Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SH3TC2_chr5_148977150_149068062	149021884	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0147 a0001c0001t0016g0147	1	195	0.0051	-18	c.305 others(37): Show c.3053+4670_3053+4687delAAAAAAAAAAAAAAAAAA	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SH3YL1_chr2_213144_269032	226749	TTGGGGAG others(11): Show TTGGGGAGTGTATATATGG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG03098.hp2 HG00642.hp1 HG01109.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124	3	358	0.0084	-18	c.782 others(35): Show c.782-1847_782-1830delCCATATATACACTCCCCA	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	8/9			chr2	TogoVar
SHANK1_chr19_50654255_50724802	50657574	TAATACGA others(11): Show TAATACGAATATAAAAGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0075	a0001c0003t0075g0125 a0001c0003t0075g0125	1	314	0.0032	-18	c.43 others(29): Show c.4373_*4390delTCCTTTTATATTCGTATT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding		1680		chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707888	TTTCTTTT others(11): Show TTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01168.hp2 others(4): Show HG01081.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG03654.hp1 NA20805.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0002 a0001c0003 a0003c0005 others(1): Show a0001c0002 a0001c0003 a0003c0005 a0016c0029	a0001c0002t0001 a0001c0002t0040 a0001c0003t0004 others(3): Show a0001c0002t0001 a0001c0002t0040 a0001c0003t0004 a0001c0003t0044 a0003c0005t0003 a0016c0029t0001	a0001c0002t0001g0097 a0001c0002t0040g0010 a0001c0003t0004g0099 others(4): Show a0001c0002t0001g0097 a0001c0002t0040g0010 a0001c0003t0004g0099 a0001c0003t0004g0100 a0001c0003t0044g0011 a0003c0005t0003g0101 a0016c0029t0001g0206	7	304	0.0230	-18	c.107 others(37): Show c.1078-3392_1078-3375delGAAAAGAAAAGAAAAGAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHB_chr9_37910898_38074227	38042059	GCCGACGT others(11): Show GCCGACGTCTGGCTTCGCC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	328	0.0030	-18	c.717 others(37): Show c.717+25852_717+25869delGGCGAAGCCAGACGTCGG	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	1/5			chr9	TogoVar
SHB_chr9_37910898_38074227	38071349	TGTGAGAG others(11): Show TGTGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	251	0.0040	-18	c.-27 others(29): Show c.-2722_-2705delTCTCTCTCTCTCTCTCAC	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding		2123		chr9	TogoVar
SHB_chr9_37910898_38074227	38071351	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp1 others(18): Show HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG01123.hp1 HG01175.hp1 HG01256.hp1 HG01516.hp1 HG02735.hp2 HG03669.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18949.hp1 NA18951.hp2 NA18980.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 others(4): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0004t0035 a0001c0004t0037 a0001c0004t0054	a0001c0003t0001g0104 a0001c0003t0001g0122 a0001c0003t0001g0172 others(18): Show a0001c0003t0001g0104 a0001c0003t0001g0122 a0001c0003t0001g0172 a0001c0004t0001g0115 a0001c0004t0003g0082 a0001c0004t0003g0105 a0001c0004t0003g0107 a0001c0004t0003g0109 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0004t0003g0141 a0001c0004t0003g0171 a0001c0004t0003g0177 a0001c0004t0009g0006 a0001c0004t0009g0007 a0001c0004t0009g0008 a0001c0004t0009g0009 a0001c0004t0035g0106 a0001c0004t0037g0111 a0001c0004t0054g0139	21	167	0.1257	-18	c.-27 others(29): Show c.-2724_-2707delTCTCTCTCTCTCTCTCTC	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding		2125		chr9	TogoVar
SHC2_chr19_411589_466033	414289	ACACGCCA others(11): Show ACACGCCATCTCCTCTGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00621.hp2 others(76): Show HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01071.hp2 HG01109.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19066.hp2 NA19080.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0013 a0001c0017 a0001c0023 a0002c0004 a0002c0012 a0002c0024 a0003c0008 a0004c0011 a0005c0009 a0006c0010 a0008c0015 a0009c0021 a0011c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0003t0004 a0001c0006t0002 a0001c0006t0006 a0001c0007t0002 a0001c0007t0003 a0001c0013t0005 a0001c0017t0005 a0001c0023t0007 a0002c0004t0004 a0002c0012t0002 a0002c0012t0004 a0002c0024t0003 a0003c0008t0003 a0003c0008t0005 a0004c0011t0005 a0005c0009t0005 a0006c0010t0002 a0008c0015t0012 a0009c0021t0002 a0011c0022t0002	a0001c0001t0002g0035 a0001c0001t0002g0051 a0001c0001t0002g0056 others(73): Show a0001c0001t0002g0035 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0001t0002g0101 a0001c0001t0003g0005 a0001c0001t0003g0032 a0001c0001t0003g0049 a0001c0001t0003g0070 a0001c0001t0003g0172 a0001c0001t0003g0181 a0001c0001t0004g0002 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0005g0053 a0001c0001t0005g0102 a0001c0001t0007g0038 a0001c0001t0011g0034 a0001c0002t0002g0045 a0001c0002t0003g0044 a0001c0002t0003g0084 a0001c0002t0003g0091 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0004g0087 a0001c0002t0004g0096 a0001c0002t0004g0107 a0001c0002t0004g0158 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0003t0002g0001 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0068 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0100 a0001c0003t0002g0112 a0001c0003t0002g0118 a0001c0003t0002g0152 a0001c0003t0002g0182 a0001c0003t0004g0109 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0006t0002g0022 a0001c0006t0002g0023 a0001c0006t0006g0010 a0001c0007t0002g0077 a0001c0007t0003g0039 a0001c0013t0005g0006 a0001c0017t0005g0055 a0001c0023t0007g0187 a0002c0004t0004g0191 a0002c0004t0004g0203 a0002c0012t0002g0205 a0002c0012t0004g0195 a0002c0024t0003g0200 a0003c0008t0003g0184 a0003c0008t0005g0183 a0004c0011t0005g0057 a0004c0011t0005g0061 a0005c0009t0005g0047 a0006c0010t0002g0066 a0006c0010t0002g0067 a0008c0015t0012g0026 a0009c0021t0002g0028 a0011c0022t0002g0185	79	210	0.3762	-18	c.30 others(29): Show c.3021_*3038delGGCAGAGGAGATGGCGTG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding		2299		chr19	TogoVar
SHC4_chr15_48818741_48968919	48916273	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0221 a0001c0002t0004g0221	1	68	0.0147	-18	c.656 others(35): Show c.656+8588_656+8605delTGTGTGTGTGTGTGTGTG	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48917243	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA20300.hp2 HG02572.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0005 a0001c0001t0003 a0001c0004t0005	a0001c0001t0003g0279 a0001c0004t0005g0376 a0001c0001t0003g0279 a0001c0004t0005g0376	2	23	0.0870	-18	c.656 others(35): Show c.656+7618_656+7635delCACACACACACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48968538	AACACACA others(11): Show AACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01106.hp2 others(6): Show HG00597.hp1 HG00597.hp2 HG01106.hp2 HG03710.hp1 NA18612.hp1 NA18941.hp1 NA18955.hp1 NA19076.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0002c0003 others(1): Show a0001c0001 a0001c0006 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0001 a0002c0003t0003 a0004c0005t0001	a0001c0001t0001g0122 a0001c0001t0001g0327 a0001c0001t0002g0092 others(6): Show a0001c0001t0001g0122 a0001c0001t0001g0327 a0001c0001t0002g0092 a0001c0001t0002g0340 a0001c0001t0004g0123 a0001c0001t0004g0136 a0001c0006t0001g0319 a0002c0003t0003g0357 a0004c0005t0001g0298	9	28	0.3214	-18	c.-55 others(29): Show c.-5541_-5524delGTGTGTGTGTGTGTGTGT	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding		4620		chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182898672	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG03225.hp2 others(3): Show HG02145.hp1 HG02717.hp2 HG03225.hp2 NA18942.hp2 NA19000.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0113 a0001c0003t0001g0115 a0001c0003t0001g0116 others(3): Show a0001c0003t0001g0113 a0001c0003t0001g0115 a0001c0003t0001g0116 a0002c0002t0001g0015 a0002c0002t0001g0022 a0002c0002t0001g0041	6	13	0.4615	-18	c.12 others(29): Show c.1293_*1310delTTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1192		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924770	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	299	0.0033	-18	c.118 others(37): Show c.1182+4859_1182+4876delCTTTCTTTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG03209.hp2 HG00323.hp1 HG01192.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0189 a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0189	3	11	0.2727	-18	c.118 others(37): Show c.1182+2579_1182+2596delTATATATATATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930547	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG01070.hp2 others(35): Show HG00140.hp2 HG00597.hp2 HG01070.hp2 HG01106.hp2 HG01261.hp2 HG02027.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02970.hp2 HG03225.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18992.hp2 NA19000.hp2 NA19057.hp1 NA19058.hp1 NA19086.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 a0001c0001t0001 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0290 a0002c0002t0001g0002 a0002c0002t0001g0003 others(35): Show a0001c0001t0001g0290 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0003c0006t0001g0056 a0003c0006t0001g0061	38	235	0.1617	-18	c.107 others(35): Show c.1077-813_1077-796delTATATATATATATACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930549	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG03225.hp2 HG02145.hp1 HG02717.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0113 a0001c0003t0001g0115 a0001c0003t0001g0116	3	300	0.0100	-18	c.107 others(35): Show c.1077-815_1077-798delTATATATATATATATACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930551	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	127	0.0079	-18	c.107 others(35): Show c.1077-817_1077-800delTATATATATATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930653	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01106.hp2 others(28): Show HG00140.hp2 HG01070.hp2 HG01106.hp2 HG01261.hp2 HG02015.hp1 HG02027.hp2 HG02132.hp1 HG02155.hp2 HG02602.hp2 HG03942.hp2 HG04184.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18988.hp1 NA18992.hp2 NA19057.hp1 NA19058.hp1 NA19086.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0014 a0002c0002 a0007c0014	a0002c0002t0001 a0007c0014t0001 a0002c0002t0001 a0007c0014t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 others(28): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0007c0014t0001g0302	31	174	0.1782	-18	c.107 others(35): Show c.1077-919_1077-902delCACACACACACACACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHFL_chr19_10081317_10098243	10088953	TATAATAA others(11): Show TATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	175	0.0057	-18	c.196 others(33): Show c.196-682_196-665delATAATAATAATAATAATA	SHFL	ENSG00000130813.18	transcript	ENST00000253110.16	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
SHFL_chr19_10081317_10098243	10096755	AGCTCTTG others(11): Show AGCTCTTGGCGCCAGGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	442	0.0023	-18	c.44 others(29): Show c.4454_*4471delGCTCTTGGCGCCAGGCCG	SHFL	ENSG00000130813.18	transcript	ENST00000253110.16	protein_coding		3513		chr19	TogoVar
SHISA6_chr17_11236213_11569063	11277266	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0145 a0001c0001t0005g0145	1	190	0.0053	-18	c.799 others(37): Show c.799+13742_799+13759delTCTCTCTCTCTCTCACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11388790	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03130.hp2 HG01258.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0003 a0001c0001t0011 a0001c0002t0003	a0001c0001t0011g0068 a0001c0002t0003g0050 a0001c0001t0011g0068 a0001c0002t0003g0050	2	27	0.0741	-18	c.895 others(35): Show c.895+9315_895+9332delATATATATATATATATAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11526880	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02895.hp1 others(1): Show HG02145.hp1 HG02622.hp1 HG02895.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0013 a0001c0003t0036 a0001c0001t0002 a0001c0001t0013 a0001c0003t0036	a0001c0001t0002g0015 a0001c0001t0013g0027 a0001c0001t0013g0116 others(1): Show a0001c0001t0002g0015 a0001c0001t0013g0027 a0001c0001t0013g0116 a0001c0003t0036g0075	4	9	0.4444	-18	c.896 others(37): Show c.896-24977_896-24960delATATATATATATATATAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11531211	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02056.hp1 others(22): Show HG01109.hp1 HG01884.hp1 HG02056.hp1 HG02129.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02647.hp2 HG02886.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03710.hp2 HG03927.hp1 HG04228.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18950.hp2 NA18999.hp1 NA19005.hp2 NA19056.hp2 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0004c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0038 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0002 a0001c0003t0011 a0001c0003t0015 a0001c0003t0034 a0001c0006t0044 a0004c0007t0039	a0001c0001t0002g0008 a0001c0001t0002g0019 a0001c0001t0002g0029 others(22): Show a0001c0001t0002g0008 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0061 a0001c0001t0002g0150 a0001c0001t0005g0065 a0001c0001t0005g0145 a0001c0001t0005g0166 a0001c0001t0015g0083 a0001c0001t0015g0084 a0001c0001t0026g0046 a0001c0001t0027g0073 a0001c0001t0028g0143 a0001c0001t0033g0173 a0001c0001t0038g0141 a0001c0002t0002g0020 a0001c0002t0002g0100 a0001c0002t0003g0094 a0001c0002t0005g0098 a0001c0003t0002g0105 a0001c0003t0011g0106 a0001c0003t0015g0123 a0001c0003t0034g0137 a0001c0006t0044g0074 a0004c0007t0039g0107	25	30	0.8333	-18	c.896 others(37): Show c.896-20647_896-20630delGTGTGTGTGTGTGTGTGT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12943320	TGTGTGTG others(11): Show TGTGTGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0053 a0001c0001t0048g0053	1	208	0.0048	-18	c.691 others(37): Show c.691+26507_691+26524delTGTGTGTGTGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12970317	GTATATAT others(11): Show GTATATATACATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	214	0.0047	-18	c.691 others(37): Show c.691+53518_691+53535delATATATATATACATATAT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12970483	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01496.hp2 HG00280.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0002g0177 a0001c0001t0001g0093 a0001c0001t0002g0177	2	214	0.0093	-18	c.691 others(37): Show c.691+53670_691+53687delATATATATATATATTTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12970485	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0004 a0001c0003t0005g0004	1	210	0.0048	-18	c.691 others(37): Show c.691+53672_691+53689delATATATATATATTTTTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13037091	CACACACA others(11): Show CACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0072 a0001c0004t0009g0072	1	214	0.0047	-18	c.691 others(39): Show c.691+120294_691+120311delGACACACACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13107472	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01884.hp2 HG02486.hp2 others(16): Show HG01433.hp2 HG01884.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0046 a0001c0001t0054 a0001c0001t0063 a0001c0001t0085 a0001c0002t0006 a0001c0002t0013 a0001c0002t0082	a0001c0001t0001g0054 a0001c0001t0002g0045 a0001c0001t0002g0060 others(16): Show a0001c0001t0001g0054 a0001c0001t0002g0045 a0001c0001t0002g0060 a0001c0001t0005g0178 a0001c0001t0008g0050 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0057 a0001c0001t0014g0076 a0001c0001t0021g0058 a0001c0001t0023g0119 a0001c0001t0024g0110 a0001c0001t0046g0040 a0001c0001t0054g0020 a0001c0001t0063g0138 a0001c0001t0085g0167 a0001c0002t0006g0117 a0001c0002t0013g0125 a0001c0002t0082g0186	19	49	0.3878	-18	c.692 others(37): Show c.692-95896_692-95879delCACACACACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13121832	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03710.hp2 NA18612.hp2 others(1): Show HG02132.hp1 HG03710.hp2 NA18612.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 others(1): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0068	a0001c0001t0008g0129 a0001c0001t0015g0032 a0001c0001t0016g0212 others(1): Show a0001c0001t0008g0129 a0001c0001t0015g0032 a0001c0001t0016g0212 a0001c0001t0068g0044	4	37	0.1081	-18	c.692 others(37): Show c.692-81528_692-81511delCACACACACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181267	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02300.hp1 HG00639.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0163 a0001c0001t0004g0048 a0001c0001t0002g0163 a0001c0001t0004g0048	2	143	0.0140	-18	c.692 others(37): Show c.692-22098_692-22081delTATATATATATATATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181296	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0091 a0001c0001t0090 a0001c0001t0091	a0001c0001t0090g0170 a0001c0001t0091g0065 a0001c0001t0090g0170 a0001c0001t0091g0065	2	214	0.0093	-18	c.692 others(37): Show c.692-22096_692-22079delTATATATATATATATACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44247868	AGCCACCT others(11): Show AGCCACCTGGCTTTCTTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0179 a0001c0002t0074g0179	1	295	0.0034	-18	c.17 others(29): Show c.1799_*1816delACAAGAAAGCCAGGTGGC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	5/5	1799		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284233	TCCAAAGA others(11): Show TCCAAAGAGGAGGCAGCAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18747.hp2 NA18951.hp1 others(4): Show HG00423.hp2 NA18747.hp2 NA18951.hp1 NA19000.hp1 NA19055.hp1 NA19064.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0081 a0001c0001t0001g0347 a0001c0001t0006g0073 others(4): Show a0001c0001t0001g0081 a0001c0001t0001g0347 a0001c0001t0006g0073 a0001c0001t0006g0171 a0001c0001t0008g0069 a0001c0001t0008g0076 a0001c0001t0008g0205	7	378	0.0185	-18	c.599 others(35): Show c.599+1177_599+1194delTTGCTGCCTCCTCTTTGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHKBP1_chr19_40571873_40596397	40577948	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp1 NA19043.hp1 HG02258.hp1 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0002g0192 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0002g0192	3	125	0.0240	-18	c.261 others(33): Show c.261-179_261-162delACACACACACACACACAC	SHKBP1	ENSG00000160410.15	transcript	ENST00000291842.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
SHLD1_chr20_5745401_5869395	5817422	CTCTCTCT others(11): Show CTCTCTCTCTCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	324	0.0031	-18	c.178 others(37): Show c.178+44381_178+44398delCTCTCTCTCTGTGTGTGT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5860876	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	38	0.0263	-18	c.179 others(35): Show c.179-2130_179-2113delAAAAAAAAAAAAAAAAAA	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD2_chr10_87090206_87196465	87119636	TGTAGTCC others(11): Show TGTAGTCCCAACTACTCGG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02451.hp1 HG02895.hp1 others(5): Show HG01433.hp1 HG02451.hp1 HG02895.hp1 HG03225.hp2 HG03579.hp1 NA18906.hp1 NA19004.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0057 a0005c0006t0001g0006 a0005c0006t0001g0007 others(5): Show a0001c0001t0001g0057 a0005c0006t0001g0006 a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0009 a0005c0006t0001g0010 a0005c0006t0001g0011 a0005c0006t0001g0012	8	338	0.0237	-18	c.-6+ others(35): Show c.-6+22666_-6+22683delGTAGTCCCAACTACTCGG	SHLD2	ENSG00000122376.12	transcript	ENST00000298786.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOC2_chr10_110914604_111018665	110940910	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00673.hp1 others(83): Show HG00558.hp1 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02273.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03453.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18949.hp2 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19072.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0091 others(74): Show a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0197 a0001c0001t0001g0280 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0301 a0001c0001t0002g0348	86	87	0.9885	-18	c.-23 others(39): Show c.-235+21274_-235+21291delTTTTTTTTTTTTTTTTTT	SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOX2_chr3_158090905_158111420	158103230	CGCACTCA others(11): Show CGCACTCACTTGCTCCGCA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19077.hp2 HG00609.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	2	378	0.0053	-18	c.347 others(33): Show c.347-362_347-345delTGCGGAGCAAGTGAGTGC	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	1/4			chr3	TogoVar
SHOX_chrX_625791_656584	655598	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0108 a0001c0001t0116g0108	1	207	0.0048	-18	c.10 others(31): Show c.10963_*10980delTCTCTCTCTCTCTCTCTA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4015		chrX	TogoVar
SHOX_chrX_625791_656584	655604	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 NA18980.hp2 HG01516.hp2 HG01517.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0138 a0001c0001t0013 a0001c0001t0138	a0001c0001t0013g0002 a0001c0001t0138g0182 a0001c0001t0013g0002 a0001c0001t0138g0182	3	200	0.0150	-18	c.10 others(31): Show c.10969_*10986delTCTCTCTCTCTATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4021		chrX	TogoVar
SHOX_chrX_625791_656584	655606	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 NA19074.hp2 NA20300.hp2 HG00323.hp1 NA19074.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022	a0001c0001t0016g0115 a0001c0001t0018g0058 a0001c0001t0022g0118 a0001c0001t0016g0115 a0001c0001t0018g0058 a0001c0001t0022g0118	3	198	0.0152	-18	c.10 others(31): Show c.10971_*10988delTCTCTCTCTATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4023		chrX	TogoVar
SHOX_chrX_625791_656584	655608	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01169.hp2 HG01884.hp2 others(2): Show HG00558.hp1 HG01169.hp2 HG01884.hp2 HG02559.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0056 others(2): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0056 a0001c0001t0058 a0001c0001t0099	a0001c0001t0001g0007 a0001c0001t0018g0098 a0001c0001t0056g0088 others(2): Show a0001c0001t0001g0007 a0001c0001t0018g0098 a0001c0001t0056g0088 a0001c0001t0058g0015 a0001c0001t0099g0206	5	197	0.0254	-18	c.10 others(31): Show c.10973_*10990delTCTCTCTATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4025		chrX	TogoVar
SHOX_chrX_625791_656584	655610	CTCTCTAT others(11): Show CTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG06807.hp1 NA18950.hp2 HG01168.hp1 HG06807.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0052 a0001c0001t0100 a0001c0001t0001 a0001c0001t0052 a0001c0001t0100	a0001c0001t0001g0007 a0001c0001t0052g0090 a0001c0001t0100g0096 a0001c0001t0001g0007 a0001c0001t0052g0090 a0001c0001t0100g0096	3	201	0.0149	-18	c.10 others(31): Show c.10975_*10992delTCTCTATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4027		chrX	TogoVar
SHOX_chrX_625791_656584	655612	CTCTATAT others(11): Show CTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0153 a0001c0001t0011g0153	1	196	0.0051	-18	c.10 others(31): Show c.10977_*10994delTCTATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4029		chrX	TogoVar
SHOX_chrX_625791_656584	655614	CTATATAT others(11): Show CTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0052 a0001c0001t0020g0052	1	184	0.0054	-18	c.10 others(31): Show c.10979_*10996delTATATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4031		chrX	TogoVar
SHQ1_chr3_72744277_72853445	72745720	GTTTATAA others(11): Show GTTTATAAAAGTGCTTTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0207 a0007c0007t0001g0208 a0007c0007t0001g0207 a0007c0007t0001g0208	2	220	0.0091	-18	c.45 others(29): Show c.4546_*4563delTCAAAGCACTTTTATAAA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3556		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72763046	CACACACA others(11): Show CACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	220	0.0045	-18	c.118 others(39): Show c.1182-12228_1182-12211delCTGTGTGTGTGTGTGTGT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar

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