JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	350	0.0029	32	c.870 others(49): Show c.870-3535_870-3504dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02258.hp1 HG02027.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0243 a0001c0001t0002g0101 a0001c0001t0002g0243	2	360	0.0056	32	c.995 others(47): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATATATA TA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	360	0.0028	32	c.995 others(47): Show c.995-649_995-648insAAAAAAAAAAAAAAAAAATATATATATATA TA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133669010	C C	CCCCTTAC others(25): Show CCCCTTACCCTCCCTCTCCCTCTCCTTCCCTCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03492.hp1 HG03516.hp1 others(2): Show HG02683.hp2 HG03492.hp1 HG03516.hp1 NA18980.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0020 a0001c0001t0002g0061 a0002c0002t0001g0184 others(2): Show a0001c0001t0002g0020 a0001c0001t0002g0061 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0002g0262	5	262	0.0191	32	c.249 others(51): Show c.2495+1573_2495+1574insAGAGGGAAGGAGAGGGAGAGGGAGGG TAAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669032	A A	ACCCTCCC others(25): Show ACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp2 others(9): Show HG00099.hp1 HG00280.hp1 HG00639.hp2 HG00738.hp1 HG01346.hp2 HG01981.hp2 HG02293.hp2 HG03239.hp2 HG03654.hp1 NA18906.hp2 NA18983.hp1 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0011 others(3): Show a0001c0001 a0001c0006 a0001c0011 a0002c0002 a0002c0005 a0003c0003	a0001c0001t0003 a0001c0006t0003 a0001c0011t0003 others(4): Show a0001c0001t0003 a0001c0006t0003 a0001c0011t0003 a0002c0002t0003 a0002c0002t0004 a0002c0005t0003 a0003c0003t0003	a0001c0001t0003g0164 a0001c0006t0003g0149 a0001c0006t0003g0153 others(9): Show a0001c0001t0003g0164 a0001c0006t0003g0149 a0001c0006t0003g0153 a0001c0011t0003g0097 a0001c0011t0003g0098 a0002c0002t0003g0129 a0002c0002t0004g0220 a0002c0002t0004g0221 a0002c0005t0003g0092 a0002c0005t0003g0096 a0002c0005t0003g0130 a0003c0003t0003g0048	12	262	0.0458	32	c.249 others(51): Show c.2495+1551_2495+1552insAGAGAGAGAGGGAGGGTGAGGGAGAG GGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669148	C C	CTCCCTCT others(25): Show CTCCCTCTCCCTCACCTTCCCTCTCCCTCACCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02451.hp2 HG01071.hp1 HG02451.hp2	a0001 a0014 a0001 a0014	a0001c0031 a0014c0039 a0001c0031 a0014c0039	a0001c0031t0002 a0014c0039t0001 a0001c0031t0002 a0014c0039t0001	a0001c0031t0002g0245 a0014c0039t0001g0128 a0001c0031t0002g0245 a0014c0039t0001g0128	2	262	0.0076	32	c.249 others(51): Show c.2495+1404_2495+1435dupAGGTGAGGGAGAGGGAAGGTGAGGGA GAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669252	C C	CCCTCACC others(25): Show CCCTCACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0007 a0007	a0007c0062 a0007c0062	a0007c0062t0002 a0007c0062t0002	a0007c0062t0002g0039 a0007c0062t0002g0039	1	262	0.0038	32	c.249 others(51): Show c.2495+1331_2495+1332insAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133734428	C C	CTCATTCA others(25): Show CTCATTCATTCATTCACTCATTCATTCACTCAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp2 HG01516.hp1 others(2): Show HG00733.hp2 HG01106.hp2 HG01516.hp1 HG02683.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0002c0010 a0001c0006 a0002c0004 a0002c0010	a0001c0006t0001 a0002c0004t0001 a0002c0010t0001 a0001c0006t0001 a0002c0004t0001 a0002c0010t0001	a0001c0006t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0139 others(2): Show a0001c0006t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0139 a0002c0010t0001g0138 a0002c0010t0001g0140	5	262	0.0191	32	c.-30 others(47): Show c.-30-226_-30-225insATGAGTGAATGAATGAGTGAATGAATGAAT GA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	1/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	402	0.0025	32	c.137 others(49): Show c.137-4689_137-4688insTATATATATATATATATATATATATATA TATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65970845	T T	TGAGCTGC others(25): Show TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00544.hp1 others(56): Show HG00099.hp2 HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02809.hp2 HG03098.hp2 NA18939.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18961.hp2 NA18967.hp2 NA18969.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0001 a0001c0006t0001 a0002c0001t0001	a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0001g0143 others(40): Show a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0001g0143 a0002c0001t0001g0003 a0002c0001t0001g0011 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0109 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0123 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0144 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151	59	384	0.1537	32	c.157 others(51): Show c.1572+3030_1572+3031insCTGAGGAGGGGGATGGTGGGATTCAG GAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65970895	G G	GGTGGGAT others(25): Show GGTGGGATTCATGAGCTGCTGAGGAAGGGGATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0069 a0001c0004t0007g0069	1	384	0.0026	32	c.157 others(51): Show c.1572+3084_1572+3085insTGAGCTGCTGAGGAAGGGGATTGTGG GATTCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65970966	A A	AGCTGAGG others(25): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0201 a0001c0002t0002g0201	1	384	0.0026	32	c.157 others(51): Show c.1572+3176_1572+3207dupCTGCTGAGGAGGGGGATGGTGGGATT CATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971068	G G	GGGGGATG others(25): Show GGGGGATGGTGGGATTCATGAGCTGCTGAGGAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02055.hp1 HG02630.hp2 others(9): Show HG01934.hp1 HG02055.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0007c0014 a0001c0005 a0007c0014	a0001c0005t0001 a0007c0014t0001 a0001c0005t0001 a0007c0014t0001	a0001c0005t0001g0007 a0001c0005t0001g0022 a0001c0005t0001g0030 others(3): Show a0001c0005t0001g0007 a0001c0005t0001g0022 a0001c0005t0001g0030 a0001c0005t0001g0158 a0001c0005t0001g0159 a0007c0014t0001g0157	12	384	0.0313	32	c.157 others(51): Show c.1572+3271_1572+3272insCTGAGGAAGGGGATGGTGGGATTCAT GAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971515	A A	AGCTGAGG others(25): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02015.hp1 HG03491.hp2 others(1): Show HG01123.hp1 HG02015.hp1 HG03491.hp2 NA18950.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0085 a0002c0001t0001g0104 a0002c0001t0001g0115 others(1): Show a0002c0001t0001g0085 a0002c0001t0001g0104 a0002c0001t0001g0115 a0002c0001t0001g0116	4	384	0.0104	32	c.157 others(51): Show c.1572+3696_1572+3727dupCTGAGGAGGGGGATGGTGGGATTCAT GAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971571	T T	TGAGCTGC others(25): Show TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20905.hp2 HG03239.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	2	384	0.0052	32	c.157 others(51): Show c.1572+3760_1572+3761insGGAGGGGGATGGTGGGATTCAGGAGC TGCTGA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(25): Show GTGCGCACGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp2 HG01258.hp1 others(11): Show HG00733.hp1 HG01256.hp2 HG01258.hp1 HG01928.hp2 HG01943.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02698.hp1 HG03490.hp1 NA18979.hp1 NA19011.hp2 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0004t0003 a0003c0006t0001	a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0002g0142 others(11): Show a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0175 a0001c0001t0004g0117 a0002c0002t0001g0197 a0002c0002t0002g0020 a0002c0002t0003g0163 a0002c0002t0003g0178 a0002c0002t0004g0233 a0002c0004t0003g0100 a0003c0006t0001g0077	14	322	0.0435	32	c.157 others(51): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148385002	G G	GGATGGCA others(25): Show GGATGGCAGACAAGACCCACTCTTAAAAACACA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	322	0.0031	32	c.157 others(49): Show c.157-5131_157-5100dupGATGGCAGACAAGACCCACTCTTAAAAA CACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18954.hp2 NA18943.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0198 a0002c0002t0001g0037 a0001c0001t0001g0198 a0002c0002t0001g0037	2	322	0.0062	32	c.157 others(49): Show c.157-2473_157-2442dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTCT others(25): Show CTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp1 HG02970.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0281 a0002c0002t0004g0282 a0002c0002t0004g0281 a0002c0002t0004g0282	2	322	0.0062	32	c.386 others(49): Show c.386+8676_386+8677insCTTTTTTTTTTTTCTTTTTTTTTTTTTT TTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0245 a0004c0008t0001g0245	1	322	0.0031	32	c.386 others(49): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789105	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02280.hp1 HG02280.hp2 others(6): Show HG02132.hp1 HG02280.hp1 HG02280.hp2 HG02965.hp1 HG03195.hp1 HG06807.hp1 NA18951.hp1 NA19000.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0013 a0001c0001t0001g0111 a0001c0001t0001g0179 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0111 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0002g0013 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0006g0095	9	307	0.0293	32	c.300 others(47): Show c.300+531_300+532insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	307	0.0033	32	c.300 others(47): Show c.300+558_300+589dupAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(25): Show CACACATATATATGTGTATATATACGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02622.hp1 others(6): Show HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp1 HG03540.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0022 a0002c0002t0001g0005 a0002c0002t0001g0013	9	330	0.0273	32	c.-32 others(43): Show c.-3230_-3229insACACATATATATGTGTATATATACGTATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SATL1_chrX_85087284_85248779	85088169	C C	CATATATG others(25): Show CATATATGTATAAATACATACATATTTATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01258.hp1 others(22): Show HG01074.hp1 HG01106.hp1 HG01258.hp1 HG01358.hp1 HG01928.hp1 HG01981.hp2 HG02015.hp1 HG02074.hp1 HG02135.hp1 HG03710.hp1 HG03831.hp1 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18971.hp1 NA18982.hp1 NA19001.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19086.hp1 NA19091.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0187 a0002c0002t0001g0081 a0002c0002t0001g0109 others(22): Show a0001c0001t0001g0187 a0002c0002t0001g0081 a0002c0002t0001g0109 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0138 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0003g0009 a0002c0002t0003g0012	25	232	0.1078	32	c.41 others(43): Show c.4190_*4221dupATGTATAAATATGTATGTATTTATACATATAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4114		chrX	TogoVar
SBF2_chr11_9773668_10299219	9835631	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	224	0.0045	32	c.345 others(51): Show c.3456-3212_3456-3211insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	26/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02148.hp1 HG03139.hp1 others(5): Show HG00423.hp1 HG02148.hp1 HG03139.hp1 HG03225.hp2 NA18522.hp1 NA18948.hp2 NA18951.hp2 NA18966.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0003c0004t0003	a0001c0001t0001g0035 a0001c0001t0002g0023 a0001c0001t0002g0185 others(5): Show a0001c0001t0001g0035 a0001c0001t0002g0023 a0001c0001t0002g0185 a0001c0001t0003g0021 a0001c0001t0003g0174 a0001c0001t0017g0181 a0003c0004t0003g0009 a0003c0004t0003g0011	8	224	0.0357	32	c.976 others(47): Show c.976-580_976-579insATATATATATATATATATATATATATATAT AT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0024 a0001c0008t0024	a0001c0008t0024g0100 a0001c0008t0024g0100	1	260	0.0039	32	c.403 others(49): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1141023	T T	TGGAGAAG others(25): Show TGGAGAAGACGCACCCCGGAGAAGACGCACCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG03486.hp1 HG02109.hp1 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0015 a0001c0006 a0001c0015	a0001c0006t0001 a0001c0015t0001 a0001c0006t0001 a0001c0015t0001	a0001c0006t0001g0089 a0001c0015t0001g0017 a0001c0015t0001g0116 a0001c0006t0001g0089 a0001c0015t0001g0017 a0001c0015t0001g0116	3	203	0.0148	32	c.279 others(49): Show c.279+6254_279+6285dupGGGGTGCGTCTTCTCCGGGGTGCGTCTT CTCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1174017	G G	GGCGGGGG others(25): Show GGCGGGGGTCCCGCCGCGCTCGCCCCCGCCCCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	203	0.0049	32	c.-12 others(49): Show c.-127+123_-127+154dupTGGGGCGGGGGCGAGCGCGGCGGGACCC CCGC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02074.hp2 NA18612.hp1 HG02027.hp1 HG02074.hp2 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	3	450	0.0067	32	c.31 others(43): Show c.3153_*3154insTATATATATATATATATATATATATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520369	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	450	0.0022	32	c.31 others(43): Show c.3140_*3141insGTATATATATATATATATATATATATATATAT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2997		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520373	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0014 a0014	a0014c0039 a0014c0039	a0014c0039t0001 a0014c0039t0001	a0014c0039t0001g0096 a0014c0039t0001g0096	1	450	0.0022	32	c.31 others(43): Show c.3136_*3137insGTATATATATATATATATATATATATATATAT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2993		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520388	A A	ATATATAT others(25): Show ATATATATAACTATATACACACACTATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0031 a0002c0001t0001g0031	1	450	0.0022	32	c.31 others(43): Show c.3121_*3122insGTGTATATAGTGTGTGTATATAGTTATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2978		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(25): Show TACACACACACACATATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG03831.hp2 NA20129.hp1 others(1): Show HG01993.hp2 HG03831.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0021	a0001c0002 a0002c0001 a0003c0004 others(1): Show a0001c0002 a0002c0001 a0003c0004 a0021c0029	a0001c0002t0002 a0002c0001t0002 a0003c0004t0002 others(1): Show a0001c0002t0002 a0002c0001t0002 a0003c0004t0002 a0021c0029t0002	a0001c0002t0002g0121 a0002c0001t0002g0060 a0003c0004t0002g0006 others(1): Show a0001c0002t0002g0121 a0002c0001t0002g0060 a0003c0004t0002g0006 a0021c0029t0002g0009	4	382	0.0105	32	c.15 others(43): Show c.1585_*1586insACACACACACACATATACACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18944.hp1 HG02071.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0168 a0001c0001t0003g0145 a0001c0001t0003g0168	2	306	0.0065	32	c.98+ others(49): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTTTTTTTTTTT TTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0167 a0001c0001t0020g0167	1	306	0.0033	32	c.98+ others(49): Show c.98+36510_98+36511insATATATATATTTTTTTTTTTTTTTTTTT TTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	306	0.0033	32	c.98+ others(49): Show c.98+36510_98+36511insATATATATATATATATATATATTTTTTT TTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460808	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19011.hp2 NA19084.hp1 HG00609.hp2 NA19011.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0205 a0001c0001t0001g0221 a0001c0001t0001g0227	3	332	0.0090	32	c.852 others(49): Show c.852+1446_852+1447insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460812	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19070.hp2 HG02074.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0222 a0001c0001t0037g0213 a0001c0001t0001g0222 a0001c0001t0037g0213	2	332	0.0060	32	c.852 others(49): Show c.852+1450_852+1451insTTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	370	0.0027	32	c.-47 others(43): Show c.-4728_-4727insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02135.hp2 others(5): Show HG00544.hp2 HG02040.hp2 HG02135.hp2 HG02451.hp2 HG02630.hp1 HG02683.hp1 NA18952.hp1 NA18990.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0004t0001g0132 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0004t0001g0132 a0002c0002t0002g0251 a0002c0002t0002g0254 a0002c0002t0002g0269 a0002c0002t0002g0273 a0003c0003t0002g0191	8	312	0.0256	32	c.331 others(51): Show c.3311+5211_3311+5212insTATATATATATATATATATATATATA TATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726124	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0171 a0007c0009t0001g0171	1	312	0.0032	32	c.216 others(51): Show c.2165+2470_2165+2471insATATATATATATATATATATATATAT ATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76873274	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0285 a0005c0011t0002g0285	1	312	0.0032	32	c.6+1 others(47): Show c.6+10506_6+10537dupCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04199.hp1 HG00741.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0275 a0001c0001t0001g0276	2	304	0.0066	32	c.-99 others(49): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCART1_chr10_133448945_133474760	133472868	A A	AGTGTGGC others(25): Show AGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01891.hp2 HG02280.hp1 others(5): Show HG01069.hp2 HG01891.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG03041.hp2 NA20300.hp2	a0004 a0012 a0004 a0012	a0004c0005 a0004c0020 a0004c0043 others(1): Show a0004c0005 a0004c0020 a0004c0043 a0012c0028	a0004c0005t0005 a0004c0020t0005 a0004c0043t0005 others(1): Show a0004c0005t0005 a0004c0020t0005 a0004c0043t0005 a0012c0028t0002	a0004c0005t0005g0166 a0004c0005t0005g0168 a0004c0020t0005g0044 others(4): Show a0004c0005t0005g0166 a0004c0005t0005g0168 a0004c0020t0005g0044 a0004c0020t0005g0164 a0004c0020t0005g0165 a0004c0043t0005g0167 a0012c0028t0002g0037	8	434	0.0184	32	c.49 others(43): Show c.4900_*4901insGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		3109		chr10	TogoVar
SCD5_chr4_82624539_82803796	82653676	T T	TGATAGAC others(25): Show TGATAGACAGACAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG02056.hp1 others(9): Show HG00558.hp1 HG00673.hp2 HG02056.hp1 HG02132.hp1 HG03098.hp1 NA18906.hp1 NA18942.hp1 NA18950.hp2 NA18960.hp2 NA18968.hp1 NA18992.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0024	a0001c0001t0001g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 others(9): Show a0001c0001t0001g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0069 a0001c0001t0002g0143 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0011g0010 a0001c0001t0024g0051	12	210	0.0571	32	c.570 others(51): Show c.570-16854_570-16853insTATCTATCTATCTATCTATCTGTCTG TCTATC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0016 a0001c0001t0027g0016	1	210	0.0048	32	c.569 others(51): Show c.569+15707_569+15708insTATATATATATATATATATATAGAGA GAGAGA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53044489	A A	ACTTCCTT others(25): Show ACTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02647.hp2 others(3): Show HG02280.hp2 HG02486.hp2 HG02647.hp2 HG02970.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0003t0003g0007	6	162	0.0370	32	c.156 others(55): Show c.1561+100843_1561+100844insGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02155.hp1 NA18970.hp1 others(7): Show HG00642.hp1 HG02155.hp1 NA18970.hp1 NA18971.hp2 NA18981.hp2 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19009.hp2 NA19060.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0003 a0001c0005t0001 a0001c0007t0003 a0004c0011t0003	a0001c0001t0001g0022 a0001c0001t0001g0118 a0001c0001t0002g0115 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0118 a0001c0001t0002g0115 a0001c0001t0007g0159 a0001c0003t0003g0140 a0001c0005t0001g0023 a0001c0005t0001g0039 a0001c0007t0003g0027 a0001c0007t0003g0028 a0004c0011t0003g0003	10	162	0.0617	32	c.156 others(51): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG02145.hp2 others(2): Show HG01081.hp2 HG01123.hp1 HG02145.hp2 NA18944.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0250 a0001c0001t0001g0317 a0001c0001t0003g0047 others(2): Show a0001c0001t0001g0250 a0001c0001t0001g0317 a0001c0001t0003g0047 a0001c0001t0003g0054 a0001c0001t0005g0073	5	402	0.0124	32	c.120 others(51): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar

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