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	37921363	A A	AGCATGGT others(13): Show AGCATGGTCCGGGACTGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0062 a0003c0002t0002g0062	1	472	0.0021	20	c.-48 others(31): Show c.-4846_-4827dupCTCCCAGTCCCGGACCATGC	SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding		4547		chr7	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG01496.hp2 others(3): Show HG00140.hp1 HG01243.hp2 HG01496.hp2 HG02273.hp1 HG03669.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0073 a0001c0001t0001g0179 a0001c0001t0001g0212 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0179 a0001c0001t0001g0212 a0001c0001t0001g0232 a0001c0002t0001g0286 a0001c0002t0001g0303	6	318	0.0189	20	c.240 others(39): Show c.2409-2660_2409-2641dupTATATATATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFT2D3_chr2_127696497_127710242	127700118	G G	GTATATAT others(13): Show GTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	386	0.0026	20	c.-14 others(31): Show c.-1411_-1410insTATATATATATATATATATA	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1378		chr2	TogoVar
SFT2D3_chr2_127696497_127710242	127700120	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	386	0.0026	20	c.-14 others(31): Show c.-1409_-1408insTGTGTATATATATATATATA	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1376		chr2	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01943.hp1 HG00140.hp1 HG01943.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0000 a0003c0003t0003g0000 a0002c0002t0002g0000 a0003c0003t0003g0000	2	386	0.0052	20	c.-13 others(31): Show c.-1391_-1390insTATATATATATATATATTTT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFTA2_chr6_30926353_30937170	30933451	T T	TCCTCCCT others(13): Show TCCTCCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0007	1	435	0.0023	20	c.-13 others(31): Show c.-1356_-1355insGAGGGAGGGAGGGAGGGAGG	SFTA2	ENSG00000196260.5	transcript	ENST00000359086.4	protein_coding		1282		chr6	TogoVar
SFTPC_chr8_22156798_22169479	22165882	C C	CGTGCGTG others(13): Show CGTGCGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	466	0.0022	20	c.16 others(31): Show c.1635_*1636insGTGCGTGTGTGTGTGTGTGT	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		1404		chr8	TogoVar
SFTPC_chr8_22156798_22169479	22165882	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG03834.hp1 others(5): Show HG00544.hp2 HG00621.hp1 HG03834.hp1 HG03942.hp1 NA18942.hp1 NA18959.hp1 NA18974.hp2 NA19009.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0009	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0006c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0002c0002t0002g0001 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0002c0002t0002g0001 a0002c0002t0002g0007 a0003c0003t0002g0001 a0006c0009t0001g0005	8	466	0.0172	20	c.16 others(31): Show c.1635_*1636insGTGTGTGTGTGTGTGTGTGT	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		1404		chr8	TogoVar
SFXN1_chr5_175473560_175534742	175531746	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0013 a0001c0003t0043g0013	1	372	0.0027	20	c.50 others(31): Show c.5012_*5013insTTTTTTTTTTTTTTTTTTTT	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding		2005		chr5	TogoVar
SFXN2_chr10_102709636_102748492	102746848	G G	GCACAATC others(13): Show GCACAATCTTTTTTTTACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG06807.hp2 NA20129.hp2 HG02258.hp1 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0048 a0001c0002t0029 a0001c0001t0004 a0001c0001t0048 a0001c0002t0029	a0001c0001t0004g0207 a0001c0001t0048g0213 a0001c0002t0029g0142 a0001c0001t0004g0207 a0001c0001t0048g0213 a0001c0002t0029g0142	3	404	0.0074	20	c.90 others(31): Show c.9086_*9087insCACAATCTTTTTTTTACATA	SFXN2	ENSG00000156398.13	transcript	ENST00000369893.10	protein_coding		3357		chr10	TogoVar
SFXN4_chr10_119135767_119170714	119135791	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	432	0.0023	20	c.54 others(31): Show c.5431_*5450dupTTTTTTTTTTTTTTTTTTTT	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding		4975		chr10	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCACAC others(13): Show GCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03239.hp2 HG02071.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0241 a0001c0002t0001g0205 a0001c0001t0001g0241 a0001c0002t0001g0205	2	250	0.0080	20	c.171 others(37): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02818.hp2 HG02976.hp1 others(4): Show HG00733.hp2 HG02818.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp2 NA18998.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0001c0010	a0001c0002t0001 a0001c0002t0003 a0001c0003t0006 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0006 a0001c0006t0007 a0001c0010t0007	a0001c0002t0001g0035 a0001c0002t0001g0049 a0001c0002t0001g0216 others(4): Show a0001c0002t0001g0035 a0001c0002t0001g0049 a0001c0002t0001g0216 a0001c0002t0003g0021 a0001c0003t0006g0022 a0001c0006t0007g0025 a0001c0010t0007g0247	7	250	0.0280	20	c.171 others(37): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03486.hp1 HG03540.hp2 others(3): Show HG02738.hp2 HG03486.hp1 HG03540.hp2 NA18973.hp2 NA19030.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0023	a0001c0001t0002g0089 a0001c0002t0001g0033 a0001c0002t0001g0048 others(3): Show a0001c0001t0002g0089 a0001c0002t0001g0033 a0001c0002t0001g0048 a0001c0002t0001g0066 a0001c0002t0002g0197 a0001c0002t0023g0238	6	250	0.0240	20	c.171 others(37): Show c.171+8139_171+8140insTGTGTGTGTGTGTGCGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCGC others(13): Show GCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0019 a0001c0003t0006g0019	1	250	0.0040	20	c.171 others(37): Show c.171+8139_171+8140insTGTGTGTGTGTGCGCGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050420	A A	ACACACAC others(13): Show ACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02630.hp1 HG01099.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0012 a0001c0004t0005 a0001c0002t0012 a0001c0004t0005	a0001c0002t0012g0091 a0001c0004t0005g0092 a0001c0002t0012g0091 a0001c0004t0005g0092	2	250	0.0080	20	c.171 others(37): Show c.171+8107_171+8108insGGTGTGTGTGTGTGTGTGTG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 homoSapiens_chm13v2.hp1 HG02055.hp1 HG02965.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0050 a0001c0002t0060 a0001c0002t0011 a0001c0002t0050 a0001c0002t0060	a0001c0002t0011g0090 a0001c0002t0050g0072 a0001c0002t0060g0074 a0001c0002t0011g0090 a0001c0002t0050g0072 a0001c0002t0060g0074	3	150	0.0200	20	c.192 others(37): Show c.192+5587_192+5588insATATATATATATATATATAT	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(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19057.hp1 HG02965.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0060 a0001c0002t0002 a0001c0002t0060	a0001c0002t0002g0087 a0001c0002t0060g0074 a0001c0002t0002g0087 a0001c0002t0060g0074	2	150	0.0133	20	c.192 others(39): Show c.192+62124_192+62143dupTATATATATATATATATATA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156444064	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0026 a0001c0002t0044g0026	1	150	0.0067	20	c.193 others(39): Show c.193-64504_193-64485dupTCTCTCTCTCTCTCTCTCTC	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156504392	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0057 a0001c0001t0013g0057	1	150	0.0067	20	c.193 others(37): Show c.193-4195_193-4176dupATATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156558088	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19030.hp1 HG03704.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0056 a0001c0001t0027 a0001c0002t0056	a0001c0001t0027g0011 a0001c0002t0056g0096 a0001c0001t0027g0011 a0001c0002t0056g0096	2	150	0.0133	20	c.295 others(39): Show c.295-31126_295-31107dupATATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156558088	A A	AATGTATA others(13): Show AATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0013 a0001c0001t0018 a0001c0002t0013	a0001c0001t0018g0039 a0001c0002t0013g0032 a0001c0001t0018g0039 a0001c0002t0013g0032	2	150	0.0133	20	c.295 others(39): Show c.295-31141_295-31140insGTATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156736486	C C	CCATAAAA others(13): Show CCATAAAAAACACTTACCTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02615.hp1 HG02630.hp1 others(7): Show HG01981.hp1 HG02615.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0013 a0001c0001t0041 others(3): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0041 a0001c0001t0043 a0001c0002t0013 a0001c0002t0019	a0001c0001t0012g0010 a0001c0001t0012g0059 a0001c0001t0012g0060 others(7): Show a0001c0001t0012g0010 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0013g0057 a0001c0001t0041g0028 a0001c0001t0043g0139 a0001c0002t0013g0030 a0001c0002t0013g0032 a0001c0002t0019g0031 a0001c0002t0019g0033	10	150	0.0667	20	c.576 others(39): Show c.576-21094_576-21075dupCATAAAAAACACTTACCTTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23225780	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0259 a0001c0007t0003g0259	1	354	0.0028	20	c.196 others(37): Show c.196-8822_196-8803dupACACACACACACACACACAC	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23275120	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(5): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00733.hp2 HG02074.hp2 HG03669.hp1 NA18747.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0004 a0001c0003t0006 a0001c0004t0006 a0001c0005t0002	a0001c0001t0001g0236 a0001c0001t0005g0154 a0001c0002t0001g0233 others(5): Show a0001c0001t0001g0236 a0001c0001t0005g0154 a0001c0002t0001g0233 a0001c0003t0004g0044 a0001c0003t0006g0005 a0001c0003t0006g0022 a0001c0004t0006g0337 a0001c0005t0002g0323	8	354	0.0226	20	c.386 others(37): Show c.386-4235_386-4216dupTATATATATATATATATATA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23314382	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01081.hp1 others(14): Show HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01361.hp2 HG01433.hp2 HG02615.hp2 HG02922.hp1 HG02922.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18949.hp1 NA18962.hp2 NA18988.hp1 NA19079.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0006 a0002c0008 a0002c0010	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0004 a0001c0003t0006 a0001c0004t0008 a0001c0005t0005 a0001c0007t0012 a0002c0006t0003 a0002c0008t0003 a0002c0010t0003	a0001c0001t0001g0085 a0001c0001t0001g0160 a0001c0001t0001g0208 others(14): Show a0001c0001t0001g0085 a0001c0001t0001g0160 a0001c0001t0001g0208 a0001c0001t0005g0154 a0001c0002t0001g0164 a0001c0002t0001g0175 a0001c0002t0001g0267 a0001c0002t0001g0336 a0001c0003t0004g0036 a0001c0003t0006g0167 a0001c0004t0008g0166 a0001c0004t0008g0241 a0001c0005t0005g0151 a0001c0007t0012g0343 a0002c0006t0003g0270 a0002c0008t0003g0334 a0002c0010t0003g0318	17	354	0.0480	20	c.579 others(37): Show c.579-6248_579-6229dupTATATATATATATATATATA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23314382	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02145.hp2 HG02622.hp2 others(3): Show HG00597.hp2 HG02145.hp2 HG02622.hp2 NA18943.hp1 NA18957.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003	a0001c0001t0002g0048 a0001c0001t0002g0296 a0001c0001t0003g0306 others(3): Show a0001c0001t0002g0048 a0001c0001t0002g0296 a0001c0001t0003g0306 a0001c0002t0002g0223 a0001c0002t0002g0249 a0001c0002t0003g0067	6	354	0.0170	20	c.579 others(37): Show c.579-6254_579-6253insTTATATATATATATATATAT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCZ_chr8_14079845_15243431	14231160	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19030.hp2 HG02809.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0063 a0001c0001t0027 a0001c0001t0063	a0001c0001t0027g0010 a0001c0001t0063g0094 a0001c0001t0027g0010 a0001c0001t0063g0094	2	102	0.0196	20	c.424 others(37): Show c.424+6412_424+6431dupACACACACACACACACACAC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	4/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14326111	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp1 NA20129.hp2 HG03486.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0045 a0001c0001t0064 a0001c0001t0019 a0001c0001t0045 a0001c0001t0064	a0001c0001t0019g0028 a0001c0001t0045g0008 a0001c0001t0064g0069 a0001c0001t0019g0028 a0001c0001t0045g0008 a0001c0001t0064g0069	3	102	0.0294	20	c.235 others(37): Show c.235-1908_235-1907insTTTTTTTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14427049	T T	TGAATGAG others(13): Show TGAATGAGTGAATGAACGAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0055 a0001c0001t0059g0055	1	102	0.0098	20	c.235 others(41): Show c.235-102846_235-102845insGTTCGTTCATTCACTCATTC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14645464	T T	TTATATAT others(13): Show TTATATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0032 a0001c0001t0037g0032	1	102	0.0098	20	c.40- others(37): Show c.40-90539_40-90538insTATATAAATATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14645478	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp2 HG02809.hp1 others(1): Show HG02132.hp1 HG02132.hp2 HG02809.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0049 a0001c0001t0057 others(1): Show a0001c0001t0006 a0001c0001t0049 a0001c0001t0057 a0001c0001t0070	a0001c0001t0006g0083 a0001c0001t0049g0046 a0001c0001t0057g0087 others(1): Show a0001c0001t0006g0083 a0001c0001t0049g0046 a0001c0001t0057g0087 a0001c0001t0070g0081	4	102	0.0392	20	c.40- others(37): Show c.40-90553_40-90552insTATATATATATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14645478	T T	TTATATAT others(13): Show TTATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0043 a0003c0003t0043	a0003c0003t0043g0041 a0003c0003t0043g0041	1	102	0.0098	20	c.40- others(37): Show c.40-90553_40-90552insTAAATATATATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14669357	C C	CTAAGTAA others(13): Show CTAAGTAAGTAAGTAAGTAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG03139.hp1 others(2): Show HG00642.hp2 HG01081.hp1 HG03139.hp1 HG03195.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0047 a0001c0001t0076 others(2): Show a0001c0001t0011 a0001c0001t0047 a0001c0001t0076 a0001c0001t0087 a0002c0002t0004	a0001c0001t0011g0042 a0001c0001t0047g0043 a0001c0001t0076g0073 others(2): Show a0001c0001t0011g0042 a0001c0001t0047g0043 a0001c0001t0076g0073 a0001c0001t0087g0088 a0002c0002t0004g0039	5	102	0.0490	20	c.40- others(39): Show c.40-114451_40-114432dupCTTACTTACTTACTTACTTA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14669385	G G	GTAAGTAA others(13): Show GTAAGTAAGTAAGTAAATAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0059 a0001c0001t0085g0059	1	102	0.0098	20	c.40- others(39): Show c.40-114460_40-114459insTTTATTTACTTACTTACTTA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14669385	G G	GTAAGTAA others(13): Show GTAAGTAAGTAAGTAAGTAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0102 a0001c0001t0091g0102	1	102	0.0098	20	c.40- others(39): Show c.40-114460_40-114459insTTTACTTACTTACTTACTTA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14674928	G G	GCTTTTTT others(13): Show GCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0082 a0001c0001t0062g0082	1	102	0.0098	20	c.40- others(39): Show c.40-120003_40-120002insAAAAAAAAAAAAAAAAAAAG	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14676346	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp2 HG01978.hp1 others(3): Show HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02132.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0025 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0025 a0001c0001t0044 a0001c0001t0070 a0001c0001t0084	a0001c0001t0005g0072 a0001c0001t0006g0083 a0001c0001t0025g0022 others(3): Show a0001c0001t0005g0072 a0001c0001t0006g0083 a0001c0001t0025g0022 a0001c0001t0044g0033 a0001c0001t0070g0081 a0001c0001t0084g0101	6	102	0.0588	20	c.40- others(39): Show c.40-121440_40-121421dupCACACACACACACACACACA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14717996	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01258.hp1 HG03195.hp2 others(1): Show HG01243.hp2 HG01258.hp1 HG03195.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0020 a0001c0001t0083	a0001c0001t0002g0086 a0001c0001t0018g0037 a0001c0001t0020g0025 others(1): Show a0001c0001t0002g0086 a0001c0001t0018g0037 a0001c0001t0020g0025 a0001c0001t0083g0057	4	102	0.0392	20	c.40- others(39): Show c.40-163071_40-163070insATATATATATATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14726311	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0093 a0001c0001t0078g0093	1	102	0.0098	20	c.40- others(39): Show c.40-171386_40-171385insATATATATATATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14860708	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp1 NA18906.hp1 HG03139.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0054 a0001c0001t0088 a0001c0001t0016 a0001c0001t0054 a0001c0001t0088	a0001c0001t0016g0017 a0001c0001t0054g0058 a0001c0001t0088g0054 a0001c0001t0016g0017 a0001c0001t0054g0058 a0001c0001t0088g0054	3	102	0.0294	20	c.40- others(39): Show c.40-305802_40-305783dupTTCTTTCTTTCTTTCTTTCT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15097861	T T	TGTATATA others(13): Show TGTATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18959.hp2 NA19000.hp2 HG02809.hp2 NA18959.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0027 a0001c0001t0080 a0001c0001t0006 a0001c0001t0027 a0001c0001t0080	a0001c0001t0006g0083 a0001c0001t0027g0010 a0001c0001t0080g0090 a0001c0001t0006g0083 a0001c0001t0027g0010 a0001c0001t0080g0090	3	102	0.0294	20	c.39+ others(39): Show c.39+139723_39+139724insGTATATATATATATATATAC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15223856	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0010 a0001c0001t0027g0010	1	102	0.0098	20	c.39+ others(37): Show c.39+13709_39+13728dupTAAATAAATAAATAAATAAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66545628	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0301 a0002c0002t0003g0301	1	302	0.0033	20	c.10+ others(37): Show c.10+11282_10+11301dupGTGTGTGTGTGTGTGTGTGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66549137	G G	GCCTGCCT others(13): Show GCCTGCCTTCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	302	0.0033	20	c.10+ others(37): Show c.10+14772_10+14773insGCCTTCCTGCCTTCCTTCCT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66585570	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18991.hp1 HG02647.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0023 a0001c0004t0025 a0001c0001t0023 a0001c0004t0025	a0001c0001t0023g0113 a0001c0004t0025g0086 a0001c0001t0023g0113 a0001c0004t0025g0086	2	302	0.0066	20	c.11- others(37): Show c.11-40273_11-40254dupGTGTGTGTGTGTGTGTGTGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66589210	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	302	0.0033	20	c.11- others(37): Show c.11-36636_11-36635insGTGTGTGTGTGTGTGTGTGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66589212	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03225.hp2 HG03688.hp1 others(2): Show HG00140.hp1 HG03225.hp2 HG03688.hp1 HG03942.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 a0001c0001t0001 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0138 a0001c0001t0001g0172 a0001c0001t0012g0101 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0172 a0001c0001t0012g0101 a0001c0001t0012g0106 a0001c0004t0001g0009	5	302	0.0166	20	c.11- others(37): Show c.11-36634_11-36633insGTGTGTGTGTGTGTGTGTGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66589214	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18984.hp1 HG03098.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0085 a0001c0004t0001g0261 a0001c0001t0001g0085 a0001c0004t0001g0261	2	302	0.0066	20	c.11- others(37): Show c.11-36632_11-36631insGTGTGTGTGTGTGTGTGTGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630894	A A	AGGAGGGA others(13): Show AGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	302	0.0033	20	c.75- others(35): Show c.75-2175_75-2174insGAGGGAGGGAGGGAGGGAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar

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