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
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	45	0.0222	22	c.-42 others(41): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTCTAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp1 HG02451.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0025 a0001c0001t0014g0321 a0001c0001t0001g0025 a0001c0001t0014g0321	2	46	0.0435	22	c.-42 others(41): Show c.-429+4653_-429+4654insCTCTCTCTCTATATATATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541147	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02896.hp1 HG04204.hp2 others(1): Show HG01192.hp1 HG02896.hp1 HG04204.hp2 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0002t0002 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0004 a0003c0006t0021	a0001c0001t0001g0129 a0001c0002t0002g0079 a0001c0003t0004g0212 others(1): Show a0001c0001t0001g0129 a0001c0002t0002g0079 a0001c0003t0004g0212 a0003c0006t0021g0065	4	280	0.0143	22	c.-42 others(41): Show c.-429+4626_-429+4627insCCTCTCTCTCTCTCTCTCTCTC	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133562841	C C	CCTTCCTT others(15): Show CCTTCCTTCCTTTCTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp1 HG02897.hp2 others(6): Show HG02257.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03225.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0006 a0004c0007	a0001c0002t0018 a0001c0003t0004 a0001c0003t0008 others(5): Show a0001c0002t0018 a0001c0003t0004 a0001c0003t0008 a0001c0004t0003 a0001c0004t0006 a0002c0005t0003 a0003c0006t0021 a0004c0007t0076	a0001c0002t0018g0061 a0001c0003t0004g0021 a0001c0003t0008g0020 others(6): Show a0001c0002t0018g0061 a0001c0003t0004g0021 a0001c0003t0008g0020 a0001c0004t0003g0296 a0001c0004t0006g0066 a0002c0005t0003g0063 a0003c0006t0021g0064 a0003c0006t0021g0065 a0004c0007t0076g0311	9	164	0.0549	22	c.-58 others(41): Show c.-582+8851_-582+8852insAAAGAAAAAGAAAGGAAGGAAG	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	1/9			chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA21309.hp2 HG01515.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0048 a0001c0001t0038 a0001c0001t0048	a0001c0001t0038g0208 a0001c0001t0048g0072 a0001c0001t0038g0208 a0001c0001t0048g0072	2	93	0.0215	22	c.-10 others(45): Show c.-1003-10729_-1003-10708dupAAAAAAAAAAAAAAAAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST6GAL1_chr3_186925526_187083553	186926202	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0003 a0001c0002t0037g0003	1	12	0.0833	22	c.-49 others(33): Show c.-4957_-4956insATATATATATATATATATATAT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding		4323		chr3	TogoVar
ST6GAL2_chr2_106796600_106891167	106823442	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0008 a0006c0026t0008	a0006c0026t0008g0240 a0006c0026t0008g0240	1	46	0.0217	22	c.131 others(41): Show c.1318+6602_1318+6623dupGTGTGTGTGTGTGTGTGTGTGT	ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding	5/5			chr2	TogoVar
ST6GAL2_chr2_106796600_106891167	106884934	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0080 a0003c0006t0080	a0003c0006t0080g0312 a0003c0006t0080g0312	1	292	0.0034	22	c.-58 others(39): Show c.-58+1158_-58+1159insGTGTATATATATATATATATAT	ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding	1/5			chr2	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76183851	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG03453.hp1 others(4): Show HG02572.hp2 HG02717.hp1 HG03453.hp1 HG03540.hp2 HG04184.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0013	a0001c0001t0002g0011 a0001c0001t0004g0027 a0002c0002t0001g0002 others(4): Show a0001c0001t0002g0011 a0001c0001t0004g0027 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0053 a0002c0002t0001g0078 a0002c0002t0013g0042	7	31	0.2258	22	c.18+ others(41): Show c.18+108968_18+108989dupATATATATATATATATATATAT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76483933	T T	TAAATACG others(15): Show TAAATACGGCTAGCCAGCTTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp2 others(25): Show HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01192.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2 NA19060.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0003t0002 a0001c0003t0010 a0002c0002t0001 a0002c0002t0007 a0002c0002t0009 a0002c0002t0013	a0001c0001t0002g0034 a0001c0001t0002g0057 a0001c0001t0002g0058 others(25): Show a0001c0001t0002g0034 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0091 a0001c0001t0003g0063 a0001c0001t0004g0094 a0001c0001t0006g0093 a0001c0001t0010g0062 a0001c0001t0016g0018 a0001c0001t0018g0075 a0001c0001t0023g0068 a0001c0001t0025g0043 a0001c0003t0002g0004 a0001c0003t0010g0086 a0002c0002t0001g0002 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0085 a0002c0002t0001g0101 a0002c0002t0007g0060 a0002c0002t0009g0072 a0002c0002t0013g0042	28	102	0.2745	22	c.623 others(41): Show c.623+71517_623+71518insAATACGGCTAGCCAGCTTTCCA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	76936953	G G	GGCGTGTG others(15): Show GGCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01109.hp2 others(10): Show HG00639.hp2 HG01069.hp2 HG01109.hp2 HG01255.hp1 HG01978.hp1 HG01993.hp2 HG02735.hp2 HG02886.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18950.hp1 NA18957.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0004t0007	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0036 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0142 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0049 a0002c0002t0001g0186 a0002c0004t0007g0194 a0002c0004t0007g0195	13	59	0.2203	22	c.261 others(41): Show c.261+68212_261+68213insCGTGTGTGTGTGTGTGTGTGTG	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST7L_chr1_112518514_112624141	112568861	A A	AATATAAA others(15): Show AATATAAATAAATAAATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	161	0.0062	22	c.124 others(41): Show c.1245+8124_1245+8125insATATATATTTATTTATTTATAT	ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	11/14			chr1	TogoVar
ST7L_chr1_112518514_112624141	112568861	A A	AATATAAA others(15): Show AATATAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	161	0.0062	22	c.124 others(41): Show c.1245+8124_1245+8125insATATATATATATATATTTATAT	ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	11/14			chr1	TogoVar
ST7_chr7_116948501_117235176	117097880	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp2 HG01081.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0117 a0001c0001t0001g0067 a0001c0001t0001g0117	2	130	0.0154	22	c.152 others(39): Show c.152-1874_152-1853dupATATATATATATATATATATAT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	96	0.0104	22	c.152 others(39): Show c.152-1853_152-1852insATATATATATATATATTTTTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18982.hp1 HG01071.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0127 a0001c0001t0001g0082 a0001c0001t0001g0127	2	97	0.0206	22	c.152 others(39): Show c.152-1853_152-1852insATATATATATATATTTTTTTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117188773	T T	TATATATA others(15): Show TATATATATATATATATATCCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02647.hp2 others(7): Show HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02970.hp1 HG03486.hp1 HG03516.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0086 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0140	10	146	0.0685	22	c.107 others(39): Show c.1079-547_1079-546insTATATATATATATATATCCTCA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46710411	C C	CTTTTTCT others(15): Show CTTTTTCTTTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02083.hp1 HG02280.hp2 others(18): Show HG01192.hp2 HG02083.hp1 HG02280.hp2 HG03540.hp1 HG03688.hp1 HG03831.hp1 HG04199.hp1 NA18940.hp1 NA18954.hp1 NA18954.hp2 NA18961.hp2 NA18962.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18993.hp1 NA19065.hp1 NA19074.hp2 NA19079.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0035 a0001c0001t0038 a0001c0001t0045 a0001c0001t0088 a0001c0001t0090 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0126 a0001c0001t0128	a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0243 others(18): Show a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0243 a0001c0001t0006g0081 a0001c0001t0006g0250 a0001c0001t0008g0281 a0001c0001t0009g0287 a0001c0001t0012g0010 a0001c0001t0015g0202 a0001c0001t0015g0203 a0001c0001t0016g0100 a0001c0001t0035g0148 a0001c0001t0038g0265 a0001c0001t0045g0333 a0001c0001t0088g0206 a0001c0001t0090g0017 a0001c0001t0096g0229 a0001c0001t0097g0210 a0001c0001t0098g0131 a0001c0001t0126g0313 a0001c0001t0128g0306	21	318	0.0660	22	c.132 others(39): Show c.132-5748_132-5747insAAGAAAGAGAGAGAAAGAAAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	108	0.0093	22	c.377 others(41): Show c.377+11539_377+11560dupTTTTTTTTTTTTTTTTTTTTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374748	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0016 a0002c0002t0007g0016	1	289	0.0035	22	c.291 others(41): Show c.291-15149_291-15148insATATATATATATATATATATTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	194	0.0052	22	c.291 others(41): Show c.291-15165_291-15164insGTGTATATATATATATATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17440572	C C	CATATCCA others(15): Show CATATCCATACATATCCATACAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	294	0.0034	22	c.200 others(41): Show c.200+12986_200+12987insATGTATGGATATGTATGGATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	2/7			chr10	TogoVar
STAB2_chr12_103582273_103771719	103756996	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0206 a0001c0006t0001g0206	1	116	0.0086	22	c.698 others(41): Show c.6988-1160_6988-1139dupTATATATATATATATATATATA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	63/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAC_chr3_36375504_36553007	36492027	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	285	0.0035	22	c.688 others(39): Show c.688-1123_688-1122insTATATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18940.hp2 HG00099.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0069 a0001c0001t0001g0058 a0001c0001t0002g0069	2	85	0.0235	22	c.688 others(39): Show c.688-1119_688-1118insAAAAAAAATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02738.hp2 NA18945.hp1 HG02040.hp2 HG02738.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0307 a0001c0001t0002g0255 a0001c0001t0002g0270 a0001c0001t0001g0307 a0001c0001t0002g0255 a0001c0001t0002g0270	3	86	0.0349	22	c.688 others(39): Show c.688-1119_688-1118insAAAAAATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	84	0.0119	22	c.688 others(39): Show c.688-1119_688-1118insAAAATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02647.hp1 HG02895.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0002 a0004c0011t0002 a0001c0001t0002 a0004c0011t0002	a0001c0001t0002g0221 a0004c0011t0002g0243 a0001c0001t0002g0221 a0004c0011t0002g0243	2	85	0.0235	22	c.688 others(39): Show c.688-1105_688-1084dupATATATATATATATATATATAT	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136498210	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18971.hp1 NA18990.hp1 others(1): Show HG02698.hp1 NA18971.hp1 NA18990.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0003 a0001c0001t0003 a0001c0008t0003	a0001c0001t0003g0200 a0001c0001t0003g0209 a0001c0001t0003g0214 others(1): Show a0001c0001t0003g0200 a0001c0001t0003g0209 a0001c0001t0003g0214 a0001c0008t0003g0208	4	161	0.0248	22	c.902 others(39): Show c.902+1991_902+2012dupTATATATATATATATATATATA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	115	0.0087	22	c.902 others(39): Show c.902+1989_902+1990insGTGTATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01169.hp2 HG02300.hp1 others(1): Show HG01123.hp1 HG01169.hp2 HG02300.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0017g0041	4	118	0.0339	22	c.902 others(39): Show c.902+1989_902+1990insGTATATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	32	0.0313	22	c.471 others(39): Show c.471+1275_471+1296dupTTTTTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136541538	T T	TCACACAC others(15): Show TCACACACACACACACACTCACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01167.hp1 HG02683.hp1 HG00733.hp1 HG01167.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0151 a0001c0002t0002g0194 a0001c0002t0002g0195	3	92	0.0326	22	c.471 others(37): Show c.471+580_471+581insTGTGAGTGTGTGTGTGTGTGTG	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136579958	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0236 a0001c0001t0016g0236	1	79	0.0127	22	c.298 others(41): Show c.298-11119_298-11098dupAAAAAAAAAAAAAAAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	4/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136656617	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01516.hp1 HG02015.hp2 others(15): Show HG01256.hp2 HG01516.hp1 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG03139.hp2 HG03491.hp2 NA18986.hp1 NA18990.hp1 NA19057.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0012 a0002c0003t0002 a0002c0004t0002	a0001c0001t0002g0085 a0001c0001t0002g0123 a0001c0001t0002g0124 others(15): Show a0001c0001t0002g0085 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0209 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0004g0099 a0001c0002t0002g0128 a0001c0002t0002g0164 a0001c0002t0012g0158 a0002c0003t0002g0175 a0002c0003t0002g0181 a0002c0003t0002g0184 a0002c0003t0002g0188 a0002c0004t0002g0238	18	86	0.2093	22	c.-83 others(41): Show c.-83-25658_-83-25637dupCACACACACACACACACACACA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG2_chrX_123956706_124107656	123999414	T T	TCTCCCTC others(15): Show TCTCCCTCCTCCTACCCTCCTCC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0087 a0001c0001t0005g0087	1	274	0.0036	22	c.-16 others(43): Show c.-162-21947_-162-21926dupTCCTCCTACCCTCCTCCCTCCC	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAM2_chr2_152111801_152180763	152159094	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	195	0.0051	22	c.41- others(37): Show c.41-8866_41-8865insATATATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA20129.hp2 HG03688.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0060 a0001c0001t0008 a0001c0001t0060	a0001c0001t0008g0316 a0001c0001t0060g0312 a0001c0001t0008g0316 a0001c0001t0060g0312	2	244	0.0082	22	c.41- others(37): Show c.41-8882_41-8881insGTGTATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01261.hp1 others(12): Show HG01081.hp1 HG01109.hp1 HG01261.hp1 HG02809.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 NA18942.hp2 NA18963.hp2 NA18974.hp1 NA18986.hp2 NA18994.hp2 NA19060.hp1 NA19075.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0030 a0001c0001t0034	a0001c0001t0002g0062 a0001c0001t0005g0055 a0001c0001t0005g0065 others(11): Show a0001c0001t0002g0062 a0001c0001t0005g0055 a0001c0001t0005g0065 a0001c0001t0008g0027 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0311 a0001c0001t0008g0313 a0001c0001t0008g0315 a0001c0001t0009g0038 a0001c0001t0030g0057 a0001c0001t0034g0064	15	257	0.0584	22	c.41- others(37): Show c.41-8882_41-8881insGTATATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01243.hp1 others(5): Show HG00741.hp2 HG01099.hp2 HG01243.hp1 HG01256.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0047	a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0006g0024 others(5): Show a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0014g0026 a0001c0001t0014g0031 a0001c0001t0014g0032 a0001c0001t0047g0327	8	177	0.0452	22	c.203 others(39): Show c.203+1050_203+1051insTATATATATATATATACACACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	170	0.0059	22	c.203 others(39): Show c.203+1050_203+1051insTATATATATATATATATACACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp2 HG02040.hp2 others(17): Show HG00544.hp1 HG01069.hp2 HG02040.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02559.hp1 HG02698.hp2 HG03139.hp2 HG04199.hp2 NA18945.hp2 NA18968.hp1 NA18977.hp2 NA18983.hp1 NA18990.hp1 NA19012.hp1 NA19054.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0040 a0001c0002t0003	a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 others(17): Show a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0004g0272 a0001c0001t0004g0279 a0001c0001t0007g0285 a0001c0001t0013g0274 a0001c0001t0040g0287 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0078	20	189	0.1058	22	c.203 others(39): Show c.203+1050_203+1051insTATATATATATATATATATACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73843406	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0009 a0001c0001t0008 a0001c0002t0009	a0001c0001t0008g0313 a0001c0002t0009g0037 a0001c0001t0008g0313 a0001c0002t0009g0037	2	317	0.0063	22	c.204 others(39): Show c.204-1394_204-1393insATATATATATATATATATATAT	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73843406	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0312 a0001c0001t0008g0312	1	316	0.0032	22	c.204 others(39): Show c.204-1406_204-1405insGTATATATATATATATATATAT	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAM_chr10_17639151_17721824	17639402	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01433.hp2 HG01346.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0131 a0001c0001t0014g0140 a0001c0001t0014g0131 a0001c0001t0014g0140	2	236	0.0085	22	c.-49 others(33): Show c.-4938_-4937insTTTTTTTTTTTTTTTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding		4748		chr10	TogoVar
STAP2_chr19_4319043_4343827	4340027	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18954.hp2 NA18948.hp1 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0171 a0001c0003t0001g0030 a0001c0003t0001g0171	2	145	0.0138	22	c.-12 others(33): Show c.-1275_-1274insAAAAAAAAAAAAAAAAAAAAAA	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		1201		chr19	TogoVar
STARD10_chr11_72749729_72799047	72761917	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19055.hp1 HG01175.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0193 a0001c0001t0003g0194	2	217	0.0092	22	c.208 others(39): Show c.208-2558_208-2537dupAAAAAAAAAAAAAAAAAAAAAA	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	2/6			chr11	TogoVar
STARD3NL_chr7_38173245_38235669	38197181	T T	TTTCTTTC others(15): Show TTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	402	0.0025	22	c.-58 others(41): Show c.-58-10252_-58-10251insCTTTCTTCTTCTTTCTTTCTTT	STARD3NL	ENSG00000010270.14	transcript	ENST00000009041.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
STARD7_chr2_96179859_96213827	96197069	A A	ATAATATA others(15): Show ATAATATAAAATAACATAATAAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0248 a0002c0002t0002g0248	1	345	0.0029	22	c.291 others(39): Show c.291-1521_291-1520insGTTATTATGTTATTTTATATTA	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD8_chrX_68642666_68730836	68652867	A A	ACACACCC others(15): Show ACACACCCACACACACCACACAC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	197	0.0051	22	c.45+ others(37): Show c.45+4951_45+4952insACACCACACACCACACCCACAC	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar

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