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
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	328	0.0030	30	c.-58 others(39): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX5_chr12_23524504_23954670	23530798	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp1 NA19003.hp1 NA19005.hp2 HG03710.hp1 NA19003.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0051 a0001c0001t0019 a0001c0002t0051	a0001c0001t0019g0066 a0001c0001t0019g0075 a0001c0002t0051g0070 a0001c0001t0019g0066 a0001c0001t0019g0075 a0001c0002t0051g0070	3	80	0.0375	30	c.34 others(41): Show c.3420_*3421insACACACACACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3420		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 NA18959.hp1 HG00741.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0040 a0001c0001t0030g0099 a0001c0001t0030g0040 a0001c0001t0030g0099	2	154	0.0130	30	c.34 others(41): Show c.3400_*3401insGCGCGCGCGCACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0156 a0001c0001t0060g0156	1	153	0.0065	30	c.34 others(41): Show c.3400_*3401insGCGCACACACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23671251	T T	TATATCAG others(23): Show TATATCAGCACAATTACAAATAAACTGTAAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0088 a0001c0001t0016g0088	1	210	0.0048	30	c.811 others(47): Show c.811-5717_811-5688dupGTTACAGTTTATTTGTAATTGTGCTGAT AT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704715	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0178 a0001c0001t0091g0178	1	142	0.0070	30	c.810 others(49): Show c.810+29968_810+29969insGTGTGTGTGTATATATATATATATAT ATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23715292	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03704.hp2 NA19030.hp2 others(1): Show HG01891.hp1 HG03704.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0084 a0001c0001t0090 others(1): Show a0001c0001t0042 a0001c0001t0084 a0001c0001t0090 a0001c0001t0119	a0001c0001t0042g0077 a0001c0001t0084g0207 a0001c0001t0090g0072 others(1): Show a0001c0001t0042g0077 a0001c0001t0084g0207 a0001c0001t0090g0072 a0001c0001t0119g0020	4	130	0.0308	30	c.810 others(49): Show c.810+19391_810+19392insATTTTATTTTATTTTATTTTATTTTA TTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23779814	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0077 a0001c0001t0042g0077	1	71	0.0141	30	c.482 others(49): Show c.482-24091_482-24090insGTGTATATATATATATATATATATAT ATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16107407	A A	ATATATAT others(23): Show ATATATATACATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp1 HG02258.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0023 a0001c0001t0003g0032 a0001c0001t0001g0023 a0001c0001t0003g0032	2	143	0.0140	30	c.898 others(47): Show c.898+4395_898+4396insCATATATATATACATATATATGTATATA TA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	7/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230497488	G G	GGAGGAGA others(23): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG03927.hp2 HG02055.hp1 HG02886.hp2 HG03927.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0004 a0004c0006 a0001c0003 a0003c0004 a0004c0006	a0001c0003t0004 a0003c0004t0004 a0004c0006t0004 a0001c0003t0004 a0003c0004t0004 a0004c0006t0004	a0001c0003t0004g0249 a0003c0004t0004g0051 a0004c0006t0004g0180 a0001c0003t0004g0249 a0003c0004t0004g0051 a0004c0006t0004g0180	3	204	0.0147	30	c.164 others(47): Show c.1646-942_1646-913dupGAGGAGAGGAGAGGAGAGGAGAGGAGAG GA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497534	G G	GAGGAAAG others(23): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0212 a0001c0003t0003g0212	1	197	0.0051	30	c.164 others(47): Show c.1646-923_1646-922insAAGGAAAGGAAAGGAAAGGAAAGGAAAG GA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	G G	GAGGAAAG others(23): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03927.hp2 HG01106.hp1 HG03927.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0004c0006 a0002c0005 a0004c0006	a0002c0005t0013 a0004c0006t0004 a0002c0005t0013 a0004c0006t0004	a0002c0005t0013g0106 a0004c0006t0004g0180 a0002c0005t0013g0106 a0004c0006t0004g0180	2	144	0.0139	30	c.164 others(47): Show c.1646-872_1646-843dupAAGGAAAGGAAAGGAAAGGAAAGGAAAG GA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP110_chr2_230160186_230224984	230224425	A A	AAGAGGGA others(23): Show AAGAGGGAGGGAGAGGGAGGGAGAGAGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0019 a0010c0009t0019	a0010c0009t0019g0322 a0010c0009t0019g0322	1	426	0.0023	30	c.-45 others(41): Show c.-4583_-4554dupCCCTCTCTCTCCCTCCCTCTCCCTCCCTCT	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding		4442		chr2	TogoVar
SP140_chr2_230220736_230318215	230224425	A A	AAGAGGGA others(23): Show AAGAGGGAGGGAGAGGGAGGGAGAGAGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0104 a0003c0005t0003g0104	1	368	0.0027	30	c.-14 others(41): Show c.-1420_-1419insAGAGGGAGGGAGAGGGAGGGAGAGAGAGGG	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding		1310		chr2	TogoVar
SP140_chr2_230220736_230318215	230259771	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01169.hp1 HG03239.hp2 others(2): Show HG01123.hp1 HG01169.hp1 HG03239.hp2 HG03516.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0004 a0001c0006 a0003c0004	a0001c0006t0002 a0003c0004t0003 a0001c0006t0002 a0003c0004t0003	a0001c0006t0002g0007 a0001c0006t0002g0044 a0003c0004t0003g0008 others(1): Show a0001c0006t0002g0007 a0001c0006t0002g0044 a0003c0004t0003g0008 a0003c0004t0003g0042	5	172	0.0291	30	c.124 others(49): Show c.1240+4264_1240+4265insTATATATATATATATATATATATATA TATA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173933638	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	1	88	0.0114	30	c.164 others(51): Show c.1640-14883_1640-14854dupTATATATATATATATATATATATA TATATA	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP8_chr7_20777279_20791886	20781217	A A	AGACAGCA others(23): Show AGACAGCAGGATTAAAGGTGTCACCTACTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	414	0.0024	30	c.30 others(41): Show c.3072_*3073insCAAGTAGGTGACACCTTTAATCCTGCTGTC	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		1061		chr7	TogoVar
SP9_chr2_174329954_174343500	174333407	A A	ACGGGGGG others(23): Show ACGGGGGGGGGGGGGGGGGGGTGGGGGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	402	0.0025	30	c.-16 others(41): Show c.-1686_-1685insCGGGGGGGGGGGGGGGGGGGTGGGGGAGTG	SP9	ENSG00000217236.2	transcript	ENST00000394967.3	protein_coding		1546		chr2	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19076.hp1 NA18953.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	34	0.0588	30	c.388 others(45): Show c.388-848_388-819dupCACACACACACACACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19058.hp2 NA19057.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0112 a0001c0001t0001g0019 a0001c0001t0001g0112	2	7	0.2857	30	c.23 others(41): Show c.2381_*2410dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(23): Show TATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG06807.hp2 HG02895.hp1 HG06807.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0010 a0002c0002 a0008c0010	a0002c0002t0001 a0008c0010t0001 a0002c0002t0001 a0008c0010t0001	a0002c0002t0001g0051 a0008c0010t0001g0002 a0002c0002t0001g0051 a0008c0010t0001g0002	2	39	0.0513	30	c.140 others(51): Show c.1401-33225_1401-33224insTATATATATATATATATATAGAGA GAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	38	0.0263	30	c.140 others(51): Show c.1401-33225_1401-33224insTATATATATATATATATATATATA GAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214031598	T T	TAATAAAA others(23): Show TAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	24	0.0417	30	c.152 others(51): Show c.1527+17547_1527+17548insATAAAATAAAATAAAATAAAATAA AATAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214258471	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	38	0.0263	30	c.172 others(53): Show c.1720+109206_1720+109207insGTGTGTGTGTATATATATATAT ATATATAT	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(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp1 HG03831.hp1 others(6): Show HG02109.hp1 HG03471.hp1 HG03831.hp1 NA18992.hp1 NA18993.hp1 NA19000.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0003 a0011c0009 a0001c0001 a0003c0003 a0011c0009	a0001c0001t0002 a0003c0003t0001 a0003c0003t0003 others(1): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0003 a0011c0009t0001	a0001c0001t0002g0006 a0003c0003t0001g0029 a0003c0003t0001g0034 others(6): Show a0001c0001t0002g0006 a0003c0003t0001g0029 a0003c0003t0001g0034 a0003c0003t0001g0045 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0003g0019 a0011c0009t0001g0085	9	70	0.1286	30	c.172 others(51): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGTGAGTGT GTGTGT	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(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01346.hp1 others(9): Show HG00735.hp2 HG01109.hp1 HG01346.hp1 HG01934.hp1 HG02056.hp2 HG02071.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG04228.hp1 NA18967.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0020 others(8): Show a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0069	12	218	0.0550	30	c.135 others(49): Show c.1359+2251_1359+2252insTCACACACACACACACACACACACAC ACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01934.hp2 NA19063.hp2 HG01074.hp1 HG01934.hp2 NA19063.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0006t0001 a0003c0004t0001 a0003c0006t0001	a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0006t0001g0069 a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0006t0001g0069	3	114	0.0263	30	c.300 others(47): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	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(23): Show AAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	136	0.0074	30	c.-18 others(41): Show c.-1805_-1804insATATATATATATATATATATTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	136	0.0074	30	c.-18 others(41): Show c.-1805_-1804insATATATATATATATATATATATATATTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20129.hp2 HG02922.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0132 a0002c0002t0001g0134	2	79	0.0253	30	c.146 others(49): Show c.1460+2532_1460+2533insATATATATATATATATATATATATAT ATAT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATATAT others(23): Show ATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	100	0.0100	30	c.416 others(47): Show c.416-3715_416-3714insATATATATTTTTTTTTTTTTTTTTTTTT TT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32109875	T T	TACATATA others(23): Show TACATATATAGTTACATATGTATATGCATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(117): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0074 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0223 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0002g0155 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0091 a0001c0001t0007g0099 a0001c0001t0007g0165 a0001c0001t0007g0187 a0001c0001t0010g0106 a0001c0001t0017g0169 a0001c0001t0018g0114 a0001c0001t0020g0183 a0001c0001t0027g0144	120	339	0.3540	30	c.683 others(47): Show c.683-4733_683-4704dupCACATATATAGTTACATATGTATATGCA TA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32109905	C C	CACATATA others(23): Show CACATATATAGTTACATATGTATATGCATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG02280.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0198 a0001c0001t0004g0199	2	340	0.0059	30	c.683 others(47): Show c.683-4707_683-4678dupCATATACATATATAGTTACATATGTATA TG	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111030	A A	ATATACAG others(23): Show ATATACAGTATACTATATCGTGTGTATAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02109.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0105 a0001c0001t0001g0110	2	340	0.0059	30	c.683 others(47): Show c.683-3603_683-3574dupCAGTATACTATATCGTGTGTATAGAGTA TA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24309282	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0222 a0001c0002t0033g0222	1	354	0.0028	30	c.65 others(41): Show c.6509_*6510insATATATATATATATATATATATATATATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2214		chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG01074.hp2 others(28): Show HG00280.hp1 HG00544.hp1 HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01928.hp2 HG02027.hp1 HG02040.hp1 HG02258.hp2 HG02523.hp1 HG02622.hp1 HG02723.hp2 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03669.hp1 HG03942.hp2 HG04184.hp2 NA18906.hp2 NA18947.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18992.hp2 NA19001.hp1 NA19010.hp2 NA19079.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0031 a0002c0007 a0003c0014 a0004c0011 a0007c0015 a0009c0042	a0001c0001t0003 a0001c0001t0004 a0001c0001t0024 others(24): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0024 a0001c0001t0034 a0001c0001t0066 a0001c0001t0104 a0001c0002t0016 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0050 a0001c0003t0028 a0001c0004t0001 a0001c0004t0079 a0001c0005t0003 a0001c0005t0107 a0001c0006t0001 a0001c0006t0010 a0001c0006t0016 a0001c0009t0001 a0001c0013t0130 a0001c0031t0001 a0002c0007t0018 a0003c0014t0048 a0004c0011t0010 a0007c0015t0069 a0009c0042t0067	a0001c0001t0003g0024 a0001c0001t0003g0291 a0001c0001t0004g0128 others(28): Show a0001c0001t0003g0024 a0001c0001t0003g0291 a0001c0001t0004g0128 a0001c0001t0004g0133 a0001c0001t0024g0040 a0001c0001t0034g0048 a0001c0001t0066g0151 a0001c0001t0104g0030 a0001c0002t0016g0182 a0001c0002t0041g0046 a0001c0002t0042g0081 a0001c0002t0043g0098 a0001c0002t0050g0335 a0001c0003t0028g0260 a0001c0004t0001g0045 a0001c0004t0079g0179 a0001c0005t0003g0002 a0001c0005t0003g0325 a0001c0005t0107g0015 a0001c0006t0001g0125 a0001c0006t0010g0318 a0001c0006t0016g0212 a0001c0009t0001g0137 a0001c0009t0001g0138 a0001c0013t0130g0197 a0001c0031t0001g0131 a0002c0007t0018g0016 a0003c0014t0048g0235 a0004c0011t0010g0327 a0007c0015t0069g0039 a0009c0042t0067g0341	31	121	0.2562	30	c.65 others(41): Show c.6510_*6511insTATATATATATATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	172959787	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0176 a0004c0006t0001g0176	1	38	0.0263	30	c.934 others(47): Show c.934-2993_934-2964dupATATATATATATATATATATATATATAT AT	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217749983	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0235 a0001c0003t0003g0235	1	148	0.0068	30	c.519 others(47): Show c.519+7886_519+7887insATATATATATATATATATATATATATAT AT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19005.hp1 HG00140.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0023 a0001c0003t0003g0224 a0001c0001t0002g0023 a0001c0003t0003g0224	2	21	0.0952	30	c.519 others(47): Show c.519+7914_519+7915insATATATATATATATATATATATATATAT AT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTATAT others(23): Show CTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	20	0.0500	30	c.519 others(47): Show c.519+7888_519+7889insCTATATATATATATATATATATATATAT AT	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(23): Show CTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	20	0.0500	30	c.519 others(47): Show c.519+7888_519+7889insCTCTCTATATATATATATATATATATAT AT	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(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0225 a0001c0003t0031g0225	1	20	0.0500	30	c.519 others(47): Show c.519+7888_519+7889insCTCTCTCTCTCTCTATATATATATATAT AT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217786750	T T	TTTCTTCT others(23): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0217 a0001c0003t0003g0217	1	36	0.0278	30	c.872 others(47): Show c.872+4462_872+4491dupTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA19_chr11_133835631_133850513	133839252	T T	TTCACAAT others(23): Show TTCACAATAGCAAAGACTTGCAACCAACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	360	0.0028	30	c.16 others(41): Show c.1680_*1681insTGGGTTGGTTGCAAGTCTTTGCTATTGTGA	SPATA19	ENSG00000166118.8	transcript	ENST00000299140.8	protein_coding		1378		chr11	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	116	0.0086	30	c.329 others(47): Show c.329+3627_329+3628insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01934.hp1 HG03239.hp2 others(3): Show HG01515.hp1 HG01934.hp1 HG03239.hp2 NA18941.hp1 NA18982.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0088 a0001c0001t0001g0019 a0001c0001t0001g0088	6	42	0.1429	30	c.293 others(43): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA48_chr7_50090883_50164256	50110812	A A	ATATAATA others(23): Show ATATAATATATAATCATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0300 a0003c0006t0001g0300	1	285	0.0035	30	c.651 others(47): Show c.651+6417_651+6418insTATATATTATATATTATAATATATAATC AT	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	122992978	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18906.hp2 HG00639.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0179 a0001c0001t0020g0180 a0001c0001t0020g0179 a0001c0001t0020g0180	2	68	0.0294	30	c.186 others(51): Show c.1869+13607_1869+13608insGTGTGTGTGTGTGTATGTGTGTGT GTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123118316	A A	ATATATTA others(23): Show ATATATTATATATAATTATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0029 a0001c0001t0047g0029	1	34	0.0294	30	c.234 others(51): Show c.2340+27626_2340+27627insTATATTATATATAATTATATTATA TATAAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0126 a0001c0001t0010g0126	1	127	0.0079	30	c.352 others(45): Show c.352-602_352-601insTATATATATATATATACACACACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar

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