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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ST8SIA5_chr18_46662821_46762053	46725984	T T	TATATATA others(18): Show TATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	344	0.0029	25	c.132 others(44): Show c.132-21321_132-21320insCCAGGATATATATATATATATATAT		ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6						chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725996	T T	TATATATA others(18): Show TATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18957.hp1 NA18957.hp2 HG00609.hp2 NA18957.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0103 a0001c0001t0001g0150 a0001c0001t0003g0142 a0001c0001t0001g0103 a0001c0001t0001g0150 a0001c0001t0003g0142	3	344	0.0087	25	c.132 others(44): Show c.132-21333_132-21332insCCAGGATATATATATATATATATAT		ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6						chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17324754	T T	TCATGGTA others(18): Show TCATGGTATGTACCATACCATGCATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01975.hp1 HG02055.hp2 others(9): Show HG01243.hp2 HG01975.hp1 HG02055.hp2 HG02109.hp1 HG02451.hp2 HG02559.hp1 HG02886.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 others(5): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0006t0001 a0002c0002t0006 a0002c0002t0017	a0001c0001t0011g0214 a0001c0001t0012g0047 a0001c0001t0012g0176 others(9): Show a0001c0001t0011g0214 a0001c0001t0012g0047 a0001c0001t0012g0176 a0001c0001t0012g0270 a0001c0001t0015g0035 a0001c0001t0015g0150 a0001c0001t0017g0263 a0001c0001t0018g0293 a0001c0001t0018g0294 a0001c0006t0001g0110 a0002c0002t0006g0002 a0002c0002t0017g0017	12	292	0.0411	25	c.636 others(42): Show c.636-1622_636-1598dupCATGCATGGTATGGTACATACCATG		ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	6/7						chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18951.hp1 NA18971.hp1 others(2): Show NA18906.hp2 NA18951.hp1 NA18971.hp1 NA18998.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0029 a0002c0002t0003 a0001c0001t0005 a0001c0001t0029 a0002c0002t0003	a0001c0001t0005g0022 a0001c0001t0005g0028 a0001c0001t0005g0041 others(2): Show a0001c0001t0005g0022 a0001c0001t0005g0028 a0001c0001t0005g0041 a0001c0001t0029g0030 a0002c0002t0003g0007	5	112	0.0446	25	c.377 others(44): Show c.377+11560_377+11561insTTTTTTTTTTTTTTTTTTTTTTTTT		ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7						chr10	TogoVar
STAB1_chr3_52490338_52529495	52518906	C C	CCCCGCCC others(18): Show CCCCGCCCCGCCCCGCCCCGCCCCGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00738.hp1 others(12): Show HG00323.hp1 HG00642.hp1 HG00738.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG02109.hp1 HG02818.hp1 HG03195.hp1	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0003 a0002c0014 a0003c0007 others(1): Show a0002c0003 a0002c0014 a0003c0007 a0012c0075	a0002c0003t0001 a0002c0014t0001 a0003c0007t0001 others(1): Show a0002c0003t0001 a0002c0014t0001 a0003c0007t0001 a0012c0075t0001	a0002c0003t0001g0002 a0002c0003t0001g0093 a0002c0003t0001g0094 others(7): Show a0002c0003t0001g0002 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0098 a0002c0014t0001g0002 a0002c0014t0001g0031 a0002c0014t0001g0072 a0003c0007t0001g0032 a0012c0075t0001g0002	15	176	0.0852	25	c.503 others(40): Show c.5034+50_5034+51insGCCCCGCCCCGTCCCGCCCCGCCCC		STAB1	ENSG00000010327.10	transcript	ENST00000321725.10	protein_coding	48/68					INFO_REALIGN_3_PRIME	chr3	TogoVar
STAB2_chr12_103582273_103771719	103664112	A A	AGTTTTGT others(18): Show AGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19068.hp2 HG02027.hp1 NA19068.hp2	a0002 a0002	a0002c0011 a0002c0037 a0002c0011 a0002c0037	a0002c0011t0001 a0002c0037t0001 a0002c0011t0001 a0002c0037t0001	a0002c0011t0001g0207 a0002c0037t0001g0159 a0002c0011t0001g0207 a0002c0037t0001g0159	2	97	0.0206	25	c.202 others(44): Show c.2022+1134_2022+1135insGTTTTGTTTTGTTTTGTTTTGTTTT		STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	18/68					INFO_REALIGN_3_PRIME	chr12	TogoVar
STAC2_chr17_39205541_39230945	39219242	T T	TCTCAATT others(18): Show TCTCAATTCATTGAGAATTGAGAATC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18975.hp2 NA19007.hp2 NA18959.hp2 NA18975.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0134 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0134	3	366	0.0082	25	c.91- others(40): Show c.91-1094_91-1070dupGATTCTCAATTCTCAATGAATTGAG		STAC2	ENSG00000141750.7	transcript	ENST00000333461.6	protein_coding	1/10						chr17	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	84	0.0119	25	c.688 others(42): Show c.688-1119_688-1118insAAAAAAAAATATATATATATATATA		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(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	84	0.0119	25	c.688 others(42): Show c.688-1119_688-1118insAAAAAAATATATATATATATATATA		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	84	0.0119	25	c.688 others(42): Show c.688-1119_688-1118insAAAAATATATATATATATATATATA		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136376016	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01081.hp2 others(10): Show HG00733.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01346.hp2 HG02559.hp1 HG02698.hp2 HG03139.hp2 HG03486.hp2 HG03942.hp1 HG04115.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0027 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0002g0085 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0016g0236 a0001c0002t0002g0138	13	20	0.6500	25	c.237 others(44): Show c.2370+1619_2370+1643dupATTTTATTTTATTTTATTTTATTTT		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	23/33						chr3	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18950.hp2 HG02523.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0220 a0001c0001t0003g0215 a0001c0001t0003g0220	2	26	0.0769	25	c.227 others(44): Show c.2277+2204_2277+2228dupAAAAAAAAAAAAAAAAAAAAAAAAA		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33						chr3	TogoVar
STAG1_chr3_136331236_136757378	136418360	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	25	0.0400	25	c.210 others(42): Show c.2109-413_2109-389dupTTTTTTTTTTTTTTTTTTTTTTTTT		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	20/33						chr3	TogoVar
STAG1_chr3_136331236_136757378	136498210	T T	TATATATA others(18): Show TATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0018 a0001c0001t0020g0018	1	158	0.0063	25	c.902 others(42): Show c.902+2012_902+2013insTGTATATATATATATATATATATAT		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33						chr3	TogoVar
STAG1_chr3_136331236_136757378	136498210	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18984.hp2 HG02135.hp1 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0167 a0001c0002t0002g0128 a0001c0002t0002g0167	2	159	0.0126	25	c.902 others(42): Show c.902+2012_902+2013insTATATATATATATATATATATATAT		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33						chr3	TogoVar
STAG1_chr3_136331236_136757378	136658151	C C	CCTGATCA others(18): Show CCTGATCATACACTGAGCTATGATCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp1 HG03471.hp1 others(1): Show HG01243.hp1 HG02818.hp1 HG03471.hp1 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0172 others(1): Show a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0173	4	238	0.0168	25	c.-83 others(44): Show c.-83-27171_-83-27170insCGATCATAGCTCAGTGTATGATCAG		STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33						chr3	TogoVar
STAM_chr10_17639151_17721824	17639402	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	235	0.0043	25	c.-49 others(36): Show c.-4938_-4937insTTTTTTTTTTTTTTTTTTTTTTTTT		STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding					4748		chr10	TogoVar
STARD13_chr13_33098137_33290755	33240683	T T	TATCCTTA others(18): Show TATCCTTAAGTATTTTATCCTTAAGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02293.hp2 HG01515.hp2 HG02293.hp2	a0001 a0002 a0001 a0002	a0001c0026 a0002c0003 a0001c0026 a0002c0003	a0001c0026t0001 a0002c0003t0023 a0001c0026t0001 a0002c0003t0023	a0001c0026t0001g0193 a0002c0003t0023g0224 a0001c0026t0001g0193 a0002c0003t0023g0224	2	295	0.0068	25	c.169 others(44): Show c.169+44762_169+44786dupCCTTAAGGATAAAATACTTAAGGAT		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp2 HG02148.hp1 others(3): Show HG01255.hp2 HG01358.hp2 HG02148.hp1 HG03654.hp2 HG06807.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0006 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0003t0002 a0002c0005t0002	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0006g0015 others(2): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0006g0015 a0002c0003t0002g0193 a0002c0005t0002g0054	6	143	0.0420	25	c.291 others(42): Show c.291-1542_291-1518dupATTTTATTTTATTTTATTTTATTTT		STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7						chr2	TogoVar
STARD7_chr2_96179859_96213827	96197069	A A	ACTAAACT others(18): Show ACTAAACTAACCTAACCTAAACTAAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0220 a0002c0002t0025g0220	1	345	0.0029	25	c.291 others(42): Show c.291-1521_291-1520insGTTAGTTTAGGTTAGGTTAGTTTAG		STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7						chr2	TogoVar
STARD9_chr15_42570606_42725998	42710206	T T	TATTTTTG others(18): Show TATTTTTGTTTTCTAGAGATGCCCGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0072 a0009c0010t0002g0072	1	208	0.0048	25	c.132 others(46): Show c.13285-6471_13285-6470insATTTTTGTTTTCTAGAGATGCCCG G		STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32						chr15	TogoVar
STAT2_chr12_56336597_56365107	56345522	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0166 a0007c0009t0001g0166	1	248	0.0040	25	c.210 others(42): Show c.2102+623_2102+624insATATATATATATATATATATATATA		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23						chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	31	0.0323	25	c.210 others(42): Show c.2102+621_2102+622insATATATATATATATATATATTTTTT		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23						chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	31	0.0323	25	c.210 others(42): Show c.2102+621_2102+622insATATATATATATATATATATATTTT		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23						chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02523.hp1 HG02109.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0223 a0001c0001t0001g0079 a0001c0001t0001g0223	2	32	0.0625	25	c.210 others(42): Show c.2102+621_2102+622insATATATATATATATATATATATATT		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23						chr12	TogoVar
STAT2_chr12_56336597_56365107	56354012	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	207	0.0048	25	c.782 others(40): Show c.782+453_782+454insATATATATATATATATATATATATA		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23						chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	62	0.0161	25	c.782 others(40): Show c.782+449_782+450insATATATATATATATATATTTTTTTT		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23						chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18971.hp2 HG01243.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0208 a0001c0001t0001g0139 a0001c0001t0001g0208	2	63	0.0317	25	c.782 others(40): Show c.782+449_782+450insATATATATATATATATATATATATT		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23						chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA20905.hp2 HG03492.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0131 a0001c0001t0001g0153	2	63	0.0317	25	c.782 others(40): Show c.782+449_782+450insATATATATATATATATATATATATA		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23						chr12	TogoVar
STAT2_chr12_56336597_56365107	56363211	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03041.hp2 HG03130.hp1 HG02109.hp1 HG03041.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0201 a0001c0001t0002g0006 a0002c0002t0001g0045 a0001c0001t0001g0201 a0001c0001t0002g0006 a0002c0002t0001g0045	3	54	0.0556	25	c.-31 others(36): Show c.-3162_-3161insATATATATATATATATATATATTTT		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding					3105		chr12	TogoVar
STAT2_chr12_56336597_56365107	56363211	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02451.hp2 NA19043.hp1 others(1): Show HG01167.hp2 HG02451.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0002c0002t0001	a0001c0001t0001g0228 a0001c0001t0002g0023 a0001c0001t0012g0025 others(1): Show a0001c0001t0001g0228 a0001c0001t0002g0023 a0001c0001t0012g0025 a0002c0002t0001g0055	4	55	0.0727	25	c.-31 others(36): Show c.-3162_-3161insATATATATATATATATATATATATT		STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding					3105		chr12	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01981.hp1 HG03490.hp2 others(3): Show HG00642.hp2 HG01981.hp1 HG03490.hp2 HG04204.hp1 NA19076.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0150 a0001c0001t0001g0194 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0150 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0202	6	146	0.0411	25	c.-11 others(44): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAAAAAAA		STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18						chr17	TogoVar
STAU1_chr20_49108339_49193334	49126576	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	363	0.0028	25	c.610 others(42): Show c.610-1990_610-1989insGTTTTTTTTTTTGTTTTTTTTTTTT		STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13						chr20	TogoVar
STAU1_chr20_49108339_49193334	49126577	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02280.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0184 a0001c0001t0001g0164 a0001c0001t0001g0184	2	245	0.0082	25	c.610 others(42): Show c.610-1991_610-1990insGTTTTTTTTTTTGTTTTTTTTTTTT		STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13						chr20	TogoVar
STAU1_chr20_49108339_49193334	49126586	A A	ACAAAAAA others(18): Show ACAAAAAAAAAAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	357	0.0028	25	c.610 others(42): Show c.610-2000_610-1999insGTTTTTTTTTTGTTTTTTTTTTTTG		STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13						chr20	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(18): Show CAAAAAAAAAAACAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp1 HG02970.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0072 a0001c0001t0003g0073	2	211	0.0095	25	c.610 others(42): Show c.610-2002_610-2001insTTGTTTTTTTTTTGTTTTTTTTTTT		STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13						chr20	TogoVar
STAU1_chr20_49108339_49193334	49134432	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	259	0.0039	25	c.609 others(42): Show c.609+1400_609+1401insTTTTTTTTTTTTTTTTTTTTTTTTT		STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13						chr20	TogoVar
STAU2_chr8_73415369_73751840	73479709	A A	ACAATATA others(18): Show ACAATATACGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02622.hp1 HG02735.hp2 others(6): Show HG00140.hp2 HG02622.hp1 HG02735.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03453.hp1 HG03704.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0036 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0003t0001g0015 a0002c0002t0001g0008 a0002c0002t0001g0060	9	218	0.0413	25	c.153 others(46): Show c.1531-57008_1531-57007insCACACACACACACACACGTATATT G		STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14						chr8	TogoVar
STAU2_chr8_73415369_73751840	73654637	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	77	0.0130	25	c.410 others(44): Show c.410+18469_410+18470insTTTTTTTTTTTTTTTTTTTTTTTTT		STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	6/14						chr8	TogoVar
STAU2_chr8_73415369_73751840	73687312	T T	TTTATATT others(18): Show TTTATATTTATATTTATAAATATAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02280.hp1 others(2): Show HG01261.hp2 HG01891.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0003c0004t0002 a0001c0001t0001 a0001c0003t0001 a0003c0004t0002	a0001c0001t0001g0003 a0001c0001t0001g0074 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0003t0001g0004 a0003c0004t0002g0168	5	232	0.0216	25	c.274 others(42): Show c.274+1341_274+1342insTTTATATTTATAAATATAAATATAA		STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	5/14						chr8	TogoVar
STAU2_chr8_73415369_73751840	73687337	T T	TTTATATT others(18): Show TTTATATTTATATTTATAAATATAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	60	0.0167	25	c.274 others(42): Show c.274+1316_274+1317insTTTATATTTATAAATATAAATATAA		STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	5/14						chr8	TogoVar
STEAP1B_chr7_22414444_22505188	22454866	T T	TATAAATA others(18): Show TATAAATATATATATGTATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	287	0.0035	25	c.763 others(44): Show c.763-35031_763-35030insTATATATATACATATATATATTTAT		STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4						chr7	TogoVar
STEEP1_chrX_119533149_119570409	119536967	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02486.hp1 NA18950.hp2 others(2): Show HG02040.hp1 HG02486.hp1 NA18950.hp2 NA18999.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0021 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0141	5	116	0.0431	25	c.27 others(36): Show c.2759_*2760insTTTTTTTTTTTTTTTTTTTTTTTTT		STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding					1181		chrX	TogoVar
STEEP1_chrX_119533149_119570409	119542055	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0047 a0001c0002t0006g0047	1	35	0.0286	25	c.513 others(40): Show c.513+425_513+449dupAAAAAAAAAAAAAAAAAAAAAAAAA		STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding	5/6						chrX	TogoVar
STK10_chr5_172037079_172193224	172106401	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0073 a0001c0006t0007g0073	1	37	0.0270	25	c.788 others(40): Show c.788+218_788+219insTTTTTTTTTTTTTTTTTTTTTTTTT		STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	6/18						chr5	TogoVar
STK10_chr5_172037079_172193224	172114473	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0038 a0001c0004t0038	a0001c0004t0038g0216 a0001c0004t0038g0216	1	111	0.0090	25	c.520 others(42): Show c.520+3007_520+3008insAAAAAAAAAAATATATATATATATA		STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	4/18						chr5	TogoVar
STK10_chr5_172037079_172193224	172171730	T T	TGAATAGA others(18): Show TGAATAGAATAGAATAGAATAGAATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01109.hp2 others(12): Show HG00642.hp2 HG01081.hp1 HG01109.hp2 HG02145.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03704.hp2 NA18906.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(9): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0011 a0001c0004t0003 a0001c0006t0003 a0001c0009t0001 a0001c0011t0001	a0001c0001t0001g0031 a0001c0001t0001g0119 a0001c0001t0010g0009 others(12): Show a0001c0001t0001g0031 a0001c0001t0001g0119 a0001c0001t0010g0009 a0001c0001t0015g0010 a0001c0001t0015g0048 a0001c0002t0001g0011 a0001c0002t0002g0224 a0001c0002t0003g0030 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0011g0024 a0001c0004t0003g0228 a0001c0006t0003g0062 a0001c0009t0001g0032 a0001c0011t0001g0017	15	179	0.0838	25	c.157 others(44): Show c.157-14967_157-14943dupTATTCTATTCTATTCTATTCTATTC		STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	1/18						chr5	TogoVar
STK11IP_chr2_219592857_219621451	219608362	T T	TGGTGGAA others(18): Show TGGTGGAACAGGGAGAAGAGGAGGCA	frameshift_variant frameshift_variant	HIGH	NA19006.hp2 NA19006.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0001 a0020c0026t0001	a0020c0026t0001g0118 a0020c0026t0001g0118	1	340	0.0029	25	c.153 others(34): Show c.1538_1562dupTGGAACAGGGAGAAGAGGAGGCAGG	p.Glu others(5): Show p.Glu522fs	STK11IP	ENSG00000144589.22	transcript	ENST00000456909.6	protein_coding	14/25	1656/3618	1563/3267	521/1088		INFO_REALIGN_3_PRIME	chr2	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02004.hp2 HG03669.hp2 others(3): Show HG01517.hp2 HG02004.hp2 HG03669.hp2 NA18941.hp2 NA18944.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0044 a0001c0001t0002 a0001c0001t0003 a0001c0001t0044	a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0051 others(3): Show a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0003g0060 a0001c0001t0044g0025	6	81	0.0741	25	c.274 others(44): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTT		STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10						chr13	TogoVar
STK24_chr13_98440185_98582107	98513617	A A	AGAGTTTC others(18): Show AGAGTTTCTCCATATGGTGGAGTCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	320	0.0031	25	c.273 others(42): Show c.273+5601_273+5625dupGAGACTCCACCATATGGAGAAACTC		STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10						chr13	TogoVar

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