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
SH3RF3_chr2_109124205_109509634	109486104	AACCTTTC others(3): Show AACCTTTCTTC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0045 a0001c0025t0045	a0001c0025t0045g0064 a0001c0025t0045g0064	1	172	0.0058	-10	c.214 others(29): Show c.2149-4495_2149-4486delTCTTCACCTT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109495477	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	172	0.0058	-10	c.248 others(29): Show c.2480+4564_2480+4573delTTTTTTTTTT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC1_chr4_8194290_8246103	8206832	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02257.hp1 others(4): Show HG01167.hp1 HG01891.hp1 HG02257.hp1 HG02647.hp2 HG03579.hp2 HG06807.hp2 NA19043.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0002 a0001c0038 a0007c0019 others(2): Show a0001c0002 a0001c0038 a0007c0019 a0007c0032 a0008c0086	a0001c0002t0001 a0001c0038t0003 a0007c0019t0001 others(2): Show a0001c0002t0001 a0001c0038t0003 a0007c0019t0001 a0007c0032t0001 a0008c0086t0001	a0001c0002t0001g0342 a0001c0002t0001g0358 a0001c0038t0003g0357 others(4): Show a0001c0002t0001g0342 a0001c0002t0001g0358 a0001c0038t0003g0357 a0001c0038t0003g0359 a0007c0019t0001g0360 a0007c0032t0001g0013 a0008c0086t0001g0361	7	374	0.0187	-10	c.172 others(27): Show c.172+1494_172+1503delTGTGTGTGTG	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8211302	CCCTCCTC others(3): Show CCCTCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0342 a0001c0002t0001g0342	1	374	0.0027	-10	c.248 others(27): Show c.248-1395_248-1386delCCTCCCTCCT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8221931	GTAAGCTA others(3): Show GTAAGCTACTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01257.hp2 others(9): Show HG00140.hp1 HG01106.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG02109.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02738.hp1 HG03239.hp1 HG03927.hp2	a0002 a0021 a0002 a0021	a0002c0004 a0002c0006 a0002c0012 others(2): Show a0002c0004 a0002c0006 a0002c0012 a0002c0014 a0021c0064	a0002c0004t0001 a0002c0006t0002 a0002c0012t0002 others(2): Show a0002c0004t0001 a0002c0006t0002 a0002c0012t0002 a0002c0014t0002 a0021c0064t0001	a0002c0004t0001g0010 a0002c0004t0001g0037 a0002c0004t0001g0041 others(9): Show a0002c0004t0001g0010 a0002c0004t0001g0037 a0002c0004t0001g0041 a0002c0004t0001g0070 a0002c0004t0001g0238 a0002c0004t0001g0297 a0002c0004t0001g0319 a0002c0006t0002g0169 a0002c0012t0002g0073 a0002c0012t0002g0321 a0002c0014t0002g0207 a0021c0064t0001g0298	12	374	0.0321	-10	c.111 others(27): Show c.1113-904_1113-895delCTACTCTAAG	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8239471	TGCACACA others(3): Show TGCACACATAG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0049 a0004c0016t0001g0049	1	374	0.0027	-10	c.375 others(29): Show c.3754-1219_3754-1210delTAGGCACACA	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC2_chr5_148977150_149068062	149025222	CCTCCCTG others(3): Show CCTCCCTGGGA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0134 a0001c0002t0056g0134	1	326	0.0031	-10	c.305 others(29): Show c.3053+1340_3053+1349delTCCCAGGGAG	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SH3YL1_chr2_213144_269032	238259	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01175.hp2 others(10): Show HG00558.hp2 HG00597.hp2 HG01175.hp2 HG01516.hp1 HG02080.hp1 HG02922.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18998.hp2 NA19000.hp2 NA19086.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0133 a0001c0001t0001g0147 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0189	13	360	0.0361	-10	c.292 others(27): Show c.292-3997_292-3988delCACACACACA	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	246592	GGAAAGGG others(3): Show GGAAAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0253 a0001c0001t0008g0253	1	360	0.0028	-10	c.291 others(25): Show c.291+936_291+945delTTCCCCTTTC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SHANK1_chr19_50654255_50724802	50694019	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0077 a0001c0018t0077	a0001c0018t0077g0123 a0001c0018t0077g0123	1	316	0.0032	-10	c.196 others(29): Show c.1964+3067_1964+3076delTGTGTGTGTG	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707876	TTTTTCTT others(3): Show TTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp1 others(20): Show HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG01167.hp2 HG01884.hp2 HG02027.hp2 HG02135.hp1 HG02523.hp2 HG02647.hp1 HG03017.hp1 HG03239.hp1 HG03486.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 NA18960.hp1 NA18964.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0018	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0001c0011 a0001c0038 a0002c0001 a0002c0008 a0003c0006 a0018c0037	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(18): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0021 a0001c0002t0091 a0001c0003t0023 a0001c0003t0035 a0001c0009t0007 a0001c0011t0001 a0001c0038t0094 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0008 a0002c0001t0061 a0002c0001t0098 a0002c0001t0106 a0002c0008t0003 a0002c0008t0067 a0003c0006t0045 a0018c0037t0005	a0001c0002t0001g0118 a0001c0002t0003g0276 a0001c0002t0005g0116 others(20): Show a0001c0002t0001g0118 a0001c0002t0003g0276 a0001c0002t0005g0116 a0001c0002t0005g0161 a0001c0002t0021g0021 a0001c0002t0091g0115 a0001c0003t0023g0240 a0001c0003t0035g0003 a0001c0009t0007g0251 a0001c0009t0007g0270 a0001c0011t0001g0052 a0001c0038t0094g0287 a0002c0001t0001g0137 a0002c0001t0002g0159 a0002c0001t0003g0160 a0002c0001t0008g0055 a0002c0001t0061g0039 a0002c0001t0098g0299 a0002c0001t0106g0311 a0002c0008t0003g0205 a0002c0008t0067g0046 a0003c0006t0045g0007 a0018c0037t0005g0120	23	316	0.0728	-10	c.107 others(29): Show c.1078-3372_1078-3363delGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHBG_chr17_7625135_7638372	7629375	CTAAAATA others(3): Show CTAAAATAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(120): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0010 others(1): Show a0001c0001 a0001c0004 a0001c0010 a0005c0005	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0004t0001g0001 a0001c0010t0001g0001 a0005c0005t0001g0001	123	432	0.2847	-10	c.-79 others(19): Show c.-797_-788delTAAAATAAAA	SHBG	ENSG00000129214.15	transcript	ENST00000380450.9	protein_coding		759		chr17	TogoVar
SHB_chr9_37910898_38074227	37920275	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00597.hp2 others(12): Show HG00099.hp1 HG00558.hp1 HG00597.hp2 HG01106.hp1 HG02258.hp1 HG02622.hp1 HG02735.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp2 HG03490.hp2 HG03704.hp1 HG03831.hp1 NA19057.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0001t0051 a0001c0001t0076 a0001c0002t0001 a0001c0002t0062 a0001c0003t0028 a0001c0005t0009 a0001c0015t0021	a0001c0001t0001g0206 a0001c0001t0001g0250 a0001c0001t0002g0257 others(12): Show a0001c0001t0001g0206 a0001c0001t0001g0250 a0001c0001t0002g0257 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0027g0254 a0001c0001t0051g0251 a0001c0001t0076g0243 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0062g0128 a0001c0003t0028g0168 a0001c0005t0009g0040 a0001c0015t0021g0192 a0001c0015t0021g0193	15	330	0.0455	-10	c.134 others(27): Show c.1347-281_1347-272delGTTTTGTTTT	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	5/5			chr9	TogoVar
SHB_chr9_37910898_38074227	37920326	AAAACAAA others(3): Show AAAACAAAACT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0235 a0001c0001t0049g0235	1	330	0.0030	-10	c.134 others(27): Show c.1347-332_1347-323delAGTTTTGTTT	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	5/5			chr9	TogoVar
SHB_chr9_37910898_38074227	38071349	TGTGAGAG others(3): Show TGTGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01496.hp1 others(4): Show HG00639.hp1 HG01074.hp1 HG01496.hp1 HG01496.hp2 HG02145.hp2 HG03239.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0024 a0001c0002 a0001c0007 a0001c0024	a0001c0002t0003 a0001c0002t0058 a0001c0007t0003 others(1): Show a0001c0002t0003 a0001c0002t0058 a0001c0007t0003 a0001c0024t0002	a0001c0002t0003g0002 a0001c0002t0003g0161 a0001c0002t0003g0162 others(3): Show a0001c0002t0003g0002 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0058g0176 a0001c0007t0003g0253 a0001c0024t0002g0186	7	330	0.0212	-10	c.-27 others(21): Show c.-2714_-2705delTCTCTCTCAC	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding		2123		chr9	TogoVar
SHB_chr9_37910898_38074227	38071351	TGAGAGAG others(3): Show TGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01081.hp1 others(4): Show HG00099.hp2 HG00738.hp2 HG01081.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0002t0006 a0001c0001t0002 a0001c0002t0005 a0001c0002t0006	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0299 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0299 a0001c0002t0005g0083 a0001c0002t0006g0129 a0001c0002t0006g0130	7	330	0.0212	-10	c.-27 others(21): Show c.-2716_-2707delTCTCTCTCTC	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding		2125		chr9	TogoVar
SHC2_chr19_411589_466033	430807	ACCCCCAG others(3): Show ACCCCCAGTCT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	212	0.0047	-10	c.111 others(25): Show c.1111-70_1111-61delAGACTGGGGG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	434082	GATGGCGC others(3): Show GATGGCGCTTC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	212	0.0047	-10	c.111 others(27): Show c.1110+617_1110+626delGAAGCGCCAT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC3_chr9_89000771_89183818	89035851	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp2 HG03041.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0015 a0001c0001t0001 a0001c0007t0015	a0001c0001t0001g0062 a0001c0007t0015g0176 a0001c0001t0001g0062 a0001c0007t0015g0176	2	188	0.0106	-10	c.165 others(29): Show c.1656+2132_1656+2141delCACACACACA	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	11/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89049261	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG01496.hp2 others(1): Show HG00099.hp2 HG01175.hp2 HG01496.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0005g0124	4	188	0.0213	-10	c.963 others(27): Show c.963-2277_963-2268delGTTTTGTTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	7/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89182522	AAAAATAA others(3): Show AAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01891.hp2 HG02280.hp2 others(21): Show HG00741.hp2 HG01891.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03654.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18961.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0030 a0001c0001t0035 a0001c0002t0003 a0001c0004t0010 a0001c0009t0027	a0001c0001t0001g0072 a0001c0001t0002g0004 a0001c0001t0002g0044 others(20): Show a0001c0001t0001g0072 a0001c0001t0002g0004 a0001c0001t0002g0044 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0003g0045 a0001c0001t0003g0090 a0001c0001t0003g0104 a0001c0001t0003g0120 a0001c0001t0007g0150 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0013g0093 a0001c0001t0013g0105 a0001c0001t0017g0076 a0001c0001t0030g0122 a0001c0001t0035g0092 a0001c0002t0003g0052 a0001c0002t0003g0091 a0001c0004t0010g0180 a0001c0004t0010g0182 a0001c0009t0027g0178	24	188	0.1277	-10	c.-40 others(21): Show c.-4072_-4063delATTTTATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding		3705		chr9	TogoVar
SHC4_chr15_48818741_48968919	48880983	AGAGTGTG others(3): Show AGAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	384	0.0026	-10	c.840 others(27): Show c.840+3255_840+3264delACACACACTC	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	4/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48880985	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG01099.hp2 others(29): Show HG00140.hp2 HG00621.hp1 HG01099.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02055.hp2 HG02165.hp2 HG02897.hp1 HG02965.hp1 HG03017.hp2 HG03927.hp1 HG04228.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18979.hp1 NA18987.hp2 NA18992.hp2 NA19001.hp2 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19085.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0006c0009 a0001c0001 a0001c0006 a0006c0009	a0001c0001t0001 a0001c0006t0001 a0006c0009t0001 a0001c0001t0001 a0001c0006t0001 a0006c0009t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 others(29): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0347 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0006t0001g0228 a0001c0006t0001g0318 a0006c0009t0001g0103	32	384	0.0833	-10	c.840 others(27): Show c.840+3253_840+3262delACACACACAC	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	4/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48916271	GCTCACAC others(3): Show GCTCACACACA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	384	0.0026	-10	c.656 others(27): Show c.656+8598_656+8607delTGTGTGTGAG	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48916273	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01257.hp2 NA18961.hp1 others(4): Show HG00140.hp2 HG01257.hp2 NA18961.hp1 NA18987.hp2 NA18999.hp2 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0146 a0001c0001t0001g0181 a0001c0001t0001g0308 others(4): Show a0001c0001t0001g0146 a0001c0001t0001g0181 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0001g0369 a0001c0002t0004g0248	7	384	0.0182	-10	c.656 others(27): Show c.656+8596_656+8605delTGTGTGTGTG	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48917243	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(17): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG01106.hp1 HG01433.hp1 HG01943.hp2 HG01993.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp1 NA19086.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0004	a0001c0001t0001g0023 a0001c0001t0001g0159 a0001c0001t0001g0179 others(17): Show a0001c0001t0001g0023 a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0237 a0001c0001t0001g0343 a0001c0001t0001g0347 a0001c0001t0002g0049 a0001c0001t0002g0085 a0001c0001t0002g0245 a0001c0001t0005g0036 a0001c0001t0005g0113 a0001c0001t0005g0260 a0001c0001t0005g0266 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0088 a0001c0001t0006g0195 a0001c0001t0012g0017 a0001c0002t0004g0157	20	384	0.0521	-10	c.656 others(27): Show c.656+7626_656+7635delCACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48917431	CTCTCTTC others(3): Show CTCTCTTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	384	0.0026	-10	c.656 others(27): Show c.656+7438_656+7447delAGGGAAGAGA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924778	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18962.hp2 HG01106.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0021 a0002c0002t0001g0026	2	302	0.0066	-10	c.118 others(29): Show c.1182+4859_1182+4868delCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(3): Show CTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02258.hp1 others(4): Show HG01070.hp1 HG01071.hp2 HG02258.hp1 HG02486.hp1 NA18965.hp2 NA18980.hp2 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0080 a0001c0001t0001g0166 a0001c0001t0001g0172 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0275 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0015	7	302	0.0232	-10	c.118 others(29): Show c.1182+2587_1182+2596delTATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930547	GTGTGTAT others(3): Show GTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03540.hp1 NA21309.hp1 HG01069.hp2 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0065 a0001c0003t0001g0070 a0001c0003t0001g0071	3	302	0.0099	-10	c.107 others(27): Show c.1077-805_1077-796delTATATACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930551	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01109.hp2 others(38): Show HG00735.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01981.hp2 HG02004.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02818.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp1 NA18948.hp2 NA18955.hp1 NA18962.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18999.hp2 NA19043.hp2 NA19063.hp2 NA19065.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 others(38): Show a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0290 a0004c0004t0001g0124 a0004c0004t0001g0127 a0004c0004t0001g0141 a0004c0004t0001g0152	41	302	0.1358	-10	c.107 others(27): Show c.1077-809_1077-800delTATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930653	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20300.hp1 HG01884.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0238 a0001c0003t0001g0072 a0001c0001t0001g0238 a0001c0003t0001g0072	2	302	0.0066	-10	c.107 others(27): Show c.1077-911_1077-902delCACACACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930695	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	302	0.0033	-10	c.107 others(27): Show c.1077-953_1077-944delTACACACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952185	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19085.hp1 HG02080.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0106 a0001c0001t0001g0107	2	302	0.0066	-10	c.405 others(25): Show c.405+534_405+543delATATTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952187	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	302	0.0033	-10	c.405 others(25): Show c.405+532_405+541delATATATTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952189	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02300.hp2 HG03704.hp2 others(4): Show HG02004.hp1 HG02300.hp2 HG03704.hp2 NA18948.hp1 NA18981.hp1 NA18991.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0210 others(4): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0004c0004t0001g0120 a0004c0004t0001g0123	7	302	0.0232	-10	c.405 others(25): Show c.405+530_405+539delATATATATTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952191	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp1 HG01258.hp1 others(5): Show HG00323.hp2 HG01257.hp1 HG01258.hp1 HG02300.hp1 HG02523.hp1 HG03669.hp2 NA18971.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 others(5): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0237	8	302	0.0265	-10	c.405 others(25): Show c.405+528_405+537delATATATATAT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952227	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03017.hp1 HG03098.hp2 HG00099.hp1 HG03017.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137	3	302	0.0099	-10	c.405 others(25): Show c.405+492_405+501delGTATATATAT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0083 a0001c0001t0001g0084	2	184	0.0109	-10	c.597 others(27): Show c.597-2165_597-2156delAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHE_chr1_154474481_154507412	154501332	AACCTATC others(3): Show AACCTATCCTC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0065 a0001c0002t0003g0065	1	382	0.0026	-10	c.591 others(24): Show c.591+94_591+103delGAGGATAGGT	SHE	ENSG00000169291.10	transcript	ENST00000304760.3	protein_coding	1/5			chr1	TogoVar
SHFL_chr19_10081317_10098243	10081739	AGGAGGAG others(3): Show AGGAGGAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG01255.hp1 others(5): Show HG00741.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01433.hp1 HG04199.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0001g0116 a0001c0001t0001g0141	8	444	0.0180	-10	c.-46 others(21): Show c.-4688_-4679delGGAGGAGGAG	SHFL	ENSG00000130813.18	transcript	ENST00000253110.16	protein_coding		4577		chr19	TogoVar
SHF_chr15_45162214_45192966	45192358	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	3	398	0.0075	-10	c.-44 others(21): Show c.-4417_-4408delAAAAAAAAAA	SHF	ENSG00000138606.20	transcript	ENST00000690270.1	protein_coding		4393		chr15	TogoVar
SHH_chr7_155794980_155817463	155816392	AAGCCCCG others(3): Show AAGCCCCGTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(267): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0076 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0096 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0004t0011 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0086 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(140): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0002 a0001c0001t0002g0038 a0001c0001t0002g0121 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0153 a0001c0001t0002g0208 a0001c0001t0002g0221 a0001c0001t0003g0004 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0128 a0001c0001t0003g0148 a0001c0001t0003g0154 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0191 a0001c0001t0003g0202 a0001c0001t0003g0238 a0001c0001t0004g0005 a0001c0001t0004g0039 a0001c0001t0004g0093 a0001c0001t0004g0209 a0001c0001t0004g0230 a0001c0001t0005g0007 a0001c0001t0005g0037 a0001c0001t0005g0152 a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0005g0207 a0001c0001t0006g0031 a0001c0001t0006g0156 a0001c0001t0006g0194 a0001c0001t0006g0241 a0001c0001t0007g0009 a0001c0001t0007g0188 a0001c0001t0007g0197 a0001c0001t0008g0017 a0001c0001t0008g0111 a0001c0001t0008g0155 a0001c0001t0008g0190 a0001c0001t0008g0233 a0001c0001t0009g0151 a0001c0001t0010g0006 a0001c0001t0010g0210 a0001c0001t0011g0020 a0001c0001t0011g0201 a0001c0001t0011g0226 a0001c0001t0011g0229 a0001c0001t0012g0008 a0001c0001t0012g0187 a0001c0001t0013g0013 a0001c0001t0013g0043 a0001c0001t0013g0085 a0001c0001t0014g0034 a0001c0001t0014g0146 a0001c0001t0014g0206 a0001c0001t0014g0218 a0001c0001t0015g0026 a0001c0001t0016g0147 a0001c0001t0016g0215 a0001c0001t0016g0217 a0001c0001t0017g0015 a0001c0001t0017g0216 a0001c0001t0018g0112 a0001c0001t0019g0044 a0001c0001t0020g0118 a0001c0001t0021g0016 a0001c0001t0021g0189 a0001c0001t0022g0025 a0001c0001t0023g0122 a0001c0001t0023g0139 a0001c0001t0023g0169 a0001c0001t0024g0171 a0001c0001t0025g0018 a0001c0001t0026g0021 a0001c0001t0030g0065 a0001c0001t0035g0079 a0001c0001t0035g0219 a0001c0001t0037g0227 a0001c0001t0037g0236 a0001c0001t0038g0108 a0001c0001t0038g0177 a0001c0001t0039g0228 a0001c0001t0041g0035 a0001c0001t0046g0053 a0001c0001t0051g0061 a0001c0001t0052g0062 a0001c0001t0061g0161 a0001c0001t0062g0162 a0001c0001t0063g0195 a0001c0001t0066g0095 a0001c0001t0070g0239 a0001c0001t0071g0127 a0001c0001t0072g0110 a0001c0001t0076g0237 a0001c0001t0081g0092 a0001c0001t0082g0165 a0001c0001t0084g0220 a0001c0001t0085g0166 a0001c0001t0087g0073 a0001c0001t0088g0168 a0001c0001t0090g0170 a0001c0001t0091g0183 a0001c0001t0092g0124 a0001c0001t0096g0222 a0001c0001t0100g0172 a0001c0001t0101g0080 a0001c0001t0102g0173 a0001c0001t0103g0174 a0001c0001t0104g0175 a0001c0001t0105g0211 a0001c0001t0106g0212 a0001c0001t0107g0213 a0001c0001t0108g0176 a0001c0001t0109g0247 a0001c0004t0011g0131 a0002c0002t0001g0182 a0002c0002t0004g0033 a0002c0002t0005g0160 a0002c0002t0086g0159 a0003c0007t0001g0180	270	414	0.6522	-10	c.-42 others(21): Show c.-4280_-4271delCCACGGGGCT	SHH	ENSG00000164690.8	transcript	ENST00000297261.7	protein_coding		3930		chr7	TogoVar
SHH_chr7_155794980_155817463	155816425	CCCCGTGG others(3): Show CCCCGTGGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	414	0.0024	-10	c.-43 others(21): Show c.-4313_-4304delTCTCCACGGG	SHH	ENSG00000164690.8	transcript	ENST00000297261.7	protein_coding		3963		chr7	TogoVar
SHISA2_chr13_26039597_26057016	26049863	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 NA19030.hp2 others(1): Show HG01496.hp2 HG01891.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0086 a0001c0003t0014 a0001c0003t0086	a0001c0003t0014g0036 a0001c0003t0086g0251 a0001c0003t0014g0036 a0001c0003t0086g0251	4	456	0.0088	-10	c.334 others(25): Show c.334+769_334+778delGTGTGTGTGT	SHISA2	ENSG00000180730.5	transcript	ENST00000319420.4	protein_coding	1/1			chr13	TogoVar
SHISA4_chr1_201883898_201897587	201884995	CATGGAAG others(3): Show CATGGAAGAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	418	0.0024	-10	c.-39 others(21): Show c.-3999_-3990delATGGAAGAGT	SHISA4	ENSG00000198892.7	transcript	ENST00000362011.7	protein_coding		3902		chr1	TogoVar
SHISA4_chr1_201883898_201897587	201886820	TCCCAGTG others(3): Show TCCCAGTGCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	-10	c.-21 others(21): Show c.-2174_-2165delCCCAGTGCAG	SHISA4	ENSG00000198892.7	transcript	ENST00000362011.7	protein_coding		2077		chr1	TogoVar
SHISA5_chr3_48462876_48509174	48492150	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02027.hp2 HG02071.hp1 others(10): Show HG01884.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02622.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 NA18954.hp1 NA18969.hp2 NA19003.hp2 NA19076.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(10): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0004g0014	13	290	0.0448	-10	c.233 others(27): Show c.233+8977_233+8986delTTTTTTTTTT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48504239	AGGAGGAG others(3): Show AGGAGGAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00099.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0158 a0001c0001t0009g0157 a0001c0001t0001g0158 a0001c0001t0009g0157	2	290	0.0069	-10	c.-15 others(19): Show c.-155_-146delCTCCTCCTCC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding		66		chr3	TogoVar
SHISA6_chr17_11236213_11569063	11237511	GAGAAGAA others(3): Show GAGAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02055.hp1 others(5): Show HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02165.hp1 HG02622.hp1 HG02647.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0002 a0001c0003t0002 a0001c0003t0007 others(5): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0007 a0001c0003t0011 a0001c0003t0012 a0001c0003t0015 a0001c0003t0036 a0001c0012t0017	a0001c0001t0002g0158 a0001c0003t0002g0107 a0001c0003t0007g0106 others(5): Show a0001c0001t0002g0158 a0001c0003t0002g0107 a0001c0003t0007g0106 a0001c0003t0011g0076 a0001c0003t0012g0109 a0001c0003t0015g0123 a0001c0003t0036g0075 a0001c0012t0017g0183	8	192	0.0417	-10	c.-39 others(21): Show c.-3911_-3902delAGAAGAAAGA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding		3701		chr17	TogoVar

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