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
SH3TC2_chr5_148977150_149068062	149020113	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01081.hp1 others(5): Show HG00642.hp1 HG00735.hp1 HG01081.hp1 HG01167.hp1 HG01243.hp2 HG02683.hp2 HG02896.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0017 a0002c0003 others(1): Show a0001c0007 a0001c0017 a0002c0003 a0002c0024	a0001c0007t0027 a0001c0007t0081 a0001c0017t0182 others(3): Show a0001c0007t0027 a0001c0007t0081 a0001c0017t0182 a0002c0003t0010 a0002c0003t0101 a0002c0024t0119	a0001c0007t0027g0211 a0001c0007t0081g0212 a0001c0017t0182g0201 others(4): Show a0001c0007t0027g0211 a0001c0007t0081g0212 a0001c0017t0182g0201 a0002c0003t0010g0019 a0002c0003t0010g0259 a0002c0003t0101g0258 a0002c0024t0119g0228	8	326	0.0245	18	c.305 others(37): Show c.3053+6441_3053+6458dupGTGTGTGTGTGTGTGTGT	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SHANK1_chr19_50654255_50724802	50678791	A A	ATGGGGAG others(11): Show ATGGGGAGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02723.hp1 others(2): Show HG01109.hp2 HG02109.hp2 HG02723.hp1 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0025 a0001c0003t0064 others(1): Show a0001c0003t0010 a0001c0003t0025 a0001c0003t0064 a0001c0003t0099	a0001c0003t0010g0172 a0001c0003t0010g0284 a0001c0003t0025g0008 others(2): Show a0001c0003t0010g0172 a0001c0003t0010g0284 a0001c0003t0025g0008 a0001c0003t0064g0044 a0001c0003t0099g0308	5	316	0.0158	18	c.257 others(37): Show c.2578-6678_2578-6677insCACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678884	A A	ATGGGGAG others(11): Show ATGGGGAGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0005 a0017c0037t0005	a0017c0037t0005g0120 a0017c0037t0005g0120	1	316	0.0032	18	c.257 others(37): Show c.2578-6788_2578-6771dupCACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50679013	A A	ATGGGGAG others(11): Show ATGGGGAGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0038 a0002c0001t0038	a0002c0001t0038g0005 a0002c0001t0038g0005	1	316	0.0032	18	c.257 others(37): Show c.2578-6917_2578-6900dupCACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHC3_chr9_89000771_89183818	89035830	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	188	0.0053	18	c.165 others(37): Show c.1656+2145_1656+2162dupATATATATATATATATAT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	11/11			chr9	TogoVar
SHC4_chr15_48818741_48968919	48897756	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG01255.hp1 others(26): Show HG00140.hp2 HG00558.hp1 HG01255.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp2 NA18941.hp1 NA18966.hp1 NA18999.hp2 NA19030.hp2 NA19064.hp2 NA19076.hp2 NA19080.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0004 a0001c0006t0001 a0002c0003t0003 a0005c0009t0001	a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0082 others(26): Show a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0082 a0001c0001t0001g0126 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0255 a0001c0001t0001g0347 a0001c0001t0001g0369 a0001c0001t0002g0085 a0001c0001t0002g0351 a0001c0001t0004g0175 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0088 a0001c0001t0009g0018 a0001c0002t0004g0118 a0001c0002t0004g0157 a0001c0002t0004g0248 a0001c0002t0004g0367 a0001c0006t0001g0318 a0002c0003t0003g0046 a0002c0003t0003g0185 a0002c0003t0003g0263 a0002c0003t0003g0311 a0005c0009t0001g0103	29	384	0.0755	18	c.657 others(35): Show c.657-6963_657-6946dupGTGTGTGTGTGTGTGTGT	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG03130.hp2 others(1): Show HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0109 a0001c0001t0005g0301 a0001c0001t0010g0065 others(1): Show a0001c0001t0005g0109 a0001c0001t0005g0301 a0001c0001t0010g0065 a0001c0001t0010g0193	4	384	0.0104	18	c.656 others(35): Show c.656+5566_656+5583dupAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182898862	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02486.hp1 HG02559.hp1 others(6): Show HG01192.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 others(6): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0009t0001g0258 a0001c0009t0001g0260	9	302	0.0298	18	c.11 others(29): Show c.1120_*1121insTTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1002		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(11): Show GAAAGGAAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0297 a0006c0007t0001g0297	1	302	0.0033	18	c.118 others(37): Show c.1182+4945_1182+4946insTCTTTCTTCCTTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924797	A A	AGAGAGAA others(11): Show AGAGAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG02622.hp2 HG02886.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0056 a0003c0006t0001g0062 a0003c0006t0001g0056 a0003c0006t0001g0062	2	302	0.0066	18	c.118 others(37): Show c.1182+4849_1182+4850insCCTTCCTTCCTTTCTCTC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924976	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	302	0.0033	18	c.118 others(37): Show c.1182+4670_1182+4671insCTTTCTTTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01069.hp1 others(8): Show HG00621.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp1 HG02129.hp2 HG02976.hp1 HG03540.hp1 NA18522.hp2 NA18962.hp1 NA19056.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0003c0004t0001 a0001c0001t0001 a0001c0001t0004 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0047 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0154 a0001c0001t0004g0090 a0003c0004t0001g0022 a0003c0004t0001g0023	11	184	0.0598	18	c.597 others(35): Show c.597-2173_597-2156dupAAAAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHISA2_chr13_26039597_26057016	26049863	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01516.hp2 others(6): Show HG00323.hp2 HG01074.hp2 HG01516.hp2 HG02293.hp1 HG04204.hp2 NA18940.hp1 NA18975.hp2 NA18985.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0002t0002	a0001c0001t0001g0042 a0001c0001t0001g0112 a0001c0001t0003g0041 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0112 a0001c0001t0003g0041 a0001c0001t0025g0111 a0001c0002t0002g0040 a0001c0002t0002g0110	9	456	0.0197	18	c.334 others(33): Show c.334+761_334+778dupGTGTGTGTGTGTGTGTGT	SHISA2	ENSG00000180730.5	transcript	ENST00000319420.4	protein_coding	1/1			chr13	TogoVar
SHISA6_chr17_11236213_11569063	11237575	G G	GGAAGAAG others(11): Show GGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01168.hp1 HG01169.hp2 others(5): Show HG01071.hp2 HG01168.hp1 HG01169.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0002g0156 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0053 a0001c0002t0002g0020 a0001c0002t0002g0090 a0001c0002t0002g0091	8	192	0.0417	18	c.-38 others(29): Show c.-3848_-3847insGAAGAAGAAGAAGAAGAA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding		3637		chr17	TogoVar
SHISA6_chr17_11236213_11569063	11276684	C C	CCACCACC others(11): Show CCACCACCATCATCACCAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0046 a0001c0001t0026g0046	1	192	0.0052	18	c.799 others(37): Show c.799+13168_799+13185dupCATCACCATCACCACCAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0110 a0001c0002t0051g0110	1	192	0.0052	18	c.799 others(37): Show c.799+13755_799+13756insTCTCACACACACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0116 a0001c0001t0031g0116	1	192	0.0052	18	c.799 others(37): Show c.799+13755_799+13756insTCTCTCACACACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(11): Show TCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG00639.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0041 a0001c0001t0013 a0001c0002t0041	a0001c0001t0013g0115 a0001c0002t0041g0178 a0001c0001t0013g0115 a0001c0002t0041g0178	2	192	0.0104	18	c.799 others(37): Show c.799+13755_799+13756insTCTCTCTCACACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0008g0125 a0001c0001t0008g0126	2	192	0.0104	18	c.799 others(37): Show c.799+13755_799+13756insTCTCTCTCTCACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	192	0.0052	18	c.799 others(37): Show c.799+13755_799+13756insTCTCTCTCTCTCACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01981.hp2 HG02129.hp2 HG01496.hp1 HG01981.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0010g0182 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0010g0182	3	192	0.0156	18	c.799 others(37): Show c.799+13755_799+13756insTCTCTCTCTCTCTCACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11397395	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0178 a0001c0002t0041g0178	1	192	0.0052	18	c.895 others(37): Show c.895+17904_895+17921dupGTGTGTGTGTGTGTGTGT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12925473	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01975.hp1 HG02083.hp1 others(7): Show HG00673.hp2 HG01975.hp1 HG02083.hp1 HG02132.hp1 HG02165.hp1 HG02683.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0043 a0001c0001t0044 a0001c0001t0081 a0001c0001t0084 a0001c0001t0090 a0001c0003t0069	a0001c0001t0001g0031 a0001c0001t0002g0213 a0001c0001t0005g0179 others(7): Show a0001c0001t0001g0031 a0001c0001t0002g0213 a0001c0001t0005g0179 a0001c0001t0015g0032 a0001c0001t0043g0030 a0001c0001t0044g0033 a0001c0001t0081g0170 a0001c0001t0084g0151 a0001c0001t0090g0171 a0001c0003t0069g0166	10	214	0.0467	18	c.691 others(35): Show c.691+8658_691+8659insTGTGTGTGTGTGTGTGTA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4			chr16	TogoVar
SHISA9_chr16_12896598_13245416	13004962	A A	AAAAAGAA others(11): Show AAAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0158 a0001c0001t0039g0158	1	214	0.0047	18	c.691 others(37): Show c.691+88163_691+88164insAGAAAAGAAAGAAAGAAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13045597	T T	TGAGGGAG others(11): Show TGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02293.hp2 HG02300.hp2 HG00544.hp2 HG02293.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 a0001c0001t0002 a0001c0001t0010 a0001c0001t0018	a0001c0001t0002g0167 a0001c0001t0010g0130 a0001c0001t0018g0141 a0001c0001t0002g0167 a0001c0001t0010g0130 a0001c0001t0018g0141	3	214	0.0140	18	c.691 others(39): Show c.691+128809_691+128826dupGGGAGAGGGAGAGGGAGA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13139384	C C	CCCTTCCT others(11): Show CCCTTCCTCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0170 a0001c0001t0081g0170	1	214	0.0047	18	c.692 others(37): Show c.692-64003_692-64002insCTTCCTTCCTTCCTTCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13143009	A A	ATTTTATT others(11): Show ATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG03453.hp1 others(2): Show HG02630.hp2 HG02809.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0054 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0054 a0001c0001t0063	a0001c0001t0004g0041 a0001c0001t0004g0080 a0001c0001t0006g0079 others(2): Show a0001c0001t0004g0041 a0001c0001t0004g0080 a0001c0001t0006g0079 a0001c0001t0054g0020 a0001c0001t0063g0138	5	214	0.0234	18	c.692 others(37): Show c.692-60370_692-60369insTTTTTTTATTTTATTTTA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13197104	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG03041.hp2 others(1): Show HG01891.hp2 HG02809.hp2 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0054	a0001c0001t0002g0115 a0001c0001t0003g0081 a0001c0001t0004g0041 others(1): Show a0001c0001t0002g0115 a0001c0001t0003g0081 a0001c0001t0004g0041 a0001c0001t0054g0020	4	214	0.0187	18	c.692 others(35): Show c.692-6289_692-6288insTATATATACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13197104	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02559.hp1 others(6): Show HG02055.hp2 HG02257.hp2 HG02559.hp1 HG02647.hp2 HG02965.hp2 HG03098.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0020 a0001c0001t0024 others(6): Show a0001c0001t0013 a0001c0001t0020 a0001c0001t0024 a0001c0001t0037 a0001c0001t0039 a0001c0001t0053 a0001c0001t0065 a0001c0001t0066 a0001c0001t0080	a0001c0001t0013g0122 a0001c0001t0020g0047 a0001c0001t0024g0038 others(6): Show a0001c0001t0013g0122 a0001c0001t0020g0047 a0001c0001t0024g0038 a0001c0001t0037g0157 a0001c0001t0039g0158 a0001c0001t0053g0055 a0001c0001t0065g0056 a0001c0001t0066g0076 a0001c0001t0080g0059	9	214	0.0421	18	c.692 others(35): Show c.692-6289_692-6288insTATATATATACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13200409	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02818.hp1 NA19063.hp1 HG01993.hp2 HG02818.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0071 a0001c0002t0006 a0001c0001t0011 a0001c0001t0071 a0001c0002t0006	a0001c0001t0011g0123 a0001c0001t0071g0007 a0001c0002t0006g0117 a0001c0001t0011g0123 a0001c0001t0071g0007 a0001c0002t0006g0117	3	214	0.0140	18	c.692 others(35): Show c.692-2969_692-2952dupCACACACACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44247868	A A	AGCCACCT others(11): Show AGCCACCTGGCTTTCTTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(78): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03579.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18961.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0035 a0001c0001t0095 a0001c0001t0096 a0001c0002t0001 a0001c0002t0014 a0001c0002t0049 a0001c0004t0022	a0001c0001t0001g0006 a0001c0001t0001g0069 a0001c0001t0001g0073 others(77): Show a0001c0001t0001g0006 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0309 a0001c0001t0001g0319 a0001c0001t0001g0338 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0011g0130 a0001c0001t0011g0242 a0001c0001t0011g0251 a0001c0001t0011g0261 a0001c0001t0011g0297 a0001c0001t0011g0299 a0001c0001t0011g0300 a0001c0001t0014g0021 a0001c0001t0014g0026 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0021g0160 a0001c0001t0022g0140 a0001c0001t0022g0252 a0001c0001t0035g0075 a0001c0001t0035g0139 a0001c0001t0095g0310 a0001c0001t0096g0142 a0001c0002t0001g0103 a0001c0002t0001g0116 a0001c0002t0001g0143 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0234 a0001c0002t0001g0253 a0001c0002t0001g0281 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0350 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0014g0046 a0001c0002t0014g0048 a0001c0002t0049g0047 a0001c0004t0022g0307	81	380	0.2132	18	c.17 others(29): Show c.1799_*1816dupACAAGAAAGCCAGGTGGC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	5/5	1816		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01496.hp1 HG02257.hp2 others(15): Show HG00544.hp2 HG01496.hp1 HG02257.hp2 HG02523.hp1 HG02602.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03834.hp1 HG04115.hp2 HG06807.hp1 NA18906.hp2 NA18955.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0023 a0001c0002t0001 others(9): Show a0001c0001t0017 a0001c0001t0023 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0018 a0001c0002t0028 a0001c0002t0051 a0001c0002t0063 a0001c0002t0064 a0001c0002t0068 a0001c0002t0101	a0001c0001t0017g0035 a0001c0001t0023g0058 a0001c0002t0001g0103 others(14): Show a0001c0001t0017g0035 a0001c0001t0023g0058 a0001c0002t0001g0103 a0001c0002t0001g0152 a0001c0002t0006g0007 a0001c0002t0006g0183 a0001c0002t0006g0324 a0001c0002t0009g0328 a0001c0002t0018g0124 a0001c0002t0018g0255 a0001c0002t0028g0122 a0001c0002t0028g0123 a0001c0002t0051g0127 a0001c0002t0063g0131 a0001c0002t0064g0118 a0001c0002t0068g0248 a0001c0002t0101g0370	18	380	0.0474	18	c.600 others(37): Show c.600-11410_600-11393dupTATATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44266528	A A	ATGTGTGT others(11): Show ATGTGTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0264 a0001c0001t0083g0264	1	380	0.0026	18	c.600 others(37): Show c.600-16844_600-16843insCACACACACATACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44266528	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18947.hp2 NA18986.hp1 others(2): Show HG00438.hp2 NA18947.hp2 NA18986.hp1 NA18989.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0113 a0001c0001t0003g0109 a0001c0001t0005g0005 others(1): Show a0001c0001t0002g0113 a0001c0001t0003g0109 a0001c0001t0005g0005 a0001c0001t0005g0365	5	380	0.0132	18	c.600 others(37): Show c.600-16861_600-16844dupCACACACACACACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44267395	A A	ACCCCCAC others(11): Show ACCCCCACGTCCTTCTCAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0041 a0001c0002t0007g0041	1	380	0.0026	18	c.600 others(37): Show c.600-17711_600-17710insCTGAGAAGGACGTGGGGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44289466	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00738.hp2 others(22): Show HG00597.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01358.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02129.hp1 HG02717.hp1 HG03098.hp2 HG03927.hp1 NA18612.hp1 NA18941.hp1 NA18942.hp2 NA18966.hp1 NA18966.hp2 NA18977.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA19003.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0096 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0059 a0001c0003t0024 a0001c0007t0003	a0001c0001t0001g0272 a0001c0001t0001g0319 a0001c0001t0001g0348 others(21): Show a0001c0001t0001g0272 a0001c0001t0001g0319 a0001c0001t0001g0348 a0001c0001t0002g0080 a0001c0001t0002g0269 a0001c0001t0003g0189 a0001c0001t0004g0354 a0001c0001t0005g0167 a0001c0001t0007g0001 a0001c0001t0007g0020 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0049 a0001c0001t0009g0155 a0001c0001t0009g0284 a0001c0001t0010g0243 a0001c0001t0012g0044 a0001c0001t0096g0142 a0001c0002t0001g0314 a0001c0002t0002g0292 a0001c0002t0004g0149 a0001c0002t0059g0218 a0001c0003t0024g0030 a0001c0007t0003g0199	25	380	0.0658	18	c.282 others(35): Show c.282-3739_282-3722dupCACACACACACACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	3/4			chr22	TogoVar
SHISAL2B_chr5_64685503_64723190	64691374	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp2 HG01258.hp2 others(11): Show HG01109.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp2 HG02155.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp1 HG03942.hp2 HG04228.hp2 NA18953.hp1 NA18962.hp2 NA18999.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0073 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0071 a0002c0002t0002g0015 a0002c0002t0002g0037 a0002c0002t0002g0072 a0002c0002t0005g0015	14	390	0.0359	18	c.191 others(33): Show c.191+571_191+588dupGTGTGTGTGTGTGTGTGT	SHISAL2B	ENSG00000145642.12	transcript	ENST00000389074.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHLD1_chr20_5745401_5869395	5775923	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03540.hp2 HG02109.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0286 a0002c0004t0002g0282 a0001c0001t0001g0286 a0002c0004t0002g0282	2	328	0.0061	18	c.178 others(35): Show c.178+2885_178+2902dupTTTTTTTTTTTTTTTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5850112	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	328	0.0031	18	c.179 others(37): Show c.179-12890_179-12873dupAATAATAATAATAATAAT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOC2_chr10_110914604_111018665	110981876	T T	TTATTTAT others(11): Show TTATTTATTTATTATACTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01257.hp1 others(41): Show HG00558.hp1 HG00673.hp1 HG01257.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02273.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02976.hp2 HG03209.hp2 HG03453.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp1 NA18747.hp1 NA18952.hp2 NA18956.hp1 NA18964.hp2 NA18974.hp2 NA18975.hp1 NA18987.hp1 NA18989.hp1 NA18998.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19062.hp2 NA19065.hp1 NA19079.hp1 NA19088.hp1 NA19089.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0196 a0001c0001t0002g0002 a0001c0001t0002g0004 others(33): Show a0001c0001t0001g0196 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0002g0301 a0001c0001t0007g0191 a0001c0001t0007g0210 a0001c0001t0007g0211	44	386	0.1140	18	c.704 others(35): Show c.704-3750_704-3749insTTTATTTATTATACTCTA	SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOC2_chr10_110914604_111018665	110981876	T T	TTATTTTT others(11): Show TTATTTTTTTATTATACTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00642.hp2 others(17): Show HG00099.hp2 HG00609.hp1 HG00642.hp2 HG00738.hp2 HG01243.hp2 HG01256.hp1 HG01952.hp2 HG02300.hp2 HG02486.hp2 HG02647.hp2 HG03195.hp2 HG03490.hp2 HG03491.hp2 HG03688.hp2 HG03704.hp2 HG06807.hp1 NA18747.hp2 NA19085.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0328 a0001c0001t0004g0333 a0001c0001t0004g0335 a0001c0001t0005g0281	20	386	0.0518	18	c.704 others(35): Show c.704-3750_704-3749insTTTTTTTATTATACTCTA	SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOX2_chr3_158090905_158111420	158096924	A A	ATATATAT others(11): Show ATATATATATATATATATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0136 a0001c0001t0103g0136	1	380	0.0026	18	c.11 others(29): Show c.1102_*1103insGATATATATATATATATA	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1102		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106571	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01928.hp2 others(11): Show HG00140.hp1 HG01099.hp1 HG01928.hp2 HG02129.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02735.hp1 HG03540.hp1 HG04199.hp2 NA18966.hp1 NA18986.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0022 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0094 a0001c0001t0126 a0001c0009t0039	a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0002g0001 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0002g0001 a0001c0001t0003g0006 a0001c0001t0004g0225 a0001c0001t0021g0018 a0001c0001t0022g0025 a0001c0001t0035g0037 a0001c0001t0036g0108 a0001c0001t0038g0052 a0001c0001t0094g0156 a0001c0001t0126g0236 a0001c0009t0039g0127	14	380	0.0368	18	c.-56 others(27): Show c.-565_-548dupCTCTCTCTCTCTCTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		152		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG02970.hp1 others(1): Show HG01884.hp2 HG02818.hp1 HG02970.hp1 HG03130.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0201 a0003c0003t0001g0211 a0003c0003t0001g0212 others(1): Show a0002c0002t0001g0201 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0217	4	222	0.0180	18	c.118 others(35): Show c.1182-673_1182-672insTATATATATATATATACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG03139.hp1 HG02630.hp1 HG02976.hp1 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 a0002c0002t0001 a0002c0002t0006 a0003c0003t0001	a0002c0002t0001g0200 a0002c0002t0006g0002 a0003c0003t0001g0216 a0002c0002t0001g0200 a0002c0002t0006g0002 a0003c0003t0001g0216	3	222	0.0135	18	c.118 others(35): Show c.1182-673_1182-672insTATATATATATATACACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp1 HG02895.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0197 a0002c0002t0001g0192 a0002c0002t0001g0197	2	222	0.0090	18	c.118 others(35): Show c.1182-673_1182-672insTATATACACACACACACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72825361	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0215 a0003c0003t0001g0215	1	222	0.0045	18	c.600 others(33): Show c.600-828_600-811dupGTGTGTGTGTGTGTGTGT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	5/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852056	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	222	0.0045	18	c.-37 others(29): Show c.-3734_-3717dupGAGAGAGAGAGAGAGAGA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3612		chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9799157	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0050 a0050	a0050c0078 a0050c0078	a0050c0078t0020 a0050c0078t0020	a0050c0078t0020g0238 a0050c0078t0020g0238	1	256	0.0039	18	c.165 others(37): Show c.165+12458_165+12475dupTTTTTTTTTTTTTTTTTT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9815571	C C	CCTATATC others(11): Show CCTATATCTATATCTATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(15): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG01167.hp1 HG01358.hp1 HG01496.hp2 HG02040.hp1 HG02895.hp1 HG03130.hp1 HG03831.hp2 NA18906.hp1 NA18962.hp1 NA18966.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp2 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0002c0005 others(7): Show a0001c0001 a0002c0002 a0002c0005 a0002c0013 a0003c0006 a0003c0008 a0003c0009 a0003c0070 a0004c0015 a0007c0014	a0001c0001t0001 a0001c0001t0016 a0001c0001t0024 others(9): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0024 a0002c0002t0002 a0002c0005t0005 a0002c0013t0002 a0003c0006t0003 a0003c0008t0004 a0003c0009t0003 a0003c0070t0030 a0004c0015t0002 a0007c0014t0003	a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0151 others(15): Show a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0151 a0001c0001t0001g0203 a0001c0001t0001g0236 a0001c0001t0016g0148 a0001c0001t0024g0219 a0002c0002t0002g0032 a0002c0002t0002g0139 a0002c0002t0002g0141 a0002c0005t0005g0118 a0002c0013t0002g0089 a0003c0006t0003g0070 a0003c0008t0004g0206 a0003c0009t0003g0152 a0003c0070t0030g0071 a0004c0015t0002g0226 a0007c0014t0003g0186	18	256	0.0703	18	c.165 others(37): Show c.165+28879_165+28896dupTCTATATCTATATCTATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar

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