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
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01261.hp2 others(4): Show HG00280.hp2 HG01106.hp2 HG01261.hp2 HG01433.hp1 HG02258.hp2 NA19060.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0003 a0001c0001t0112 a0001c0002t0012 others(4): Show a0001c0001t0003 a0001c0001t0112 a0001c0002t0012 a0001c0003t0015 a0001c0003t0034 a0001c0003t0101 a0001c0005t0007	a0001c0001t0003g0186 a0001c0001t0112g0245 a0001c0002t0012g0050 others(4): Show a0001c0001t0003g0186 a0001c0001t0112g0245 a0001c0002t0012g0050 a0001c0003t0015g0181 a0001c0003t0034g0051 a0001c0003t0101g0182 a0001c0005t0007g0187	7	24	0.2917	22	c.73- others(35): Show c.73-202_73-181dupGTGTGTGTGTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329540	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG03688.hp2 HG00733.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0166 a0001c0001t0012g0258 a0001c0001t0008g0166 a0001c0001t0012g0258	2	111	0.0180	22	c.88 others(33): Show c.8828_*8829insAAAAAAAAAAAAAAAAAAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		3958		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368502	A A	ATATATAT others(15): Show ATATATATAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0051 a0005c0014t0051	a0005c0014t0051g0024 a0005c0014t0051g0024	1	278	0.0036	22	c.427 others(39): Show c.427+5287_427+5288insATATATATATATTTTATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368640	T T	TTATATAT others(15): Show TTATATATATAATATATATATTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0051 a0005c0014t0051	a0005c0014t0051g0024 a0005c0014t0051g0024	1	218	0.0046	22	c.427 others(39): Show c.427+5149_427+5150insTAATATATATATTATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169192898	T T	TATATATA others(15): Show TATATATATATCATATATATGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0206 a0002c0003t0004g0206	1	214	0.0047	22	c.394 others(41): Show c.394-36241_394-36220dupCACATATATATGATATATATAT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3RF1_chr4_169089259_169275956	169255622	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02738.hp1 HG03017.hp1 others(1): Show HG01109.hp1 HG02738.hp1 HG03017.hp1 NA19084.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0009 a0001c0001 a0002c0003 a0006c0009	a0001c0001t0001 a0002c0003t0004 a0006c0009t0004 a0001c0001t0001 a0002c0003t0004 a0006c0009t0004	a0001c0001t0001g0208 a0002c0003t0004g0063 a0002c0003t0004g0194 others(1): Show a0001c0001t0001g0208 a0002c0003t0004g0063 a0002c0003t0004g0194 a0006c0009t0004g0209	4	24	0.1667	22	c.393 others(41): Show c.393+13176_393+13197dupGTGTGTGTGTGTGTGTGTGTGT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3RF2_chr5_145931578_146068292	146047154	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG02809.hp2 others(2): Show HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02896.hp1 HG03453.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0014 a0015	a0001c0011 a0004c0008 a0005c0004 others(2): Show a0001c0011 a0004c0008 a0005c0004 a0014c0017 a0015c0012	a0001c0011t0001 a0004c0008t0001 a0005c0004t0002 others(2): Show a0001c0011t0001 a0004c0008t0001 a0005c0004t0002 a0014c0017t0001 a0015c0012t0001	a0001c0011t0001g0071 a0004c0008t0001g0156 a0005c0004t0002g0200 others(2): Show a0001c0011t0001g0071 a0004c0008t0001g0156 a0005c0004t0002g0200 a0014c0017t0001g0245 a0015c0012t0001g0198	5	181	0.0276	22	c.106 others(39): Show c.1060-615_1060-594dupGTGTGTGTGTGTGTGTGTGTGT	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109212818	C C	CTGGTGAG others(15): Show CTGGTGAGCTGGTGTGGGGTAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0050 a0001c0001t0041g0050	1	172	0.0058	22	c.573 others(41): Show c.573+82708_573+82729dupGTGAGCTGGTGTGGGGTAGGTG	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02622.hp2 HG04115.hp2 others(1): Show HG00741.hp2 HG02622.hp2 HG04115.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0020 a0001c0001 a0002c0002 a0003c0020	a0001c0001t0003 a0002c0002t0006 a0003c0020t0006 a0001c0001t0003 a0002c0002t0006 a0003c0020t0006	a0001c0001t0003g0124 a0001c0001t0003g0126 a0002c0002t0006g0154 others(1): Show a0001c0001t0003g0124 a0001c0001t0003g0126 a0002c0002t0006g0154 a0003c0020t0006g0062	4	53	0.0755	22	c.214 others(41): Show c.2148+9091_2148+9112dupGAGAGAGAGAGAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC2_chr5_148977150_149068062	149020113	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0210 a0001c0007t0027g0210	1	33	0.0303	22	c.305 others(41): Show c.3053+6437_3053+6458dupGTGTGTGTGTGTGTGTGTGTGT	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SH3YL1_chr2_213144_269032	213222	G G	GGATCTAC others(15): Show GGATCTACACTAGATCGCGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	358	0.0028	22	c.55 others(33): Show c.5588_*5589insAACACGCGATCTAGTGTAGATC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		4921		chr2	TogoVar
SH3YL1_chr2_213144_269032	235627	T T	TCAGGGGA others(15): Show TCAGGGGAGGCAGCAGCATGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(65): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01981.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG04204.hp1 NA18943.hp2 NA18949.hp2 NA18956.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19030.hp1 NA19058.hp2 NA19062.hp2 NA19067.hp1 NA19082.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0002t0002 a0001c0005t0002 a0001c0001t0002 a0001c0002t0002 a0001c0005t0002	a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 others(47): Show a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0014 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0211 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0268 a0001c0005t0002g0257	68	353	0.1926	22	c.292 others(39): Show c.292-1377_292-1356dupGCCCATGCTGCTGCCTCCCCTG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	235939	C C	CCAGGGGA others(15): Show CCAGGGGAGGCAGCAGCATGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03017.hp2 HG02109.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0090 a0001c0001t0003g0088 a0001c0001t0001g0090 a0001c0001t0003g0088	2	355	0.0056	22	c.292 others(39): Show c.292-1689_292-1668dupACCCATGCTGCTGCCTCCCCTG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	236207	T T	TCAGGGGA others(15): Show TCAGGGGAGGCAGCAGCATGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	318	0.0031	22	c.292 others(39): Show c.292-1957_292-1936dupGCCCATGCTGCTGCCTCCCCTG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SHANK1_chr19_50654255_50724802	50665900	G G	GCGCATGC others(15): Show GCGCATGCCTGTAATCCCAGCTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG00741.hp1 others(43): Show HG00597.hp2 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG01358.hp1 HG01981.hp2 HG02040.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG04184.hp1 NA18906.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0012	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0018 a0001c0032 a0002c0001 a0002c0008 a0002c0041 a0003c0005 a0006c0027 a0012c0031	a0001c0002t0018 a0001c0003t0011 a0001c0003t0012 others(36): Show a0001c0002t0018 a0001c0003t0011 a0001c0003t0012 a0001c0003t0023 a0001c0003t0036 a0001c0003t0044 a0001c0003t0067 a0001c0003t0076 a0001c0003t0102 a0001c0004t0001 a0001c0004t0014 a0001c0004t0015 a0001c0004t0016 a0001c0004t0017 a0001c0004t0026 a0001c0004t0028 a0001c0004t0077 a0001c0004t0081 a0001c0004t0096 a0001c0004t0103 a0001c0014t0087 a0001c0018t0078 a0001c0032t0018 a0002c0001t0007 a0002c0001t0008 a0002c0001t0013 a0002c0001t0018 a0002c0001t0047 a0002c0001t0092 a0002c0008t0003 a0002c0008t0013 a0002c0008t0068 a0002c0041t0013 a0003c0005t0003 a0003c0005t0016 a0003c0005t0020 a0003c0005t0043 a0006c0027t0011 a0012c0031t0029	a0001c0002t0018g0128 a0001c0003t0011g0052 a0001c0003t0012g0070 others(43): Show a0001c0002t0018g0128 a0001c0003t0011g0052 a0001c0003t0012g0070 a0001c0003t0023g0239 a0001c0003t0023g0240 a0001c0003t0036g0005 a0001c0003t0044g0011 a0001c0003t0067g0045 a0001c0003t0076g0289 a0001c0003t0102g0303 a0001c0004t0001g0104 a0001c0004t0014g0163 a0001c0004t0015g0068 a0001c0004t0016g0066 a0001c0004t0016g0083 a0001c0004t0017g0250 a0001c0004t0026g0014 a0001c0004t0026g0019 a0001c0004t0028g0234 a0001c0004t0028g0274 a0001c0004t0077g0249 a0001c0004t0081g0084 a0001c0004t0096g0297 a0001c0004t0103g0310 a0001c0014t0087g0242 a0001c0018t0078g0124 a0001c0032t0018g0177 a0002c0001t0007g0224 a0002c0001t0008g0056 a0002c0001t0013g0122 a0002c0001t0013g0172 a0002c0001t0013g0256 a0002c0001t0018g0262 a0002c0001t0047g0025 a0002c0001t0092g0217 a0002c0008t0003g0208 a0002c0008t0013g0209 a0002c0008t0068g0048 a0002c0041t0013g0255 a0003c0005t0003g0151 a0003c0005t0016g0162 a0003c0005t0020g0167 a0003c0005t0020g0215 a0003c0005t0043g0022 a0006c0027t0011g0230 a0012c0031t0029g0130	46	303	0.1518	22	c.576 others(39): Show c.5768+291_5768+292insTAGCTGGGATTACAGGCATGCG	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50665900	G G	GCGCATTC others(15): Show GCGCATTCCTGTAATCCCAGCTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02647.hp2 others(8): Show HG02109.hp2 HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03225.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp1 NA19043.hp2	a0001 a0013 a0001 a0013	a0001c0003 a0001c0004 a0001c0007 others(1): Show a0001c0003 a0001c0004 a0001c0007 a0013c0034	a0001c0003t0004 a0001c0003t0007 a0001c0003t0025 others(8): Show a0001c0003t0004 a0001c0003t0007 a0001c0003t0025 a0001c0004t0007 a0001c0004t0011 a0001c0007t0007 a0001c0007t0008 a0001c0007t0012 a0001c0007t0042 a0001c0007t0071 a0013c0034t0007	a0001c0003t0004g0081 a0001c0003t0007g0089 a0001c0003t0025g0009 others(8): Show a0001c0003t0004g0081 a0001c0003t0007g0089 a0001c0003t0025g0009 a0001c0004t0007g0065 a0001c0004t0011g0050 a0001c0007t0007g0218 a0001c0007t0008g0237 a0001c0007t0012g0079 a0001c0007t0042g0016 a0001c0007t0071g0049 a0013c0034t0007g0252	11	268	0.0410	22	c.576 others(39): Show c.5768+291_5768+292insTAGCTGGGATTACAGGAATGCG	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHC4_chr15_48818741_48968919	48897756	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02015.hp2 HG02056.hp2 others(9): Show HG01167.hp2 HG02015.hp2 HG02056.hp2 HG02129.hp2 HG03831.hp1 HG06807.hp2 NA18939.hp1 NA18953.hp1 NA18954.hp2 NA19058.hp2 NA19078.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0006t0001 a0002c0003t0003 a0002c0003t0027	a0001c0001t0001g0139 a0001c0001t0001g0194 a0001c0001t0003g0063 others(9): Show a0001c0001t0001g0139 a0001c0001t0001g0194 a0001c0001t0003g0063 a0001c0001t0003g0080 a0001c0001t0003g0231 a0001c0001t0003g0355 a0001c0002t0004g0325 a0001c0006t0001g0228 a0002c0003t0003g0170 a0002c0003t0003g0214 a0002c0003t0003g0240 a0002c0003t0027g0378	12	59	0.2034	22	c.657 others(39): Show c.657-6967_657-6946dupGTGTGTGTGTGTGTGTGTGTGT	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00741.hp2 others(20): Show HG00609.hp1 HG00621.hp1 HG00741.hp2 HG01071.hp1 HG01175.hp2 HG01243.hp2 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG02486.hp1 HG02602.hp1 HG03710.hp2 HG04184.hp1 NA18942.hp2 NA18971.hp1 NA18973.hp1 NA18986.hp1 NA18987.hp1 NA19002.hp2 NA19043.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0011 a0001c0001 a0001c0002 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0004 a0003c0011t0007	a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0141 others(20): Show a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0300 a0001c0001t0001g0314 a0001c0001t0001g0339 a0001c0001t0001g0353 a0001c0001t0002g0186 a0001c0001t0002g0307 a0001c0001t0002g0315 a0001c0001t0016g0007 a0001c0002t0004g0129 a0001c0002t0004g0131 a0001c0002t0004g0132 a0001c0002t0004g0235 a0001c0002t0004g0288 a0003c0011t0007g0110	23	67	0.3433	22	c.656 others(39): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182918171	C C	CATATATA others(15): Show CATATATACATATATATACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG01070.hp2 others(54): Show HG00140.hp2 HG00597.hp2 HG01070.hp2 HG01106.hp2 HG01192.hp2 HG01261.hp2 HG01884.hp2 HG02015.hp1 HG02027.hp2 HG02132.hp1 HG02155.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18992.hp2 NA19000.hp2 NA19006.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19086.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0008 others(2): Show a0001c0001 a0002c0002 a0003c0008 a0004c0004 a0007c0014	a0001c0001t0001 a0002c0002t0001 a0003c0008t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0008t0001 a0004c0004t0001 a0007c0014t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(54): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0141 a0001c0001t0001g0211 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0003c0008t0001g0064 a0004c0004t0001g0143 a0007c0014t0001g0302	57	300	0.1900	22	c.118 others(43): Show c.1182+11454_1182+11475dupATGTGTATATATATGTATATAT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182923462	C C	CTCAACAA others(15): Show CTCAACAAAATATTAACAAACTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	300	0.0033	22	c.118 others(41): Show c.1182+6163_1182+6184dupCAGTTTGTTAATATTTTGTTGA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924703	A A	AAGGAAAG others(15): Show AAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	291	0.0034	22	c.118 others(41): Show c.1182+4943_1182+4944insCTTTCCTTTCCTTTCCTTTCCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924976	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 NA18959.hp2 HG03130.hp2 HG03471.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0067 a0001c0001t0001g0196 a0002c0002t0001g0013 a0001c0001t0001g0067 a0001c0001t0001g0196 a0002c0002t0001g0013	3	290	0.0103	22	c.118 others(41): Show c.1182+4670_1182+4671insCTTTCTTTCTTTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	15	0.0667	22	c.597 others(39): Show c.597-2177_597-2156dupAAAAAAAAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHISA2_chr13_26039597_26057016	26049863	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18948.hp1 HG01081.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0001 a0001c0001t0042	a0001c0001t0001g0110 a0001c0001t0042g0111 a0001c0001t0001g0110 a0001c0001t0042g0111	2	91	0.0220	22	c.334 others(37): Show c.334+757_334+778dupGTGTGTGTGTGTGTGTGTGTGT	SHISA2	ENSG00000180730.5	transcript	ENST00000319420.4	protein_coding	1/1			chr13	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19084.hp2 HG02738.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0148 a0001c0001t0010g0159 a0001c0001t0003g0148 a0001c0001t0010g0159	2	83	0.0241	22	c.799 others(41): Show c.799+13755_799+13756insTCTCTCTCTCACACACACACAC	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(15): Show TCTCTCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0124 a0001c0001t0008g0124	1	82	0.0122	22	c.799 others(41): Show c.799+13755_799+13756insTCTCTCTCTCTCACACACACAC	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(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG02818.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0001t0007 a0001c0002t0003	a0001c0001t0007g0002 a0001c0002t0003g0175 a0001c0001t0007g0002 a0001c0002t0003g0175	2	4	0.5000	22	c.895 others(41): Show c.895+17900_895+17921dupGTGTGTGTGTGTGTGTGTGTGT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11526880	C C	CATATATA others(15): Show CATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02622.hp2 HG01891.hp2 HG02055.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0055 a0001c0004t0016g0102 a0001c0004t0016g0118 a0001c0004t0016g0055 a0001c0004t0016g0102 a0001c0004t0016g0118	3	8	0.3750	22	c.896 others(41): Show c.896-25001_896-25000insCATATATATATATATATATATA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA7_chr19_55423740_55448300	55435386	G G	GGTGTGTG others(15): Show GGTGTGTGTGGTGTATATGTGGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp1 others(86): Show HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03927.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp2 NA19030.hp2 NA19056.hp2 NA19059.hp1 NA19060.hp1 NA19070.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0003t0003	a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0014 others(34): Show a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0032 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0133 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0006g0105 a0001c0001t0006g0112 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0111 a0001c0001t0009g0034 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0011g0033 a0001c0001t0011g0130 a0001c0001t0011g0131 a0001c0001t0013g0021 a0001c0001t0020g0056 a0001c0001t0029g0126 a0001c0001t0030g0122 a0001c0001t0031g0132 a0001c0001t0036g0134 a0001c0003t0003g0008 a0001c0003t0003g0127	89	353	0.2521	22	c.977 others(39): Show c.977-1591_977-1590insACCACATATACACCACACACAC	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3			chr19	TogoVar
SHISA9_chr16_12896598_13245416	12925473	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTTTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	43	0.0233	22	c.691 others(39): Show c.691+8658_691+8659insTGTGTGTGTGTGTGTGTGTTTA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4			chr16	TogoVar
SHISA9_chr16_12896598_13245416	13004962	A A	AAAAGAAA others(15): Show AAAAGAAAGAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0130 a0001c0001t0038g0130	1	55	0.0182	22	c.691 others(41): Show c.691+88150_691+88151insGAAAGAAAGAAAAGAAAAGAAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015890	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp2 HG02922.hp2 others(1): Show HG01167.hp1 HG01261.hp2 HG02922.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0047 others(1): Show a0001c0001t0028 a0001c0001t0029 a0001c0001t0047 a0001c0001t0079	a0001c0001t0028g0137 a0001c0001t0029g0003 a0001c0001t0047g0174 others(1): Show a0001c0001t0028g0137 a0001c0001t0029g0003 a0001c0001t0047g0174 a0001c0001t0079g0164	4	207	0.0193	22	c.691 others(41): Show c.691+99094_691+99095insCTTTTTCTTTCTTTCTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015894	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0057 a0001c0001t0014g0057	1	209	0.0048	22	c.691 others(41): Show c.691+99094_691+99095insCTTTCTTTTTCTTTCTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13197104	T T	TATATACA others(15): Show TATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0145 a0001c0001t0012g0145	1	127	0.0079	22	c.692 others(39): Show c.692-6289_692-6288insTATACACACACACACACACACA	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(15): Show TATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG01255.hp1 others(15): Show HG00099.hp1 HG00544.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG02258.hp2 HG02738.hp2 HG02896.hp1 HG02965.hp1 HG03139.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 NA18952.hp1 NA19007.hp2 NA19063.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0035 a0001c0001t0049 a0001c0001t0084 a0001c0001t0087 a0001c0001t0089	a0001c0001t0001g0088 a0001c0001t0002g0011 a0001c0001t0002g0207 others(15): Show a0001c0001t0001g0088 a0001c0001t0002g0011 a0001c0001t0002g0207 a0001c0001t0003g0180 a0001c0001t0004g0203 a0001c0001t0008g0050 a0001c0001t0008g0077 a0001c0001t0008g0111 a0001c0001t0008g0129 a0001c0001t0011g0123 a0001c0001t0017g0193 a0001c0001t0018g0132 a0001c0001t0023g0119 a0001c0001t0035g0140 a0001c0001t0049g0074 a0001c0001t0084g0151 a0001c0001t0087g0206 a0001c0001t0089g0143	18	144	0.1250	22	c.692 others(39): Show c.692-6289_692-6288insTATATACACACACACACACACA	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(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0165 a0001c0001t0072g0165	1	154	0.0065	22	c.692 others(39): Show c.692-2973_692-2952dupCACACACACACACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02486.hp2 HG03130.hp2 others(2): Show HG01106.hp2 HG02486.hp2 HG03130.hp2 HG03486.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0002t0058 a0001c0008t0011	a0001c0001t0003g0274 a0001c0001t0006g0342 a0001c0001t0015g0216 others(2): Show a0001c0001t0003g0274 a0001c0001t0006g0342 a0001c0001t0015g0216 a0001c0002t0058g0301 a0001c0008t0011g0300	5	109	0.0459	22	c.600 others(41): Show c.600-11414_600-11393dupTATATATATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44266528	A A	ATGTGTGT others(15): Show ATGTGTGTATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20129.hp2 HG03139.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0099 a0001c0001t0022 a0001c0001t0099	a0001c0001t0022g0057 a0001c0001t0099g0367 a0001c0001t0022g0057 a0001c0001t0099g0367	2	145	0.0138	22	c.600 others(41): Show c.600-16844_600-16843insCACACACACACACATACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44266528	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	144	0.0069	22	c.600 others(41): Show c.600-16865_600-16844dupCACACACACACACACACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL2B_chr5_64685503_64723190	64691374	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02258.hp1 others(1): Show HG02145.hp1 HG02145.hp2 HG02258.hp1 HG03139.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0002c0002t0002 a0003c0004t0001 a0001c0001t0002 a0002c0002t0002 a0003c0004t0001	a0001c0001t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 others(1): Show a0001c0001t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0003c0004t0001g0065	4	139	0.0288	22	c.191 others(37): Show c.191+567_191+588dupGTGTGTGTGTGTGTGTGTGTGT	SHISAL2B	ENSG00000145642.12	transcript	ENST00000389074.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHLD1_chr20_5745401_5869395	5817432	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	129	0.0078	22	c.178 others(41): Show c.178+44390_178+44391insCTCTCTCTCTCTCTGTGTGTGT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOC2_chr10_110914604_111018665	110940910	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	2	0.5000	22	c.-23 others(43): Show c.-235+21270_-235+21291dupTTTTTTTTTTTTTTTTTTTTTT	SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOC2_chr10_110914604_111018665	110981876	T T	TTATTTAT others(15): Show TTATTTATTTATTTATTATACTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG04228.hp2 HG02109.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0172 a0001c0001t0002g0174	2	168	0.0119	22	c.704 others(39): Show c.704-3750_704-3749insTTTATTTATTTATTATACTCTA	SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOX2_chr3_158090905_158111420	158106571	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01346.hp2 HG01496.hp2 others(6): Show HG00621.hp1 HG01346.hp2 HG01496.hp2 HG02145.hp1 HG02486.hp1 HG03041.hp1 NA18906.hp2 NA19006.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0074 others(3): Show a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0074 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0023g0064	9	69	0.1304	22	c.-56 others(31): Show c.-569_-548dupCTCTCTCTCTCTCTCTCTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		152		chr3	TogoVar
SHOX_chrX_625791_656584	648942	C C	CTTTTCTT others(15): Show CTTTTCTTTCTTTGTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(51): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02135.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02809.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03540.hp2 HG03834.hp2 HG04184.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18975.hp2 NA18981.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19077.hp1 NA19077.hp2 NA19089.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 others(39): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0134 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0172 a0001c0001t0174	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0021 others(50): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0015g0141 a0001c0001t0015g0205 a0001c0001t0016g0115 a0001c0001t0016g0204 a0001c0001t0017g0012 a0001c0001t0017g0197 a0001c0001t0030g0043 a0001c0001t0064g0053 a0001c0001t0065g0056 a0001c0001t0067g0041 a0001c0001t0068g0055 a0001c0001t0069g0202 a0001c0001t0070g0173 a0001c0001t0071g0137 a0001c0001t0072g0026 a0001c0001t0073g0101 a0001c0001t0074g0031 a0001c0001t0075g0050 a0001c0001t0076g0030 a0001c0001t0077g0178 a0001c0001t0078g0170 a0001c0001t0079g0103 a0001c0001t0080g0022 a0001c0001t0081g0175 a0001c0001t0082g0186 a0001c0001t0083g0150 a0001c0001t0084g0196 a0001c0001t0085g0009 a0001c0001t0086g0106 a0001c0001t0087g0044 a0001c0001t0088g0194 a0001c0001t0089g0099 a0001c0001t0090g0094 a0001c0001t0091g0129 a0001c0001t0092g0176 a0001c0001t0130g0018 a0001c0001t0131g0188 a0001c0001t0132g0034 a0001c0001t0134g0163 a0001c0001t0166g0070 a0001c0001t0167g0123 a0001c0001t0168g0066 a0001c0001t0172g0201 a0001c0001t0174g0128	54	211	0.2559	22	c.43 others(33): Show c.4318_*4319insGTTTCTTTCTTTTTCTTTCTTT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	4319	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHPRH_chr6_145879807_145969358	145967527	A A	AGCCTGGA others(15): Show AGCCTGGAACAATAGCCTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03041.hp1 HG03486.hp1 HG02145.hp2 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0253 a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0253	3	352	0.0085	22	c.-38 others(33): Show c.-3830_-3829insATTCCAGGCTATTGTTCCAGGC	SHPRH	ENSG00000146414.17	transcript	ENST00000275233.12	protein_coding		3170		chr6	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0211 a0003c0003t0001g0214 a0003c0003t0001g0211 a0003c0003t0001g0214	2	128	0.0156	22	c.118 others(39): Show c.1182-673_1182-672insTATATATATATATATATATACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751529	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0207 a0007c0007t0001g0208 a0007c0007t0001g0207 a0007c0007t0001g0208	2	207	0.0097	22	c.118 others(39): Show c.1182-694_1182-693insGTGTGTATATATATATATATAT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72825361	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0209	1	98	0.0102	22	c.600 others(37): Show c.600-832_600-811dupGTGTGTGTGTGTGTGTGTGTGT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	5/10			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9818975	C C	CTCACTGC others(15): Show CTCACTGCTGGATACGGAGCCAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	254	0.0039	22	c.165 others(41): Show c.165+32267_165+32288dupCACTGCTGGATACGGAGCCATT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar

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