Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01123.hp2 others(6): Show HG00280.hp1 HG00621.hp1 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG02300.hp2 NA18990.hp2 NA18998.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0021 others(6): Show a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049	9	302	0.0298	34	c.949 others(51): Show c.949+5616_949+5617insAAAAAAAAAAAAAATATATATATATATA TATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp1 HG02738.hp2 HG00438.hp2 HG02129.hp1 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0042 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0042	3	302	0.0099	34	c.949 others(51): Show c.949+5616_949+5617insAAAAAAAAAAAATATATATATATATATA TATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(27): Show ATATATATATTTATATATATAAATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(49): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00733.hp2 HG00741.hp2 HG01081.hp2 HG01167.hp1 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02055.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 NA18906.hp1 NA18945.hp2 NA18963.hp1 NA18978.hp1 NA18994.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp1 NA19012.hp2 NA19056.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0019 others(6): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0019 a0001c0001t0033 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0002t0025 a0001c0002t0048	a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 others(49): Show a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0254 a0001c0001t0003g0266 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0300 a0001c0001t0003g0323 a0001c0001t0003g0325 a0001c0001t0003g0353 a0001c0001t0008g0087 a0001c0001t0008g0092 a0001c0001t0008g0098 a0001c0001t0008g0107 a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0001t0008g0117 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0127 a0001c0001t0008g0128 a0001c0001t0019g0091 a0001c0001t0019g0102 a0001c0001t0019g0103 a0001c0001t0019g0119 a0001c0001t0033g0009 a0001c0001t0033g0063 a0001c0001t0070g0116 a0001c0001t0071g0106 a0001c0001t0073g0118 a0001c0002t0025g0158 a0001c0002t0025g0230 a0001c0002t0048g0227	52	382	0.1361	34	c.159 others(51): Show c.1597-365_1597-364insTTATATATATAAATATATATATTTTTAT ATATAT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOBP_chr6_107485117_107666306	107564581	A A	AACTAACT others(27): Show AACTAACTAACTAACTAACTAACTAACTAACTAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02735.hp1 HG02895.hp1 others(12): Show HG01243.hp2 HG02735.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03490.hp1 HG03516.hp1 HG03834.hp2 HG06807.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0042	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0096 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0096 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0002g0061 a0001c0001t0002g0155 a0001c0001t0003g0211 a0001c0001t0005g0139 a0001c0001t0006g0288 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0007g0205 a0001c0001t0042g0216	15	296	0.0507	34	c.574 others(53): Show c.574-22499_574-22498insACTAACTAACTAACTAACTAACTAAC TAACTAAC	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	4/6			chr6	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	394	0.0025	34	c.-90 others(51): Show c.-90-1143_-90-1142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS7_chr17_38346844_38410593	38387101	A A	ATATATAT others(27): Show ATATATATATATATATATATATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0025 a0001c0002t0015g0025	1	289	0.0035	34	c.168 others(53): Show c.1682-8208_1682-8207insTATATATATATATATATATATGTATG TATGTATG	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9			chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389865	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATGTACATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0172 a0001c0001t0017g0172	1	289	0.0035	34	c.168 others(53): Show c.1682-5442_1682-5441insTATATATATATATATATATATATGTA CATATATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389865	G G	GTATATAT others(27): Show GTATATATATATATATATATATATGTACATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0189 a0001c0001t0019g0189	1	289	0.0035	34	c.168 others(53): Show c.1682-5442_1682-5441insTATATATATATATATATATATGTACA TATATATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389892	T T	TATATATA others(27): Show TATATATATGTACATATATATATATATATATGTAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0023 a0001c0004t0030g0023	1	289	0.0035	34	c.168 others(53): Show c.1682-5410_1682-5409insTGTACATATATATATATATATATGTA CATATATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
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	a0001c0012t0001g0041 a0001c0012t0001g0042 a0001c0012t0001g0041 a0001c0012t0001g0042	2	282	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	312	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	a0001c0028t0028 a0001c0028t0028	a0001c0028t0028g0152 a0001c0028t0028g0152	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	168	0.0060	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	a0001c0001t0007 a0001c0003t0001 a0001c0001t0007 a0001c0003t0001	a0001c0001t0007g0063 a0001c0003t0001g0081 a0001c0001t0007g0063 a0001c0003t0001g0081	2	168	0.0119	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	a0001c0047t0071 a0001c0047t0071	a0001c0047t0071g0051 a0001c0047t0071g0051	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	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0060 a0002c0004t0008g0060	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	134	0.0075	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	246	0.0041	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	212	0.0047	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	218	0.0046	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	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0137 a0014c0016t0001g0137	1	336	0.0030	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	a0001c0001t0001g0133 a0001c0001t0001g0133	1	336	0.0030	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	a0001c0001t0001g0282 a0001c0001t0001g0282	1	350	0.0029	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	a0001c0001t0001g0227 a0001c0001t0001g0227	1	350	0.0029	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	205	0.0049	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	a0003c0003t0001g0028 a0003c0003t0001g0028	1	86	0.0116	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	86	0.0233	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	86	0.0116	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	86	0.0116	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 a0015 a0002 a0015	a0002c0002 a0002c0008 a0015c0022 a0002c0002 a0002c0008 a0015c0022	a0002c0002t0001 a0002c0008t0001 a0015c0022t0001 a0002c0002t0001 a0002c0008t0001 a0015c0022t0001	a0002c0002t0001g0011 a0002c0002t0001g0021 a0002c0002t0001g0024 others(12): Show a0002c0002t0001g0011 a0002c0002t0001g0021 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0051 a0002c0002t0001g0263 a0002c0008t0001g0046 a0015c0022t0001g0038	15	266	0.0564	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	a0003c0004t0001g0072 a0003c0004t0001g0072	1	366	0.0027	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	330	0.0030	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	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0156 a0003c0006t0001g0156	1	330	0.0030	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	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0043 a0011c0012t0001g0043	1	330	0.0030	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	a0001c0001t0001g0117 a0001c0001t0001g0117	1	330	0.0030	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	330	0.0030	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	342	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	342	0.0059	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	a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0004g0011 others(1): Show a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0004g0011 a0001c0001t0004g0033	4	342	0.0117	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	a0001c0001t0003g0026 a0001c0001t0003g0064 a0001c0001t0009g0070 others(1): Show a0001c0001t0003g0026 a0001c0001t0003g0064 a0001c0001t0009g0070 a0001c0001t0009g0072	4	342	0.0117	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	a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0151 a0001c0001t0001g0153	2	342	0.0059	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	342	0.0029	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	342	0.0029	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	a0001c0001t0002g0237 a0001c0001t0002g0265 a0001c0001t0002g0237 a0001c0001t0002g0265	2	342	0.0059	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 a0014 a0001 a0014	a0001c0005 a0014c0033 a0001c0005 a0014c0033	a0001c0005t0046 a0014c0033t0126 a0001c0005t0046 a0014c0033t0126	a0001c0005t0046g0216 a0014c0033t0126g0252 a0001c0005t0046g0216 a0014c0033t0126g0252	2	356	0.0056	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 a0008 a0001 a0008	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0041 a0008c0016 a0008c0021	a0001c0002t0001 a0001c0002t0008 a0001c0002t0013 others(8): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0013 a0001c0002t0039 a0001c0002t0049 a0001c0002t0051 a0001c0003t0020 a0001c0004t0001 a0001c0041t0005 a0008c0016t0001 a0008c0021t0119	a0001c0002t0001g0053 a0001c0002t0001g0105 a0001c0002t0008g0103 others(9): Show a0001c0002t0001g0053 a0001c0002t0001g0105 a0001c0002t0008g0103 a0001c0002t0013g0150 a0001c0002t0039g0079 a0001c0002t0049g0335 a0001c0002t0051g0280 a0001c0003t0020g0107 a0001c0004t0001g0045 a0001c0041t0005g0161 a0008c0016t0001g0113 a0008c0021t0119g0266	12	356	0.0337	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 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0030 a0002c0008 a0004c0014	a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 others(15): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0028 a0001c0002t0001 a0001c0002t0010 a0001c0002t0013 a0001c0002t0043 a0001c0003t0016 a0001c0003t0020 a0001c0003t0034 a0001c0004t0001 a0001c0004t0038 a0001c0006t0010 a0001c0009t0010 a0001c0030t0042 a0002c0008t0025 a0004c0014t0036	a0001c0001t0003g0213 a0001c0001t0003g0303 a0001c0001t0004g0210 others(16): Show a0001c0001t0003g0213 a0001c0001t0003g0303 a0001c0001t0004g0210 a0001c0001t0020g0124 a0001c0001t0028g0219 a0001c0002t0001g0053 a0001c0002t0010g0323 a0001c0002t0013g0348 a0001c0002t0043g0193 a0001c0003t0016g0092 a0001c0003t0020g0107 a0001c0003t0034g0036 a0001c0004t0001g0078 a0001c0004t0038g0108 a0001c0006t0010g0239 a0001c0009t0010g0294 a0001c0030t0042g0157 a0002c0008t0025g0178 a0004c0014t0036g0201	19	356	0.0534	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	252	0.0040	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	252	0.0040	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

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