACAGTATACTATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02300.hp1 NA18972.hp1 others(1): Show HG01516.hp2 HG02300.hp1 NA18972.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0004g0031 others(1): Show a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0004g0031 a0001c0001t0004g0058	4	299	0.0134	34	c.683 others(51): Show c.683-3557_683-3556insAGTGTGTATAGAGTATATATACAGTATA CTATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111082	C C	CGTGTGTA others(27): Show CGTGTGTATAGAGTATATATACAGTATACTATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03491.hp2 NA18939.hp2 others(1): Show HG03471.hp2 HG03491.hp2 NA18939.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0024 a0001c0001t0003g0064 a0001c0001t0009g0070 others(1): Show a0001c0001t0003g0024 a0001c0001t0003g0064 a0001c0001t0009g0070 a0001c0001t0009g0072	4	271	0.0148	34	c.683 others(51): Show c.683-3443_683-3410dupAGTATATATACAGTATACTATATAGTGT GTATAG	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111116	A A	AGTGTGTA others(27): Show AGTGTGTATAGAGTATATATACAGTATACTATATC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18963.hp2 NA18955.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0150 a0001c0001t0001g0153	2	259	0.0077	34	c.683 others(51): Show c.683-3489_683-3488insCGTGTGTATAGAGTATATATACAGTATA CTATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111282	A A	ATATAGTG others(27): Show ATATAGTGTGTATAGCGTATATATACAGTATACTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0193	1	329	0.0030	34	c.683 others(51): Show c.683-3297_683-3264dupCAGTATACTGTATAGTGTGTATAGCGTA TATATA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111316	G G	GTATAGTG others(27): Show GTATAGTGTGTATAGCATATATATACAGTATACTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	173	0.0058	34	c.683 others(51): Show c.683-3307_683-3306insATATATATACAGTATACTATATAGTGTG TATAGC	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111365	C C	CGTATATA others(27): Show CGTATATATACAGTATACTGTATAGTGTGTATAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18964.hp2 HG01515.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0267 a0001c0001t0002g0239 a0001c0001t0002g0267	2	31	0.0645	34	c.683 others(51): Show c.683-3264_683-3263insCAGTATACTGTATAGTGTGTATAGAGTA TATATA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAA others(27): Show TTATATAATTATATAATATATTACGTAATATATTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01261.hp2 HG00140.hp1 HG01261.hp2	a0001 a0010 a0001 a0010	a0001c0005 a0010c0033 a0001c0005 a0010c0033	a0001c0005t0047 a0010c0033t0126 a0001c0005t0047 a0010c0033t0126	a0001c0005t0047g0216 a0010c0033t0126g0252 a0001c0005t0047g0216 a0010c0033t0126g0252	2	36	0.0556	34	c.-11 others(55): Show c.-112+29033_-112+29034insTAATATATTACGTAATATATTATA TATAATTATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(27): Show TATAATGATATATAATATATATCATATAACATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00673.hp1 others(9): Show HG00438.hp2 HG00544.hp1 HG00673.hp1 HG01109.hp2 HG02015.hp2 HG02056.hp2 HG02083.hp1 HG02132.hp2 NA18946.hp2 NA18979.hp2 NA19055.hp1 NA19080.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0041 a0006c0016 a0006c0021	a0001c0002t0001 a0001c0002t0008 a0001c0002t0016 others(8): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0016 a0001c0002t0040 a0001c0002t0050 a0001c0002t0052 a0001c0003t0020 a0001c0004t0001 a0001c0041t0005 a0006c0016t0001 a0006c0021t0119	a0001c0002t0001g0053 a0001c0002t0001g0103 a0001c0002t0008g0101 others(9): Show a0001c0002t0001g0053 a0001c0002t0001g0103 a0001c0002t0008g0101 a0001c0002t0016g0148 a0001c0002t0040g0077 a0001c0002t0050g0335 a0001c0002t0052g0280 a0001c0003t0020g0105 a0001c0004t0001g0045 a0001c0041t0005g0161 a0006c0016t0001g0111 a0006c0021t0119g0266	12	65	0.1846	34	c.-11 others(55): Show c.-112+29225_-112+29226insATGATATATAATATATATCATATA ACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01081.hp1 HG01943.hp1 others(16): Show HG00673.hp2 HG01081.hp1 HG01943.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02257.hp2 HG02809.hp1 HG03239.hp1 HG03540.hp2 NA18943.hp1 NA18971.hp1 NA19002.hp1 NA19030.hp1 NA19043.hp1 NA19080.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0030 a0002c0008 a0003c0014	a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 others(15): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0028 a0001c0002t0001 a0001c0002t0010 a0001c0002t0016 a0001c0002t0044 a0001c0003t0015 a0001c0003t0020 a0001c0003t0034 a0001c0004t0001 a0001c0004t0039 a0001c0006t0010 a0001c0009t0010 a0001c0030t0043 a0002c0008t0025 a0003c0014t0036	a0001c0001t0003g0213 a0001c0001t0003g0303 a0001c0001t0004g0210 others(16): Show a0001c0001t0003g0213 a0001c0001t0003g0303 a0001c0001t0004g0210 a0001c0001t0020g0122 a0001c0001t0028g0219 a0001c0002t0001g0053 a0001c0002t0010g0323 a0001c0002t0016g0348 a0001c0002t0044g0193 a0001c0003t0015g0090 a0001c0003t0020g0105 a0001c0003t0034g0036 a0001c0004t0001g0076 a0001c0004t0039g0106 a0001c0006t0010g0240 a0001c0009t0010g0294 a0001c0030t0043g0155 a0002c0008t0025g0178 a0003c0014t0036g0201	19	109	0.1743	34	c.65 others(45): Show c.6510_*6511insTATATATATATATATATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	20	0.0500	34	c.519 others(51): Show c.519+7888_519+7889insCTCTCTCTCTATATATATATATATATAT ATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0218 a0001c0003t0003g0218	1	20	0.0500	34	c.519 others(51): Show c.519+7888_519+7889insCTCTCTCTCTCTATATATATATATATAT ATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	116	0.0086	34	c.329 others(51): Show c.329+3627_329+3628insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31A6_chr9_42178659_42194887	42194567	G G	GCATTCTC others(27): Show GCATTCTCTAAGATAGGCAGTAGGGATCCATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0027 a0027	a0027c0034 a0027c0034	a0027c0034t0004 a0027c0034t0004	a0027c0034t0004g0020 a0027c0034t0004g0020	1	179	0.0056	34	c.48 others(45): Show c.4833_*4834insCATTCTCTAAGATAGGCAGTAGGGATCCATTTTA	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding		4681		chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	37	0.0270	34	c.293 others(47): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4600483	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0391 a0001c0001t0059g0391	1	221	0.0045	34	c.32 others(43): Show c.327_*328insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	12/12	3696		chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	135	0.0074	34	c.39+ others(49): Show c.39+6751_39+6752insAAAAAAAATATATATATATATATATATATA TATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03516.hp2 NA18941.hp1 others(6): Show HG02015.hp1 HG03516.hp2 NA18941.hp1 NA18946.hp1 NA18975.hp2 NA18990.hp2 NA18994.hp1 NA19030.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0026	a0001c0001t0002g0154 a0001c0001t0002g0238 a0001c0001t0005g0211 others(6): Show a0001c0001t0002g0154 a0001c0001t0002g0238 a0001c0001t0005g0211 a0001c0001t0008g0015 a0001c0001t0008g0018 a0001c0001t0013g0086 a0001c0001t0018g0072 a0001c0001t0026g0236 a0001c0001t0026g0237	9	35	0.2571	34	c.957 others(49): Show c.957+980_957+981insACACACACACACACACACACACACACACAC ACAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18612.hp1 HG04184.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0003g0075 a0001c0001t0001g0076 a0001c0001t0003g0075	2	35	0.0571	34	c.114 others(51): Show c.114+6455_114+6488dupATATATATATATATATATATATATATAT ATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	195	0.0051	34	c.-63 others(55): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134537	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00738.hp1 others(24): Show HG00544.hp1 HG00673.hp2 HG00738.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02300.hp1 HG02602.hp1 HG02622.hp2 HG02738.hp2 HG02886.hp2 HG03139.hp1 HG03490.hp1 HG03540.hp1 HG03579.hp1 NA18954.hp2 NA18967.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA19066.hp1 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0005t0006 a0002c0003t0002 a0002c0003t0010 a0002c0004t0001 a0002c0004t0004 a0002c0004t0016 a0003c0006t0005	a0001c0001t0002g0013 a0001c0001t0002g0206 a0001c0001t0003g0041 others(24): Show a0001c0001t0002g0013 a0001c0001t0002g0206 a0001c0001t0003g0041 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0062 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0115 a0001c0005t0006g0020 a0002c0003t0002g0202 a0002c0003t0010g0199 a0002c0004t0001g0068 a0002c0004t0001g0116 a0002c0004t0001g0168 a0002c0004t0004g0093 a0002c0004t0004g0138 a0002c0004t0016g0141 a0003c0006t0005g0128 a0003c0006t0005g0132 a0003c0006t0005g0133	27	35	0.7714	34	c.-63 others(55): Show c.-639-18996_-639-18995insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar

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