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
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0287 a0001c0009t0002g0287	1	136	0.0074	32	c.-47 others(49): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0042 a0001c0018t0042	a0001c0018t0042g0027 a0001c0018t0042g0027	1	129	0.0078	32	c.149 others(51): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03491.hp2 NA18962.hp2 others(1): Show HG01261.hp2 HG03491.hp2 NA18962.hp2 NA18993.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0031	a0001c0002 a0002c0013 a0007c0018 others(1): Show a0001c0002 a0002c0013 a0007c0018 a0031c0056	a0001c0002t0001 a0002c0013t0005 a0007c0018t0005 others(1): Show a0001c0002t0001 a0002c0013t0005 a0007c0018t0005 a0031c0056t0001	a0001c0002t0001g0236 a0002c0013t0005g0137 a0007c0018t0005g0167 others(1): Show a0001c0002t0001g0236 a0002c0013t0005g0137 a0007c0018t0005g0167 a0031c0056t0001g0089	4	154	0.0260	32	c.660 others(51): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64765017	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0012 a0002c0006t0012	a0002c0006t0012g0026 a0002c0006t0012g0026	1	251	0.0040	32	c.634 others(51): Show c.6345+1708_6345+1709insACACACACACACACACACACACACAC ACACAC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTCTTTT others(25): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	26	0.0385	32	c.130 others(51): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(25): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	26	0.0385	32	c.130 others(51): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02738.hp2 HG02280.hp2 HG02738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0025 a0001c0005t0016 a0001c0005t0025	a0001c0005t0016g0147 a0001c0005t0025g0088 a0001c0005t0016g0147 a0001c0005t0025g0088	2	258	0.0078	32	c.118 others(51): Show c.118-10885_118-10884insTATATATATATATATATATATATATA TATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSB_chr3_161339798_161376517	161369314	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	198	0.0051	32	c.-12 others(51): Show c.-126+2120_-126+2121insAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPZ1_chr5_80315002_80326842	80322726	C C	CTTCTTCA others(25): Show CTTCTTCACTTTTCTATTTCTTTAGTATTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	432	0.0023	32	c.12 others(43): Show c.1218_*1219insTTCTTCACTTTTCTATTTCTTTAGTATTCTTT	SPZ1	ENSG00000164299.7	transcript	ENST00000296739.6	protein_coding		885		chr5	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01884.hp2 others(22): Show HG00609.hp1 HG00639.hp1 HG01884.hp2 HG02109.hp1 HG02129.hp1 HG02559.hp1 HG02615.hp2 HG03017.hp2 HG03130.hp1 HG03710.hp1 HG04204.hp1 NA18940.hp2 NA18942.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18967.hp2 NA18970.hp2 NA18977.hp2 NA18992.hp1 NA19002.hp2 NA19010.hp1 NA19079.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0054 others(22): Show a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0161 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0230 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0003t0001g0233 a0002c0002t0001g0047 a0002c0002t0001g0092 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0173 a0002c0002t0001g0189	25	82	0.3049	32	c.-92 others(41): Show c.-928_-927insTATATATATATATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SRBD1_chr2_45383680_45616267	45414757	C C	CATAGTGT others(25): Show CATAGTGTGTATATAGTATGTACACACACACAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	305	0.0033	32	c.233 others(51): Show c.2334-1465_2334-1464insATGTGTGTGTGTACATACTATATACA CACTAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414955	C C	CACACACA others(25): Show CACACACATATAGCGTGTATATAGTATGTATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	302	0.0033	32	c.233 others(51): Show c.2334-1663_2334-1662insATATACATACTATATACACGCTATAT GTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414955	C C	CACACACA others(25): Show CACACACATATAGTGTGTATATAGTATGTACAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	302	0.0033	32	c.233 others(51): Show c.2334-1663_2334-1662insATGTACATACTATATACACACTATAT GTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414955	C C	CACACACA others(25): Show CACACACATATAGTGTGTATATAGTATGTATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01256.hp2 HG01258.hp1 others(7): Show HG00597.hp1 HG01256.hp2 HG01258.hp1 HG02040.hp2 NA19002.hp2 NA19007.hp1 NA19043.hp2 NA19057.hp1 NA19082.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0001g0222 others(7): Show a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0001g0222 a0001c0001t0001g0246 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0326	10	311	0.0322	32	c.233 others(51): Show c.2334-1694_2334-1663dupATATACATACTATATACACACTATAT GTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45545283	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp1 HG02572.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0229 a0002c0002t0001g0118 a0001c0001t0001g0229 a0002c0002t0001g0118	2	120	0.0167	32	c.187 others(51): Show c.1874+1417_1874+1448dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0162 a0002c0004t0005g0162	1	16	0.0625	32	c.345 others(49): Show c.345+1313_345+1344dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	73	0.0137	32	c.-28 others(41): Show c.-287_-286insACACACACACACACACACACACACACACACAA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63913480	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0060 a0001c0002t0062g0060	1	100	0.0100	32	c.67+ others(49): Show c.67+68608_67+68609insTATATATATATATATATATGGATATATA TATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG01496.hp2 others(3): Show HG00558.hp1 HG01433.hp1 HG01496.hp2 HG02056.hp2 HG03017.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0006 a0001c0001t0021 a0001c0001t0075 others(3): Show a0001c0001t0006 a0001c0001t0021 a0001c0001t0075 a0001c0002t0024 a0001c0002t0059 a0002c0004t0090	a0001c0001t0006g0154 a0001c0001t0021g0151 a0001c0001t0075g0131 others(3): Show a0001c0001t0006g0154 a0001c0001t0021g0151 a0001c0001t0075g0131 a0001c0002t0024g0044 a0001c0002t0059g0125 a0002c0004t0090g0032	6	20	0.3000	32	c.490 others(49): Show c.490-3161_490-3130dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRP54_chr14_34977992_35034567	34988595	A A	ATATATAT others(25): Show ATATATATATATATATATAACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0024 a0001c0001t0001g0026	2	390	0.0051	32	c.-34 others(49): Show c.-34+5380_-34+5381insTATATATATATATATATAACATATATAT ATAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15			chr14	TogoVar
SRP54_chr14_34977992_35034567	35021693	A A	AATAGGAA others(25): Show AATAGGAATGGAAGTGCCACGTAAATGGATTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	394	0.0025	32	c.115 others(51): Show c.1157-1215_1157-1184dupTAGGAATGGAAGTGCCACGTAAATGG ATTTCA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062736	T T	TATATATA others(25): Show TATATATAAAATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	348	0.0029	32	c.562 others(49): Show c.562-1163_562-1162insTTTATATATATATATATATATATTTTAT ATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0168 a0001c0011t0004g0168	1	134	0.0075	32	c.958 others(47): Show c.958-685_958-684insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02145.hp1 others(1): Show HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0219	4	91	0.0440	32	c.478 others(49): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTTT TTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18942.hp1 NA18939.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0186 a0001c0001t0017g0187 a0001c0001t0016g0186 a0001c0001t0017g0187	2	16	0.1250	32	c.164 others(49): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG04199.hp2 NA18939.hp2 others(2): Show HG02165.hp2 HG04199.hp2 NA18939.hp2 NA18968.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0157 a0001c0001t0001g0252 a0001c0001t0002g0133	5	119	0.0420	32	c.-28 others(43): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00735.hp1 others(3): Show HG00323.hp2 HG00438.hp1 HG00735.hp1 HG01169.hp1 NA19012.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0035 a0001c0001t0001g0134 a0001c0001t0001g0230 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0134 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0007g0229	6	78	0.0769	32	c.726 others(47): Show c.726-402_726-371dupATATATATATATATATATATATATATATAT AT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	127	0.0079	32	c.37 others(43): Show c.3765_*3766insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2771		chr1	TogoVar
SRRM4_chr12_118976541_119168051	119135886	C C	CTGTGCCT others(25): Show CTGTGCCTTGGGCTAATAATAATCATATTATTA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19058.hp2 NA18943.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0152 a0002c0002t0002g0097 a0001c0001t0005g0152 a0002c0002t0002g0097	2	326	0.0061	32	c.771 others(49): Show c.771+5053_771+5054insGTGCCTTGGGCTAATAATAATCATATTA TTAT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM5_chr19_43607088_43619498	43609359	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA18945.hp1 NA19080.hp2 HG02922.hp2 NA18945.hp1 NA19080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	3	287	0.0105	32	c.-27 others(43): Show c.-2763_-2762insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding		2728		chr19	TogoVar
SRXN1_chr20_641615_658200	642100	T T	TGGGGGGG others(25): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	354	0.0028	32	c.66 others(43): Show c.6613_*6614insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4514		chr20	TogoVar
SRXN1_chr20_641615_658200	642100	T T	TGGGGGGG others(25): Show TGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	355	0.0056	32	c.66 others(43): Show c.6613_*6614insCAGGCAACCCCATCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4514		chr20	TogoVar
SRXN1_chr20_641615_658200	642271	G G	GCCCAGCG others(25): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02818.hp1 HG02970.hp1 others(1): Show HG01109.hp2 HG02818.hp1 HG02970.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0014 a0001c0001t0001 a0001c0001t0003 a0001c0002t0014	a0001c0001t0001g0036 a0001c0001t0003g0077 a0001c0002t0014g0025 a0001c0001t0001g0036 a0001c0001t0003g0077 a0001c0002t0014g0025	4	10	0.4000	32	c.64 others(43): Show c.6442_*6443insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4343		chr20	TogoVar
SRXN1_chr20_641615_658200	642362	G G	GCCCAGCG others(25): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	3	0.3333	32	c.63 others(43): Show c.6351_*6352insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4252		chr20	TogoVar
SRXN1_chr20_641615_658200	642391	G G	GCCCAGCG others(25): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	3	0.3333	32	c.63 others(43): Show c.6322_*6323insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4223		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01361.hp1 HG02145.hp1 others(1): Show HG01168.hp1 HG01361.hp1 HG02145.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0011 a0001c0001t0011 a0001c0002t0011	a0001c0001t0011g0027 a0001c0001t0011g0032 a0001c0001t0011g0161 others(1): Show a0001c0001t0011g0027 a0001c0001t0011g0032 a0001c0001t0011g0161 a0001c0002t0011g0165	4	74	0.0541	32	c.45 others(43): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0141 a0001c0001t0034g0141	1	76	0.0132	32	c.283 others(51): Show c.283-29132_283-29101dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0140 a0001c0001t0024g0140	1	126	0.0079	32	c.927 others(49): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0050 a0001c0001t0024g0050	1	55	0.0182	32	c.277 others(51): Show c.277-17404_277-17403insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC4D_chr7_76384337_76414697	76405319	A A	ATATATGT others(25): Show ATATATGTATGTATTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02071.hp2 HG02083.hp1 HG00280.hp2 HG02071.hp2 HG02083.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0001 a0001c0005t0002	a0001c0005t0001g0278 a0001c0005t0002g0040 a0001c0005t0001g0278 a0001c0005t0002g0040	3	311	0.0096	32	c.-66 others(47): Show c.-66-815_-66-814insGAAAGAAAGAAAGAAAAAAATACATACATA TA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18945.hp2 others(1): Show HG02895.hp1 HG02897.hp2 NA18945.hp2 NA18971.hp2	a0006 a0025 a0050 a0006 a0025 a0050	a0006c0041 a0025c0039 a0050c0053 a0006c0041 a0025c0039 a0050c0053	a0006c0041t0001 a0025c0039t0001 a0050c0053t0001 a0006c0041t0001 a0025c0039t0001 a0050c0053t0001	a0006c0041t0001g0290 a0025c0039t0001g0390 a0025c0039t0001g0391 others(1): Show a0006c0041t0001g0290 a0025c0039t0001g0390 a0025c0039t0001g0391 a0050c0053t0001g0146	4	193	0.0207	32	c.138 others(49): Show c.1387+451_1387+452insATATATATATATATATATATATATATTT TTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0119 a0001c0013t0001g0119	1	190	0.0053	32	c.138 others(49): Show c.1387+451_1387+452insATATATATATATATATATATATTTTTTT TTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19082.hp2 NA18966.hp1 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0013 a0004c0058 a0001c0013 a0004c0058	a0001c0013t0001 a0004c0058t0001 a0001c0013t0001 a0004c0058t0001	a0001c0013t0001g0135 a0004c0058t0001g0112 a0001c0013t0001g0135 a0004c0058t0001g0112	2	191	0.0105	32	c.138 others(49): Show c.1387+451_1387+452insATATATATATATATATATATTTTTTTTT TTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	85	0.0118	32	c.63+ others(49): Show c.63+16590_63+16591insATATATATATATATATAATTTTTTTTTT TTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSPN_chr12_26190573_26239777	26201046	T T	TATATATT others(25): Show TATATATTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0029 a0001c0001t0030g0029	1	211	0.0047	32	c.279 others(49): Show c.279+5095_279+5096insATATATTATATATATATATATATATATA TATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2			chr12	TogoVar
SSTR2_chr17_73160010_73181633	73163455	G G	GGGCAGAG others(25): Show GGGCAGAGTGGGCACTTCCTGGCTCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0107 a0001c0001t0023g0107	1	452	0.0022	32	c.-19 others(43): Show c.-1926_-1925insGGCAGAGTGGGCACTTCCTGGCTCTTCCTTCT	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding		1554		chr17	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02976.hp2 others(1): Show HG02055.hp1 HG02630.hp1 HG02976.hp2 NA18940.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0193 a0002c0002t0001g0189	4	148	0.0270	32	c.58 others(43): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133540924	T T	TATATAGA others(25): Show TATATAGACATATATATAGACATATATATAGAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19004.hp1 NA19057.hp1 others(1): Show HG02004.hp2 NA19004.hp1 NA19057.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0103 a0001c0002t0002g0034 a0001c0002t0002g0099 others(1): Show a0001c0001t0001g0103 a0001c0002t0002g0034 a0001c0002t0002g0099 a0001c0002t0002g0251	4	298	0.0134	32	c.-42 others(51): Show c.-429+4849_-429+4850insGTCTATATATATGTCTATATATATGT CTATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540946	T T	TATATATA others(25): Show TATATATAGACATATATAGACATATATATAGAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	328	0.0030	32	c.-42 others(51): Show c.-429+4827_-429+4828insGTCTATATATATGTCTATATATGTCT ATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	45	0.0222	32	c.-42 others(51): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTCTCTCTAT ATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar

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