Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SH3GL1_chr19_4355370_4405547	4401608	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	18	0.0556	24	c.-12 others(35): Show c.-1241_-1240insCCTTCCTTCCTTCCTTCCTTCCTT	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding		1062		chr19	TogoVar
SH3GL2_chr9_17574066_17802124	17575067	T T	TATTCATT others(17): Show TATTCATTCATTCATTCATTCATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0220 a0001c0001t0019g0220	1	4	0.2500	24	c.-41 others(35): Show c.-4176_-4175insATTCATTCATTCATTCATTCATTC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding		3998		chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17614295	G G	GGAAAAAA others(17): Show GGAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	57	0.0175	24	c.45+ others(41): Show c.45+35008_45+35009insGAAAAAAAAAAAAAAAAAAAAAAA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8			chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17623039	T T	TCCTTCCC others(17): Show TCCTTCCCCTTCCCCTTCCCCTTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	146	0.0068	24	c.45+ others(41): Show c.45+43781_45+43804dupCCCCTTCCCCTTCCCCTTCCCCTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17758561	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	19	0.0526	24	c.115 others(41): Show c.115-2865_115-2842dupAAAAAAAAAAAAAAAAAAAAAAAA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB1_chr1_86699576_86753184	86724886	A A	AATATATA others(17): Show AATATATATATATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	295	0.0034	24	c.570 others(39): Show c.570+482_570+483insTATATATATATATATATAAATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	102	0.0098	24	c.570 others(39): Show c.570+488_570+489insAAAAAATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	102	0.0098	24	c.570 others(39): Show c.570+488_570+489insAAAATATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB2_chr9_129002036_129033331	129025611	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG02451.hp1 others(7): Show HG01106.hp2 HG01167.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG03041.hp2 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0027 a0001c0002t0002	a0001c0001t0001g0120 a0001c0001t0007g0243 a0001c0001t0007g0244 others(7): Show a0001c0001t0001g0120 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0247 a0001c0001t0008g0250 a0001c0001t0008g0251 a0001c0001t0010g0113 a0001c0001t0027g0246 a0001c0002t0002g0064	10	253	0.0395	24	c.63+ others(39): Show c.63+2480_63+2481insTCCTTCCTTCCTTCCTTCCTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19531524	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01106.hp1 HG01496.hp1 HG01070.hp2 HG01106.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0003t0001g0050 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0003t0001g0050	3	51	0.0588	24	c.48 others(35): Show c.4892_*4893insAAAAAAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2452		chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19551550	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp2 NA18906.hp2 others(1): Show HG02630.hp1 HG03540.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0180 a0001c0002t0002g0189 a0001c0002t0002g0190 others(1): Show a0001c0002t0001g0180 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191	4	158	0.0253	24	c.138 others(43): Show c.1385-1468_1385-1467insAAAAAAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19553930	T T	TATATAAT others(17): Show TATATAATATATAATATATATTAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp1 others(80): Show HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01074.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02602.hp1 HG02615.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03942.hp1 HG04228.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0062 a0001c0001t0001g0063 others(80): Show a0001c0001t0001g0010 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0002g0001 a0002c0004t0001g0140 a0002c0004t0001g0144 a0003c0005t0001g0157	83	183	0.4536	24	c.138 others(43): Show c.1385-3871_1385-3848dupTTTAATATATATTATATATTATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19554032	A A	ATATATAA others(17): Show ATATATAATATATATTAAAATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18986.hp1 NA18945.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0117 a0001c0001t0001g0124	2	201	0.0100	24	c.138 others(43): Show c.1385-3973_1385-3950dupATATATTTTAATATATATTATATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19567549	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	183	0.0055	24	c.138 others(43): Show c.1384+1553_1384+1554insATATATATATATATATATATATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19760041	C C	CCTCTCCC others(17): Show CCTCTCCCTCTCCCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0179 a0001c0002t0002g0179	1	95	0.0105	24	c.163 others(43): Show c.163-13601_163-13600insAGAGAGAGAGAGGGAGAGGGAGAG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19878505	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01884.hp1 HG01070.hp2 HG01071.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0010t0001g0199 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0010t0001g0199	3	125	0.0240	24	c.4+8 others(37): Show c.4+8801_4+8802insTCTCTCACACACACACACACACAC	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596663	A A	ACACACAC others(17): Show ACACACACACACACACACACTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0114 a0004c0011t0114	a0004c0011t0114g0106 a0004c0011t0114g0106	1	75	0.0133	24	c.51 others(35): Show c.5152_*5153insAGAGAGTGTGTGTGTGTGTGTGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5152		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596685	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG01257.hp1 HG01258.hp2 HG00544.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0001 a0001c0002t0025g0223 a0001c0002t0025g0001 a0001c0002t0025g0223	3	188	0.0160	24	c.51 others(35): Show c.5130_*5131insTGAGAGAGAGAGAGAGAGAGAGAG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5130		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103608149	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAGTTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0038 a0001c0003t0011g0038	1	248	0.0040	24	c.130 others(43): Show c.1309-2233_1309-2232insTAAACTTTTTTTTTTTTTTTTTTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	13/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103608150	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAGTTTAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(82): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp2 HG02559.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18953.hp2 NA18954.hp1 NA18975.hp2 NA18979.hp1 NA18990.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0023 a0002c0006 a0008c0025 a0010c0022	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(53): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0066 a0001c0001t0081 a0001c0001t0093 a0001c0001t0095 a0001c0001t0099 a0001c0001t0104 a0001c0001t0106 a0001c0001t0107 a0001c0002t0009 a0001c0002t0122 a0001c0003t0003 a0001c0003t0011 a0001c0003t0015 a0001c0003t0032 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0003t0055 a0001c0003t0058 a0001c0003t0060 a0001c0003t0061 a0001c0003t0062 a0001c0003t0065 a0001c0003t0080 a0001c0003t0094 a0001c0003t0098 a0001c0003t0100 a0001c0003t0101 a0001c0003t0105 a0001c0004t0001 a0001c0010t0028 a0001c0010t0038 a0001c0010t0129 a0001c0023t0021 a0002c0006t0003 a0002c0006t0004 a0002c0006t0018 a0002c0006t0031 a0002c0006t0056 a0002c0006t0057 a0002c0006t0059 a0008c0025t0003 a0010c0022t0102	a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 others(82): Show a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0003g0186 a0001c0001t0004g0020 a0001c0001t0004g0052 a0001c0001t0004g0056 a0001c0001t0004g0083 a0001c0001t0005g0147 a0001c0001t0005g0185 a0001c0001t0005g0221 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0232 a0001c0001t0017g0005 a0001c0001t0017g0010 a0001c0001t0017g0030 a0001c0001t0021g0204 a0001c0001t0022g0140 a0001c0001t0023g0099 a0001c0001t0023g0149 a0001c0001t0023g0231 a0001c0001t0030g0023 a0001c0001t0030g0082 a0001c0001t0031g0079 a0001c0001t0040g0170 a0001c0001t0040g0234 a0001c0001t0041g0218 a0001c0001t0042g0162 a0001c0001t0043g0193 a0001c0001t0043g0195 a0001c0001t0066g0004 a0001c0001t0081g0133 a0001c0001t0093g0107 a0001c0001t0095g0121 a0001c0001t0099g0203 a0001c0001t0104g0205 a0001c0001t0106g0173 a0001c0001t0107g0158 a0001c0002t0009g0190 a0001c0002t0122g0217 a0001c0003t0003g0210 a0001c0003t0011g0013 a0001c0003t0011g0027 a0001c0003t0011g0034 a0001c0003t0015g0135 a0001c0003t0015g0136 a0001c0003t0015g0181 a0001c0003t0015g0239 a0001c0003t0032g0003 a0001c0003t0032g0044 a0001c0003t0033g0065 a0001c0003t0033g0085 a0001c0003t0034g0033 a0001c0003t0034g0051 a0001c0003t0035g0058 a0001c0003t0035g0059 a0001c0003t0055g0069 a0001c0003t0058g0064 a0001c0003t0060g0032 a0001c0003t0061g0060 a0001c0003t0062g0011 a0001c0003t0065g0024 a0001c0003t0080g0086 a0001c0003t0094g0213 a0001c0003t0098g0179 a0001c0003t0100g0184 a0001c0003t0101g0182 a0001c0003t0105g0209 a0001c0004t0001g0142 a0001c0010t0028g0031 a0001c0010t0038g0093 a0001c0010t0129g0249 a0001c0023t0021g0128 a0002c0006t0003g0125 a0002c0006t0003g0127 a0002c0006t0004g0043 a0002c0006t0018g0078 a0002c0006t0031g0072 a0002c0006t0056g0046 a0002c0006t0057g0029 a0002c0006t0059g0081 a0008c0025t0003g0152 a0010c0022t0102g0216	85	103	0.8252	24	c.130 others(43): Show c.1309-2234_1309-2233insGTAAACTTTTTTTTTTTTTTTTTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	13/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103608150	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAGTTTACA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01358.hp2 others(20): Show HG01081.hp2 HG01243.hp2 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0004c0011 others(1): Show a0001c0001 a0001c0002 a0004c0011 a0006c0013	a0001c0001t0014 a0001c0001t0024 a0001c0001t0029 others(15): Show a0001c0001t0014 a0001c0001t0024 a0001c0001t0029 a0001c0001t0044 a0001c0001t0067 a0001c0001t0068 a0001c0001t0091 a0001c0001t0092 a0001c0001t0109 a0001c0001t0112 a0001c0001t0113 a0001c0002t0019 a0001c0002t0047 a0004c0011t0108 a0004c0011t0110 a0004c0011t0111 a0004c0011t0114 a0006c0013t0014	a0001c0001t0014g0101 a0001c0001t0014g0154 a0001c0001t0024g0172 others(20): Show a0001c0001t0014g0101 a0001c0001t0014g0154 a0001c0001t0024g0172 a0001c0001t0024g0230 a0001c0001t0029g0070 a0001c0001t0029g0075 a0001c0001t0044g0219 a0001c0001t0044g0244 a0001c0001t0067g0076 a0001c0001t0068g0067 a0001c0001t0091g0235 a0001c0001t0092g0097 a0001c0001t0109g0220 a0001c0001t0112g0245 a0001c0001t0113g0233 a0001c0002t0019g0019 a0001c0002t0047g0240 a0004c0011t0108g0225 a0004c0011t0110g0169 a0004c0011t0111g0226 a0004c0011t0114g0106 a0006c0013t0014g0108 a0006c0013t0014g0115	23	41	0.5610	24	c.130 others(43): Show c.1309-2234_1309-2233insTGTAAACTTTTTTTTTTTTTTTTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	13/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103615483	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18946.hp1 NA18942.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0037 a0001c0002t0002 a0001c0002t0037	a0001c0002t0002g0025 a0001c0002t0037g0040 a0001c0002t0002g0025 a0001c0002t0037g0040	2	9	0.2222	24	c.920 others(41): Show c.920+1690_920+1713dupACACACACACACACACACACACAC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	11/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103702585	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGCGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0115 a0001c0002t0115	a0001c0002t0115g0132 a0001c0002t0115g0132	1	243	0.0041	24	c.399 others(41): Show c.399-9530_399-9529insCACACGCACACACACACACACACA	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103702596	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00673.hp2 others(12): Show HG00280.hp2 HG00423.hp1 HG00673.hp2 HG01106.hp2 HG01261.hp2 HG01928.hp1 HG01978.hp1 HG02080.hp1 HG02155.hp2 HG06807.hp1 NA18979.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0002c0006	a0001c0002t0076 a0001c0003t0015 a0001c0003t0060 others(9): Show a0001c0002t0076 a0001c0003t0015 a0001c0003t0060 a0001c0003t0094 a0001c0003t0098 a0001c0003t0101 a0001c0005t0007 a0002c0006t0018 a0002c0006t0056 a0002c0006t0057 a0002c0006t0059 a0002c0006t0096	a0001c0002t0076g0066 a0001c0003t0015g0136 a0001c0003t0015g0181 others(12): Show a0001c0002t0076g0066 a0001c0003t0015g0136 a0001c0003t0015g0181 a0001c0003t0060g0032 a0001c0003t0094g0213 a0001c0003t0098g0179 a0001c0003t0101g0182 a0001c0005t0007g0187 a0002c0006t0018g0008 a0002c0006t0018g0078 a0002c0006t0018g0080 a0002c0006t0056g0046 a0002c0006t0057g0029 a0002c0006t0059g0081 a0002c0006t0096g0197	15	40	0.3750	24	c.399 others(41): Show c.399-9541_399-9540insACACACACACACACACACACACAC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02083.hp2 HG03209.hp1 others(3): Show HG00741.hp1 HG02083.hp2 HG03209.hp1 HG03492.hp2 NA18946.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0092 a0001c0002t0037 a0001c0003t0003 others(3): Show a0001c0001t0092 a0001c0002t0037 a0001c0003t0003 a0001c0003t0011 a0001c0003t0080 a0001c0004t0020	a0001c0001t0092g0097 a0001c0002t0037g0040 a0001c0003t0003g0210 others(3): Show a0001c0001t0092g0097 a0001c0002t0037g0040 a0001c0003t0003g0210 a0001c0003t0011g0013 a0001c0003t0080g0086 a0001c0004t0020g0183	6	23	0.2609	24	c.73- others(37): Show c.73-204_73-181dupGTGTGTGTGTGTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801566	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0177 a0001c0004t0001g0177	1	248	0.0040	24	c.73- others(37): Show c.73-205_73-204insATGTGTGTGTGTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172345093	A A	AGAAGGAG others(17): Show AGAAGGAGGGAAGGAAGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0075 a0007c0013t0075	a0007c0013t0075g0214 a0007c0013t0075g0214	1	246	0.0041	24	c.118 others(43): Show c.1188+1042_1188+1043insCTTCCCTCCTTCCTTCCCTCCTTC	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	12/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348615	A A	AATCTATC others(17): Show AATCTATCTATCTGTCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02630.hp2 HG02717.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0026 a0001c0012t0026	a0001c0012t0026g0046 a0001c0012t0026g0047 a0001c0012t0026g0046 a0001c0012t0026g0047	2	264	0.0076	24	c.101 others(43): Show c.1013-1284_1013-1283insAGATAGATAGACAGATAGATAGAT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368498	A A	ATATATAT others(17): Show ATATATATATATAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01884.hp2 HG02280.hp1 others(7): Show HG00733.hp1 HG01884.hp2 HG02280.hp1 HG02615.hp1 HG02818.hp2 HG02965.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0071 a0001c0003t0005 a0001c0003t0040 a0001c0008t0005	a0001c0001t0001g0159 a0001c0001t0002g0199 a0001c0001t0012g0258 others(7): Show a0001c0001t0001g0159 a0001c0001t0002g0199 a0001c0001t0012g0258 a0001c0001t0071g0212 a0001c0003t0005g0028 a0001c0003t0005g0197 a0001c0003t0005g0200 a0001c0003t0005g0203 a0001c0003t0040g0198 a0001c0008t0005g0193	10	233	0.0429	24	c.427 others(41): Show c.427+5291_427+5292insATATATATATTTTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368516	T T	TATATATA others(17): Show TATATATATTATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	276	0.0036	24	c.427 others(41): Show c.427+5273_427+5274insTTTATATATATATATAATATATAT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368518	T T	TATATATT others(17): Show TATATATTATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0250 a0001c0001t0082g0250	1	277	0.0036	24	c.427 others(41): Show c.427+5271_427+5272insTTTATATATATATATATAATATAT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368640	T T	TTATATAT others(17): Show TTATATATATAACATATATATATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(41): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18999.hp2 NA19012.hp2 NA19065.hp2 NA19085.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0005c0015 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 a0001c0001t0048 a0001c0001t0054 a0001c0001t0055 a0001c0001t0070 a0001c0001t0071 a0001c0001t0074 a0001c0003t0005 a0001c0003t0015 a0001c0003t0039 a0001c0003t0040 a0001c0003t0050 a0001c0008t0005 a0005c0015t0041 a0008c0011t0033 a0008c0011t0035	a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 others(41): Show a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0002g0122 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0186 a0001c0001t0002g0199 a0001c0001t0004g0219 a0001c0001t0004g0223 a0001c0001t0004g0226 a0001c0001t0007g0132 a0001c0001t0008g0156 a0001c0001t0012g0258 a0001c0001t0012g0261 a0001c0001t0022g0154 a0001c0001t0048g0201 a0001c0001t0054g0064 a0001c0001t0055g0173 a0001c0001t0070g0215 a0001c0001t0071g0212 a0001c0001t0074g0211 a0001c0003t0005g0028 a0001c0003t0005g0061 a0001c0003t0005g0197 a0001c0003t0005g0200 a0001c0003t0005g0203 a0001c0003t0005g0204 a0001c0003t0005g0205 a0001c0003t0015g0042 a0001c0003t0039g0202 a0001c0003t0040g0198 a0001c0003t0050g0163 a0001c0008t0005g0193 a0005c0015t0041g0149 a0008c0011t0033g0009 a0008c0011t0035g0010	44	261	0.1686	24	c.427 others(41): Show c.427+5149_427+5150insTAATATATATATGTTATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439692	G G	GCGCACAC others(17): Show GCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0015 a0010c0017t0015	a0010c0017t0015g0136 a0010c0017t0015g0136	1	64	0.0156	24	c.75+ others(41): Show c.75+14585_75+14586insTGTGTGTGTGTGTGTGTGTGTGCG	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169146055	T T	TATATTCT others(17): Show TATATTCTATATAAAATATATATTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG02965.hp1 others(1): Show HG01109.hp2 HG02630.hp2 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0003 a0001c0002t0012	a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0012g0010 others(1): Show a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0012g0010 a0001c0002t0012g0016	4	170	0.0235	24	c.765 others(41): Show c.765+9424_765+9425insGAATATATATTTTATATAGAATAT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11			chr4	TogoVar
SH3RF1_chr4_169089259_169275956	169146076	T T	TATATTCT others(17): Show TATATTCTATATATTCTATATAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02056.hp1 HG02970.hp1 others(4): Show HG00099.hp1 HG02056.hp1 HG02970.hp1 HG03831.hp2 NA18943.hp2 NA18954.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 others(2): Show a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0016 a0001c0002t0017	a0001c0002t0004g0092 a0001c0002t0004g0159 a0001c0002t0006g0160 others(4): Show a0001c0002t0004g0092 a0001c0002t0004g0159 a0001c0002t0006g0160 a0001c0002t0006g0167 a0001c0002t0012g0020 a0001c0002t0016g0184 a0001c0002t0017g0171	7	177	0.0395	24	c.765 others(41): Show c.765+9403_765+9404insTTTTATATAGAATATATAGAATAT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11			chr4	TogoVar
SH3RF1_chr4_169089259_169275956	169255622	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0195 a0002c0003t0004g0195	1	21	0.0476	24	c.393 others(43): Show c.393+13174_393+13197dupGTGTGTGTGTGTGTGTGTGTGTGT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3RF3_chr2_109124205_109509634	109249467	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	165	0.0061	24	c.574 others(43): Show c.574-98188_574-98165dupTTTCTTTCTTTCTTTCTTTCTTTC	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109249519	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02886.hp1 HG01261.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0056 a0001c0001t0001 a0001c0001t0056	a0001c0001t0001g0155 a0001c0001t0056g0153 a0001c0001t0001g0155 a0001c0001t0056g0153	2	96	0.0208	24	c.574 others(43): Show c.574-98154_574-98153insCTTTCTTTCTTTCTTTCTTTTTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109249583	C C	CCTTCCTT others(17): Show CCTTCCTTCTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0148 a0001c0001t0012g0148	1	38	0.0263	24	c.574 others(43): Show c.574-98088_574-98087insCCTTCTTTTCTTTCTTTCTTTCTT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109393896	C C	CAAAAAAC others(17): Show CAAAAAACCTGCATACATTCAGTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02630.hp2 HG03579.hp2 HG01167.hp2 HG02630.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0011 a0001c0003 a0002c0011	a0001c0003t0001 a0002c0011t0001 a0001c0003t0001 a0002c0011t0001	a0001c0003t0001g0022 a0001c0003t0001g0045 a0002c0011t0001g0164 a0001c0003t0001g0022 a0001c0003t0001g0045 a0002c0011t0001g0164	3	172	0.0174	24	c.946 others(41): Show c.946-4691_946-4690insAAACCTGCATACATTCAGTTTAAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0159 a0002c0002t0031g0159	1	50	0.0200	24	c.214 others(43): Show c.2148+9089_2148+9112dupGAGAGAGAGAGAGAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(17): Show TGGGCTGCCCCTGCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	278	0.0036	24	c.43 others(35): Show c.4386_*4387insGGTGCCTGTTGGCAGGGGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(17): Show TGGGCTGCTCCTGCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(48): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01361.hp2 HG01891.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02165.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp2 NA19011.hp2 NA19012.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0028 others(39): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0198	51	328	0.1555	24	c.43 others(35): Show c.4386_*4387insGGTGCCTGTTGGCAGGAGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214438	C C	CAACAGGC others(17): Show CAACAGGCACCGGGCTGCCCCTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18939.hp1 HG02922.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0108 a0001c0001t0001g0075 a0001c0001t0001g0108	2	353	0.0057	24	c.43 others(35): Show c.4372_*4373insCGCAGGGGCAGCCCGGTGCCTGTT	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3705		chr2	TogoVar
SH3YL1_chr2_213144_269032	214486	C C	CAACAGGC others(17): Show CAACAGGCACCGGGCTGCCCCTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG03017.hp2 HG03195.hp2 others(2): Show HG01106.hp1 HG03017.hp2 HG03195.hp2 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0066 a0001c0001t0003g0088 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0066 a0001c0001t0003g0088 a0001c0001t0003g0089	5	305	0.0164	24	c.43 others(35): Show c.4324_*4325insCGCAGGGGCAGCCCGGTGCCTGTT	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3657		chr2	TogoVar
SH3YL1_chr2_213144_269032	214505	C C	CCTGCCAA others(17): Show CCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18962.hp2 NA18948.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	299	0.0067	24	c.43 others(35): Show c.4305_*4306insAAGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3638		chr2	TogoVar
SH3YL1_chr2_213144_269032	214510	C C	CAACAGGC others(17): Show CAACAGGCACCGGGCTGCCCCTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00735.hp1 others(10): Show HG00323.hp2 HG00639.hp1 HG00735.hp1 HG01433.hp2 HG01975.hp1 HG02055.hp1 HG04199.hp2 NA18612.hp2 NA18972.hp1 NA19011.hp1 NA19012.hp1 NA19067.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0127 a0001c0002t0002g0004 a0001c0002t0002g0223 a0001c0002t0002g0240 a0001c0002t0002g0247	13	220	0.0591	24	c.43 others(35): Show c.4300_*4301insCGCAGGGGCAGCCCGGTGCCTGTT	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3633		chr2	TogoVar
SH3YL1_chr2_213144_269032	214552	C C	CCCTGCCA others(17): Show CCCTGCCAACAGACACCGGGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01358.hp2 HG02897.hp2 others(8): Show HG00408.hp2 HG01358.hp2 HG02897.hp2 NA18956.hp2 NA18964.hp2 NA18969.hp2 NA18991.hp2 NA18995.hp1 NA19067.hp2 NA19083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0031 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0002t0002g0003	11	149	0.0738	24	c.42 others(35): Show c.4258_*4259insAGCAGCCCGGTGTCTGTTGGCAGG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3591		chr2	TogoVar
SH3YL1_chr2_213144_269032	215327	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	43	0.0233	24	c.34 others(35): Show c.3483_*3484insGTGTGTGTGTGTGTGTGTGTGTGT	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		2816		chr2	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0254 a0001c0003t0004g0254	1	88	0.0114	24	c.576 others(41): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar

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