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
SHC3_chr9_89000771_89183818	89027327	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0030 a0001c0001t0007g0030	1	95	0.0105	15	c.165 others(36): Show c.1656+10665_1656+10666insAAAAAAAAAAAAAAA	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	11/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89182522	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	41	0.0244	15	c.-40 others(26): Show c.-4063_-4062insATTTTATTTTATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding		3705		chr9	TogoVar
SHCBP1L_chr1_182894865_182958166	182898862	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG03017.hp2 others(2): Show HG01891.hp2 HG02258.hp1 HG03017.hp2 NA18973.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0100 a0001c0001t0001g0103 a0002c0002t0001g0003 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0103 a0002c0002t0001g0003 a0002c0002t0001g0028 a0002c0002t0001g0034	5	207	0.0242	15	c.11 others(26): Show c.1120_*1121insTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1002		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182898862	C C	CCAAAAAA others(8): Show CCAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	203	0.0049	15	c.11 others(26): Show c.1120_*1121insTTTTTTTTTTTTTTG	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1002		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924675	A A	AGAAAGGA others(8): Show AGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0296 a0006c0007t0001g0296	1	276	0.0036	15	c.118 others(34): Show c.1182+4957_1182+4971dupCTTTCCTTTCCTTTC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924695	G G	GGAAGAAA others(8): Show GGAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	291	0.0034	15	c.118 others(34): Show c.1182+4951_1182+4952insTTTCTTTCTTTCTTC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924975	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	285	0.0035	15	c.118 others(34): Show c.1182+4671_1182+4672insCTTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46592951	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	2	0.5000	15	c.146 others(34): Show c.1464+2586_1464+2600dupTTTTTTTTTTTTTTT	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	10/12			chr16	TogoVar
SHCBP1_chr16_46573591_46626379	46599669	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0141 a0001c0001t0005g0141	1	178	0.0056	15	c.134 others(32): Show c.1345+147_1345+161dupTTTTTTTTTTTTTTT	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	9/12			chr16	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01074.hp1 others(8): Show HG00099.hp1 HG00735.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp1 HG02258.hp2 HG02723.hp1 HG02886.hp2 HG03834.hp2 NA18612.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0054 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0001g0123	11	25	0.4400	15	c.597 others(32): Show c.597-2170_597-2156dupAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHH_chr7_155794980_155817463	155795293	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0137 a0001c0001t0016g0137	1	53	0.0189	15	c.76 others(26): Show c.7606_*7607insAAAAAAAAAAAAAAA	SHH	ENSG00000164690.8	transcript	ENST00000297261.7	protein_coding		4686		chr7	TogoVar
SHISA6_chr17_11236213_11569063	11237575	G G	GGAAGAAG others(8): Show GGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01515.hp1 others(14): Show HG00099.hp2 HG00639.hp2 HG01515.hp1 HG02273.hp1 HG02273.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA18989.hp1 NA18989.hp2 NA19043.hp1 NA19056.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0006 a0001c0002t0011 a0001c0002t0041 a0001c0008t0017 a0001c0009t0048 a0004c0007t0039	a0001c0001t0001g0025 a0001c0001t0001g0088 a0001c0001t0002g0079 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0088 a0001c0001t0002g0079 a0001c0001t0002g0164 a0001c0001t0003g0044 a0001c0001t0003g0127 a0001c0001t0003g0153 a0001c0001t0004g0032 a0001c0001t0004g0067 a0001c0001t0008g0049 a0001c0002t0001g0140 a0001c0002t0006g0097 a0001c0002t0011g0192 a0001c0002t0041g0178 a0001c0008t0017g0066 a0001c0009t0048g0188 a0004c0007t0039g0107	17	41	0.4146	15	c.-38 others(26): Show c.-3848_-3847insGAAGAAGAAGAAGAA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding		3637		chr17	TogoVar
SHISA6_chr17_11236213_11569063	11237614	A A	AGAAGAAG others(8): Show AGAAGAAGAAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0143 a0001c0001t0028g0143	1	182	0.0055	15	c.-38 others(26): Show c.-3809_-3808insGAAGAAGAAGAAGAG	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding		3598		chr17	TogoVar
SHISA6_chr17_11236213_11569063	11323669	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02055.hp1 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0002 a0001c0012t0017 a0001c0003t0002 a0001c0012t0017	a0001c0003t0002g0105 a0001c0012t0017g0183 a0001c0003t0002g0105 a0001c0012t0017g0183	2	129	0.0155	15	c.800 others(34): Show c.800-55728_800-55714dupATAATAATAATAATA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11350174	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG02280.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0013 a0001c0001t0015	a0001c0001t0013g0120 a0001c0001t0015g0084 a0001c0001t0013g0120 a0001c0001t0015g0084	2	186	0.0108	15	c.800 others(34): Show c.800-29237_800-29236insTTTTTTTTTTTTTTT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11350178	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03471.hp1 HG02451.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0049 a0001c0001t0015g0083 a0001c0001t0008g0049 a0001c0001t0015g0083	2	166	0.0120	15	c.800 others(34): Show c.800-29233_800-29232insTTTTTTTTTTTTTTT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11499684	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19043.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0088 a0001c0001t0009g0131 a0001c0001t0001g0088 a0001c0001t0009g0131	2	190	0.0105	15	c.896 others(34): Show c.896-52210_896-52209insCTTTCTTTCTTTCTT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	13003889	T T	TAAGAAGA others(8): Show TAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0046 a0001c0001t0059g0046	1	75	0.0133	15	c.691 others(34): Show c.691+87081_691+87095dupAAGAAGAAGAAGAAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13003889	T T	TAATAATA others(8): Show TAATAATAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	75	0.0133	15	c.691 others(34): Show c.691+87076_691+87077insTAATAAGAAGAAGAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015907	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03710.hp2 HG02165.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0043 a0001c0001t0008 a0001c0001t0043	a0001c0001t0008g0129 a0001c0001t0043g0030 a0001c0001t0008g0129 a0001c0001t0043g0030	2	212	0.0094	15	c.691 others(34): Show c.691+99094_691+99095insCTTTCTTTCTTTCTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019428	T T	TTTCCTCA others(8): Show TTTCCTCAGTGGAGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0189 a0001c0001t0007g0189	1	214	0.0047	15	c.691 others(36): Show c.691+102624_691+102625insAGAGTTCCTCAGTGG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13140085	T T	TCTTCCCG others(8): Show TCTTCCCGTCCCTTCC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	82	0.0122	15	c.692 others(34): Show c.692-63303_692-63302insGTCCCTTCCCTTCCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13140085	T T	TCTTCCCT others(8): Show TCTTCCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01993.hp2 HG03654.hp1 others(3): Show HG01261.hp1 HG01993.hp2 HG03654.hp1 HG04204.hp2 NA18971.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0032 a0001c0001t0071 a0001c0001t0074	a0001c0001t0001g0090 a0001c0001t0006g0083 a0001c0001t0009g0063 others(3): Show a0001c0001t0001g0090 a0001c0001t0006g0083 a0001c0001t0009g0063 a0001c0001t0032g0062 a0001c0001t0071g0007 a0001c0001t0074g0068	6	87	0.0690	15	c.692 others(34): Show c.692-63266_692-63252dupTCCCTTCCCTTCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13140138	T T	TCCCTTCC others(8): Show TCCCTTCCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0210 a0001c0001t0016g0210	1	134	0.0075	15	c.692 others(34): Show c.692-63252_692-63251insTCCCTTCCCTCCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13142989	C C	CTTTTATT others(8): Show CTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp1 HG02109.hp2 others(24): Show HG01074.hp1 HG01433.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18952.hp1 NA18967.hp2 NA18970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0006	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(20): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0056 a0001c0001t0065 a0001c0001t0080 a0001c0001t0088 a0001c0001t0093 a0001c0002t0062 a0001c0003t0069 a0004c0006t0019	a0001c0001t0003g0180 a0001c0001t0003g0204 a0001c0001t0005g0035 others(24): Show a0001c0001t0003g0180 a0001c0001t0003g0204 a0001c0001t0005g0035 a0001c0001t0005g0049 a0001c0001t0008g0077 a0001c0001t0008g0111 a0001c0001t0009g0214 a0001c0001t0012g0078 a0001c0001t0013g0016 a0001c0001t0013g0122 a0001c0001t0015g0197 a0001c0001t0017g0193 a0001c0001t0020g0047 a0001c0001t0023g0119 a0001c0001t0024g0038 a0001c0001t0039g0158 a0001c0001t0050g0043 a0001c0001t0051g0025 a0001c0001t0053g0051 a0001c0001t0056g0056 a0001c0001t0065g0052 a0001c0001t0080g0055 a0001c0001t0088g0018 a0001c0001t0093g0102 a0001c0002t0062g0182 a0001c0003t0069g0172 a0004c0006t0019g0023	27	100	0.2700	15	c.692 others(34): Show c.692-60384_692-60370dupTTTTATTTTATTTTA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13187310	C C	CTTCTTTT others(8): Show CTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp1 HG03471.hp1 HG02630.hp2 HG03453.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0063 a0001c0001t0004 a0001c0001t0006 a0001c0001t0063	a0001c0001t0004g0079 a0001c0001t0006g0080 a0001c0001t0063g0138 a0001c0001t0004g0079 a0001c0001t0006g0080 a0001c0001t0063g0138	3	195	0.0154	15	c.692 others(34): Show c.692-16076_692-16062dupCTTTTCTTTTCTTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13200409	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	154	0.0065	15	c.692 others(32): Show c.692-2985_692-2984insCACACACACACACAC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4			chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44277449	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00733.hp1 others(49): Show HG00099.hp2 HG00140.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG02145.hp2 HG02165.hp2 HG02451.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18946.hp1 NA18978.hp2 NA19080.hp2 NA19086.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0050 others(17): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0028 a0001c0002t0040 a0001c0002t0053 a0001c0002t0059 a0001c0002t0065 a0001c0002t0074 a0001c0002t0077 a0001c0002t0078 a0001c0002t0095 a0001c0002t0096	a0001c0001t0003g0095 a0001c0001t0003g0149 a0001c0001t0004g0310 others(46): Show a0001c0001t0003g0095 a0001c0001t0003g0149 a0001c0001t0004g0310 a0001c0001t0050g0320 a0001c0002t0001g0314 a0001c0002t0002g0009 a0001c0002t0002g0105 a0001c0002t0002g0160 a0001c0002t0002g0193 a0001c0002t0002g0281 a0001c0002t0002g0344 a0001c0002t0002g0364 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0066 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0097 a0001c0002t0003g0102 a0001c0002t0003g0112 a0001c0002t0003g0187 a0001c0002t0003g0206 a0001c0002t0003g0218 a0001c0002t0003g0239 a0001c0002t0003g0249 a0001c0002t0003g0321 a0001c0002t0003g0340 a0001c0002t0003g0341 a0001c0002t0003g0345 a0001c0002t0004g0061 a0001c0002t0007g0016 a0001c0002t0007g0042 a0001c0002t0007g0054 a0001c0002t0008g0091 a0001c0002t0008g0106 a0001c0002t0008g0312 a0001c0002t0008g0361 a0001c0002t0012g0038 a0001c0002t0028g0240 a0001c0002t0028g0324 a0001c0002t0040g0034 a0001c0002t0053g0088 a0001c0002t0059g0152 a0001c0002t0065g0247 a0001c0002t0074g0179 a0001c0002t0077g0339 a0001c0002t0078g0246 a0001c0002t0095g0195 a0001c0002t0096g0194	52	293	0.1775	15	c.599 others(32): Show c.599+7964_599+7978dupTGTTTTGTTTTGTTT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44290537	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02922.hp1 others(2): Show HG02258.hp2 HG02559.hp1 HG02922.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0041 a0001c0001t0042 others(1): Show a0001c0001t0011 a0001c0001t0041 a0001c0001t0042 a0001c0001t0081	a0001c0001t0011g0242 a0001c0001t0011g0318 a0001c0001t0041g0020 others(2): Show a0001c0001t0011g0242 a0001c0001t0011g0318 a0001c0001t0041g0020 a0001c0001t0042g0029 a0001c0001t0081g0059	5	375	0.0133	15	c.282 others(32): Show c.282-4793_282-4792insGTTTTTTTTTTTTTT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	3/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5775923	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG01069.hp2 others(25): Show HG00099.hp1 HG00408.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01257.hp1 HG01358.hp1 HG01496.hp2 HG02056.hp1 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03834.hp2 NA18747.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18966.hp2 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0006 a0002c0007t0002	a0001c0001t0001g0279 a0001c0002t0002g0134 a0001c0002t0002g0135 others(25): Show a0001c0001t0001g0279 a0001c0002t0002g0134 a0001c0002t0002g0135 a0002c0003t0001g0016 a0002c0003t0001g0019 a0002c0003t0001g0046 a0002c0003t0001g0097 a0002c0003t0001g0180 a0002c0003t0001g0190 a0002c0003t0001g0288 a0002c0003t0001g0293 a0002c0003t0001g0295 a0002c0003t0003g0096 a0002c0003t0003g0102 a0002c0003t0003g0140 a0002c0003t0003g0171 a0002c0003t0004g0186 a0002c0003t0004g0267 a0002c0004t0001g0138 a0002c0004t0001g0292 a0002c0004t0002g0027 a0002c0004t0002g0041 a0002c0004t0002g0142 a0002c0004t0002g0222 a0002c0004t0002g0244 a0002c0004t0002g0262 a0002c0004t0006g0009 a0002c0007t0002g0193	28	159	0.1761	15	c.178 others(32): Show c.178+2888_178+2902dupTTTTTTTTTTTTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5854872	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03225.hp1 HG01978.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0254 a0001c0002t0002g0310 a0001c0002t0002g0254 a0001c0002t0002g0310	2	5	0.4000	15	c.179 others(32): Show c.179-8140_179-8139insTTTTTTTTTTTTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD3_chr5_65620027_65635928	65624710	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0013 a0001c0003t0003g0013	1	214	0.0047	15	c.-51 others(24): Show c.-517_-516insTCTCTCTCTCTTTTT	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding		316		chr5	TogoVar
SHLD3_chr5_65620027_65635928	65627131	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01496.hp2 HG01975.hp2 others(7): Show HG00673.hp1 HG01496.hp2 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02683.hp2 HG03491.hp1 HG03942.hp1 HG04199.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0010 a0001c0001t0002g0021	10	139	0.0719	15	c.-12 others(34): Show c.-121+2037_-121+2051dupAAAAAAAAAAAAAAA	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHOX2_chr3_158090905_158111420	158096889	A A	ATATATAT others(8): Show ATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0022 a0001c0008t0022	a0001c0008t0022g0053 a0001c0008t0022g0053	1	128	0.0078	15	c.11 others(26): Show c.1137_*1138insATATATATATATATA	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1137		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106619	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	377	0.0027	15	c.-59 others(24): Show c.-596_-595insTCTCTCTCTCTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		200		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106620	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG02056.hp1 HG01928.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0004g0006 a0001c0001t0002g0001 a0001c0001t0004g0006	2	358	0.0056	15	c.-59 others(24): Show c.-597_-596insCTCTCTCTCTCTCTC	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		201		chr3	TogoVar
SHPK_chr17_3603240_3641250	3635245	G G	GGAAGGAA others(8): Show GGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0340 a0001c0001t0005g0340	1	379	0.0026	15	c.168 others(30): Show c.168+806_168+807insTTCCTTCCTTCCTTC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHPRH_chr6_145879807_145969358	145934473	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(130): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20905.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0012	a0001c0001 a0001c0003 a0001c0014 others(8): Show a0001c0001 a0001c0003 a0001c0014 a0001c0019 a0003c0005 a0005c0007 a0006c0008 a0007c0011 a0008c0010 a0009c0012 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0009 a0001c0014t0001 a0001c0019t0001 a0003c0005t0001 a0003c0005t0011 a0005c0007t0001 a0006c0008t0003 a0007c0011t0008 a0008c0010t0001 a0009c0012t0001 a0012c0017t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(101): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0002g0268 a0001c0001t0010g0079 a0001c0003t0009g0258 a0001c0014t0001g0156 a0001c0019t0001g0107 a0003c0005t0001g0003 a0003c0005t0001g0035 a0003c0005t0001g0116 a0003c0005t0001g0170 a0003c0005t0001g0171 a0003c0005t0001g0173 a0003c0005t0001g0174 a0003c0005t0001g0175 a0003c0005t0011g0176 a0005c0007t0001g0088 a0005c0007t0001g0089 a0005c0007t0001g0090 a0005c0007t0001g0091 a0006c0008t0003g0044 a0007c0011t0008g0031 a0008c0010t0001g0034 a0009c0012t0001g0092 a0012c0017t0001g0098	133	253	0.5257	15	c.299 others(32): Show c.2990+419_2990+433dupTATTTTATTTTATTT	SHPRH	ENSG00000146414.17	transcript	ENST00000275233.12	protein_coding	13/29			chr6	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	97	0.0103	15	c.118 others(36): Show c.1182-14722_1182-14721insAAATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	97	0.0103	15	c.118 others(36): Show c.1182-14722_1182-14721insAAAAAAAAATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852109	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	220	0.0045	15	c.-37 others(26): Show c.-3770_-3769insGAGAGAGAGAGAGAG	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3665		chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9785517	A A	AGCATCTA others(8): Show AGCATCTAGACGCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0002 a0002c0014t0002	a0002c0014t0002g0195 a0002c0014t0002g0195	1	254	0.0039	15	c.-10 others(26): Show c.-1029_-1028insGCATCTAGACGCAAC	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding		911		chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9786118	T T	TGAGCGCC others(8): Show TGAGCGCCCCTCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	254	0.0039	15	c.-42 others(24): Show c.-428_-427insGAGCGCCCCTCCCGG	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding		310		chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9787992	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG03209.hp1 others(3): Show HG02559.hp1 HG02886.hp2 HG03209.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0036 a0038	a0001c0007 a0002c0006 a0004c0016 others(3): Show a0001c0007 a0002c0006 a0004c0016 a0010c0054 a0036c0074 a0038c0031	a0001c0007t0001 a0002c0006t0003 a0004c0016t0011 others(3): Show a0001c0007t0001 a0002c0006t0003 a0004c0016t0011 a0010c0054t0002 a0036c0074t0003 a0038c0031t0001	a0001c0007t0001g0008 a0002c0006t0003g0005 a0004c0016t0011g0175 others(3): Show a0001c0007t0001g0008 a0002c0006t0003g0005 a0004c0016t0011g0175 a0010c0054t0002g0011 a0036c0074t0003g0176 a0038c0031t0001g0007	6	176	0.0341	15	c.165 others(32): Show c.165+1294_165+1295insTTTTTTTTTTTTTTT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9816580	C C	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(112): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04228.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0016 a0018 a0019 a0023 a0024 a0025 a0026 a0032 a0033 a0037 a0038 a0039 a0042	a0001c0001 a0001c0003 a0001c0007 others(38): Show a0001c0001 a0001c0003 a0001c0007 a0001c0012 a0001c0013 a0001c0048 a0001c0076 a0002c0002 a0002c0006 a0002c0010 a0002c0011 a0002c0014 a0002c0017 a0002c0026 a0002c0045 a0002c0047 a0002c0049 a0003c0004 a0003c0005 a0003c0008 a0003c0009 a0003c0068 a0004c0016 a0004c0024 a0006c0018 a0006c0040 a0007c0015 a0010c0054 a0016c0029 a0018c0030 a0019c0027 a0023c0059 a0024c0036 a0025c0072 a0026c0032 a0032c0056 a0033c0037 a0037c0044 a0038c0031 a0039c0066 a0042c0046	a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 others(50): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 a0001c0003t0013 a0001c0007t0001 a0001c0012t0001 a0001c0012t0017 a0001c0013t0001 a0001c0048t0001 a0001c0076t0001 a0002c0002t0002 a0002c0006t0002 a0002c0006t0005 a0002c0010t0003 a0002c0011t0002 a0002c0011t0005 a0002c0014t0002 a0002c0017t0002 a0002c0017t0007 a0002c0026t0002 a0002c0026t0007 a0002c0045t0002 a0002c0047t0002 a0002c0049t0002 a0003c0004t0003 a0003c0005t0003 a0003c0005t0004 a0003c0005t0020 a0003c0008t0003 a0003c0008t0004 a0003c0009t0003 a0003c0009t0004 a0003c0009t0009 a0003c0068t0009 a0004c0016t0002 a0004c0024t0007 a0006c0018t0006 a0006c0040t0003 a0007c0015t0003 a0010c0054t0002 a0016c0029t0007 a0018c0030t0001 a0019c0027t0002 a0023c0059t0001 a0024c0036t0002 a0025c0072t0002 a0026c0032t0021 a0032c0056t0008 a0033c0037t0014 a0037c0044t0002 a0038c0031t0001 a0039c0066t0019 a0042c0046t0003	a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0036 others(112): Show a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0254 a0001c0001t0015g0225 a0001c0003t0001g0003 a0001c0003t0001g0050 a0001c0003t0001g0056 a0001c0003t0001g0097 a0001c0003t0001g0148 a0001c0003t0001g0171 a0001c0003t0001g0186 a0001c0003t0001g0214 a0001c0003t0013g0102 a0001c0007t0001g0002 a0001c0007t0001g0110 a0001c0007t0001g0213 a0001c0012t0001g0040 a0001c0012t0001g0158 a0001c0012t0001g0163 a0001c0012t0017g0062 a0001c0013t0001g0074 a0001c0013t0001g0112 a0001c0013t0001g0182 a0001c0048t0001g0170 a0001c0076t0001g0083 a0002c0002t0002g0052 a0002c0002t0002g0057 a0002c0002t0002g0088 a0002c0002t0002g0091 a0002c0002t0002g0094 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0121 a0002c0002t0002g0127 a0002c0002t0002g0132 a0002c0002t0002g0141 a0002c0002t0002g0190 a0002c0002t0002g0221 a0002c0002t0002g0234 a0002c0002t0002g0256 a0002c0006t0002g0014 a0002c0006t0002g0090 a0002c0006t0002g0120 a0002c0006t0005g0017 a0002c0010t0003g0232 a0002c0011t0002g0101 a0002c0011t0005g0222 a0002c0014t0002g0105 a0002c0017t0002g0140 a0002c0017t0007g0009 a0002c0026t0002g0049 a0002c0026t0007g0015 a0002c0045t0002g0073 a0002c0047t0002g0156 a0002c0049t0002g0143 a0003c0004t0003g0077 a0003c0004t0003g0079 a0003c0004t0003g0116 a0003c0004t0003g0162 a0003c0004t0003g0166 a0003c0004t0003g0177 a0003c0005t0003g0092 a0003c0005t0003g0172 a0003c0005t0003g0173 a0003c0005t0004g0147 a0003c0005t0020g0099 a0003c0008t0003g0251 a0003c0008t0004g0210 a0003c0009t0003g0064 a0003c0009t0003g0068 a0003c0009t0004g0242 a0003c0009t0009g0069 a0003c0068t0009g0042 a0004c0016t0002g0018 a0004c0024t0007g0255 a0006c0018t0006g0027 a0006c0018t0006g0145 a0006c0040t0003g0247 a0007c0015t0003g0189 a0010c0054t0002g0011 a0016c0029t0007g0237 a0018c0030t0001g0025 a0019c0027t0002g0046 a0023c0059t0001g0157 a0024c0036t0002g0016 a0025c0072t0002g0236 a0026c0032t0021g0026 a0032c0056t0008g0138 a0033c0037t0014g0231 a0037c0044t0002g0209 a0038c0031t0001g0007 a0039c0066t0019g0184 a0042c0046t0003g0187	115	174	0.6609	15	c.165 others(34): Show c.165+29888_165+29902dupGCTGCTGCTGCTGCT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9822985	A A	ATTCTTCT others(8): Show ATTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0011 a0011	a0011c0071 a0011c0071	a0011c0071t0003 a0011c0071t0003	a0011c0071t0003g0202 a0011c0071t0003g0202	1	150	0.0067	15	c.165 others(34): Show c.165+36292_165+36306dupTCTTCTTCTTCTTCT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9875080	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03831.hp1 HG03831.hp2 others(1): Show HG00741.hp1 HG03831.hp1 HG03831.hp2 NA18942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0002 a0001c0001t0001 a0002c0006t0002	a0001c0001t0001g0070 a0001c0001t0001g0098 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0098 a0001c0001t0001g0240 a0002c0006t0002g0051	4	14	0.2857	15	c.317 others(32): Show c.317+1293_317+1307dupAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9950802	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0023 a0002c0014t0023	a0002c0014t0023g0201 a0002c0014t0023g0201	1	29	0.0345	15	c.38 others(26): Show c.3865_*3866insTTTTTTTTTTTTTTT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding		1360		chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76460827	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00621.hp1 others(63): Show HG00099.hp1 HG00099.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01243.hp2 HG01256.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02074.hp1 HG02074.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18962.hp1 NA18964.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19056.hp1 NA19063.hp1 NA19068.hp2 NA19082.hp1 NA19084.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0012 a0016 a0018 a0021 a0024 a0029 a0032	a0001c0001 a0001c0019 a0001c0035 others(18): Show a0001c0001 a0001c0019 a0001c0035 a0002c0003 a0002c0043 a0002c0045 a0003c0002 a0004c0004 a0005c0011 a0005c0013 a0005c0021 a0007c0006 a0008c0007 a0009c0009 a0012c0010 a0016c0032 a0018c0050 a0021c0034 a0024c0027 a0029c0042 a0032c0051	a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(29): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0019t0001 a0001c0035t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0003t0029 a0002c0003t0030 a0002c0043t0001 a0002c0045t0001 a0003c0002t0001 a0003c0002t0003 a0003c0002t0018 a0004c0004t0001 a0004c0004t0009 a0005c0011t0034 a0005c0013t0001 a0005c0021t0009 a0007c0006t0001 a0008c0007t0001 a0008c0007t0007 a0009c0009t0001 a0012c0010t0001 a0016c0032t0008 a0018c0050t0001 a0021c0034t0001 a0024c0027t0001 a0029c0042t0001 a0032c0051t0028	a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0115 others(63): Show a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0124 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0165 a0001c0001t0002g0173 a0001c0001t0008g0198 a0001c0001t0008g0210 a0001c0001t0012g0025 a0001c0019t0001g0030 a0001c0035t0002g0032 a0002c0003t0001g0006 a0002c0003t0001g0013 a0002c0003t0001g0028 a0002c0003t0001g0119 a0002c0003t0001g0123 a0002c0003t0001g0125 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0168 a0002c0003t0001g0172 a0002c0003t0002g0016 a0002c0003t0003g0191 a0002c0003t0007g0148 a0002c0003t0029g0156 a0002c0003t0030g0169 a0002c0043t0001g0012 a0002c0045t0001g0152 a0003c0002t0001g0003 a0003c0002t0001g0011 a0003c0002t0001g0015 a0003c0002t0001g0024 a0003c0002t0001g0098 a0003c0002t0001g0107 a0003c0002t0001g0116 a0003c0002t0001g0151 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0003g0200 a0003c0002t0003g0206 a0003c0002t0003g0212 a0003c0002t0018g0216 a0004c0004t0001g0029 a0004c0004t0001g0131 a0004c0004t0001g0154 a0004c0004t0009g0102 a0005c0011t0034g0144 a0005c0013t0001g0007 a0005c0021t0009g0132 a0007c0006t0001g0008 a0008c0007t0001g0127 a0008c0007t0007g0137 a0009c0009t0001g0005 a0012c0010t0001g0120 a0016c0032t0008g0207 a0018c0050t0001g0114 a0021c0034t0001g0103 a0024c0027t0001g0126 a0029c0042t0001g0133 a0032c0051t0028g0004	66	123	0.5366	15	c.168 others(34): Show c.168+24610_168+24624dupAAAAAAAAAAAAAAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76608541	A A	ATAGCATA others(8): Show ATAGCATAGCATAGCG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0015 a0012c0010t0015	a0012c0010t0015g0035 a0012c0010t0015g0035	1	216	0.0046	15	c.323 others(34): Show c.323+52792_323+52793insGTAGCATAGCATAGC	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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