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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SH3KBP1_chrX_19528977_19892600	19873273	CATATATA others(13): Show CATATATATATATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	197	0.0051	-20	c.4+1 others(35): Show c.4+14014_4+14033delATACATATATATATATATAT		SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17						chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19887601	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03831.hp2 HG02486.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0133 a0001c0003t0002g0041 a0001c0001t0001g0133 a0001c0003t0002g0041	2	20	0.1000	-20	c.-31 others(29): Show c.-311_-292delTTTTTTTTTTTTTTTTTTTT		SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding					2		chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103639450	AAATACAA others(13): Show AAATACAAAAGTTAGCTGGGC	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0085 a0001c0003t0033g0085	1	248	0.0040	-20	c.605 others(39): Show c.605-12268_605-12249delGCCCAGCTAACTTTTGTATT		SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	8/14						chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103769134	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01106.hp1 others(6): Show HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01978.hp2 HG02647.hp1 HG02647.hp2 HG03486.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0024 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0024 a0001c0001t0107 a0001c0002t0050 a0001c0004t0020 a0001c0005t0016	a0001c0001t0003g0105 a0001c0001t0005g0147 a0001c0001t0024g0172 others(6): Show a0001c0001t0003g0105 a0001c0001t0005g0147 a0001c0001t0024g0172 a0001c0001t0107g0158 a0001c0002t0050g0124 a0001c0004t0020g0104 a0001c0004t0020g0118 a0001c0004t0020g0183 a0001c0005t0016g0242	9	42	0.2143	-20	c.154 others(37): Show c.154-1985_154-1966delCACACACACACACACACACA		SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	2/14						chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348654	CCTATCTA others(13): Show CCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0012 a0001c0005t0015g0012	1	232	0.0043	-20	c.101 others(39): Show c.1013-1342_1013-1323delATAGATAGATAGATAGATAG		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12						chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172373580	GCATCCAT others(13): Show GCATCCATCCATCCATCCATC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19043.hp2 HG02055.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0036 a0001c0001t0002g0039	2	115	0.0174	-20	c.427 others(35): Show c.427+190_427+209delGATGGATGGATGGATGGATG		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12						chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172390815	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp2 NA20805.hp1 HG00323.hp1 HG01943.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0060 a0001c0001t0002g0133 a0001c0001t0016g0135 a0001c0001t0001g0060 a0001c0001t0002g0133 a0001c0001t0016g0135	3	34	0.0882	-20	c.309 others(37): Show c.309+3728_309+3747delCACACACACACACACACACA		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	4/12						chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439070	CTCTACTA others(13): Show CTCTACTAAAAATACAAAAAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0187 a0001c0002t0045g0187	1	278	0.0036	-20	c.75+ others(37): Show c.75+15188_75+15207delATTTTTGTATTTTTAGTAGA		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12						chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439261	AAACAAAA others(13): Show AAACAAAAACAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0026 a0001c0001t0049g0026	1	275	0.0036	-20	c.75+ others(37): Show c.75+14997_75+15016delGTTTTGTTTTTGTTTTTGTT		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12						chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169187516	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	4	0.2500	-20	c.394 others(39): Show c.394-30857_394-30838delCACACACACACACACACACA		SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11						chr4	TogoVar
SH3RF2_chr5_145931578_146068292	145986002	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp1 HG02145.hp1 others(30): Show HG01934.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0013 a0014	a0001c0001 a0001c0011 a0002c0002 others(4): Show a0001c0001 a0001c0011 a0002c0002 a0004c0006 a0006c0007 a0013c0018 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0002c0002t0001 a0004c0006t0001 a0006c0007t0001 a0013c0018t0001 a0014c0017t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 others(30): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0202 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0097 a0001c0001t0002g0249 a0001c0011t0001g0071 a0001c0011t0001g0157 a0002c0002t0001g0089 a0002c0002t0001g0100 a0004c0006t0001g0083 a0004c0006t0001g0131 a0006c0007t0001g0092 a0006c0007t0001g0093 a0006c0007t0001g0094 a0006c0007t0001g0095 a0013c0018t0001g0091 a0014c0017t0001g0245	33	85	0.3882	-20	c.379 others(39): Show c.379-14031_379-14012delAAATAAATAAATAAATAAAT		SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146002469	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02809.hp2 HG03669.hp2 others(2): Show HG00140.hp2 HG02809.hp2 HG03669.hp2 HG04228.hp2 NA18985.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0016c0020	a0001c0001t0002 a0001c0011t0001 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0011t0001 a0002c0002t0001 a0016c0020t0001	a0001c0001t0002g0137 a0001c0011t0001g0071 a0002c0002t0001g0006 others(2): Show a0001c0001t0002g0137 a0001c0011t0001g0071 a0002c0002t0001g0006 a0002c0002t0001g0154 a0016c0020t0001g0257	5	51	0.0980	-20	c.649 others(37): Show c.649-1539_649-1520delAGGAAGGAAGGAAGGAAGGA		SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146057950	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0248 a0001c0001t0001g0250	2	270	0.0074	-20	c.155 others(39): Show c.1555+1741_1555+1760delCTCTCTCTCTCTCTCTATCT		SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146057954	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATCTA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	270	0.0037	-20	c.155 others(39): Show c.1555+1745_1555+1764delCTCTCTCTCTCTATCTATCT		SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064656	GAGAGAAA others(13): Show GAGAGAAAGAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	195	0.0051	-20	c.19 others(31): Show c.1956_*1975delAGAGAAAGAGAAAGAAAGAA		SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding					1365		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109170224	CTTCTCTT others(13): Show CTTCTCTTCTCTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02165.hp2 HG02647.hp2 HG02074.hp2 HG02165.hp2 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0006 a0001c0001t0007 a0003c0006t0030 a0001c0001t0006 a0001c0001t0007 a0003c0006t0030	a0001c0001t0006g0060 a0001c0001t0007g0145 a0003c0006t0030g0061 a0001c0001t0006g0060 a0001c0001t0007g0145 a0003c0006t0030g0061	3	172	0.0174	-20	c.573 others(39): Show c.573+40126_573+40145delTTTCTTTTCTCTTCTCTTCT		SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109170239	TTTCTTTT others(13): Show TTTCTTTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp2 HG01192.hp2 others(15): Show HG01099.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG02257.hp1 HG02559.hp2 HG02622.hp1 HG02818.hp1 HG03130.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp1 NA18950.hp1 NA18983.hp2 NA19002.hp2 NA19009.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0001c0014 a0001c0016 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0053 a0001c0001t0060 a0001c0003t0001 a0001c0007t0002 a0001c0010t0027 a0001c0014t0066 a0001c0016t0003 a0002c0002t0001 a0002c0002t0004	a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0120 others(15): Show a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0003g0112 a0001c0001t0005g0041 a0001c0001t0007g0142 a0001c0001t0013g0053 a0001c0001t0018g0130 a0001c0001t0018g0133 a0001c0001t0053g0014 a0001c0001t0060g0132 a0001c0003t0001g0045 a0001c0007t0002g0105 a0001c0010t0027g0018 a0001c0014t0066g0066 a0001c0016t0003g0102 a0002c0002t0001g0156 a0002c0002t0004g0163	18	87	0.2069	-20	c.573 others(39): Show c.573+40131_573+40150delTTTCTCTTCTCTTCTCTTCT		SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109170244	TTTCTCTT others(13): Show TTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02280.hp2 NA18906.hp1 HG00423.hp1 HG02280.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0014 a0001c0003t0020 a0002c0002t0013 a0001c0003t0014 a0001c0003t0020 a0002c0002t0013	a0001c0003t0014g0078 a0001c0003t0020g0077 a0002c0002t0013g0166 a0001c0003t0014g0078 a0001c0003t0020g0077 a0002c0002t0013g0166	3	125	0.0240	-20	c.573 others(39): Show c.573+40183_573+40202delTCTCTTCTCTTCTCTTCTCT		SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109238449	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00639.hp1 others(23): Show HG00438.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01928.hp2 HG02027.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02897.hp1 HG03130.hp1 HG03239.hp1 NA18964.hp1 NA18975.hp1 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0018 a0002c0002 a0002c0013 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0024 a0001c0001t0047 a0001c0001t0054 a0001c0001t0058 a0001c0001t0067 a0001c0003t0003 a0001c0005t0070 a0001c0008t0019 a0001c0018t0040 a0002c0002t0001 a0002c0013t0033 a0003c0006t0003	a0001c0001t0001g0054 a0001c0001t0002g0070 a0001c0001t0002g0096 others(23): Show a0001c0001t0001g0054 a0001c0001t0002g0070 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0100 a0001c0001t0003g0124 a0001c0001t0007g0145 a0001c0001t0008g0011 a0001c0001t0011g0091 a0001c0001t0012g0148 a0001c0001t0015g0125 a0001c0001t0024g0141 a0001c0001t0047g0046 a0001c0001t0054g0107 a0001c0001t0058g0086 a0001c0001t0067g0087 a0001c0003t0003g0085 a0001c0005t0070g0097 a0001c0008t0019g0069 a0001c0018t0040g0065 a0002c0002t0001g0165 a0002c0013t0033g0168 a0003c0006t0003g0095	26	32	0.8125	-20	c.573 others(41): Show c.573+108367_573+108386delTGTGTGTGTGTGTGTGTGTG		SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109495477	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0111 a0001c0005t0017g0111	1	37	0.0270	-20	c.248 others(39): Show c.2480+4554_2480+4573delTTTTTTTTTTTTTTTTTTTT		SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC1_chr4_8194290_8246103	8211316	TCTCCCCC others(13): Show TCTCCCCCTCCCGGTGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	372	0.0027	-20	c.248 others(37): Show c.248-1383_248-1364delTCCCCCTCCCGGTGTCTCCC		SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC2_chr5_148977150_149068062	148979890	CTCTCCCC others(13): Show CTCTCCCCTTCTCTATCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp2 others(73): Show HG00099.hp1 HG00280.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01261.hp2 HG01515.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA20300.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0012 a0015	a0001c0002 a0001c0021 a0003c0010 others(3): Show a0001c0002 a0001c0021 a0003c0010 a0006c0015 a0012c0037 a0015c0025	a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 others(46): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0013 a0001c0002t0021 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0072 a0001c0002t0073 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0080 a0001c0002t0082 a0001c0002t0197 a0001c0002t0198 a0001c0002t0199 a0001c0002t0200 a0001c0002t0201 a0001c0002t0202 a0001c0002t0203 a0001c0002t0210 a0001c0021t0071 a0003c0010t0003 a0003c0010t0058 a0003c0010t0059 a0006c0015t0023 a0012c0037t0023 a0015c0025t0074	a0001c0002t0003g0003 a0001c0002t0003g0009 a0001c0002t0003g0054 others(59): Show a0001c0002t0003g0003 a0001c0002t0003g0009 a0001c0002t0003g0054 a0001c0002t0003g0128 a0001c0002t0005g0001 a0001c0002t0005g0045 a0001c0002t0005g0049 a0001c0002t0008g0012 a0001c0002t0008g0056 a0001c0002t0008g0057 a0001c0002t0013g0051 a0001c0002t0013g0053 a0001c0002t0013g0100 a0001c0002t0021g0006 a0001c0002t0024g0010 a0001c0002t0025g0048 a0001c0002t0025g0130 a0001c0002t0026g0011 a0001c0002t0047g0071 a0001c0002t0047g0092 a0001c0002t0048g0070 a0001c0002t0048g0093 a0001c0002t0049g0088 a0001c0002t0049g0290 a0001c0002t0055g0126 a0001c0002t0056g0133 a0001c0002t0057g0034 a0001c0002t0060g0025 a0001c0002t0061g0131 a0001c0002t0062g0132 a0001c0002t0063g0060 a0001c0002t0064g0081 a0001c0002t0065g0127 a0001c0002t0066g0055 a0001c0002t0067g0026 a0001c0002t0068g0052 a0001c0002t0069g0121 a0001c0002t0070g0033 a0001c0002t0072g0040 a0001c0002t0073g0129 a0001c0002t0075g0046 a0001c0002t0076g0047 a0001c0002t0077g0028 a0001c0002t0078g0200 a0001c0002t0079g0041 a0001c0002t0080g0032 a0001c0002t0082g0061 a0001c0002t0197g0086 a0001c0002t0198g0083 a0001c0002t0199g0084 a0001c0002t0200g0079 a0001c0002t0201g0082 a0001c0002t0202g0090 a0001c0002t0203g0080 a0001c0002t0210g0212 a0001c0021t0071g0182 a0003c0010t0003g0277 a0003c0010t0058g0280 a0003c0010t0059g0281 a0006c0015t0023g0013 a0012c0037t0023g0066 a0015c0025t0074g0059	76	324	0.2346	-20	c.24 others(33): Show c.24801_*24820delAAGAGATAGAGAAGGGGAGA		SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding					2259		chr5	TogoVar
SH3TC2_chr5_148977150_149068062	148994600	ATGGTTGG others(13): Show ATGGTTGGTTGGTTGGTTGGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0168 a0001c0001t0168	a0001c0001t0168g0162 a0001c0001t0168g0162	1	31	0.0323	-20	c.10 others(33): Show c.10091_*10110delACCAACCAACCAACCAACCA		SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	17/17				10091		chr5	TogoVar
SHANK1_chr19_50654255_50724802	50707876	TTTTTCTT others(13): Show TTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00733.hp1 others(23): Show HG00438.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01106.hp2 HG01993.hp2 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02280.hp2 HG02559.hp1 HG02818.hp1 HG03017.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18951.hp2 NA18971.hp1 NA18971.hp2 NA19060.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0003c0006 a0009c0026	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0002t0030 a0001c0003t0006 a0001c0003t0012 a0001c0003t0023 a0001c0003t0111 a0001c0009t0004 a0002c0001t0002 a0002c0001t0024 a0002c0001t0046 a0002c0001t0049 a0002c0001t0070 a0003c0006t0001 a0003c0006t0012 a0003c0006t0108 a0009c0026t0061	a0001c0002t0001g0095 a0001c0002t0001g0261 a0001c0002t0002g0259 others(23): Show a0001c0002t0001g0095 a0001c0002t0001g0261 a0001c0002t0002g0259 a0001c0002t0003g0199 a0001c0002t0005g0258 a0001c0002t0010g0200 a0001c0002t0012g0135 a0001c0002t0014g0202 a0001c0002t0015g0139 a0001c0002t0030g0133 a0001c0002t0030g0243 a0001c0003t0006g0168 a0001c0003t0012g0070 a0001c0003t0023g0240 a0001c0003t0111g0314 a0001c0009t0004g0247 a0002c0001t0002g0159 a0002c0001t0002g0276 a0002c0001t0024g0245 a0002c0001t0046g0012 a0002c0001t0049g0024 a0002c0001t0070g0047 a0003c0006t0001g0246 a0003c0006t0012g0090 a0003c0006t0108g0309 a0009c0026t0061g0040	26	61	0.4262	-20	c.107 others(39): Show c.1078-3382_1078-3363delGAAAAGAAAAGAAAAGAAAA		SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23						chr19	TogoVar
SHANK1_chr19_50654255_50724802	50720465	CCACACAC others(13): Show CCACACACGCACGTGCGCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0096 a0001c0004t0096	a0001c0004t0096g0297 a0001c0004t0096g0297	1	314	0.0032	-20	c.-11 others(31): Show c.-1123_-1104delCGCGCGCACGTGCGTGTGTG		SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding					664		chr19	TogoVar
SHB_chr9_37910898_38074227	37920275	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02630.hp2 others(15): Show HG02055.hp1 HG02559.hp1 HG02630.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp1 HG04184.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18960.hp2 NA18968.hp1 NA18972.hp1 NA18978.hp1 NA19057.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0001c0017 others(2): Show a0001c0001 a0001c0005 a0001c0017 a0002c0009 a0004c0018	a0001c0001t0063 a0001c0005t0006 a0001c0005t0011 others(6): Show a0001c0001t0063 a0001c0005t0006 a0001c0005t0011 a0001c0005t0024 a0001c0005t0069 a0001c0005t0070 a0001c0017t0025 a0002c0009t0006 a0004c0018t0017	a0001c0001t0063g0234 a0001c0005t0006g0051 a0001c0005t0011g0046 others(15): Show a0001c0001t0063g0234 a0001c0005t0006g0051 a0001c0005t0011g0046 a0001c0005t0011g0054 a0001c0005t0011g0055 a0001c0005t0011g0056 a0001c0005t0024g0045 a0001c0005t0024g0067 a0001c0005t0069g0078 a0001c0005t0070g0071 a0001c0017t0025g0306 a0002c0009t0006g0030 a0002c0009t0006g0031 a0002c0009t0006g0032 a0002c0009t0006g0033 a0002c0009t0006g0035 a0004c0018t0017g0248 a0004c0018t0017g0249	18	76	0.2368	-20	c.134 others(37): Show c.1347-291_1347-272delGTTTTGTTTTGTTTTGTTTT		SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	5/5						chr9	TogoVar
SHB_chr9_37910898_38074227	37952339	ACATCTCT others(13): Show ACATCTCTGCAAAACAGGCAG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	328	0.0030	-20	c.122 others(39): Show c.1226+3524_1226+3543delCTGCCTGTTTTGCAGAGATG		SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	4/5						chr9	TogoVar
SHB_chr9_37910898_38074227	38071347	TGTGTGAG others(13): Show TGTGTGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0180 a0001c0003t0002g0180	1	316	0.0032	-20	c.-27 others(31): Show c.-2722_-2703delTCTCTCTCTCTCTCTCACAC		SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding					2121		chr9	TogoVar
SHC2_chr19_411589_466033	434359	CATGAGAT others(13): Show CATGAGATCGTGAGTGAGATG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	209	0.0048	-20	c.111 others(37): Show c.1110+330_1110+349delCATCTCACTCACGATCTCAT		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12						chr19	TogoVar
SHC2_chr19_411589_466033	443882	GTGGATGG others(13): Show GTGGATGGGTGGGTGGATGGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0002 a0011c0022t0002	a0011c0022t0002g0185 a0011c0022t0002g0185	1	210	0.0048	-20	c.469 others(37): Show c.469-2970_469-2951delTCCATCCACCCACCCATCCA		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC3_chr9_89000771_89183818	89182522	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG03471.hp2 others(2): Show HG01884.hp1 HG02451.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0003 a0001c0002t0005 a0001c0002t0029 others(2): Show a0001c0001t0003 a0001c0002t0005 a0001c0002t0029 a0001c0007t0003 a0001c0007t0018	a0001c0001t0003g0049 a0001c0002t0005g0050 a0001c0002t0029g0051 others(2): Show a0001c0001t0003g0049 a0001c0002t0005g0050 a0001c0002t0029g0051 a0001c0007t0003g0176 a0001c0007t0018g0175	5	45	0.1111	-20	c.-40 others(31): Show c.-4082_-4063delATTTTATTTTATTTTATTTT		SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding					3705		chr9	TogoVar
SHC4_chr15_48818741_48968919	48968538	AACACACA others(13): Show AACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(215): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0003c0010 a0003c0011 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0002t0004 a0001c0002t0007 a0001c0006t0001 a0001c0007t0002 a0002c0003t0001 a0002c0003t0003 a0002c0003t0013 a0002c0003t0027 a0003c0010t0002 a0003c0011t0007 a0004c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0041 others(214): Show a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0001g0348 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0002g0190 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0217 a0001c0001t0002g0227 a0001c0001t0002g0236 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0341 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0358 a0001c0001t0002g0362 a0001c0001t0002g0370 a0001c0001t0003g0063 a0001c0001t0003g0080 a0001c0001t0003g0096 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0241 a0001c0001t0003g0246 a0001c0001t0003g0271 a0001c0001t0003g0279 a0001c0001t0003g0297 a0001c0001t0003g0312 a0001c0001t0003g0320 a0001c0001t0003g0343 a0001c0001t0003g0350 a0001c0001t0003g0363 a0001c0001t0003g0365 a0001c0001t0004g0208 a0001c0001t0005g0057 a0001c0001t0005g0072 a0001c0001t0005g0109 a0001c0001t0005g0142 a0001c0001t0005g0260 a0001c0001t0005g0267 a0001c0001t0005g0274 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0301 a0001c0001t0006g0195 a0001c0001t0010g0112 a0001c0001t0013g0379 a0001c0001t0014g0005 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0118 a0001c0002t0004g0129 a0001c0002t0004g0131 a0001c0002t0004g0132 a0001c0002t0004g0218 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0004g0233 a0001c0002t0004g0248 a0001c0002t0004g0250 a0001c0002t0004g0251 a0001c0002t0004g0288 a0001c0002t0004g0317 a0001c0002t0004g0325 a0001c0002t0004g0342 a0001c0002t0004g0352 a0001c0002t0004g0366 a0001c0002t0004g0372 a0001c0002t0007g0226 a0001c0002t0007g0270 a0001c0006t0001g0228 a0001c0007t0002g0022 a0002c0003t0001g0095 a0002c0003t0003g0046 a0002c0003t0003g0111 a0002c0003t0003g0171 a0002c0003t0003g0187 a0002c0003t0003g0214 a0002c0003t0003g0240 a0002c0003t0003g0294 a0002c0003t0003g0304 a0002c0003t0003g0311 a0002c0003t0013g0380 a0002c0003t0027g0378 a0003c0010t0002g0242 a0003c0011t0007g0110 a0004c0005t0001g0219	218	237	0.9198	-20	c.-55 others(31): Show c.-5543_-5524delGTGTGTGTGTGTGTGTGTGT		SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding					4620		chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	125	0.0080	-20	c.118 others(39): Show c.1182+4926_1182+4945delTCTTTCTTTCTTTCTTTCTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0059 a0003c0006t0001g0059	1	66	0.0152	-20	c.118 others(39): Show c.1182+4692_1182+4711delTCTTTCTTTCTTTCTTTCTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01069.hp1 others(14): Show HG00558.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01175.hp1 HG01175.hp2 HG02004.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp2 HG03688.hp2 HG03704.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18999.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0089 a0001c0001t0001g0138 a0001c0001t0001g0142 others(14): Show a0001c0001t0001g0089 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0291 a0003c0006t0001g0056 a0003c0006t0001g0057 a0003c0006t0001g0058 a0003c0006t0001g0062 a0003c0006t0001g0063	17	25	0.6800	-20	c.118 others(39): Show c.1182+2577_1182+2596delTATATATATATATATATATA		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930547	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02451.hp2 others(18): Show HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0003c0008 a0001c0001 a0003c0006 a0003c0008	a0001c0001t0001 a0003c0006t0001 a0003c0008t0001 a0001c0001t0001 a0003c0006t0001 a0003c0008t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(18): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0101 a0001c0001t0001g0102 a0003c0006t0001g0059 a0003c0006t0001g0060 a0003c0008t0001g0052 a0003c0008t0001g0053 a0003c0008t0001g0054 a0003c0008t0001g0055	21	218	0.0963	-20	c.107 others(37): Show c.1077-815_1077-796delTATATATATATATATACACA		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952156	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	269	0.0037	-20	c.405 others(35): Show c.405+553_405+572delTTTTTTTTTTTTTTTTTTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952175	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	297	0.0034	-20	c.405 others(35): Show c.405+534_405+553delATATTTTTTTTTTTTTTTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952187	AAAAAATA others(13): Show AAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0052 a0003c0008t0001g0052	1	292	0.0034	-20	c.405 others(35): Show c.405+522_405+541delATATATATATATATATTTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952189	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0055 a0003c0008t0001g0055	1	281	0.0036	-20	c.405 others(35): Show c.405+520_405+539delATATATATATATATATATTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9						chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46583150	ATTGCTGT others(13): Show ATTGCTGTCACACACCCACTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0083 a0001c0001t0001g0084	2	182	0.0110	-20	c.169 others(37): Show c.1693+346_1693+365delCAGTGGGTGTGTGACAGCAA		SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	12/12						chr16	TogoVar
SHD_chr19_4274266_4295722	4286222	CTTTCTTT others(13): Show CTTTCTTTCTTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	459	0.0022	-20	c.716 others(37): Show c.716+1319_716+1338delTTTCTTTCTTTTCTTTCTTT		SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	4/5						chr19	TogoVar
SHD_chr19_4274266_4295722	4286226	CTTTCTTT others(13): Show CTTTCTTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01496.hp1 others(5): Show HG00639.hp2 HG01361.hp2 HG01496.hp1 HG02602.hp2 NA18947.hp2 NA19067.hp1 NA19079.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0043 others(5): Show a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0043 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0002g0162 a0001c0001t0002g0189	8	381	0.0210	-20	c.716 others(37): Show c.716+1323_716+1342delTTTCTTTTCTTTCTTTCTTT		SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	4/5						chr19	TogoVar
SHE_chr1_154474481_154507412	154489352	AATTTCTG others(13): Show AATTTCTGAAAAACACACACC	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18983.hp2 NA19088.hp1 NA18983.hp2 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0033 a0003c0004t0001 a0003c0004t0033	a0003c0004t0001g0162 a0003c0004t0033g0123 a0003c0004t0001g0162 a0003c0004t0033g0123	2	380	0.0053	-20	c.719 others(30): Show c.719-16_722delGGTGTGTGTTTTTCAGAAAT	p.Glu others(5): Show p.Glu240fs	SHE	ENSG00000169291.10	transcript	ENST00000304760.3	protein_coding	3/6	1108/6542	719/1488	240/495			chr1	TogoVar
SHFL_chr19_10081317_10098243	10087819	TTGAATGA others(13): Show TTGAATGAATGAATGAATGAA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	131	0.0076	-20	c.195 others(35): Show c.195+542_195+561delAATGAATGAATGAATGAATG		SHFL	ENSG00000130813.18	transcript	ENST00000253110.16	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
SHISA6_chr17_11236213_11569063	11277268	TCTCTCTC others(13): Show TCTCTCTCTCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01169.hp1 others(5): Show HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG02886.hp2 HG03540.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0038 a0001c0001t0042 a0001c0003t0012 a0001c0008t0017	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0004g0054 others(5): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0004g0054 a0001c0001t0007g0002 a0001c0001t0038g0141 a0001c0001t0042g0071 a0001c0003t0012g0110 a0001c0008t0017g0066	8	187	0.0428	-20	c.799 others(39): Show c.799+13744_799+13763delTCTCTCTCTCTCACACACAC		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11388790	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	26	0.0385	-20	c.895 others(37): Show c.895+9313_895+9332delATATATATATATATATATAT		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11423326	TATAGATA others(13): Show TATAGATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	20	0.0500	-20	c.895 others(39): Show c.895+43841_895+43860delGATAGATAGATAGATAGATA		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11515313	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG00738.hp1 others(3): Show HG00423.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG02572.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0014 a0001c0001t0021 a0001c0002t0014 others(2): Show a0001c0001t0014 a0001c0001t0021 a0001c0002t0014 a0001c0002t0051 a0001c0011t0014	a0001c0001t0014g0013 a0001c0001t0014g0147 a0001c0001t0021g0132 others(3): Show a0001c0001t0014g0013 a0001c0001t0014g0147 a0001c0001t0021g0132 a0001c0002t0014g0191 a0001c0002t0051g0111 a0001c0011t0014g0171	6	55	0.1091	-20	c.896 others(39): Show c.896-36550_896-36531delAAGGAAGGAAGGAAGGAAGG		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11526880	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0077 a0002c0005t0009g0077	1	6	0.1667	-20	c.896 others(39): Show c.896-24979_896-24960delATATATATATATATATATAT		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr17	TogoVar

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