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
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01517.hp1 HG02015.hp2 others(3): Show HG00738.hp1 HG01517.hp1 HG02015.hp2 HG02896.hp2 HG02897.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0002c0003t0002	a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0005g0152 others(3): Show a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0005g0152 a0001c0002t0005g0153 a0001c0002t0012g0158 a0002c0003t0002g0187	6	148	0.0405	40	c.394 others(57): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT TCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGCAGG others(33): Show AAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0154 a0001c0002t0005g0154	1	143	0.0070	40	c.394 others(57): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT GCCTGCCTGCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136702115	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0167 a0001c0002t0002g0167	1	213	0.0047	40	c.-84 others(59): Show c.-84+50079_-84+50080insGTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAM2_chr2_152111801_152180763	152159094	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01981.hp2 HG03195.hp2 others(1): Show HG01943.hp1 HG01981.hp2 HG03195.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 a0001c0002t0018	a0001c0001t0003g0223 a0001c0001t0004g0193 a0001c0001t0023g0192 others(1): Show a0001c0001t0003g0223 a0001c0001t0004g0193 a0001c0001t0023g0192 a0001c0002t0018g0151	4	198	0.0202	40	c.41- others(55): Show c.41-8866_41-8865insATATATATATATATATATATATATATATAT ATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	170	0.0059	40	c.203 others(57): Show c.203+1050_203+1051insTATATATATATATATATATATATATATA TATATATATACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02451.hp2 others(2): Show HG01256.hp1 HG01258.hp2 HG02451.hp2 HG02896.hp2 HG03540.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0005c0006t0001 a0001c0001t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0198 a0001c0001t0001g0230 a0002c0002t0001g0055 others(2): Show a0001c0001t0001g0198 a0001c0001t0001g0230 a0002c0002t0001g0055 a0005c0006t0001g0060 a0005c0006t0001g0157	5	35	0.1429	40	c.210 others(57): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp1 HG01167.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0228 a0002c0002t0001g0050 a0001c0001t0001g0228 a0002c0002t0001g0050	2	32	0.0625	40	c.210 others(57): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02922.hp1 HG01074.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0124 a0002c0002t0001g0040 a0001c0001t0001g0124 a0002c0002t0001g0040	2	32	0.0625	40	c.210 others(57): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	62	0.0161	40	c.782 others(55): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATATATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT3_chr17_42308324_42393442	42338481	G G	GGACCTGA others(33): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	266	0.0038	40	c.550 others(55): Show c.550+249_550+250insAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	192	0.0052	40	c.762 others(59): Show c.762+35592_762+35593insAAAAAAAAAATATATATATATATATA TATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	192	0.0052	40	c.762 others(59): Show c.762+35592_762+35593insAAAAAAAAAAAATATATATATATATA TATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0275 a0002c0002t0002g0275	1	192	0.0052	40	c.762 others(59): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAATATATATA TATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01358.hp1 others(19): Show HG00639.hp1 HG01243.hp2 HG01358.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp2 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03831.hp2 HG04184.hp2 NA18942.hp2 NA18962.hp2 NA18965.hp2 NA18972.hp1 NA18990.hp1 NA19002.hp1 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0005c0005t0002	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0137 others(19): Show a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0099 a0001c0001t0002g0124 a0002c0002t0001g0278 a0002c0002t0001g0298 a0002c0002t0001g0321 a0002c0002t0002g0226 a0002c0002t0002g0275 a0002c0002t0002g0289 a0002c0002t0002g0292 a0002c0002t0002g0314 a0003c0003t0001g0009 a0003c0003t0001g0182 a0003c0003t0001g0213 a0003c0003t0002g0181 a0005c0005t0002g0357	22	95	0.2316	40	c.762 others(59): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP4_chr7_88265892_88311894	88266819	C C	CACTTCCT others(33): Show CACTTCCTAGATGGGATGGCGGCCGGGAAGAGGCGCGCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03209.hp1 HG02886.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0028 a0001c0001t0027 a0001c0001t0028	a0001c0001t0027g0038 a0001c0001t0028g0039 a0001c0001t0027g0038 a0001c0001t0028g0039	2	316	0.0063	40	c.12 others(53): Show c.12578_*12579insAAGGCGCGCCTCTTCCCGGCCGCCATCCCATC TAGGAAGT	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding		4072		chr7	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATATATAT others(33): Show ATATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	246	0.0041	40	c.151 others(59): Show c.151+24503_151+24504insGTATATATATATATATATATATATAT GTATATATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATATATAT others(33): Show ATATATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	246	0.0041	40	c.151 others(59): Show c.151+24501_151+24502insGTATATATATATATATATATATATAT ATGTATATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK10_chr5_172037079_172193224	172056935	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03139.hp2 HG03486.hp2 HG00639.hp1 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0018 a0001c0002t0008 a0001c0002t0018	a0001c0002t0008g0016 a0001c0002t0008g0136 a0001c0002t0018g0005 a0001c0002t0008g0016 a0001c0002t0008g0136 a0001c0002t0018g0005	3	220	0.0136	40	c.233 others(57): Show c.2337+413_2337+414insCTTTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056935	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0018 a0001c0007t0001g0018	1	218	0.0046	40	c.233 others(57): Show c.2337+413_2337+414insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056942	A A	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG01884.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0009 a0001c0001t0001 a0001c0008t0009	a0001c0001t0001g0006 a0001c0008t0009g0231 a0001c0001t0001g0006 a0001c0008t0009g0231	2	228	0.0088	40	c.233 others(57): Show c.2337+406_2337+407insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056995	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0184 a0004c0020t0001g0184	1	122	0.0082	40	c.233 others(57): Show c.2337+353_2337+354insTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056995	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19091.hp2 HG02109.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0078 a0001c0005t0001g0162 a0001c0003t0001g0078 a0001c0005t0001g0162	2	123	0.0163	40	c.233 others(57): Show c.2337+353_2337+354insTTCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172089399	T T	TGGATGGA others(33): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0022 a0001c0010t0022	a0001c0010t0022g0081 a0001c0010t0022g0081	1	227	0.0044	40	c.168 others(57): Show c.1685+832_1685+833insTTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172089407	T T	TGGATGGA others(33): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0005 a0001c0002t0018g0005	1	226	0.0044	40	c.168 others(57): Show c.1685+824_1685+825insTTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172171730	T T	TGAATAGA others(33): Show TGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01516.hp1 HG01884.hp1 others(3): Show HG01123.hp1 HG01516.hp1 HG01884.hp1 HG01981.hp2 HG02559.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0027 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0027 a0001c0002t0002 a0001c0002t0039 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0006 a0001c0001t0027g0220 a0001c0002t0002g0186 others(3): Show a0001c0001t0001g0006 a0001c0001t0027g0220 a0001c0002t0002g0186 a0001c0002t0039g0028 a0001c0003t0001g0221 a0001c0005t0001g0123	6	170	0.0353	40	c.157 others(59): Show c.157-14943_157-14942insTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	1/18			chr5	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0169 a0002c0003t0001g0169	1	131	0.0076	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATTTTT	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(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0390 a0001c0004t0001g0390	1	131	0.0076	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT TTTTTTTTTTTT	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(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0172 a0002c0015t0001g0172	1	131	0.0076	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATATATTT TTTTTTTTTTTT	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(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	131	0.0076	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTTTTTTT	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(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0085 a0002c0003t0001g0085	1	131	0.0076	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5370996	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	124	0.0081	40	c.435 others(59): Show c.435-27210_435-27209insGTGTGTGTGTGTGTGTGTATATATAT ATATATATGTATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18984.hp1 NA19060.hp2 others(2): Show HG00609.hp1 NA18984.hp1 NA19060.hp2 NA19064.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0212 others(2): Show a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0005g0234	5	131	0.0382	40	c.947 others(55): Show c.947+808_947+809insTATATATATATATATATATATATATATATA TATATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STOML2_chr9_35094778_35108131	35105463	G G	GGCTCATG others(33): Show GGCTCATGCTTGTAATCCAAACACTTTGGGAGGCTGAGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0023	40	c.-23 others(51): Show c.-2370_-2369insTGCCTCAGCCTCCCAAAGTGTTTGGATTACAAGC ATGAGC	STOML2	ENSG00000165283.16	transcript	ENST00000356493.10	protein_coding		2333		chr9	TogoVar
STOML3_chr13_38960925_38995831	38987932	T T	TTATGTTA others(33): Show TTATGTTATATATAATATATTATATTTTATATAATATATTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	318	0.0031	40	c.52+ others(55): Show c.52+2698_52+2737dupTAATATATTATATAAAATATAATATATTAT ATATAACATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988475	T T	TATATGAT others(33): Show TATATGATATTTTATATCATATATTTTATATAAAATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	370	0.0027	40	c.52+ others(55): Show c.52+2194_52+2195insCATATATTTTATATAAAATATATGATATAA AATATCATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988475	T T	TATATTAT others(33): Show TATATTATATTTTATATCATATATTTTATATAAAATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	370	0.0027	40	c.52+ others(55): Show c.52+2194_52+2195insCATATATTTTATATAAAATATATGATATAA AATATAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988534	A A	ATATATTA others(33): Show ATATATTATATTTTATATCATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	392	0.0026	40	c.52+ others(55): Show c.52+2135_52+2136insATATATTATATATAAAATATATGATATAAA ATATAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988564	A A	ATATATTA others(33): Show ATATATTATATTTTATATCATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0308 a0001c0001t0005g0308	1	386	0.0026	40	c.52+ others(55): Show c.52+2105_52+2106insATATATTATATATAAAATATATGATATAAA ATATAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988601	A A	ATATTTTA others(33): Show ATATTTTATATCATATATTTTATATATAATATATTATATTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	247	0.0040	40	c.52+ others(55): Show c.52+2068_52+2069insAAATATAATATATTATATATAAAATATATG ATATAAAATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STON1_chr2_48525154_48603513	48557413	T T	TGATGGCG others(33): Show TGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0277 a0001c0019t0005g0277	1	374	0.0027	40	c.-47 others(59): Show c.-47-23165_-47-23164insTGGGAAGAGGCGCTCCTCACTTCCTA GATGGGATGGCGGC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(33): Show CACACACACACACACACACAGAGTGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	319	0.0031	40	c.19 others(51): Show c.1977_*1978insCTCTCTCTCTCTCTCTCACTCTGTGTGTGTGTGT GTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STRIP2_chr7_129429432_129493399	129476302	C C	CGGCGGCT others(33): Show CGGCGGCTGCCGGTTGGAGGGGCTCCTCACTTCTCAGACGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03017.hp1 HG02523.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0101 a0001c0001t0001g0103	2	341	0.0059	40	c.194 others(59): Show c.1945-4471_1945-4470insTTGGAGGGGCTCCTCACTTCTCAGAC GGGGCGGCTGCCGG	STRIP2	ENSG00000128578.10	transcript	ENST00000249344.7	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
STRN_chr2_36832698_36971536	36966898	A A	AACACACA others(33): Show AACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 NA20905.hp2 HG01433.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0260 a0001c0001t0003g0248 a0001c0001t0003g0260	2	101	0.0198	40	c.-43 others(49): Show c.-436_-435insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding		363		chr2	TogoVar
STX2_chr12_130784600_130844250	130843896	G G	GTATACTA others(33): Show GTATACTATGTATATATAGTATATATCGTATATATCATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01257.hp2 HG03704.hp2 others(1): Show HG00558.hp2 HG01257.hp2 HG03704.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0020 a0001c0001t0001g0139 a0001c0001t0001g0253 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0139 a0001c0001t0001g0253 a0001c0001t0024g0126	4	377	0.0106	40	c.-47 others(51): Show c.-4798_-4797insTATATGATATATACGATATATACTATATATACAT AGTATA	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		4647		chr12	TogoVar
STX2_chr12_130784600_130844250	130843904	C C	CGTATATA others(33): Show CGTATATATAGTATATATCGTATATATCATATATATACTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02280.hp1 HG02451.hp1 others(1): Show HG00673.hp1 HG02280.hp1 HG02451.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0002c0002t0035 a0002c0002t0036 others(1): Show a0001c0001t0017 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037	a0001c0001t0017g0244 a0002c0002t0035g0313 a0002c0002t0036g0107 others(1): Show a0001c0001t0017g0244 a0002c0002t0035g0313 a0002c0002t0036g0107 a0002c0002t0037g0312	4	184	0.0217	40	c.-48 others(51): Show c.-4806_-4805insATAGTATATATATGATATATACGATATATACTAT ATATAC	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		4655		chr12	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATAT others(33): Show ATATATATATATCTCTCTCTCTCTCTCCTCTCTCTCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	278	0.0036	40	c.-35 others(49): Show c.-356_-355insGAGAGGAGAGAGAGGAGAGAGAGAGAGAGATATATA TATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATCT others(33): Show ATATATCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 NA19066.hp2 HG00323.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0286 a0001c0002t0002g0293 a0001c0002t0002g0286 a0001c0002t0002g0293	2	279	0.0072	40	c.-35 others(49): Show c.-356_-355insGAGAGAGAGAGGAGAGAGAGGAGAGAGAGAGAGAGA TATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STX6_chr1_180967725_181027870	181023145	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	337	0.0030	40	c.-47 others(49): Show c.-473_-472insAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGA GAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		276		chr1	TogoVar
STX7_chr6_132440867_132518116	132509448	T T	TTAAACTA others(33): Show TTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0087 a0001c0001t0104g0087	1	368	0.0027	40	c.-59 others(57): Show c.-59+3558_-59+3559insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTA	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STXBP3_chr1_108741674_108814523	108771986	C C	CTATCTAT others(33): Show CTATCTATATATCATATATAAATACATATGATATCTATCTA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039	3	65	0.0462	40	c.439 others(55): Show c.439-678_439-677insATCTATATATCATATATAAATACATATGAT ATCTATCTAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar

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