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
SH3PXD2B_chr5_172328499_172459525	172329083	A A	ATATATTT others(6): Show ATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA19007.hp1 NA19065.hp2 others(1): Show NA18942.hp2 NA19007.hp1 NA19065.hp2 NA19090.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0001c0008 a0008c0011 a0001c0003 a0001c0008 a0008c0011	a0001c0003t0020 a0001c0008t0017 a0008c0011t0035 a0001c0003t0020 a0001c0008t0017 a0008c0011t0035	a0001c0003t0020g0224 a0001c0003t0020g0247 a0001c0008t0017g0098 others(1): Show a0001c0003t0020g0224 a0001c0003t0020g0247 a0001c0008t0017g0098 a0008c0011t0035g0010	4	68	0.0588	13	c.92 others(24): Show c.9285_*9286insAAAAAAAAATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		4415		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172366932	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA20300.hp2 HG01106.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0104 a0001c0002t0007g0105 a0001c0002t0002g0104 a0001c0002t0007g0105	2	131	0.0153	13	c.428 others(30): Show c.428-4076_428-4064dupAAAAAAAAAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172434783	T T	TTTTTGTT others(6): Show TTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(74): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG02015.hp1 HG02080.hp2 HG02109.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03540.hp1 HG03654.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18984.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19060.hp1 NA19067.hp1 NA19068.hp2 NA19079.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0010	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018 a0002c0010 a0003c0007 a0005c0014 a0006c0009 a0010c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0061 a0001c0001t0067 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0002t0001 a0001c0002t0006 a0001c0003t0005 a0001c0003t0017 a0001c0003t0020 a0001c0003t0059 a0001c0018t0058 a0002c0010t0053 a0003c0007t0013 a0005c0014t0051 a0006c0009t0003 a0010c0017t0015	a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0139 others(74): Show a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0162 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0237 a0001c0001t0004g0241 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0249 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0259 a0001c0001t0006g0027 a0001c0001t0006g0055 a0001c0001t0012g0235 a0001c0001t0012g0244 a0001c0001t0012g0258 a0001c0001t0016g0135 a0001c0001t0028g0015 a0001c0001t0028g0040 a0001c0001t0029g0275 a0001c0001t0029g0276 a0001c0001t0031g0006 a0001c0001t0061g0019 a0001c0001t0067g0210 a0001c0001t0076g0260 a0001c0001t0077g0243 a0001c0001t0079g0234 a0001c0001t0080g0272 a0001c0001t0081g0256 a0001c0001t0082g0250 a0001c0001t0084g0274 a0001c0001t0085g0277 a0001c0001t0086g0278 a0001c0001t0087g0279 a0001c0002t0001g0134 a0001c0002t0006g0023 a0001c0003t0005g0028 a0001c0003t0017g0143 a0001c0003t0020g0224 a0001c0003t0020g0228 a0001c0003t0020g0247 a0001c0003t0059g0048 a0001c0018t0058g0160 a0002c0010t0053g0051 a0003c0007t0013g0003 a0003c0007t0013g0004 a0003c0007t0013g0005 a0005c0014t0051g0024 a0006c0009t0003g0253 a0006c0009t0003g0257 a0010c0017t0015g0136	77	278	0.2770	13	c.76- others(30): Show c.76-12288_76-12287insCAAAAAAACAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109206490	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	32	0.0313	13	c.573 others(32): Show c.573+76390_573+76402dupAAAAAAAAAAAAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109317179	A A	AGTTTTCA others(6): Show AGTTTTCATCCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp2 others(63): Show HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18906.hp1 NA18964.hp1 NA18975.hp2 NA18983.hp1 NA19002.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0016 a0001c0017 a0001c0022 a0001c0023 a0001c0025 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0047 a0001c0001t0050 a0001c0001t0056 a0001c0001t0060 a0001c0001t0064 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0014 a0001c0003t0020 a0001c0003t0032 a0001c0003t0062 a0001c0003t0065 a0001c0003t0068 a0001c0005t0004 a0001c0005t0017 a0001c0005t0025 a0001c0007t0002 a0001c0008t0019 a0001c0010t0027 a0001c0016t0003 a0001c0017t0006 a0001c0022t0051 a0001c0023t0052 a0001c0025t0045 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0034 a0003c0006t0008	a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0155 others(63): Show a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0155 a0001c0001t0002g0073 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0003g0072 a0001c0001t0003g0112 a0001c0001t0003g0126 a0001c0001t0005g0024 a0001c0001t0007g0145 a0001c0001t0009g0147 a0001c0001t0013g0053 a0001c0001t0015g0131 a0001c0001t0016g0127 a0001c0001t0016g0128 a0001c0001t0018g0130 a0001c0001t0018g0133 a0001c0001t0019g0103 a0001c0001t0023g0144 a0001c0001t0024g0141 a0001c0001t0029g0057 a0001c0001t0037g0137 a0001c0001t0039g0019 a0001c0001t0041g0050 a0001c0001t0044g0023 a0001c0001t0047g0046 a0001c0001t0050g0010 a0001c0001t0056g0153 a0001c0001t0060g0132 a0001c0001t0064g0101 a0001c0001t0069g0090 a0001c0001t0072g0136 a0001c0001t0074g0001 a0001c0003t0001g0022 a0001c0003t0001g0045 a0001c0003t0002g0079 a0001c0003t0003g0085 a0001c0003t0014g0075 a0001c0003t0020g0077 a0001c0003t0032g0135 a0001c0003t0062g0067 a0001c0003t0065g0106 a0001c0003t0068g0076 a0001c0005t0004g0040 a0001c0005t0017g0110 a0001c0005t0017g0111 a0001c0005t0025g0146 a0001c0007t0002g0105 a0001c0008t0019g0069 a0001c0010t0027g0018 a0001c0016t0003g0102 a0001c0017t0006g0021 a0001c0022t0051g0013 a0001c0023t0052g0009 a0001c0025t0045g0064 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0004g0160 a0002c0002t0005g0171 a0002c0002t0034g0157 a0003c0006t0008g0008	66	172	0.3837	13	c.574 others(32): Show c.574-30487_574-30486insCCTCTGTTTTCAT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC2_chr5_148977150_149068062	149020113	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0034 a0001c0002t0057g0034	1	33	0.0303	13	c.305 others(32): Show c.3053+6458_3053+6459insGTGTGTGTGTGTG	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SH3TC2_chr5_148977150_149068062	149023583	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG02109.hp1 others(2): Show HG01175.hp2 HG02055.hp2 HG02109.hp1 NA18906.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0100 a0002c0003t0110 others(2): Show a0002c0003t0017 a0002c0003t0100 a0002c0003t0110 a0002c0003t0118 a0002c0003t0120	a0002c0003t0017g0230 a0002c0003t0100g0202 a0002c0003t0110g0226 others(2): Show a0002c0003t0017g0230 a0002c0003t0100g0202 a0002c0003t0110g0226 a0002c0003t0118g0227 a0002c0003t0120g0242	5	29	0.1724	13	c.305 others(32): Show c.3053+2976_3053+2988dupAAAAAAAAAAAAA	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SHB_chr9_37910898_38074227	38001720	T T	TAGGGTTA others(6): Show TAGGGTTAGTTCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	328	0.0030	13	c.838 others(32): Show c.838+14290_838+14291insTGGAACTAACCCT	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	2/5			chr9	TogoVar
SHC3_chr9_89000771_89183818	89027327	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01109.hp1 others(26): Show HG00741.hp2 HG01070.hp1 HG01109.hp1 HG01168.hp1 HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0033 a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0002t0029 a0001c0003t0003 a0001c0007t0018	a0001c0001t0002g0044 a0001c0001t0002g0106 a0001c0001t0002g0109 others(26): Show a0001c0001t0002g0044 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0055 a0001c0001t0003g0089 a0001c0001t0003g0103 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0029 a0001c0001t0008g0107 a0001c0001t0013g0104 a0001c0001t0014g0025 a0001c0001t0014g0105 a0001c0001t0014g0137 a0001c0001t0016g0075 a0001c0001t0017g0046 a0001c0001t0030g0042 a0001c0001t0033g0028 a0001c0002t0002g0039 a0001c0002t0005g0050 a0001c0002t0016g0031 a0001c0002t0029g0051 a0001c0003t0003g0022 a0001c0007t0018g0175	29	123	0.2358	13	c.165 others(34): Show c.1656+10665_1656+10666insAAAAAAAAAAAAA	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	11/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89059843	T T	TGTGGTGG others(6): Show TGTGGTGGAGGATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0149 a0001c0001t0007g0149	1	172	0.0058	13	c.835 others(30): Show c.835+5673_835+5685dupCATCCTCCACCAC	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	6/11			chr9	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0143 a0001c0001t0002g0002 a0001c0001t0002g0143	3	47	0.0638	13	c.656 others(30): Show c.656+5571_656+5583dupAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182898672	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	8	0.1250	13	c.13 others(24): Show c.1310_*1311insTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1192		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182898862	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG02015.hp1 HG02155.hp2 others(11): Show HG01070.hp2 HG02015.hp1 HG02155.hp2 NA18612.hp1 NA18942.hp2 NA18947.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18969.hp1 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0014 a0002c0002 a0007c0014	a0002c0002t0001 a0007c0014t0001 a0002c0002t0001 a0007c0014t0001	a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0011 others(11): Show a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0025 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0037 a0002c0002t0001g0042 a0007c0014t0001g0302	14	216	0.0648	13	c.11 others(24): Show c.1120_*1121insTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1002		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(6): Show GAAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03516.hp2 NA18948.hp2 HG01346.hp2 HG03516.hp2 NA18948.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0107 a0001c0001t0001g0226 a0006c0007t0001g0301 a0001c0001t0001g0107 a0001c0001t0001g0226 a0006c0007t0001g0301	3	127	0.0236	13	c.118 others(32): Show c.1182+4945_1182+4946insTCTTTCTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924788	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	270	0.0037	13	c.118 others(32): Show c.1182+4858_1182+4859insTCTTTCTTTCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924974	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0122 a0001c0003t0001g0122	1	283	0.0035	13	c.118 others(32): Show c.1182+4672_1182+4673insTCTTTCTTTCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924976	A A	AAGAAAGA others(6): Show AAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	288	0.0035	13	c.118 others(32): Show c.1182+4670_1182+4671insCTTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924977	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18961.hp2 HG00544.hp2 NA18961.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0242 a0002c0002t0001g0032 a0001c0001t0001g0242 a0002c0002t0001g0032	2	291	0.0069	13	c.118 others(32): Show c.1182+4669_1182+4670insCTTTCTTTCTTTC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46592951	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01257.hp1 others(3): Show HG00438.hp1 HG00642.hp2 HG01257.hp1 HG02897.hp2 HG02976.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0081 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119	6	7	0.8571	13	c.146 others(32): Show c.1464+2588_1464+2600dupTTTTTTTTTTTTT	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	10/12			chr16	TogoVar
SHCBP1_chr16_46573591_46626379	46599669	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0015 a0001c0006t0005g0015	1	178	0.0056	13	c.134 others(30): Show c.1345+149_1345+161dupTTTTTTTTTTTTT	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	9/12			chr16	TogoVar
SHCBP1_chr16_46573591_46626379	46599688	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG02055.hp1 others(2): Show HG00639.hp2 HG01099.hp2 HG02055.hp1 HG03927.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0087	5	15	0.3333	13	c.134 others(30): Show c.1345+142_1345+143insGTTTTTTTTTTTT	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	9/12			chr16	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00642.hp2 others(25): Show HG00544.hp1 HG00544.hp2 HG00642.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01256.hp2 HG01515.hp2 HG01891.hp2 HG02630.hp1 HG02735.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03492.hp2 HG03831.hp1 HG04228.hp2 HG06807.hp2 NA18952.hp2 NA18998.hp2 NA19056.hp2 NA19065.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0027 others(23): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0004g0105 a0001c0001t0004g0111	28	42	0.6667	13	c.597 others(30): Show c.597-2168_597-2156dupAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHD_chr19_4274266_4295722	4295260	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG06807.hp1 HG03942.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0178 a0002c0003t0003g0022 a0001c0001t0002g0178 a0002c0003t0003g0022	2	165	0.0121	13	c.46 others(24): Show c.4627_*4628insAAAAAAAAAAAAA	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding		4539		chr19	TogoVar
SHISA6_chr17_11236213_11569063	11277241	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	147	0.0068	13	c.799 others(32): Show c.799+13715_799+13716insCTCTCTCTCTCTC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5			chr17	TogoVar
SHISA6_chr17_11236213_11569063	11350174	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0076 a0001c0003t0011g0076	1	185	0.0054	13	c.800 others(32): Show c.800-29237_800-29236insTTTTTTTTTTTTT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11350185	T T	TATTTATT others(6): Show TATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	161	0.0062	13	c.800 others(32): Show c.800-29229_800-29228insATTTATTTATTTA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5			chr17	TogoVar
SHISA7_chr19_55423740_55448300	55434542	T T	TTGTGTGT others(6): Show TTGTGTGTGTATGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp2 HG03927.hp1 others(4): Show HG01891.hp1 HG03195.hp2 HG03927.hp1 NA18961.hp1 NA18982.hp2 NA19070.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 others(2): Show a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0012g0017	7	370	0.0189	13	c.977 others(28): Show c.977-759_977-747dupCCATACACACACA	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3			chr19	TogoVar
SHISA7_chr19_55423740_55448300	55444337	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA18951.hp1 HG02738.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0003g0032 a0001c0001t0001g0013 a0001c0001t0003g0032	2	126	0.0159	13	c.-14 others(24): Show c.-1475_-1474insTTTTTTTTTTTTT	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding		1038		chr19	TogoVar
SHISA9_chr16_12896598_13245416	13019946	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0114	1	213	0.0047	13	c.691 others(34): Show c.691+103133_691+103145dupTTTCTTTCTTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13139470	C C	CTTCCTTC others(6): Show CTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0139 a0001c0001t0011g0139	1	214	0.0047	13	c.692 others(32): Show c.692-63923_692-63911dupTTCCTTCCTTCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44290529	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03139.hp2 NA18949.hp2 HG01346.hp2 HG03139.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0002t0005 a0001c0002t0007 a0001c0001t0022 a0001c0002t0005 a0001c0002t0007	a0001c0001t0022g0057 a0001c0002t0005g0074 a0001c0002t0007g0016 a0001c0001t0022g0057 a0001c0002t0005g0074 a0001c0002t0007g0016	3	287	0.0105	13	c.282 others(30): Show c.282-4797_282-4785dupTTTTTTTTTTTTT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	3/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5775923	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01123.hp1 HG01167.hp1 others(8): Show HG00609.hp1 HG01123.hp1 HG01167.hp1 HG02071.hp2 HG02148.hp2 HG02970.hp2 HG03139.hp1 HG03927.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0002c0003t0001 a0002c0003t0004	a0001c0001t0001g0093 a0001c0001t0001g0198 a0001c0001t0003g0107 others(8): Show a0001c0001t0001g0093 a0001c0001t0001g0198 a0001c0001t0003g0107 a0001c0001t0004g0155 a0001c0001t0004g0159 a0001c0002t0002g0249 a0001c0002t0002g0313 a0001c0002t0005g0314 a0001c0002t0005g0318 a0002c0003t0001g0084 a0002c0003t0004g0305	11	142	0.0775	13	c.178 others(30): Show c.178+2890_178+2902dupTTTTTTTTTTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5785496	A A	ATTAAGAA others(6): Show ATTAAGAATTAAGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	326	0.0031	13	c.178 others(32): Show c.178+12456_178+12468dupAAGAATTAAGCTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5844799	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	110	0.0091	13	c.179 others(32): Show c.179-18224_179-18223insATATATATATTTT	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00673.hp1 others(80): Show HG00408.hp1 HG00438.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18966.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18987.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19063.hp1 NA19084.hp1 NA19088.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0008 a0004c0006t0002 a0005c0008t0001	a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0036 others(80): Show a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0280 a0001c0001t0003g0025 a0001c0001t0003g0045 a0001c0001t0003g0069 a0001c0001t0003g0120 a0001c0001t0003g0218 a0001c0001t0003g0226 a0001c0001t0003g0241 a0001c0001t0003g0258 a0001c0001t0004g0061 a0001c0001t0004g0125 a0001c0001t0004g0200 a0001c0001t0004g0272 a0001c0001t0004g0306 a0001c0001t0009g0203 a0001c0002t0001g0187 a0001c0002t0001g0216 a0001c0002t0002g0001 a0001c0002t0002g0051 a0001c0002t0002g0054 a0001c0002t0002g0071 a0001c0002t0002g0080 a0001c0002t0002g0098 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0157 a0001c0002t0002g0181 a0001c0002t0002g0194 a0001c0002t0002g0230 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0253 a0001c0002t0002g0321 a0001c0002t0005g0034 a0001c0002t0005g0043 a0001c0002t0005g0311 a0001c0002t0005g0318 a0001c0002t0006g0083 a0001c0002t0006g0315 a0001c0002t0010g0031 a0002c0003t0001g0019 a0002c0003t0001g0046 a0002c0003t0001g0139 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0312 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0004g0042 a0002c0003t0004g0186 a0002c0003t0004g0273 a0002c0004t0001g0032 a0002c0004t0001g0115 a0002c0004t0001g0286 a0002c0004t0002g0027 a0002c0004t0002g0076 a0002c0004t0002g0086 a0002c0004t0002g0142 a0002c0004t0002g0151 a0002c0004t0002g0244 a0002c0004t0002g0262 a0002c0004t0002g0276 a0002c0004t0002g0277 a0002c0004t0002g0282 a0002c0004t0005g0308 a0002c0004t0008g0064 a0004c0006t0002g0035 a0004c0006t0002g0229 a0005c0008t0001g0111	83	86	0.9651	13	c.179 others(30): Show c.179-8140_179-8139insTTTTTTTTTTTTT	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(6): Show CTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	214	0.0047	13	c.-51 others(22): Show c.-517_-516insTCTCTCTCTCTCT	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding		316		chr5	TogoVar
SHLD3_chr5_65620027_65635928	65624710	C C	CTCTCTCT others(6): Show CTCTCTCTCTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03225.hp1 NA18906.hp1 HG01109.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0013 a0001c0003t0003g0078 a0001c0003t0003g0013 a0001c0003t0003g0078	3	216	0.0139	13	c.-51 others(22): Show c.-517_-516insTCTCTCTCTTTTT	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding		316		chr5	TogoVar
SHLD3_chr5_65620027_65635928	65627131	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(17): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00733.hp1 HG01123.hp1 HG01255.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG02165.hp2 HG02293.hp2 HG03704.hp1 NA18962.hp2 NA18964.hp1 NA18991.hp1 NA18992.hp2 NA19063.hp1 NA19091.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0001c0001t0003 a0006c0007t0002 a0001c0001t0002 a0001c0001t0003 a0006c0007t0002	a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0028 others(6): Show a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0059 a0001c0001t0003g0030 a0006c0007t0002g0008	20	149	0.1342	13	c.-12 others(32): Show c.-121+2039_-121+2051dupAAAAAAAAAAAAA	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHOC2_chr10_110914604_111018665	110936589	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	34	0.0294	13	c.-23 others(34): Show c.-235+16935_-235+16947dupTTTTTTTTTTTTT	SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOX2_chr3_158090905_158111420	158106620	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	357	0.0028	13	c.-59 others(22): Show c.-597_-596insCTCTCTCTCTCTC	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		201		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158110218	A A	ACCCAGGT others(6): Show ACCCAGGTGATGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG02040.hp1 others(6): Show HG00423.hp2 HG00558.hp2 HG02040.hp1 HG02132.hp1 NA18954.hp2 NA19007.hp1 NA19011.hp2 NA19054.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	9	378	0.0238	13	c.-42 others(24): Show c.-4207_-4195dupGGCATCACCTGGG	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		3799		chr3	TogoVar
SHOX_chrX_625791_656584	648889	C C	CCCTTCTC others(6): Show CCCTTCTCCTTCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(47): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02135.hp1 HG02273.hp1 HG02273.hp2 HG02965.hp1 HG02976.hp1 HG03540.hp2 HG03834.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18975.hp2 NA18981.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19077.hp1 NA19077.hp2 NA19089.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 others(35): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0134 a0001c0001t0168 a0001c0001t0172 a0001c0001t0174	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0021 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0015g0141 a0001c0001t0015g0205 a0001c0001t0016g0115 a0001c0001t0016g0204 a0001c0001t0017g0012 a0001c0001t0017g0197 a0001c0001t0030g0043 a0001c0001t0064g0053 a0001c0001t0065g0056 a0001c0001t0067g0041 a0001c0001t0068g0055 a0001c0001t0069g0202 a0001c0001t0070g0173 a0001c0001t0071g0137 a0001c0001t0072g0026 a0001c0001t0073g0101 a0001c0001t0074g0031 a0001c0001t0075g0050 a0001c0001t0076g0030 a0001c0001t0077g0178 a0001c0001t0078g0170 a0001c0001t0079g0103 a0001c0001t0080g0022 a0001c0001t0081g0175 a0001c0001t0082g0186 a0001c0001t0083g0150 a0001c0001t0084g0196 a0001c0001t0085g0009 a0001c0001t0087g0044 a0001c0001t0088g0194 a0001c0001t0089g0099 a0001c0001t0090g0094 a0001c0001t0092g0176 a0001c0001t0130g0018 a0001c0001t0131g0188 a0001c0001t0132g0034 a0001c0001t0134g0163 a0001c0001t0168g0066 a0001c0001t0172g0201 a0001c0001t0174g0128	50	144	0.3472	13	c.42 others(24): Show c.4253_*4254insCCTTCTCCTTCCT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	4254		chrX	TogoVar
SHPK_chr17_3603240_3641250	3631512	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02622.hp1 others(14): Show HG01891.hp2 HG02109.hp1 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 NA19030.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0010 a0001c0001 a0002c0002 a0010c0010	a0001c0001t0003 a0002c0002t0003 a0002c0002t0017 others(1): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0017 a0010c0010t0003	a0001c0001t0003g0238 a0002c0002t0003g0001 a0002c0002t0003g0012 others(8): Show a0001c0001t0003g0238 a0002c0002t0003g0001 a0002c0002t0003g0012 a0002c0002t0003g0221 a0002c0002t0003g0233 a0002c0002t0003g0234 a0002c0002t0003g0235 a0002c0002t0003g0237 a0002c0002t0003g0244 a0002c0002t0017g0236 a0010c0010t0003g0220	17	65	0.2615	13	c.169 others(30): Show c.169-1179_169-1167dupAAAAAAAAAAAAA	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHPK_chr17_3603240_3641250	3635240	A A	AGGAAGGA others(6): Show AGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03209.hp2 NA18970.hp1 others(3): Show HG02735.hp2 HG03209.hp2 NA18970.hp1 NA19012.hp1 NA19081.hp2 NA19083.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0007 a0001c0001 a0003c0003 a0009c0007	a0001c0001t0001 a0001c0001t0010 a0003c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0010 a0003c0003t0004 a0009c0007t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0010g0183 others(3): Show a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0010g0183 a0001c0001t0010g0184 a0003c0003t0004g0187 a0009c0007t0001g0182	6	285	0.0211	13	c.168 others(28): Show c.168+811_168+812insCTTCCTTCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp1 HG03225.hp1 others(1): Show HG02258.hp1 HG03098.hp1 HG03225.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 others(1): Show a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017	4	100	0.0400	13	c.118 others(34): Show c.1182-14722_1182-14721insAAAAAAAAATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9795117	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	231	0.0043	13	c.165 others(30): Show c.165+8410_165+8411insCTTTCTTTCTTTT	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(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(7): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00621.hp1 HG01081.hp2 HG01993.hp1 HG02109.hp1 HG03942.hp1 NA18942.hp2 NA19060.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0001c0003 a0002c0006 others(2): Show a0001c0001 a0001c0003 a0002c0006 a0003c0004 a0013c0050	a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 a0002c0006t0002 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0013c0050t0001	a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0218 others(7): Show a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0218 a0001c0001t0015g0225 a0001c0003t0001g0056 a0002c0006t0002g0090 a0003c0004t0002g0155 a0003c0004t0003g0142 a0003c0004t0004g0196 a0013c0050t0001g0178	10	20	0.5000	13	c.317 others(30): Show c.317+1295_317+1307dupAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76460827	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02559.hp1 HG02809.hp1 others(5): Show HG02083.hp2 HG02559.hp1 HG02809.hp1 NA18967.hp2 NA18979.hp1 NA19000.hp1 NA19066.hp2 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0014 a0030	a0001c0001 a0001c0019 a0002c0003 others(3): Show a0001c0001 a0001c0019 a0002c0003 a0003c0002 a0014c0016 a0030c0048	a0001c0001t0002 a0001c0001t0014 a0001c0019t0003 others(4): Show a0001c0001t0002 a0001c0001t0014 a0001c0019t0003 a0002c0003t0003 a0003c0002t0001 a0014c0016t0001 a0030c0048t0001	a0001c0001t0002g0166 a0001c0001t0014g0186 a0001c0019t0003g0211 others(5): Show a0001c0001t0002g0166 a0001c0001t0014g0186 a0001c0019t0003g0211 a0002c0003t0003g0201 a0002c0003t0003g0213 a0003c0002t0001g0037 a0014c0016t0001g0099 a0030c0048t0001g0108	8	65	0.1231	13	c.168 others(32): Show c.168+24612_168+24624dupAAAAAAAAAAAAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76547932	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0032 a0032	a0032c0051 a0032c0051	a0032c0051t0028 a0032c0051t0028	a0032c0051t0028g0004 a0032c0051t0028g0004	1	36	0.0278	13	c.169 others(30): Show c.169-7677_169-7676insCACACACACACAC	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	1/10			chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76667966	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01981.hp2 HG02647.hp2 others(6): Show HG00140.hp1 HG01981.hp2 HG02647.hp2 HG03453.hp2 HG03579.hp2 HG03654.hp2 NA18953.hp1 NA18971.hp2 NA19066.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0023	a0001c0001 a0003c0002 a0007c0006 others(1): Show a0001c0001 a0003c0002 a0007c0006 a0023c0039	a0001c0001t0002 a0001c0001t0008 a0003c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0008 a0003c0002t0001 a0007c0006t0005 a0023c0039t0002	a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0146 others(6): Show a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0008g0210 a0003c0002t0001g0041 a0003c0002t0001g0082 a0007c0006t0005g0047 a0023c0039t0002g0065	9	28	0.3214	13	c.324 others(32): Show c.324-42176_324-42164dupAAAAAAAAAAAAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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