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
ST6GAL1_chr3_186925526_187083553	186984740	T T	TTCCCTTC others(22): Show TTCCCTTCCTCCCTTCCTTCCTTCCTTCTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA20905.hp1 HG01515.hp1 HG01517.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0316 a0001c0001t0004g0303 a0001c0001t0004g0305 a0001c0001t0002g0316 a0001c0001t0004g0303 a0001c0001t0004g0305	3	352	0.0085	29	c.-18 others(50): Show c.-183+20819_-183+20820insTCCTCCCTTCCTTCCTTCCTTCTC TCCCT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GALNAC5_chr1_76862480_77072546	76936953	G G	GGCGTGTG others(22): Show GGCGTGTGGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	47	0.0213	29	c.261 others(48): Show c.261+68212_261+68213insCGTGTGGTGTGTGTGTGTGTGTGTGT GTG	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01358.hp2 HG02723.hp2 HG00280.hp2 HG01358.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0061 a0001c0001t0005g0071 a0001c0001t0005g0200 a0001c0001t0001g0061 a0001c0001t0005g0071 a0001c0001t0005g0200	3	90	0.0333	29	c.75 others(40): Show c.7568_*7569insTATATATATATATATATATATATATATTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01993.hp1 HG03017.hp2 others(1): Show HG00741.hp2 HG01993.hp1 HG03017.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0079 a0001c0001t0005g0083 others(1): Show a0001c0001t0005g0075 a0001c0001t0005g0079 a0001c0001t0005g0083 a0001c0001t0005g0103	4	91	0.0440	29	c.75 others(40): Show c.7568_*7569insTATATATATATATATATATATATATTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0192 a0002c0006t0010g0192	1	88	0.0114	29	c.75 others(40): Show c.7568_*7569insTATATATATATATATATATATTTTTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST8SIA5_chr18_46662821_46762053	46725982	T T	TATATATA others(22): Show TATATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0355 a0001c0001t0117g0355	1	331	0.0030	29	c.132 others(48): Show c.132-21319_132-21318insCCAGGATATATATATATATATATATA TAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725996	T T	TATATATA others(22): Show TATATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0101 a0001c0001t0058g0101	1	342	0.0029	29	c.132 others(48): Show c.132-21333_132-21332insCCAGGATATATATATATATATATATA TAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	25	0.0400	29	c.227 others(48): Show c.2277+2228_2277+2229insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136418360	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0171 a0002c0003t0002g0171	1	25	0.0400	29	c.210 others(46): Show c.2109-417_2109-389dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	20/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03492.hp1 HG02074.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0210 a0001c0002t0002g0143 a0001c0001t0003g0210 a0001c0002t0002g0143	2	33	0.0606	29	c.471 others(46): Show c.471+1268_471+1296dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136579958	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0155 a0001c0006t0005g0155	1	79	0.0127	29	c.298 others(48): Show c.298-11098_298-11097insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	4/33			chr3	TogoVar
STAP2_chr19_4319043_4343827	4321175	C C	CTGAGGAG others(22): Show CTGAGGAGTATCTGGGGGAAACAGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	386	0.0026	29	c.29 others(40): Show c.2957_*2958insTCCCAGCTGTTTCCCCCAGATACTCCTCA	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		2867		chr19	TogoVar
STAP2_chr19_4319043_4343827	4322684	G G	GGGAATAG others(22): Show GGGAATAGCTGCGCCCAAGGAGTATCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	386	0.0026	29	c.14 others(40): Show c.1448_*1449insTCCAGATACTCCTTGGGCGCAGCTATTCC	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		1358		chr19	TogoVar
STARD7_chr2_96179859_96213827	96200397	A A	ACACCACC others(22): Show ACACCACCATATATTGTACTATGTATCACT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	356	0.0028	29	c.291 others(46): Show c.291-4877_291-4849dupAGTGATACATAGTACAATATATGGTGGT G	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD9_chr15_42570606_42725998	42699392	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0030 a0030	a0030c0033 a0030c0033	a0030c0033t0002 a0030c0033t0002	a0030c0033t0002g0057 a0030c0033t0002g0057	1	149	0.0067	29	c.132 others(50): Show c.13284+3532_13284+3533insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG06807.hp1 NA19012.hp1 HG02630.hp1 HG06807.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0144	3	33	0.0909	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATTTTTTT T	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02056.hp1 HG03516.hp1 others(2): Show HG01928.hp2 HG02056.hp1 HG03516.hp1 HG03654.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0111 a0001c0001t0001g0148 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0111 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0002g0058 a0001c0001t0002g0137	5	35	0.1429	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATATTTTT T	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02895.hp2 NA18747.hp2 others(4): Show HG00673.hp1 HG02895.hp2 NA18747.hp2 NA18969.hp1 NA18981.hp2 NA19064.hp2 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0009 a0003c0003t0003 a0001c0001t0001 a0001c0001t0009 a0003c0003t0003	a0001c0001t0001g0018 a0001c0001t0001g0133 a0001c0001t0001g0143 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0226 a0001c0001t0009g0132 a0003c0003t0003g0233	7	37	0.1892	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATATATTT T	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 NA19068.hp2 HG02622.hp2 HG02647.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0206 a0001c0001t0001g0015 a0001c0001t0001g0206	3	33	0.0909	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT T	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	31	0.0323	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT A	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354014	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	185	0.0054	29	c.782 others(44): Show c.782+451_782+452insATATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0132	1	62	0.0161	29	c.782 others(44): Show c.782+449_782+450insATATATATATATATATATATATTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02300.hp2 NA18981.hp1 others(2): Show HG01928.hp2 HG02300.hp2 NA18981.hp1 NA19010.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0111 a0001c0001t0002g0125	5	66	0.0758	29	c.782 others(44): Show c.782+449_782+450insATATATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	62	0.0161	29	c.782 others(44): Show c.782+449_782+450insATATATATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	62	0.0161	29	c.782 others(44): Show c.782+449_782+450insATATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56363211	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	52	0.0192	29	c.-31 others(40): Show c.-3162_-3161insATATATATATATATATATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding		3105		chr12	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01993.hp1 HG02280.hp1 others(7): Show HG00438.hp1 HG01993.hp1 HG02280.hp1 HG03669.hp1 NA18982.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0145 a0001c0001t0001g0170 a0001c0001t0001g0171 others(7): Show a0001c0001t0001g0145 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0003g0147 a0001c0001t0004g0173	10	150	0.0667	29	c.-11 others(48): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAU2_chr8_73415369_73751840	73479709	A A	ACAATATA others(22): Show ACAATATACGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0089 a0002c0002t0001g0045 a0002c0002t0001g0089	2	211	0.0095	29	c.153 others(50): Show c.1531-57008_1531-57007insCACACACACACACACACACACGTA TATTG	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73720499	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	101	0.0099	29	c.-17 others(48): Show c.-17-11338_-17-11337insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	3/14			chr8	TogoVar
STEAP1B_chr7_22414444_22505188	22454866	T T	TAAATATA others(22): Show TAAATATAAATATATATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0340 a0002c0002t0002g0341	2	288	0.0069	29	c.763 others(48): Show c.763-35031_763-35030insTATATATATACATATATATATTTATA TTT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19002.hp1 NA18946.hp1 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0093 a0003c0003t0001g0182 a0001c0001t0001g0093 a0003c0003t0001g0182	2	193	0.0104	29	c.762 others(48): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAATATATAT ATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP4_chr7_88265892_88311894	88302999	T T	TAGCTTGT others(22): Show TAGCTTGTATTCTACTAATAATCTTCCAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG03209.hp1 others(2): Show HG02559.hp2 HG02886.hp1 HG03209.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0027 a0001c0001t0028 a0001c0001t0012 a0001c0001t0027 a0001c0001t0028	a0001c0001t0012g0037 a0001c0001t0012g0245 a0001c0001t0027g0038 others(1): Show a0001c0001t0012g0037 a0001c0001t0012g0245 a0001c0001t0027g0038 a0001c0001t0028g0039	5	316	0.0158	29	c.-3+ others(44): Show c.-3+3764_-3+3792dupCTTGGAAGATTATTAGTAGAATACAAGCT	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding	1/4			chr7	TogoVar
STEEP1_chrX_119533149_119570409	119536967	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01516.hp1 HG02155.hp2 others(2): Show HG01123.hp1 HG01516.hp1 HG02155.hp2 HG02165.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0131 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0168	5	116	0.0431	29	c.27 others(40): Show c.2759_*2760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding		1181		chrX	TogoVar
STK24_chr13_98440185_98582107	98474115	C C	CAAAGTCC others(22): Show CAAAGTCCCGGGATTTTTTGTCCCATCTAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	320	0.0031	29	c.597 others(44): Show c.597+677_597+705dupTTAGATGGGACAAAAAATCCCGGGACTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	76	0.0132	29	c.274 others(48): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0001 a0022c0024t0001	a0022c0024t0001g0097 a0022c0024t0001g0097	1	131	0.0076	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT T	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03540.hp1 NA18959.hp2 others(3): Show HG02970.hp2 HG03540.hp1 NA18959.hp2 NA18991.hp1 NA19011.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 others(3): Show a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0195 a0002c0003t0001g0120 a0002c0003t0001g0141	6	136	0.0441	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATATATATATATTT T	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18946.hp2 NA18994.hp2 others(1): Show HG00099.hp1 NA18946.hp2 NA18994.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0196 others(1): Show a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0196 a0002c0003t0001g0088	4	134	0.0299	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT T	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0134	1	131	0.0076	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATATATATTTTTTT T	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0104 a0002c0003t0001g0104	1	131	0.0076	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATTTTTTTTTTTTT T	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32A_chr5_147230026_147392855	147259864	T T	TTCTGTCT others(22): Show TTCTGTCTCTCTCTCCTGTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG01169.hp2 others(12): Show HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG02015.hp2 HG02895.hp2 HG02897.hp2 NA18945.hp2 NA18965.hp2 NA18984.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0050 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0002 a0001c0001t0002g0038 a0001c0001t0002g0180 a0001c0001t0003g0051 a0001c0001t0004g0179	15	314	0.0478	29	c.53- others(46): Show c.53-18256_53-18228dupGTCTCTCTCTCCTGTCTCTCTCTTTCTC T	STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
STK32B_chr4_5046480_5505989	5064375	T T	TATATAAT others(22): Show TATATAATATATAAATATATACTTATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0002 a0002c0004t0020 a0001c0003t0002 a0002c0004t0020	a0001c0003t0002g0035 a0002c0004t0020g0073 a0001c0003t0002g0035 a0002c0004t0020g0073	2	168	0.0119	29	c.52+ others(46): Show c.52+12544_52+12572dupATACATATAATATATAAATATATACTTA T	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5470086	C C	CAGAACAT others(22): Show CAGAACATGCTTCAATTTGGATTCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	168	0.0060	29	c.110 others(48): Show c.1106+2017_1106+2045dupAGAACATGCTTCAATTTGGATTCTTC CTT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5489621	A A	ATTTATTT others(22): Show ATTTATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0100 a0002c0002t0003g0100	1	165	0.0061	29	c.110 others(48): Show c.1107-9321_1107-9320insATTTTTTTTTTTTTTTTTTTTTTTTT TTT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5489621	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	165	0.0061	29	c.110 others(48): Show c.1107-9318_1107-9317insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK33_chr11_8386870_8599228	8553172	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATGGTG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0098 a0003c0005t0002g0098	1	326	0.0031	29	c.-46 others(50): Show c.-466+40882_-466+40910dupCACCATATATATATATATATATAT ATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8553174	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATGGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19078.hp1 HG01175.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0090 a0001c0001t0002g0006 a0001c0001t0002g0090	2	306	0.0065	29	c.-46 others(50): Show c.-466+40908_-466+40909insCACCATATATATATATATATATAT ATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8553201	G G	GTATATAT others(22): Show GTATATATATATATATATATATATGGTGTA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	284	0.0035	29	c.-46 others(50): Show c.-466+40881_-466+40882insTACACCATATATATATATATATAT ATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8572045	T T	TAAATTTT others(22): Show TAAATTTTAATTTTAAAAAATAAACAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02886.hp1 others(2): Show HG02486.hp2 HG02559.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0152 a0001c0001t0004g0153 others(1): Show a0001c0001t0004g0001 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154	5	144	0.0347	29	c.-46 others(50): Show c.-466+22037_-466+22038insTTTTTGTTTATTTTTTAAAATTAA AATTT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK38L_chr12_27239286_27330959	27241070	A A	ATATATAT others(22): Show ATATATATTACATATATGACTATGTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG02257.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	2	372	0.0054	29	c.-32 others(40): Show c.-3274_-3273insTATATATTACATATATGACTATGTATAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3215		chr12	TogoVar

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