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
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02738.hp2 NA18940.hp2 others(3): Show HG01516.hp2 HG02738.hp2 NA18940.hp2 NA18946.hp1 NA18969.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0001t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0222 a0001c0001t0001g0289 a0001c0002t0002g0087 others(3): Show a0001c0001t0001g0222 a0001c0001t0001g0289 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0281 a0001c0002t0008g0136	6	17	0.3529	22	c.495 others(37): Show c.495+253_495+274dupTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31582204	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA21309.hp1 HG00280.hp1 NA21309.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0010 a0002c0002 a0010c0010	a0002c0002t0001 a0010c0010t0001 a0002c0002t0001 a0010c0010t0001	a0002c0002t0001g0096 a0010c0010t0001g0005 a0002c0002t0001g0096 a0010c0010t0001g0005	2	139	0.0144	22	c.124 others(41): Show c.1249-1670_1249-1669insATATATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	77	0.0130	22	c.124 others(41): Show c.1249-1638_1249-1637insATATATATATATATATATATTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0004 a0010c0010t0001g0004	1	77	0.0130	22	c.124 others(41): Show c.1249-1638_1249-1637insATATATATATATATATATTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02965.hp1 NA19004.hp2 HG02165.hp2 HG02965.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0006t0001g0149 a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0006t0001g0149	3	79	0.0380	22	c.124 others(41): Show c.1249-1638_1249-1637insATATATATATATATATTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612426	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	252	0.0040	22	c.249 others(39): Show c.2490+587_2490+588insTATATATATATATATATATAAA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01192.hp1 others(5): Show HG01074.hp2 HG01109.hp1 HG01192.hp1 HG02615.hp2 HG02738.hp1 NA18979.hp1 NA19079.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0188 others(5): Show a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0254 a0001c0001t0001g0259	8	125	0.0640	22	c.124 others(39): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(15): Show TAAAAAAAAAACAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0170	1	118	0.0085	22	c.124 others(39): Show c.124-1544_124-1543insGTTTGTTTTTTGTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53006628	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG03540.hp1 others(2): Show HG02486.hp1 HG02630.hp1 HG03540.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0002t0002g0312	5	286	0.0175	22	c.-13 others(43): Show c.-130-37371_-130-37370insTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18960.hp1 HG01981.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0007 a0001c0001t0002g0016	2	52	0.0385	22	c.-13 others(41): Show c.-131+4826_-131+4847dupAAAAAAAAAAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7186459	C C	CACACACA others(15): Show CACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	88	0.0114	22	c.180 others(41): Show c.1808+2164_1808+2165insATATATATATATATGTGTGTGT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	16/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7358678	T T	TTGGCCCT others(15): Show TTGGCCCTGGAATGGAGGCATGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01496.hp1 others(17): Show HG00738.hp1 HG01109.hp1 HG01496.hp1 HG01517.hp2 HG01993.hp2 HG02145.hp1 HG02148.hp1 HG02293.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03453.hp2 HG03490.hp2 NA18522.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0002t0002 a0001c0002t0026 a0001c0006t0006	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0072 others(17): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0113 a0001c0001t0002g0057 a0001c0001t0002g0122 a0001c0001t0003g0105 a0001c0001t0003g0141 a0001c0001t0004g0051 a0001c0001t0004g0076 a0001c0001t0009g0043 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0031g0032 a0001c0001t0034g0142 a0001c0001t0036g0082 a0001c0002t0002g0016 a0001c0002t0026g0071 a0001c0006t0006g0066	20	142	0.1408	22	c.436 others(39): Show c.436+8949_436+8970dupCCATGCCTCCATTCCAGGGCCA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7358686	G G	GGAATGGA others(15): Show GGAATGGAGGCATGGTGGCCCTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp1 HG01891.hp2 others(13): Show HG01255.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02258.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0004 a0004c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0003t0006 a0003c0004t0007 a0004c0009t0005	a0001c0001t0002g0039 a0001c0001t0004g0069 a0001c0001t0004g0121 others(13): Show a0001c0001t0002g0039 a0001c0001t0004g0069 a0001c0001t0004g0121 a0001c0001t0007g0068 a0001c0001t0009g0055 a0001c0001t0010g0045 a0001c0001t0013g0004 a0001c0001t0014g0060 a0001c0001t0016g0077 a0001c0001t0029g0107 a0001c0001t0030g0041 a0001c0002t0001g0036 a0001c0002t0002g0037 a0001c0003t0006g0014 a0003c0004t0007g0040 a0004c0009t0005g0046	16	142	0.1127	22	c.436 others(39): Show c.436+8962_436+8963insTAGGGCCACCATGCCTCCATTC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20			chr10	TogoVar
SFPQ_chr1_35177936_35198145	35192055	A A	AATCCCCC others(15): Show AATCCCCCGCCGACCGACGGCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19006.hp2 NA19081.hp2 HG00609.hp1 NA19006.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	3	378	0.0079	22	c.828 others(37): Show c.828+145_828+166dupGGGCCGTCGGTCGGCGGGGGAT	SFPQ	ENSG00000116560.12	transcript	ENST00000357214.6	protein_coding	1/9			chr1	TogoVar
SFRP2_chr4_153775591_153794083	153789505	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA19012.hp2 NA18998.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0002 a0001c0001t0001g0008	2	22	0.0909	22	c.-67 others(31): Show c.-671_-670insACACACACACACACACACACAC	SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding		423		chr4	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01071.hp2 HG01257.hp2 others(2): Show HG00673.hp2 HG01071.hp2 HG01257.hp2 HG02683.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0025 a0001c0001 a0001c0002 a0002c0025	a0001c0001t0001 a0001c0002t0001 a0002c0025t0004 a0001c0001t0001 a0001c0002t0001 a0002c0025t0004	a0001c0001t0001g0140 a0001c0002t0001g0283 a0001c0002t0001g0288 others(2): Show a0001c0001t0001g0140 a0001c0002t0001g0283 a0001c0002t0001g0288 a0001c0002t0001g0290 a0002c0025t0004g0042	5	37	0.1351	22	c.240 others(41): Show c.2409-2662_2409-2641dupTATATATATATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFT2D2_chr1_168221004_168258021	168226205	G G	GGCCTGGG others(15): Show GGCCTGGGAAGCCTGCGGGGACT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02622.hp2 others(1): Show HG00642.hp1 HG01884.hp2 HG02622.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0033 a0001c0001t0011 a0001c0001t0033	a0001c0001t0011g0025 a0001c0001t0033g0141 a0001c0001t0011g0025 a0001c0001t0033g0141	4	350	0.0114	22	c.63+ others(33): Show c.63+64_63+85dupGCCTGGGAAGCCTGCGGGGACT	SFT2D2	ENSG00000213064.10	transcript	ENST00000271375.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 NA20752.hp2 HG00280.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	224	0.0089	22	c.-13 others(33): Show c.-1391_-1390insTATATATATATATATATATTTT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFTPC_chr8_22156798_22169479	22161402	A A	AAATTCTG others(15): Show AAATTCTGCTGGGAAATATGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	464	0.0022	22	c.-42 others(31): Show c.-427_-426insAATTCTGCTGGGAAATATGATG	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		395		chr8	TogoVar
SFTPC_chr8_22156798_22169479	22165882	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02559.hp1 NA18975.hp2 others(3): Show HG02083.hp1 HG02559.hp1 NA18975.hp2 NA19000.hp1 NA19076.hp1 NA19084.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 a0005c0008t0001g0003	6	52	0.1154	22	c.16 others(33): Show c.1635_*1636insGTGTGTGTGTGTGTGTGTGTGT	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		1404		chr8	TogoVar
SFXN2_chr10_102709636_102748492	102739494	A A	AGAGTTGT others(15): Show AGAGTTGTAAAAGGGAACAACAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(193): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19076.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0003c0006 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0001t0035 a0001c0001t0038 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0002t0020 a0001c0004t0001 a0001c0005t0001 a0001c0005t0016 a0001c0008t0001 a0003c0006t0004 a0005c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(147): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0243 a0001c0001t0004g0006 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0097 a0001c0001t0004g0168 a0001c0001t0004g0178 a0001c0001t0004g0197 a0001c0001t0004g0209 a0001c0001t0006g0008 a0001c0001t0006g0033 a0001c0001t0006g0217 a0001c0001t0006g0233 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0248 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0285 a0001c0001t0007g0009 a0001c0001t0007g0024 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0012g0002 a0001c0001t0012g0161 a0001c0001t0012g0183 a0001c0001t0016g0166 a0001c0001t0016g0172 a0001c0001t0016g0212 a0001c0001t0022g0266 a0001c0001t0022g0267 a0001c0001t0035g0225 a0001c0001t0038g0007 a0001c0001t0052g0002 a0001c0001t0053g0193 a0001c0001t0054g0180 a0001c0001t0055g0002 a0001c0001t0056g0169 a0001c0001t0057g0002 a0001c0002t0020g0050 a0001c0002t0020g0146 a0001c0002t0020g0150 a0001c0004t0001g0123 a0001c0004t0001g0207 a0001c0005t0001g0002 a0001c0005t0001g0012 a0001c0005t0016g0214 a0001c0008t0001g0099 a0003c0006t0004g0019 a0005c0009t0001g0164	196	402	0.4876	22	c.17 others(33): Show c.1735_*1756dupGTTGTAAAAGGGAACAACAGGA	SFXN2	ENSG00000156398.13	transcript	ENST00000369893.10	protein_coding	12/12	1757	INFO_REALIGN_3_PRIME	chr10	TogoVar
SFXN4_chr10_119135767_119170714	119135791	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	5	0.2000	22	c.54 others(33): Show c.5429_*5450dupTTTTTTTTTTTTTTTTTTTTTT	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding		4975		chr10	TogoVar
SFXN5_chr2_72937036_73076712	73047255	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	248	0.0040	22	c.172 others(39): Show c.172-6325_172-6324insGTGTGTATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19010.hp2 HG00438.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0219 a0001c0002t0001g0206 a0001c0002t0001g0219	2	72	0.0278	22	c.171 others(39): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(15): Show GCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03704.hp1 HG02451.hp2 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0069 a0001c0002t0002g0011 a0001c0002t0002g0069	2	72	0.0278	22	c.171 others(39): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCGC others(15): Show GCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	71	0.0141	22	c.171 others(39): Show c.171+8139_171+8140insTGTGTGTGTGTGTGCGCGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050420	A A	ACACACAC others(15): Show ACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	239	0.0042	22	c.171 others(39): Show c.171+8107_171+8108insGGTGTGTGTGTGTGTGTGTGTG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156406018	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02559.hp2 HG02735.hp1 others(5): Show HG02071.hp1 HG02559.hp2 HG02735.hp1 HG03139.hp2 HG03225.hp2 NA18990.hp2 NA19043.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0009 a0001c0001t0033 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0033 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0004c0005t0001	a0001c0001t0001g0058 a0001c0001t0009g0049 a0001c0001t0009g0142 others(5): Show a0001c0001t0001g0058 a0001c0001t0009g0049 a0001c0001t0009g0142 a0001c0001t0033g0141 a0001c0002t0002g0109 a0001c0002t0005g0097 a0001c0002t0010g0001 a0004c0005t0001g0148	8	29	0.2759	22	c.192 others(41): Show c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156406790	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp2 NA18953.hp1 HG02630.hp1 HG02970.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0043 a0001c0002t0010 a0001c0002t0013 a0001c0001t0043 a0001c0002t0010 a0001c0002t0013	a0001c0001t0043g0139 a0001c0002t0010g0005 a0001c0002t0013g0030 a0001c0001t0043g0139 a0001c0002t0010g0005 a0001c0002t0013g0030	3	20	0.1500	22	c.192 others(41): Show c.192+62122_192+62143dupTATATATATATATATATATATA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156504392	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0053 a0001c0001t0048g0053	1	77	0.0130	22	c.193 others(39): Show c.193-4197_193-4176dupATATATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156679763	C C	CTTTCTTG others(15): Show CTTTCTTGCTTTTCTTCTCCACT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0011 a0001c0001t0027g0011	1	148	0.0068	22	c.575 others(41): Show c.575+32234_575+32255dupGCTTTTCTTCTCCACTTTTCTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23275120	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18977.hp2 HG04199.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0004 a0001c0005t0002 a0001c0003t0004 a0001c0005t0002	a0001c0003t0004g0203 a0001c0005t0002g0321 a0001c0003t0004g0203 a0001c0005t0002g0321	2	108	0.0185	22	c.386 others(39): Show c.386-4237_386-4216dupTATATATATATATATATATATA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23314382	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp2 others(11): Show HG00099.hp2 HG00408.hp1 HG00558.hp2 HG03041.hp2 HG03195.hp2 HG04184.hp1 NA18947.hp1 NA18957.hp2 NA18971.hp1 NA18971.hp2 NA18986.hp1 NA19030.hp2 NA19063.hp1 NA19074.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0003c0009	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0004t0003 a0002c0006t0003 a0002c0006t0022 a0003c0009t0001	a0001c0001t0001g0071 a0001c0001t0001g0187 a0001c0001t0001g0236 others(11): Show a0001c0001t0001g0071 a0001c0001t0001g0187 a0001c0001t0001g0236 a0001c0001t0001g0281 a0001c0001t0001g0310 a0001c0002t0001g0271 a0001c0003t0002g0204 a0001c0003t0004g0257 a0001c0003t0006g0055 a0001c0004t0003g0244 a0002c0006t0003g0224 a0002c0006t0022g0105 a0003c0009t0001g0238 a0003c0009t0001g0309	14	38	0.3684	22	c.579 others(39): Show c.579-6250_579-6229dupTATATATATATATATATATATA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23314382	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp2 HG02280.hp1 others(5): Show HG01106.hp2 HG01358.hp2 HG02280.hp1 HG03139.hp2 NA18942.hp1 NA18962.hp1 NA18983.hp2 NA19004.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0009	a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0003t0003 a0003c0009t0002	a0001c0001t0003g0168 a0001c0001t0007g0118 a0001c0002t0002g0017 others(5): Show a0001c0001t0003g0168 a0001c0001t0007g0118 a0001c0002t0002g0017 a0001c0002t0002g0053 a0001c0002t0002g0174 a0001c0003t0003g0123 a0003c0009t0002g0293 a0003c0009t0002g0294	8	32	0.2500	22	c.579 others(39): Show c.579-6254_579-6253insTTATATATATATATATATATAT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0038 a0002c0002t0004g0038	1	81	0.0123	22	c.547 others(41): Show c.547+17689_547+17690insATTATTATTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14493359	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01192.hp2 others(3): Show HG00738.hp2 HG01074.hp2 HG01192.hp2 HG02132.hp1 NA19056.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0001c0001t0057 a0001c0001t0066 a0001c0001t0079	a0001c0001t0001g0092 a0001c0001t0002g0095 a0001c0001t0030g0034 others(3): Show a0001c0001t0001g0092 a0001c0001t0002g0095 a0001c0001t0030g0034 a0001c0001t0057g0087 a0001c0001t0066g0099 a0001c0001t0079g0052	6	10	0.6000	22	c.234 others(41): Show c.234+61351_234+61372dupAAAAAAAAAAAAAAAAAAAAAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14645478	T T	TTATATAT others(15): Show TTATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG02630.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0028 a0001c0001t0012 a0001c0001t0028	a0001c0001t0012g0004 a0001c0001t0028g0006 a0001c0001t0012g0004 a0001c0001t0028g0006	2	77	0.0260	22	c.40- others(39): Show c.40-90553_40-90552insTAAATATATATATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14676346	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02004.hp1 NA21309.hp1 HG00438.hp2 HG02004.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0055 a0001c0001t0072 a0001c0001t0005 a0001c0001t0055 a0001c0001t0072	a0001c0001t0005g0090 a0001c0001t0055g0100 a0001c0001t0072g0066 a0001c0001t0005g0090 a0001c0001t0055g0100 a0001c0001t0072g0066	3	24	0.1250	22	c.40- others(41): Show c.40-121442_40-121421dupCACACACACACACACACACACA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14717996	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG03540.hp2 others(1): Show HG02630.hp1 HG02886.hp2 HG03540.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0001c0001t0050 a0001c0001t0064 others(1): Show a0001c0001t0012 a0001c0001t0050 a0001c0001t0064 a0002c0002t0009	a0001c0001t0012g0004 a0001c0001t0050g0045 a0001c0001t0064g0069 others(1): Show a0001c0001t0012g0004 a0001c0001t0050g0045 a0001c0001t0064g0069 a0002c0002t0009g0001	4	50	0.0800	22	c.40- others(41): Show c.40-163071_40-163070insATATATATATATATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14831788	G G	GTGTGTAC others(15): Show GTGTGTACACATACATGTATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00642.hp1 others(79): Show HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(69): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0002c0002t0004 a0002c0002t0007 a0003c0003t0043	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 others(79): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0095 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0005g0072 a0001c0001t0005g0090 a0001c0001t0006g0083 a0001c0001t0006g0091 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0010g0002 a0001c0001t0014g0024 a0001c0001t0015g0005 a0001c0001t0016g0022 a0001c0001t0017g0011 a0001c0001t0018g0037 a0001c0001t0019g0028 a0001c0001t0020g0025 a0001c0001t0021g0015 a0001c0001t0023g0029 a0001c0001t0024g0031 a0001c0001t0025g0021 a0001c0001t0026g0035 a0001c0001t0028g0006 a0001c0001t0029g0018 a0001c0001t0030g0034 a0001c0001t0031g0013 a0001c0001t0032g0016 a0001c0001t0034g0030 a0001c0001t0035g0014 a0001c0001t0036g0012 a0001c0001t0037g0032 a0001c0001t0038g0023 a0001c0001t0039g0036 a0001c0001t0040g0039 a0001c0001t0042g0040 a0001c0001t0044g0033 a0001c0001t0046g0017 a0001c0001t0047g0043 a0001c0001t0048g0051 a0001c0001t0049g0046 a0001c0001t0051g0074 a0001c0001t0052g0077 a0001c0001t0054g0058 a0001c0001t0055g0100 a0001c0001t0056g0062 a0001c0001t0057g0087 a0001c0001t0059g0056 a0001c0001t0060g0071 a0001c0001t0061g0049 a0001c0001t0062g0082 a0001c0001t0063g0094 a0001c0001t0064g0069 a0001c0001t0065g0047 a0001c0001t0067g0068 a0001c0001t0068g0064 a0001c0001t0069g0096 a0001c0001t0070g0081 a0001c0001t0071g0067 a0001c0001t0072g0066 a0001c0001t0074g0098 a0001c0001t0075g0044 a0001c0001t0076g0073 a0001c0001t0078g0093 a0001c0001t0079g0052 a0001c0001t0080g0089 a0001c0001t0082g0063 a0001c0001t0083g0057 a0001c0001t0085g0059 a0001c0001t0086g0078 a0001c0001t0088g0054 a0001c0001t0090g0084 a0001c0001t0091g0102 a0002c0002t0004g0027 a0002c0002t0004g0038 a0002c0002t0007g0048 a0003c0003t0043g0041	82	102	0.8039	22	c.40- others(41): Show c.40-276884_40-276863dupTATATACATGTATGTGTACACA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14831794	A A	ACACATAC others(15): Show ACACATACATGTATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02717.hp2 others(7): Show HG02109.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03540.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 others(7): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0027 a0001c0001t0038 a0001c0001t0045 a0001c0001t0058 a0001c0001t0073 a0001c0001t0087 a0002c0002t0009	a0001c0001t0012g0004 a0001c0001t0013g0026 a0001c0001t0022g0007 others(7): Show a0001c0001t0012g0004 a0001c0001t0013g0026 a0001c0001t0022g0007 a0001c0001t0027g0010 a0001c0001t0038g0023 a0001c0001t0045g0008 a0001c0001t0058g0097 a0001c0001t0073g0053 a0001c0001t0087g0088 a0002c0002t0009g0001	10	97	0.1031	22	c.40- others(41): Show c.40-276890_40-276869dupCACACATATATACATGTATGTG	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14860695	G G	GGAAAGAA others(15): Show GGAAAGAAAGAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0044 a0001c0001t0075g0044	1	98	0.0102	22	c.40- others(41): Show c.40-305770_40-305769insTTTCTTTCTTTCTCTTTCTTTC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15097888	G G	GTATATAT others(15): Show GTATATATATATACACGTGTATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0060 a0001c0001t0008g0061	2	44	0.0455	22	c.39+ others(41): Show c.39+139696_39+139697insTATACACGTGTATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15232682	T T	TATATATG others(15): Show TATATATGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0005 a0001c0001t0015g0005	1	86	0.0116	22	c.39+ others(37): Show c.39+4902_39+4903insGTATATATATACACACATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGF29_chr16_28548920_28596790	28564746	T T	TATATATA others(15): Show TATATATATGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02572.hp2 others(6): Show HG01109.hp1 HG01884.hp2 HG02572.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03209.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0273 a0001c0002t0002g0004 a0001c0002t0002g0270 others(3): Show a0001c0001t0002g0273 a0001c0002t0002g0004 a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275	9	253	0.0356	22	c.-16 others(41): Show c.-16+10665_-16+10666insATATACATATATATGTATATAT	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGF29_chr16_28548920_28596790	28564754	T T	TGTATATA others(15): Show TGTATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0269 a0001c0002t0002g0269	1	343	0.0029	22	c.-16 others(41): Show c.-16+10665_-16+10666insATATACATATATACGTATATAT	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGIP1_chr1_66529153_66756139	66589214	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0051 a0001c0004t0051	a0001c0004t0051g0009 a0001c0004t0051g0009	1	250	0.0040	22	c.11- others(39): Show c.11-36632_11-36631insGTGTGTGTGTGTGTGTGTGTGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66589216	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0111 a0009c0015t0001g0111	1	241	0.0041	22	c.11- others(39): Show c.11-36628_11-36627insGTGTGTGTGTGTGTGTGTGTGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66742460	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	113	0.0088	22	c.246 others(39): Show c.2465-607_2465-586dupTTTTTTTTTTTTTTTTTTTTTT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134220058	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	32	0.0313	22	c.286 others(41): Show c.286-12649_286-12628dupTTTTTTTTTTTTTTTTTTTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar

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