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
SFRP4_chr7_37900932_37921817	37911917	A A	ATACTCAT others(19): Show ATACTCATATTTTGATTTTTCCTTCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(91): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01256.hp1 HG01515.hp1 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp1 NA19079.hp1 NA19081.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0001 a0001c0001t0003 a0004c0013t0001 a0001c0001t0001 a0001c0001t0003 a0004c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0003g0048 a0004c0013t0001g0078	94	472	0.1992	26	c.791 others(41): Show c.791+176_791+201dupATGAAGGAAAAATCAAAATATGAGTA	SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding	4/5			chr7	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02148.hp2 NA18941.hp1 others(2): Show HG01517.hp2 HG02148.hp2 NA18941.hp1 NA18969.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0143 a0001c0001t0001g0228 others(2): Show a0001c0001t0001g0113 a0001c0001t0001g0143 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0265	5	318	0.0157	26	c.240 others(45): Show c.2409-2666_2409-2641dupTATATATATATATATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFT2D1_chr6_166314728_166347545	166318129	G G	GCCCGGAT others(19): Show GCCCGGATGTGATGCTTTTCAAGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02145.hp2 HG02717.hp1 others(15): Show HG02015.hp2 HG02145.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18955.hp2 NA18971.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005	a0001c0002t0003g0021 a0001c0002t0003g0048 a0001c0002t0003g0172 others(10): Show a0001c0002t0003g0021 a0001c0002t0003g0048 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0178 a0001c0002t0004g0045 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0005g0064 a0001c0002t0005g0160	18	388	0.0464	26	c.20 others(37): Show c.2087_*2088insTGAGCTTGAAAAGCATCACATCCGGG	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		1598		chr6	TogoVar
SFT2D2_chr1_168221004_168258021	168229689	T T	TAGTTCTT others(19): Show TAGTTCTTTTCGCACCTTGGCAAGGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG03130.hp1 others(2): Show HG02572.hp1 HG02717.hp2 HG03130.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0065 a0001c0001t0074 a0001c0001t0018 a0001c0001t0065 a0001c0001t0074	a0001c0001t0018g0018 a0001c0001t0018g0075 a0001c0001t0065g0103 others(1): Show a0001c0001t0018g0018 a0001c0001t0018g0075 a0001c0001t0065g0103 a0001c0001t0074g0018	5	352	0.0142	26	c.64- others(41): Show c.64-1816_64-1791dupTCGCACCTTGGCAAGGTAAGTTCTTT	SFT2D2	ENSG00000213064.10	transcript	ENST00000271375.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	386	0.0026	26	c.-13 others(37): Show c.-1391_-1390insTATATATATATATATATATATATATT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFTPC_chr8_22156798_22169479	22165882	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18747.hp2 HG00438.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0005 a0002c0002t0002g0001 a0001c0001t0001g0005 a0002c0002t0002g0001	2	466	0.0043	26	c.16 others(37): Show c.1635_*1636insGTGTGTGTGTGTGTGTGTGTGTGTGT	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		1404		chr8	TogoVar
SFXN5_chr2_72937036_73076712	73047249	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02258.hp2 HG03704.hp2 others(1): Show HG01169.hp2 HG02258.hp2 HG03704.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0002g0141	4	250	0.0160	26	c.172 others(43): Show c.172-6319_172-6318insGTGTGTATATATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047251	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG01192.hp2 others(7): Show HG00597.hp2 HG00741.hp2 HG01192.hp2 HG01361.hp1 HG01433.hp2 HG02165.hp2 HG03017.hp2 HG03942.hp1 HG04204.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0144 others(7): Show a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0002g0138 a0001c0001t0008g0137 a0001c0002t0001g0168	10	250	0.0400	26	c.172 others(43): Show c.172-6321_172-6320insGTGTGTATATATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047283	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	250	0.0040	26	c.172 others(43): Show c.172-6353_172-6352insGTGTGTATATATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCACAC others(19): Show GCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	250	0.0040	26	c.171 others(43): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(19): Show GCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp2 HG01975.hp1 others(5): Show HG00741.hp1 HG01256.hp2 HG01975.hp1 HG01978.hp1 HG02074.hp1 NA18952.hp1 NA19070.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0013 a0001c0002t0001 a0001c0002t0013	a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 others(5): Show a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0237 a0001c0002t0013g0074 a0001c0002t0013g0075	8	250	0.0320	26	c.171 others(43): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCGC others(19): Show GCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	250	0.0040	26	c.171 others(43): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGCGCGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp1 HG02145.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0053 a0001c0001t0001 a0001c0002t0053	a0001c0001t0001g0146 a0001c0002t0053g0085 a0001c0001t0001g0146 a0001c0002t0053g0085	2	150	0.0133	26	c.192 others(43): Show c.192+5587_192+5588insATATATATATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156406018	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0144 a0001c0001t0016g0144	1	150	0.0067	26	c.192 others(45): Show c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAAAAAA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156406790	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA19011.hp1 HG01258.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0061 a0001c0002t0024 a0001c0002t0061	a0001c0002t0024g0100 a0001c0002t0061g0103 a0001c0002t0024g0100 a0001c0002t0061g0103	2	150	0.0133	26	c.192 others(45): Show c.192+62118_192+62143dupTATATATATATATATATATATATATA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23275120	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18995.hp2 HG01099.hp1 NA18995.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0007 a0001c0004t0006 a0001c0004t0007	a0001c0004t0006g0190 a0001c0004t0007g0116 a0001c0004t0006g0190 a0001c0004t0007g0116	2	354	0.0057	26	c.386 others(43): Show c.386-4216_386-4215insTATATATATATATATATATATATATA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23275142	T T	TATATATA others(19): Show TATATATATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0070 a0001c0014t0003g0070	1	354	0.0028	26	c.386 others(43): Show c.386-4216_386-4215insTATATATACATACATACATACATACA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23314382	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp1 HG03098.hp1 others(5): Show HG00738.hp1 HG02109.hp1 HG03098.hp1 HG03490.hp2 HG03492.hp2 NA19063.hp2 NA19064.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0014	a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 others(3): Show a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 a0001c0004t0003 a0001c0005t0002 a0001c0014t0003	a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0002t0003g0129 others(5): Show a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0002t0003g0129 a0001c0003t0003g0330 a0001c0004t0003g0313 a0001c0005t0002g0297 a0001c0005t0002g0298 a0001c0014t0003g0070	8	354	0.0226	26	c.579 others(43): Show c.579-6254_579-6253insTTATATATATATATATATATATATAT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCZ_chr8_14079845_15243431	14240327	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0013 a0001c0001t0031g0013	1	102	0.0098	26	c.337 others(43): Show c.337-2674_337-2649dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	3/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14676346	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0068 a0001c0001t0067g0068	1	102	0.0098	26	c.40- others(45): Show c.40-121421_40-121420insCACACACACACACACACACACACACA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14717996	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0006 a0001c0001t0028g0006	1	102	0.0098	26	c.40- others(45): Show c.40-163071_40-163070insATATATATATATATATATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15097888	G G	GTATATAT others(19): Show GTATATATATATACACGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0001 a0002c0002t0009g0001	1	102	0.0098	26	c.39+ others(45): Show c.39+139696_39+139697insTATATATACACGTGTATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15232682	T T	TATATATA others(19): Show TATATATATATGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0015 a0001c0001t0021g0015	1	102	0.0098	26	c.39+ others(41): Show c.39+4902_39+4903insGTATATATATACACACATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGF29_chr16_28548920_28596790	28564553	A A	ATATATAT others(19): Show ATATATATATACGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01168.hp2 others(1): Show HG01081.hp1 HG01099.hp2 HG01168.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 others(1): Show a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0103	4	346	0.0116	26	c.-16 others(45): Show c.-16+10466_-16+10467insCGTATATATATATACGTATATATATA	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGF29_chr16_28548920_28596790	28564555	A A	ATATATAT others(19): Show ATATATATATACGTATATATATACACG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp1 HG03540.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0162 a0001c0001t0001g0188 a0001c0001t0001g0189	3	346	0.0087	26	c.-16 others(45): Show c.-16+10470_-16+10495dupGTATATATATACACGTATATATATAC	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGF29_chr16_28548920_28596790	28594770	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG06807.hp1 HG00099.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	2	346	0.0058	26	c.30 others(37): Show c.3064_*3065insTTTTTTTTTTTTTTTTTTTTTTTTTT	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding		2981		chr16	TogoVar
SGIP1_chr1_66529153_66756139	66589214	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	302	0.0033	26	c.11- others(43): Show c.11-36632_11-36631insGTGTGTGTGTGTGTGTGTGTGTGTGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66589216	A A	ATATGTGT others(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	302	0.0033	26	c.11- others(43): Show c.11-36630_11-36629insATGTGTGTGTGTGTGTGTGTGTGTGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66608987	T T	TGGTCACT others(19): Show TGGTCACTTATATCCCACAGGGATGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp1 HG02055.hp1 HG02056.hp1 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19079.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0001 a0001c0004 a0001c0007 others(10): Show a0001c0001 a0001c0004 a0001c0007 a0001c0013 a0002c0002 a0002c0003 a0002c0006 a0004c0009 a0005c0010 a0006c0011 a0008c0017 a0009c0018 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0036 a0001c0001t0052 a0001c0001t0056 a0001c0001t0059 a0001c0004t0001 a0001c0004t0025 a0001c0004t0061 a0001c0007t0004 a0001c0013t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0013 a0002c0002t0021 a0002c0002t0026 a0002c0002t0038 a0002c0002t0044 a0002c0002t0048 a0002c0002t0049 a0002c0002t0050 a0002c0002t0057 a0002c0003t0004 a0002c0003t0051 a0002c0006t0002 a0004c0009t0001 a0005c0010t0013 a0006c0011t0035 a0008c0017t0002 a0009c0018t0003 a0010c0015t0001	a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0085 others(126): Show a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0096 a0001c0001t0002g0191 a0001c0001t0002g0264 a0001c0001t0002g0298 a0001c0001t0004g0002 a0001c0001t0011g0165 a0001c0001t0011g0255 a0001c0001t0012g0101 a0001c0001t0012g0102 a0001c0001t0012g0104 a0001c0001t0012g0105 a0001c0001t0012g0106 a0001c0001t0014g0071 a0001c0001t0014g0131 a0001c0001t0014g0137 a0001c0001t0023g0113 a0001c0001t0026g0207 a0001c0001t0027g0090 a0001c0001t0027g0091 a0001c0001t0028g0258 a0001c0001t0028g0302 a0001c0001t0032g0098 a0001c0001t0036g0238 a0001c0001t0052g0201 a0001c0001t0056g0267 a0001c0001t0059g0103 a0001c0004t0001g0009 a0001c0004t0001g0014 a0001c0004t0001g0088 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0261 a0001c0004t0025g0086 a0001c0004t0061g0008 a0001c0007t0004g0117 a0001c0007t0004g0118 a0001c0007t0004g0119 a0001c0013t0004g0099 a0002c0002t0001g0116 a0002c0002t0001g0127 a0002c0002t0001g0275 a0002c0002t0001g0289 a0002c0002t0002g0139 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0166 a0002c0002t0003g0198 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0248 a0002c0002t0003g0260 a0002c0002t0003g0266 a0002c0002t0003g0268 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0279 a0002c0002t0003g0281 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0287 a0002c0002t0003g0290 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0296 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0004g0108 a0002c0002t0004g0120 a0002c0002t0004g0121 a0002c0002t0004g0123 a0002c0002t0004g0125 a0002c0002t0004g0199 a0002c0002t0004g0200 a0002c0002t0009g0011 a0002c0002t0009g0012 a0002c0002t0009g0013 a0002c0002t0009g0017 a0002c0002t0009g0135 a0002c0002t0009g0259 a0002c0002t0013g0241 a0002c0002t0013g0247 a0002c0002t0021g0299 a0002c0002t0026g0249 a0002c0002t0038g0269 a0002c0002t0044g0126 a0002c0002t0048g0280 a0002c0002t0049g0288 a0002c0002t0050g0295 a0002c0002t0057g0286 a0002c0003t0004g0154 a0002c0003t0004g0155 a0002c0003t0051g0112 a0002c0006t0002g0212 a0004c0009t0001g0192 a0004c0009t0001g0193 a0005c0010t0013g0242 a0005c0010t0013g0243 a0006c0011t0035g0149 a0008c0017t0002g0010 a0009c0018t0003g0265 a0010c0015t0001g0110	129	302	0.4272	26	c.11- others(43): Show c.11-16825_11-16800dupATATCCCACAGGGATGAAGGTCACTT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630824	A A	AAAGAGAA others(19): Show AAAGAGAAGAAAGAGAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0114 a0001c0007t0004g0114	1	302	0.0033	26	c.75- others(41): Show c.75-2242_75-2241insGAAGAAAGAGAGAAAGAGAGAGAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134220058	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	250	0.0040	26	c.286 others(45): Show c.286-12653_286-12628dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03017.hp1 NA20905.hp2 HG02056.hp2 HG03017.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011	a0001c0002t0002g0051 a0001c0002t0008g0123 a0001c0002t0011g0034 a0001c0002t0002g0051 a0001c0002t0008g0123 a0001c0002t0011g0034	3	142	0.0211	26	c.-12 others(47): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA19056.hp1 NA19091.hp1 others(1): Show HG01993.hp2 NA19056.hp1 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0155 a0001c0002t0001g0212 others(1): Show a0001c0002t0001g0090 a0001c0002t0001g0155 a0001c0002t0001g0212 a0001c0002t0001g0264	4	312	0.0128	26	c.-23 others(47): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574961	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02615.hp1 NA18940.hp1 others(4): Show HG01978.hp1 HG02615.hp1 NA18940.hp1 NA18960.hp2 NA19003.hp2 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0279 a0001c0002t0001g0253 a0001c0002t0001g0254 others(4): Show a0001c0001t0001g0279 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0287 a0001c0002t0001g0290 a0001c0002t0002g0275	7	312	0.0224	26	c.-58 others(47): Show c.-589+15191_-589+15192insTATATATATATATATATATATATA TA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG04115.hp2 NA18949.hp2 others(1): Show HG00673.hp2 HG04115.hp2 NA18949.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0173 a0002c0005t0001g0144	4	312	0.0128	26	c.-58 others(47): Show c.-589+15189_-589+15190insTATATATATATATATATATATATA TA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS2_chr4_107819932_107920047	107902289	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	270	0.0037	26	c.574 others(41): Show c.574-932_574-931insAAAAAAAAAAAAAAAAAAAAAAAAAA	SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SGO2_chr2_200521207_200589096	200522317	A A	ATTCTTTC others(19): Show ATTCTTTCTTTCTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01975.hp1 others(9): Show HG00323.hp1 HG00323.hp2 HG01975.hp1 HG01978.hp1 HG02300.hp2 HG02622.hp2 HG04115.hp1 NA18965.hp1 NA18987.hp2 NA19055.hp2 NA19064.hp1 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0002c0005 a0006c0009 a0001c0003 a0002c0005 a0006c0009	a0001c0003t0002 a0002c0005t0003 a0006c0009t0002 a0001c0003t0002 a0002c0005t0003 a0006c0009t0002	a0001c0003t0002g0005 a0001c0003t0002g0026 a0001c0003t0002g0106 others(8): Show a0001c0003t0002g0005 a0001c0003t0002g0026 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0110 a0001c0003t0002g0114 a0001c0003t0002g0133 a0002c0005t0003g0098 a0002c0005t0003g0103 a0002c0005t0003g0121 a0006c0009t0002g0028	12	384	0.0313	26	c.-39 others(37): Show c.-3938_-3937insTTCTTTCTTTCTCTTTCTTTCTTTCT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		3889		chr2	TogoVar
SGPL1_chr10_70810948_70886184	70817118	C C	CAAGCGAT others(19): Show CAAGCGATCCTCCTGCCTCAGCCTCCT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	402	0.0025	26	c.27+ others(39): Show c.27+245_27+246insCCTCCTGCCTCAGCCTCCTAAGCGAT	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01074.hp1 others(13): Show HG00735.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01256.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG03492.hp1 NA18906.hp1 NA18946.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19072.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0030 a0001c0001t0039 a0001c0002t0080 a0001c0006t0011	a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0101 others(13): Show a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0002g0034 a0001c0001t0002g0117 a0001c0001t0003g0077 a0001c0001t0005g0094 a0001c0001t0008g0067 a0001c0001t0011g0078 a0001c0001t0011g0131 a0001c0001t0013g0025 a0001c0001t0030g0072 a0001c0001t0039g0019 a0001c0002t0080g0107 a0001c0006t0011g0074	16	272	0.0588	26	c.-23 others(37): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGPP2_chr2_222419543_222567621	222435028	G G	GTATATAT others(19): Show GTATATATATGTGTATATATATACACA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02809.hp1 HG02922.hp1 HG01496.hp2 HG02809.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0017 a0001c0002t0009 a0001c0010t0018 a0001c0001t0017 a0001c0002t0009 a0001c0010t0018	a0001c0001t0017g0262 a0001c0002t0009g0263 a0001c0010t0018g0259 a0001c0001t0017g0262 a0001c0002t0009g0263 a0001c0010t0018g0259	3	272	0.0110	26	c.219 others(45): Show c.219+10208_219+10233dupTATATATATGTGTATATATATACACA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	422	0.0024	26	c.57+ others(41): Show c.57+1044_57+1045insTATATATATATATATATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2338786	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0140 a0006c0007t0001g0140	1	422	0.0024	26	c.57+ others(41): Show c.57+1044_57+1045insTATATATATATATATATATATAAATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM3_chr22_40365594_40415289	40369432	A A	AAATATAC others(19): Show AAATATACATTCATATATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02258.hp2 HG02572.hp1 others(3): Show HG00639.hp2 HG02258.hp2 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0065 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0065 a0001c0001t0001g0132 a0001c0001t0001g0232 a0001c0001t0001g0233	6	292	0.0206	26	c.-13 others(37): Show c.-1368_-1367insAATATACATTCATATATATTATATAT	SGSM3	ENSG00000100359.21	transcript	ENST00000248929.14	protein_coding		1161		chr22	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02559.hp2 HG02895.hp1 others(1): Show HG01934.hp1 HG02559.hp2 HG02895.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0245 others(1): Show a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0245 a0001c0001t0004g0259	4	406	0.0099	26	c.-29 others(43): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D1A_chrX_124341563_124378160	124351067	T T	TTTTATAT others(19): Show TTTTATATATATTATTATAAATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	318	0.0031	26	c.137 others(43): Show c.137+4301_137+4326dupATTATAAATATATATTTATATATATT	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375177	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	318	0.0031	26	c.37 others(37): Show c.3786_*3787insTCTCTCTCTCTATATATATATATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2018		chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375202	T T	TACATATA others(19): Show TACATATATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	318	0.0031	26	c.38 others(37): Show c.3811_*3812insACATATATACACACACACACACACAC	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2043		chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375202	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	318	0.0031	26	c.38 others(37): Show c.3811_*3812insATATATATATATATATATACACACAC	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2043		chrX	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG01515.hp2 others(8): Show HG00558.hp1 HG00597.hp1 HG01515.hp2 HG02257.hp1 HG02559.hp2 HG02723.hp1 NA18955.hp2 NA18977.hp1 NA18978.hp1 NA19000.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0036	11	410	0.0268	26	c.-36 others(35): Show c.-365_-340dupGAGAGAGAGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4A_chr8_19308693_19401218	19373455	T T	TATATATA others(19): Show TATATATATATATATACACACACACCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG02572.hp2 others(2): Show HG00738.hp1 HG01099.hp2 HG02572.hp2 HG02615.hp1 NA20300.hp1	a0002 a0008 a0002 a0008	a0002c0004 a0008c0019 a0002c0004 a0008c0019	a0002c0004t0003 a0008c0019t0014 a0002c0004t0003 a0008c0019t0014	a0002c0004t0003g0002 a0002c0004t0003g0054 a0002c0004t0003g0058 others(1): Show a0002c0004t0003g0002 a0002c0004t0003g0054 a0002c0004t0003g0058 a0008c0019t0014g0064	5	354	0.0141	26	c.918 others(39): Show c.918-65_918-64insATATACACACACACCCATATATATAT	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr8	TogoVar

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