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
SERGEF_chr11_17783048_18018047	17896837	T T	TAAGGGAA others(36): Show TAAGGGAAGGGTAACGGAAGGGTAAGGGAAGGGAAGGGTAAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0038	1	166	0.0060	43	c.101 others(64): Show c.1012-18594_1012-18593insCCCTTACCCTTCCCTTCCCTTACC CTTCCGTTACCCTTCCCTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERPINA5_chr14_94576426_94598118	94591554	A A	ATTCTATT others(36): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0074 a0002c0002t0010g0074	1	454	0.0022	43	c.103 others(60): Show c.1039-501_1039-459dupTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591559	A A	ATTCTATT others(36): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp1 HG02897.hp2 others(6): Show HG02280.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp1 HG03486.hp2 HG06807.hp1 NA19240.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0010 a0002c0002t0004 a0002c0002t0010	a0002c0002t0004g0010 a0002c0002t0004g0065 a0002c0002t0010g0094 a0002c0002t0004g0010 a0002c0002t0004g0065 a0002c0002t0010g0094	9	451	0.0200	43	c.103 others(60): Show c.1039-496_1039-454dupTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591564	A A	ATTCTATT others(36): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG03225.hp2 others(2): Show HG02615.hp2 HG02809.hp1 HG03225.hp2 NA18953.hp1 NA19086.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0011 a0002c0002 a0006c0011	a0002c0002t0004 a0006c0011t0010 a0002c0002t0004 a0006c0011t0010	a0002c0002t0004g0222 a0002c0002t0004g0234 a0002c0002t0004g0248 others(1): Show a0002c0002t0004g0222 a0002c0002t0004g0234 a0002c0002t0004g0248 a0006c0011t0010g0028	5	451	0.0111	43	c.103 others(60): Show c.1039-491_1039-449dupTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINF2_chr17_1737871_1760265	1739262	T T	TGGGAAGT others(36): Show TGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	444	0.0023	43	c.-36 others(54): Show c.-3651_-3650insGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGG TGTGAGGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3608		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739710	T T	TGGGAAGT others(36): Show TGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00642.hp1 others(40): Show HG00323.hp2 HG00639.hp1 HG00642.hp1 HG01070.hp2 HG01169.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG02027.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02698.hp1 HG02735.hp1 HG03041.hp1 HG03491.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18955.hp2 NA18964.hp2 NA18967.hp1 NA18979.hp2 NA18990.hp2 NA18998.hp2 NA19000.hp1 NA19010.hp1 NA19011.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19087.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0005 a0001c0011 others(2): Show a0001c0001 a0001c0005 a0001c0011 a0006c0008 a0008c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0005t0002 a0001c0011t0002 a0006c0008t0002 a0008c0010t0001	a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0013 others(21): Show a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0046 a0001c0001t0003g0120 a0001c0001t0003g0131 a0001c0001t0005g0118 a0001c0001t0014g0013 a0001c0005t0002g0010 a0001c0011t0002g0008 a0006c0008t0002g0141 a0008c0010t0001g0003	43	410	0.1049	43	c.-32 others(54): Show c.-3203_-3202insGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGG TGTGAGGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3160		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1741878	A A	AGCCTGAT others(36): Show AGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02486.hp2 others(7): Show HG01109.hp2 HG02055.hp2 HG02486.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0002g0077 a0001c0001t0002g0096 others(2): Show a0001c0001t0001g0017 a0001c0001t0002g0077 a0001c0001t0002g0096 a0001c0001t0003g0115 a0001c0001t0005g0039	10	328	0.0305	43	c.-10 others(54): Show c.-1035_-1034insGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGG CGGGAAGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		992		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1742079	C C	CAGGTGTG others(36): Show CAGGTGTGAGGGTGGGAAGGAGCCTGATGCGGGGAGTGAGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0002 a0011c0013t0001g0002	1	336	0.0030	43	c.-83 others(52): Show c.-834_-833insAGGTGTGAGGGTGGGAAGGAGCCTGATGCGGGGAGT GAGGTGT	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		791		chr17	TogoVar
SETD4_chr21_36029541_36065526	36031802	T T	TGTGTTGT others(36): Show TGTGTTGTGTGGGGACACTGGTGTGTTGTGTGGGGGACACTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00597.hp1 others(125): Show HG00099.hp1 HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0002t0001 a0001c0002t0011 a0001c0009t0001 a0003c0008t0001 a0004c0006t0003	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0017 others(68): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0003g0061 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0116 a0001c0001t0010g0033 a0001c0001t0015g0114 a0001c0001t0018g0098 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0159 a0001c0002t0011g0051 a0001c0009t0001g0084 a0003c0008t0001g0115 a0004c0006t0003g0097	128	379	0.3377	43	c.41 others(54): Show c.4190_*4191insGCCAGTGTCCCCCACACAACACACCAGTGTCCCC ACACAACAC	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		2738		chr21	TogoVar
SETD4_chr21_36029541_36065526	36031805	G G	GTTGTGTG others(36): Show GTTGTGTGGGGACACTGGTGTGTTGTGTGGGGGACACTGGCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	396	0.0025	43	c.41 others(54): Show c.4187_*4188insAACGCCAGTGTCCCCCACACAACACACCAGTGTC CCCACACAA	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		2735		chr21	TogoVar
SETD4_chr21_36029541_36065526	36032812	T T	TGGGGGGT others(36): Show TGGGGGGTCGCTGTCCTATTGTGGGGGCCGGCTGATGTGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	396	0.0025	43	c.31 others(54): Show c.3180_*3181insCACACCACATCAGCCGGCCCCCACAATAGGACAG CGACCCCCC	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		1728		chr21	TogoVar
SEZ6L_chr22_26164462_26388596	26348768	G G	GGGGAGGG others(36): Show GGGGAGGGAAGGAGAGGGAAGGGAGGGAAGGGAGGGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0001 a0002c0037t0001	a0002c0037t0001g0195 a0002c0037t0001g0195	1	238	0.0042	43	c.240 others(60): Show c.2407+866_2407+867insAGAGGGAAGGGAGGGAAGGGAGGGGGAG GGAAGGGAGGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	12	0.0833	43	c.495 others(58): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFMBT1_chr3_52898572_53051073	52934198	G G	GATGTAGA others(36): Show GATGTAGAGGGATGGGAACCTTCATAACAAGTGTTGGCAAGGAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	326	0.0031	43	c.453 others(58): Show c.453+614_453+615insATCCTTGCCAACACTTGTTATGAAGGTTCC CATCCCTCTACAT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	5/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	118	0.0085	43	c.124 others(60): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SGCZ_chr8_14079845_15243431	14551544	T T	TATATATA others(36): Show TATATATATAATATATATTATATATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	100	0.0100	43	c.234 others(60): Show c.234+3187_234+3188insTATATATAATATATATAATATATATAAT ATATATTATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15151462	G G	GTGAAAGT others(36): Show GTGAAAGTGGAAATATCAAGTTTATGTATTTTCTATATATTATC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	102	0.0098	43	c.39+ others(60): Show c.39+86122_39+86123insGATAATATATAGAAAATACATAAACTTG ATATTTCCACTTTCA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66660043	G G	GAAGGAAG others(36): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0258 a0001c0001t0020g0258	1	229	0.0044	43	c.460 others(58): Show c.460-468_460-467insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAAAGAAAGAAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66739298	T T	TGGGAGAA others(36): Show TGGGAGAAAATCATAGCTTCTGGTTTTGTTTCAGATTAATGGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02976.hp2 others(3): Show HG01884.hp1 HG02647.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03516.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0016 a0001c0001 a0002c0002 a0007c0016	a0001c0001t0017 a0001c0001t0018 a0001c0001t0052 others(3): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0052 a0002c0002t0003 a0002c0002t0018 a0007c0016t0017	a0001c0001t0017g0114 a0001c0001t0018g0001 a0001c0001t0052g0257 others(3): Show a0001c0001t0017g0114 a0001c0001t0018g0001 a0001c0001t0052g0257 a0002c0002t0003g0198 a0002c0002t0018g0123 a0007c0016t0017g0097	6	300	0.0200	43	c.203 others(58): Show c.2032-37_2032-36insGGGAGAAAATCATAGCTTCTGGTTTTGTTT CAGATTAATGGTC	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24			chr1	TogoVar
SH3BP2_chr4_2788085_2846096	2802616	A A	ATGTATGT others(36): Show ATGTATGTGGTGTGTGTATATATATATGTATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0008 a0001c0012t0008	a0001c0012t0008g0133 a0001c0012t0008g0133	1	375	0.0027	43	c.-5+ others(58): Show c.-5+9479_-5+9480insGTATGTGGTGTGTGTATATATATATGTATA TGTGTGTGTGTGT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	83	0.0120	43	c.4+1 others(58): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT TTTTTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAATAT others(36): Show AAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	83	0.0120	43	c.4+1 others(58): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT ATATATATATTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SHCBP1L_chr1_182894865_182958166	182908235	C C	CGATAGGT others(36): Show CGATAGGTAGTTTTTCAACAGACATCCCCTCCCTTCTTCCTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00621.hp1 others(25): Show HG00280.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01109.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp1 HG02273.hp1 HG04115.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18971.hp2 NA18973.hp1 NA18981.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA19007.hp2 NA19060.hp1 NA19074.hp1 NA19086.hp2 NA20300.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0011c0010t0001 a0001c0001t0001 a0011c0010t0001	a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0241 others(25): Show a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0286 a0001c0001t0001g0294 a0011c0010t0001g0276	28	299	0.0936	43	c.118 others(62): Show c.1183-2629_1183-2587dupAGGAGGAAGAAGGGAGGGGATGTCTG TTGAAAAACTACCTATC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182908235	C C	CGATAGGT others(36): Show CGATAGGTAGTTTTTCAATAGACATCCCCTCCCTTCTTCCTCCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	272	0.0037	43	c.118 others(62): Show c.1183-2587_1183-2586insAGGAGGAAGAAGGGAGGGGATGTCTA TTGAAAAACTACCTATC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHLD1_chr20_5745401_5869395	5848258	G G	GGCCTCCC others(36): Show GGCCTCCCCACATCAAGCCCGAATGATATTTCCTATTCGCCTAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	326	0.0031	43	c.179 others(62): Show c.179-14764_179-14763insCTCCCCACATCAAGCCCGAATGATAT TTCCTATTCGCCTACGC	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	97	0.0103	43	c.118 others(64): Show c.1182-14722_1182-14721insAAAAATATATATATATATATATAT ATATATATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(36): Show CGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18612.hp2 HG00558.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0069 a0001c0001t0001g0013 a0001c0001t0001g0069	2	129	0.0155	43	c.-15 others(62): Show c.-153-1244_-153-1243insCCCCCGACTGCATTCAGACATGGTCA GAGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411763	A A	AGGGGTGC others(36): Show AGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGCGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	233	0.0043	43	c.-15 others(62): Show c.-153-1737_-153-1736insCCCCGCCCGACTGCATCCAGACATGG TCAGAGCTGAGCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIN3B_chr19_16824398_16885349	16875625	C C	CTGGTCTG others(36): Show CTGGTCTGGTCTGGTCTGTTTGGTCTGGTCTGGTCTGGTCTGTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0178	1	370	0.0027	43	c.259 others(60): Show c.2593-412_2593-370dupTTTGGTCTGGTCTGGTCTGGTCTGTTTG GTCTGGTCTGGTCTG	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1_chr11_65633101_65655912	65642925	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	404	0.0025	43	c.984 others(58): Show c.984+289_984+290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SIPA1	ENSG00000213445.10	transcript	ENST00000534313.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIT1_chr9_35644295_35655931	35654437	T T	TGGGAGAT others(36): Show TGGGAGATTTCAAATTTTTAAAATTCTAATTTGTTGATTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	43	c.-35 others(54): Show c.-3585_-3584insGAAGGAATCAACAAATTAGAATTTTAAAAATTTG AAATCTCCC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		3507		chr9	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	194	0.0052	43	c.46+ others(60): Show c.46+16551_46+16552insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0211 a0002c0004t0001g0211	1	194	0.0052	43	c.46+ others(60): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03516.hp2 HG02630.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0099 a0002c0002t0001g0090 a0002c0002t0001g0099	2	195	0.0103	43	c.46+ others(60): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATATATATTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKI_chr1_2223319_2315213	2280850	C C	CGATCTTC others(36): Show CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0075 a0001c0001t0013g0075	1	250	0.0040	43	c.970 others(62): Show c.970-22115_970-22114insCGGACGCCCGAGAGGACAGGCGGCGG CGGAGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280890	C C	CGGAGATC others(36): Show CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0064 a0001c0001t0014g0064	1	304	0.0033	43	c.970 others(62): Show c.970-22086_970-22085insAGATCTTCAGAGAGAGGATGCCCGAG AGGACAGGCGGTGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280957	C C	CTGAGAAG others(36): Show CTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18961.hp2 NA18956.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0032 a0001c0001t0004g0016 a0001c0001t0001g0032 a0001c0001t0004g0016	2	315	0.0063	43	c.970 others(62): Show c.970-22021_970-22020insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAAGACACG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2280994	G G	GGAAGCCC others(36): Show GGAAGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0095 a0001c0001t0010g0095	1	298	0.0034	43	c.970 others(62): Show c.970-21982_970-21981insAGCCCGAGAGGACAGGCGGCGGCGGC GATCTTCAGAGAGAAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281031	G G	GAGAGAGG others(36): Show GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0084 a0001c0001t0010g0084	1	320	0.0031	43	c.970 others(62): Show c.970-21935_970-21934insTGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281083	C C	CGCCCGAG others(36): Show CGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	270	0.0037	43	c.970 others(62): Show c.970-21887_970-21886insGGACAGGCGGCGGCGGAGATCTTCAG AGAGAGGATGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281087	C C	CGAGAAGA others(36): Show CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	302	0.0033	43	c.970 others(62): Show c.970-21877_970-21876insTGGCGGAGATCTTCAGAGAGAGGACG CCTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281191	C C	CGGAGATC others(36): Show CGGAGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	298	0.0034	43	c.970 others(62): Show c.970-21776_970-21775insGAGAGAGGACACCTGAGAAGACAGGC GGTGGTGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281303	C C	CGAGAAGA others(36): Show CGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0063 a0001c0001t0013g0063	1	284	0.0035	43	c.970 others(62): Show c.970-21658_970-21657insTGGAGATCTTCAGAGAGAGGACGCCT GAGAAGACAGGCGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281308	A A	AGACAGGC others(36): Show AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	320	0.0031	43	c.970 others(62): Show c.970-21661_970-21660insCGGCGGCGATCTTCAGAGAGCGGACG CCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281359	C C	CGGTGGCG others(36): Show CGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0081 a0001c0001t0080g0081	1	306	0.0033	43	c.970 others(62): Show c.970-21589_970-21588insTGAGAAGACAGGTGGTGGCGGAGATC TTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281433	C C	CGAGAAGA others(36): Show CGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0307 a0001c0001t0040g0307	1	299	0.0033	43	c.970 others(62): Show c.970-21528_970-21527insTGGAGATCTTCAGAGAGAGGACGCCT GAGAAGACAGGCGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281531	C C	CGGTGGCG others(36): Show CGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0212 a0001c0001t0006g0212	1	307	0.0033	43	c.970 others(62): Show c.970-21442_970-21441insCGGAGATCTTCAGAGAGAAGACACGT GAGAAGACAGGTGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281580	C C	CGGAGATC others(36): Show CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0185 a0002c0004t0002g0185	1	317	0.0032	43	c.970 others(62): Show c.970-21356_970-21355insTGGAGATCTTCAGAGAGAGGACGCCC GAGAAGACAGGCGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281660	C C	CGGTGGCG others(36): Show CGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	313	0.0032	43	c.970 others(62): Show c.970-21295_970-21294insAGACACGTGAGAAGACAGGTGGTGGC GGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281683	A A	AGGACGCC others(36): Show AGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	305	0.0033	43	c.970 others(62): Show c.970-21283_970-21282insAGACATGCGGCGGCGGCGATCTTCAG AGAGCGGACGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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