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
SEPTIN9_chr17_77276499_77505593	77485084	G G	GGGGTGAT others(24): Show GGGGTGATGGTGGTGATTGTGATGGTGGTGAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0109 a0001c0001t0018g0117 a0001c0001t0018g0109 a0001c0001t0018g0117	2	148	0.0135	31	c.914 others(48): Show c.914-2338_914-2337insGTGATGGTGGTGATTGTGATGGTGGTGA TGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485084	G G	GGGGTGAT others(24): Show GGGGTGATGGTGGTGATTGTGATGGTGGTGAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0088 a0001c0001t0014g0089 a0001c0001t0014g0088 a0001c0001t0014g0089	2	156	0.0128	31	c.860 others(48): Show c.860-2338_860-2337insGTGATGGTGGTGATTGTGATGGTGGTGA TGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169341	C C	CGTATATT others(24): Show CGTATATTATATATAATACATATATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA19078.hp2 HG02083.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0030 a0001c0002t0003g0025 a0001c0002t0003g0030	2	342	0.0058	31	c.-12 others(42): Show c.-1234_-1204dupATATTATATATATGTATTATATATAATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1080		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169371	A A	ATGTATAT others(24): Show ATGTATATTATATATTATATATAATATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18995.hp1 HG02735.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0003 a0001c0001t0005 a0001c0002t0003	a0001c0001t0005g0003 a0001c0002t0003g0012 a0001c0001t0005g0003 a0001c0002t0003g0012	2	364	0.0055	31	c.-12 others(42): Show c.-1264_-1234dupATATAATATTATATATAATATATAATATACA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1110		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169766	A A	ATATATTA others(24): Show ATATATTATATAATATATTGTATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	344	0.0029	31	c.-16 others(42): Show c.-1629_-1628insATATATAATATACAATATATTATATAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1505		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0190 a0001c0001t0046g0190	1	95	0.0105	31	c.92 others(42): Show c.9279_*9280insATATATATATATATATATATATATATTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0304 a0002c0002t0002g0304	1	120	0.0083	31	c.533 others(46): Show c.533+799_533+800insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	58	0.0172	31	c.37 others(42): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03130.hp1 NA18974.hp1 HG01074.hp2 HG03130.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0066 a0001c0001t0002g0088 a0001c0001t0002g0048 a0001c0001t0002g0066 a0001c0001t0002g0088	3	72	0.0417	31	c.760 others(44): Show c.760-23_760-22insATATATATATATATATATTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	70	0.0143	31	c.760 others(44): Show c.760-23_760-22insATATATATATATATATATATTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	171	0.0058	31	c.889 others(46): Show c.889+590_889+591insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SETD1B_chr12_121799009_121837656	121835008	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0019 a0019	a0019c0049 a0019c0049	a0019c0049t0001 a0019c0049t0001	a0019c0049t0001g0116 a0019c0049t0001g0116	1	260	0.0038	31	c.47 others(42): Show c.4769_*4770insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2353		chr12	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01496.hp1 HG01515.hp2 others(6): Show HG01069.hp2 HG01496.hp1 HG01515.hp2 HG02698.hp1 HG03130.hp2 NA18952.hp1 NA18968.hp2 NA19079.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0138	9	33	0.2727	31	c.676 others(48): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18980.hp1 HG04228.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0228 a0001c0002t0002g0145 a0001c0001t0001g0228 a0001c0002t0002g0145	2	13	0.1538	31	c.495 others(46): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31612392	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0061 a0002c0002t0005g0061	1	282	0.0035	31	c.249 others(48): Show c.2490+552_2490+553insTATATATATATATATATATATATATATA TAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02109.hp1 HG03486.hp1 others(1): Show HG01070.hp2 HG02109.hp1 HG03486.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0052	4	121	0.0331	31	c.124 others(48): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	33	0.0303	31	c.240 others(50): Show c.2409-2671_2409-2670insATATATATATATATATATATATATAT ATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17			chr12	TogoVar
SFXN5_chr2_72937036_73076712	73047245	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02074.hp2 NA19011.hp2 HG00642.hp1 HG02074.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0134	3	104	0.0288	31	c.172 others(48): Show c.172-6315_172-6314insGTGTATATATATATATATATATATATAT ATT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73059033	C C	CCAGCTCT others(24): Show CCAGCTCTGCCTCCAGGGGGGATCCCCAAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show HG00735.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp2 HG01261.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009	a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 others(7): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0003t0006 a0001c0003t0017 a0001c0004t0005 a0001c0006t0007 a0001c0009t0004	a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0093 a0001c0002t0003g0020 a0001c0002t0003g0025 a0001c0002t0003g0031 a0001c0002t0008g0028 a0001c0002t0009g0012 a0001c0002t0012g0026 a0001c0002t0012g0094 a0001c0003t0006g0017 a0001c0003t0006g0018 a0001c0003t0006g0019 a0001c0003t0006g0021 a0001c0003t0017g0023 a0001c0004t0005g0092 a0001c0006t0007g0024 a0001c0009t0004g0027	20	248	0.0806	31	c.103 others(46): Show c.103-468_103-438dupCCCTTGGGGATCCCCCCTGGAGGCAGAGCT G	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	1/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	73	0.0137	31	c.192 others(48): Show c.192+5570_192+5571insATATATATATATATATATATATATATAT ATA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCD_chr5_156322164_156772788	156737830	T T	TGCTAGTC others(24): Show TGCTAGTCCAACCCTCTCATTGTATACAGGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02083.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0122 a0001c0001t0038g0044 a0001c0001t0001g0122 a0001c0001t0038g0044	2	148	0.0135	31	c.576 others(50): Show c.576-19750_576-19720dupGCTAGTCCAACCCTCTCATTGTATAC AGGAG	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23314408	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0140 a0001c0001t0007g0140	1	351	0.0028	31	c.579 others(48): Show c.579-6229_579-6228insTATATATATATATATATATATATATATA TAT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7			chr13	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0070 a0002c0002t0007g0070	1	81	0.0123	31	c.547 others(50): Show c.547+17689_547+17690insATTATTATTATTATTATTTTTTTTTT TTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551480	T T	TATAATAT others(24): Show TATAATATATATTATATATATTATATATAATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	86	0.0116	31	c.234 others(48): Show c.234+3251_234+3252insTATTATATATAATATATATAATATATAT TAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14821076	A A	AACCCACT others(24): Show AACCCACTAACTCTGATCTTAAAAAAATAAGG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	102	0.0098	31	c.40- others(50): Show c.40-266151_40-266150insCCTTATTTTTTTAAGATCAGAGTTAG TGGGT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66643097	A A	ACAACTGG others(24): Show ACAACTGGGGAAATGGTGGGTACTGAGCTGTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp2 HG02451.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0206 a0001c0001t0004g0205 a0001c0001t0002g0206 a0001c0001t0004g0205	2	35	0.0571	31	c.283 others(46): Show c.283+234_283+235insAACTGGGGAAATGGTGGGTACTGAGCTGTC C	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66643097	A A	ACAACTGT others(24): Show ACAACTGTGGAAATGGTGGGTACTGAGCTGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0004 a0001c0007 others(12): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0013 a0001c0014 a0002c0002 a0002c0003 a0002c0006 a0004c0009 a0005c0010 a0006c0011 a0007c0016 a0008c0017 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0004t0001 a0001c0004t0051 a0001c0007t0004 a0001c0008t0002 a0001c0013t0004 a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0016 a0002c0002t0018 a0002c0002t0029 a0002c0002t0030 a0002c0002t0035 a0002c0002t0039 a0002c0002t0040 a0002c0002t0047 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0025 a0002c0003t0026 a0002c0003t0041 a0002c0003t0042 a0002c0003t0043 a0002c0003t0048 a0002c0006t0002 a0004c0009t0001 a0005c0010t0003 a0006c0011t0027 a0007c0016t0017 a0008c0017t0002 a0009c0015t0001	a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0067 others(262): Show a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0100 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0182 a0001c0001t0002g0191 a0001c0001t0002g0264 a0001c0001t0002g0278 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0003g0026 a0001c0001t0003g0038 a0001c0001t0003g0049 a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0197 a0001c0001t0004g0002 a0001c0001t0004g0020 a0001c0001t0006g0251 a0001c0001t0007g0165 a0001c0001t0007g0207 a0001c0001t0007g0255 a0001c0001t0008g0157 a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0105 a0001c0001t0009g0106 a0001c0001t0009g0107 a0001c0001t0010g0072 a0001c0001t0010g0132 a0001c0001t0010g0138 a0001c0001t0010g0142 a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0053 a0001c0001t0016g0184 a0001c0001t0017g0114 a0001c0001t0018g0001 a0001c0001t0019g0093 a0001c0001t0019g0094 a0001c0001t0020g0258 a0001c0001t0020g0302 a0001c0001t0024g0098 a0001c0001t0028g0238 a0001c0001t0031g0074 a0001c0001t0032g0042 a0001c0001t0033g0297 a0001c0001t0034g0194 a0001c0001t0036g0007 a0001c0001t0037g0073 a0001c0001t0038g0040 a0001c0001t0044g0170 a0001c0001t0045g0267 a0001c0001t0049g0104 a0001c0001t0050g0167 a0001c0001t0052g0257 a0001c0004t0001g0010 a0001c0004t0001g0015 a0001c0004t0001g0059 a0001c0004t0001g0064 a0001c0004t0001g0087 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0261 a0001c0004t0051g0009 a0001c0007t0004g0115 a0001c0007t0004g0118 a0001c0007t0004g0119 a0001c0007t0004g0120 a0001c0008t0002g0195 a0001c0008t0002g0196 a0001c0013t0004g0099 a0001c0014t0001g0088 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0252 a0002c0002t0001g0275 a0002c0002t0001g0289 a0002c0002t0002g0139 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0136 a0002c0002t0003g0166 a0002c0002t0003g0198 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0268 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0279 a0002c0002t0003g0281 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0287 a0002c0002t0003g0288 a0002c0002t0003g0290 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0296 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0004g0109 a0002c0002t0004g0121 a0002c0002t0004g0122 a0002c0002t0004g0124 a0002c0002t0004g0125 a0002c0002t0004g0126 a0002c0002t0004g0199 a0002c0002t0004g0200 a0002c0002t0007g0249 a0002c0002t0007g0250 a0002c0002t0007g0253 a0002c0002t0007g0256 a0002c0002t0016g0254 a0002c0002t0018g0123 a0002c0002t0029g0112 a0002c0002t0030g0269 a0002c0002t0035g0127 a0002c0002t0039g0280 a0002c0002t0040g0295 a0002c0002t0047g0286 a0002c0003t0001g0134 a0002c0003t0003g0145 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0004g0154 a0002c0003t0004g0155 a0002c0003t0004g0204 a0002c0003t0005g0130 a0002c0003t0005g0131 a0002c0003t0005g0137 a0002c0003t0025g0262 a0002c0003t0026g0156 a0002c0003t0041g0113 a0002c0003t0042g0146 a0002c0003t0043g0190 a0002c0003t0048g0214 a0002c0006t0002g0208 a0002c0006t0002g0209 a0002c0006t0002g0210 a0002c0006t0002g0211 a0002c0006t0002g0212 a0004c0009t0001g0192 a0004c0009t0001g0193 a0005c0010t0003g0242 a0005c0010t0003g0243 a0006c0011t0027g0149 a0007c0016t0017g0097 a0008c0017t0002g0011 a0009c0015t0001g0111	265	298	0.8893	31	c.283 others(46): Show c.283+234_283+235insAACTGTGGAAATGGTGGGTACTGAGCTGTC C	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660043	G G	GAAGGAAG others(24): Show GAAGGAAGGAAGGAAGGAAAGAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02165.hp1 HG03209.hp1 others(7): Show HG00099.hp1 HG02165.hp1 HG03209.hp1 HG03225.hp2 HG03688.hp1 NA18948.hp2 NA18950.hp1 NA18972.hp2 NA19058.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 a0001c0004t0051	a0001c0001t0001g0090 a0001c0001t0001g0140 a0001c0001t0001g0172 others(7): Show a0001c0001t0001g0090 a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0009g0107 a0001c0004t0001g0010 a0001c0004t0051g0009	10	238	0.0420	31	c.460 others(46): Show c.460-468_460-467insGGAAGGAAGGAAGGAAAGAAAAAGAAAGAA A	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(24): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03516.hp2 HG02896.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0246 a0001c0001t0002g0114 a0001c0001t0001g0246 a0001c0001t0002g0114	2	64	0.0313	31	c.286 others(50): Show c.286-24983_286-24982insTTCTTTCTCTCTCTCTCTCTTTCTTT CTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(24): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03098.hp2 HG03130.hp2 HG01952.hp1 HG03098.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0076 a0001c0001t0001g0125 a0001c0001t0002g0171 a0001c0001t0001g0076 a0001c0001t0001g0125 a0001c0001t0002g0171	3	65	0.0462	31	c.286 others(50): Show c.286-24983_286-24982insTTCTCTCTCTCTCTCTCTCTTTCTTT CTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134273592	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	47	0.0213	31	c.70- others(48): Show c.70-11445_70-11444insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134317204	A A	AGGGGGGG others(24): Show AGGGGGGGTGGGGGGGGGGGGGTATTAGGACT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	248	0.0040	31	c.69+ others(44): Show c.69+187_69+188insAGTCCTAATACCCCCCCCCCCCCACCCCCCC	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02922.hp1 others(2): Show HG02647.hp1 HG02895.hp1 HG02922.hp1 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0043 others(2): Show a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0043 a0001c0002t0003g0018 a0001c0002t0003g0020	5	67	0.0746	31	c.-12 others(52): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG06807.hp1 HG02027.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0037 a0001c0002t0001g0073 a0001c0001t0002g0037 a0001c0002t0001g0073	2	118	0.0169	31	c.-23 others(52): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG03225.hp1 HG03453.hp2 HG02083.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0035 a0001c0007t0010 a0001c0001t0007 a0001c0001t0035 a0001c0007t0010	a0001c0001t0007g0108 a0001c0001t0035g0044 a0001c0007t0010g0159 a0001c0001t0007g0108 a0001c0001t0035g0044 a0001c0007t0010g0159	3	50	0.0600	31	c.-23 others(42): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM2_chr17_2332501_2386054	2370493	G G	GGCCTCTG others(24): Show GGCCTCTGTGCCCAGCCACCACCCCCATCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00621.hp1 others(47): Show HG00099.hp1 HG00558.hp1 HG00621.hp1 HG01099.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18952.hp2 NA18954.hp1 NA18973.hp2 NA18979.hp2 NA18990.hp2 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0018 a0024	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0002c0041 a0002c0046 a0004c0011 a0018c0035 a0024c0021	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016 a0001c0005t0002 a0002c0002t0002 a0002c0002t0023 a0002c0004t0001 a0002c0041t0001 a0002c0046t0020 a0004c0011t0001 a0018c0035t0001 a0024c0021t0001	a0001c0001t0001g0079 a0001c0001t0001g0118 a0001c0001t0002g0023 others(45): Show a0001c0001t0001g0079 a0001c0001t0001g0118 a0001c0001t0002g0023 a0001c0003t0001g0052 a0001c0003t0001g0105 a0001c0003t0001g0190 a0001c0003t0001g0223 a0001c0003t0001g0256 a0001c0003t0001g0291 a0001c0003t0001g0305 a0001c0003t0001g0322 a0001c0003t0001g0335 a0001c0003t0001g0344 a0001c0003t0001g0345 a0001c0003t0001g0349 a0001c0003t0001g0351 a0001c0003t0001g0353 a0001c0003t0001g0360 a0001c0003t0001g0361 a0001c0003t0001g0362 a0001c0003t0001g0370 a0001c0003t0001g0371 a0001c0003t0001g0372 a0001c0003t0001g0376 a0001c0003t0001g0377 a0001c0003t0001g0383 a0001c0003t0001g0384 a0001c0003t0001g0390 a0001c0003t0002g0005 a0001c0003t0002g0109 a0001c0003t0002g0250 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0378 a0001c0003t0016g0264 a0001c0005t0002g0005 a0001c0005t0002g0014 a0001c0005t0002g0082 a0001c0005t0002g0270 a0002c0002t0002g0099 a0002c0002t0023g0135 a0002c0004t0001g0308 a0002c0041t0001g0309 a0002c0046t0020g0155 a0004c0011t0001g0151 a0004c0011t0001g0382 a0018c0035t0001g0298 a0024c0021t0001g0170	50	420	0.1190	31	c.142 others(48): Show c.1424-748_1424-747insCCCCATCCCCGCCTCTGTGCCCAGCCAC CAC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp2 NA19240.hp1 HG03453.hp1 HG03486.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0254 a0001c0001t0001g0256 a0004c0004t0001g0257 a0001c0001t0001g0254 a0001c0001t0001g0256 a0004c0004t0001g0257	3	95	0.0316	31	c.-29 others(48): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D1A_chrX_124341563_124378160	124350370	A A	AATATATA others(24): Show AATATATAATATATAAATATATATTATATACT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19063.hp1 HG03831.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0191 a0001c0001t0002g0243 a0001c0001t0001g0191 a0001c0001t0002g0243	2	269	0.0074	31	c.137 others(48): Show c.137+3731_137+3761dupATATATATTATATACTATATATAATATA TAA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 NA19082.hp1 HG03927.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0032 a0002c0002t0001g0004 a0002c0002t0001g0032	2	255	0.0078	31	c.-30 others(42): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3D19_chr4_151115281_151330605	151316607	T T	TCCCTTGG others(24): Show TCCCTTGGTATAACTTGGAACAAATTTTTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0278 a0002c0003t0003g0278	1	280	0.0036	31	c.112 others(48): Show c.112+8633_112+8634insGAAAAAAATTTGTTCCAAGTTATACCAA GGG	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19030.hp1 HG01256.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0002t0001g0051 a0001c0001t0001g0051 a0001c0002t0001g0051	2	33	0.0606	31	c.769 others(48): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL2_chr9_17574066_17802124	17614295	G G	GGAAAAAA others(24): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	57	0.0175	31	c.45+ others(48): Show c.45+35008_45+35009insGAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8			chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17796492	T T	TTAAATTT others(24): Show TTAAATTTCTTGCTATACAGAAACTATGTATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03942.hp1 HG04184.hp1 others(1): Show HG03017.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0143 a0001c0001t0007g0165 others(1): Show a0001c0001t0007g0097 a0001c0001t0007g0143 a0001c0001t0007g0165 a0001c0001t0007g0173	4	258	0.0155	31	c.75 others(40): Show c.752_*782dupAATTTCTTGCTATACAGAAACTATGTATGTA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	9/9	783	INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	102	0.0098	31	c.570 others(46): Show c.570+488_570+489insAAAAAAATATATATATATATATATATATAT A	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0099 a0001c0001t0007g0099	1	102	0.0098	31	c.570 others(46): Show c.570+488_570+489insATATATATATATATATATATATATATATAT A	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19567551	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	159	0.0063	31	c.138 others(50): Show c.1384+1551_1384+1552insATATATATATATATATATATATATAT ATATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	83	0.0120	31	c.4+1 others(46): Show c.4+13238_4+13239insATATATATATATATATATATATATTTTTTT T	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	83	0.0120	31	c.4+1 others(46): Show c.4+13238_4+13239insATATATATATATATATATATATATATATTT T	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	83	0.0120	31	c.4+1 others(46): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT A	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3RF3_chr2_109124205_109509634	109199495	G G	GAATGGAA others(24): Show GAATGGAATGGAATGGAATGGAATGGAATGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	157	0.0064	31	c.573 others(50): Show c.573+69383_573+69384insATGGAATGGAATGGAATGGAATGGAA TGGAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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