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
SEZ6L_chr22_26164462_26388596	26262244	T T	TTATCTAT others(17): Show TTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0023 a0001c0029t0023	a0001c0029t0023g0206 a0001c0029t0023g0206	1	23	0.0435	24	c.95- others(41): Show c.95-30144_95-30121dupATCTATCTATCTATCTATCTATCT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26278999	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAAGAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0034 a0002c0002t0006g0034	1	123	0.0081	24	c.95- others(41): Show c.95-13397_95-13396insAAGGAAGGAAAGACGGAAGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348513	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03516.hp1 HG03516.hp2 HG02818.hp2 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0012 a0001c0003t0001 a0001c0006t0012	a0001c0003t0001g0102 a0001c0003t0001g0182 a0001c0006t0012g0091 a0001c0003t0001g0102 a0001c0003t0001g0182 a0001c0006t0012g0091	3	148	0.0203	24	c.240 others(41): Show c.2407+626_2407+649dupAAGGAAGGAAGGAAGGAAGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGGAGGAA others(17): Show GGGAGGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0197 a0001c0006t0004g0197	1	144	0.0069	24	c.240 others(41): Show c.2407+653_2407+654insGAGGAAAGAAAGAAAGAAAGAAAG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0089 a0001c0006t0002g0089	1	70	0.0143	24	c.240 others(41): Show c.2407+734_2407+735insGAAAGAAAGAAAAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0030 a0003c0004t0030	a0003c0004t0030g0194 a0003c0004t0030g0194	1	70	0.0143	24	c.240 others(41): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAAGAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	70	0.0143	24	c.240 others(41): Show c.2407+734_2407+735insGAAAGAAAGAAAGAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348699	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	194	0.0052	24	c.240 others(41): Show c.2407+789_2407+790insGAAGGAAGGAAGAAAGGAAGGAAG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348703	A A	AAAAGAAG others(17): Show AAAAGAAGGAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	155	0.0065	24	c.240 others(41): Show c.2407+791_2407+792insAAGAAGGAAGAAAGGAAGGAAGGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348703	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03239.hp2 NA19010.hp2 others(1): Show HG00099.hp1 HG03239.hp2 NA19010.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018	a0001c0001t0002g0176 a0001c0001t0003g0166 a0001c0001t0011g0167 others(1): Show a0001c0001t0002g0176 a0001c0001t0003g0166 a0001c0001t0011g0167 a0001c0001t0018g0045	4	158	0.0253	24	c.240 others(41): Show c.2407+791_2407+792insAGGAAGGAAGAAAGGAAGGAAGGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348767	A A	AGGAGAGG others(17): Show AGGAGAGGGAAGGGAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0175 a0001c0001t0019g0175	1	190	0.0053	24	c.240 others(41): Show c.2407+856_2407+857insAGAGGGAAGGGAGGGAAGGGAGGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348777	A A	AGGAGAGG others(17): Show AGGAGAGGGAAGGGAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01099.hp1 others(48): Show HG00621.hp2 HG00673.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03710.hp2 NA18942.hp1 NA18946.hp1 NA19000.hp2 NA19043.hp2 NA19064.hp1 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0012	a0001c0001 a0001c0003 a0001c0006 others(10): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0021 a0002c0002 a0002c0005 a0002c0012 a0002c0018 a0003c0004 a0003c0034 a0005c0011 a0012c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(34): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0003t0022 a0001c0006t0004 a0001c0006t0009 a0001c0006t0012 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0021t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0002c0002t0010 a0002c0002t0017 a0002c0005t0001 a0002c0005t0004 a0002c0005t0007 a0002c0012t0004 a0002c0018t0014 a0003c0004t0002 a0003c0004t0004 a0003c0004t0007 a0003c0004t0026 a0003c0004t0029 a0003c0004t0030 a0003c0034t0001 a0005c0011t0001 a0005c0011t0004 a0012c0023t0011	a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0003g0215 others(48): Show a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0003g0215 a0001c0001t0005g0145 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0024g0063 a0001c0003t0001g0029 a0001c0003t0001g0102 a0001c0003t0001g0182 a0001c0003t0002g0064 a0001c0003t0004g0181 a0001c0003t0004g0196 a0001c0003t0004g0209 a0001c0003t0007g0185 a0001c0003t0022g0208 a0001c0006t0004g0187 a0001c0006t0009g0164 a0001c0006t0012g0091 a0001c0008t0001g0160 a0001c0008t0002g0005 a0001c0008t0004g0003 a0001c0021t0002g0121 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0004g0157 a0002c0002t0004g0186 a0002c0002t0009g0192 a0002c0002t0010g0234 a0002c0002t0010g0235 a0002c0002t0017g0096 a0002c0005t0001g0095 a0002c0005t0001g0227 a0002c0005t0004g0183 a0002c0005t0007g0146 a0002c0012t0004g0147 a0002c0018t0014g0104 a0002c0018t0014g0124 a0003c0004t0002g0017 a0003c0004t0002g0189 a0003c0004t0004g0100 a0003c0004t0007g0049 a0003c0004t0007g0191 a0003c0004t0026g0207 a0003c0004t0029g0097 a0003c0004t0030g0194 a0003c0034t0001g0019 a0005c0011t0001g0158 a0005c0011t0004g0024 a0012c0023t0011g0119	51	234	0.2179	24	c.240 others(41): Show c.2407+866_2407+867insAGAGGGAAGGGAGGGAAGGGAGGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG00738.hp1 others(33): Show HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01081.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG02040.hp1 HG02129.hp2 HG02132.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03492.hp1 HG03654.hp1 HG04204.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18986.hp1 NA19003.hp2 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19081.hp1 NA19081.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0010	a0001c0001 a0001c0006 a0001c0007 others(13): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0021 a0001c0027 a0001c0029 a0002c0002 a0002c0005 a0002c0033 a0003c0004 a0004c0014 a0006c0016 a0007c0019 a0009c0028 a0010c0024	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0006t0002 a0001c0006t0009 a0001c0007t0001 a0001c0007t0003 a0001c0008t0002 a0001c0021t0002 a0001c0027t0005 a0001c0029t0023 a0002c0002t0002 a0002c0002t0003 a0002c0005t0005 a0002c0033t0003 a0003c0004t0002 a0003c0004t0029 a0004c0014t0028 a0006c0016t0002 a0007c0019t0003 a0009c0028t0016 a0010c0024t0006	a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 others(33): Show a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0220 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0165 a0001c0001t0003g0168 a0001c0001t0003g0212 a0001c0001t0005g0059 a0001c0001t0005g0134 a0001c0001t0005g0224 a0001c0001t0006g0219 a0001c0006t0002g0089 a0001c0006t0009g0164 a0001c0007t0001g0152 a0001c0007t0003g0230 a0001c0008t0002g0005 a0001c0021t0002g0121 a0001c0027t0005g0222 a0001c0029t0023g0206 a0002c0002t0002g0188 a0002c0002t0003g0042 a0002c0005t0005g0204 a0002c0033t0003g0116 a0003c0004t0002g0017 a0003c0004t0029g0097 a0004c0014t0028g0008 a0006c0016t0002g0153 a0007c0019t0003g0080 a0009c0028t0016g0139 a0010c0024t0006g0062	36	120	0.3000	24	c.279 others(43): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	2	0.5000	24	c.468 others(39): Show c.468+582_468+583insTTTTTTTTTTTTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02015.hp1 others(6): Show HG01256.hp2 HG01258.hp2 HG02015.hp1 HG03239.hp2 HG03834.hp1 NA18944.hp2 NA19003.hp1 NA19011.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 a0001c0002t0002	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0223 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0009g0156 a0001c0001t0017g0241 a0001c0002t0002g0006	9	20	0.4500	24	c.495 others(39): Show c.495+251_495+274dupTTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31562983	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0316 a0006c0008t0001g0316	1	156	0.0064	24	c.765 others(41): Show c.765+1610_765+1611insATATATATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0322 a0002c0002t0001g0322	1	77	0.0130	24	c.124 others(43): Show c.1249-1638_1249-1637insATATATATATATATATATATATTT	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(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19011.hp2 NA18970.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0092 a0002c0002t0001g0074 a0002c0002t0001g0092	2	78	0.0256	24	c.124 others(43): Show c.1249-1638_1249-1637insATATATATATATATATATATTTTT	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(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	77	0.0130	24	c.124 others(43): Show c.1249-1638_1249-1637insATATATATATATATATATTTTTTT	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(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18951.hp2 HG03710.hp1 NA18951.hp2	a0002 a0018 a0002 a0018	a0002c0002 a0018c0014 a0002c0002 a0018c0014	a0002c0002t0001 a0018c0014t0001 a0002c0002t0001 a0018c0014t0001	a0002c0002t0001g0085 a0018c0014t0001g0102 a0002c0002t0001g0085 a0018c0014t0001g0102	2	78	0.0256	24	c.124 others(43): Show c.1249-1638_1249-1637insATATATATATATATATTTTTTTTT	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(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	77	0.0130	24	c.124 others(43): Show c.1249-1638_1249-1637insATATATATATATATTTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612398	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	128	0.0078	24	c.249 others(41): Show c.2490+559_2490+560insAAAAAAAATATATATATATATATA	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(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG01071.hp2 others(17): Show HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02257.hp1 HG02723.hp1 HG02970.hp1 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18989.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0044 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0184 a0001c0001t0001g0227 a0001c0001t0001g0322 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0309 a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0324	20	137	0.1460	24	c.124 others(41): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	51	0.0196	24	c.-13 others(43): Show c.-131+4824_-131+4847dupAAAAAAAAAAAAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7315038	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	30	0.0333	24	c.437 others(43): Show c.437-29108_437-29085dupTTCTTTCTTTCTTTCTTTCTTTCT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20			chr10	TogoVar
SFRP2_chr4_153775591_153794083	153789505	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18946.hp2 NA19065.hp1 HG00423.hp1 NA18946.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0002 a0001c0001t0001g0013	3	23	0.1304	24	c.-67 others(33): Show c.-671_-670insACACACACACACACACACACACAC	SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding		423		chr4	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02040.hp2 HG02135.hp2 others(2): Show HG00639.hp2 HG02040.hp2 HG02135.hp2 HG02809.hp1 HG03239.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0022 a0001c0001 a0001c0002 a0009c0022	a0001c0001t0001 a0001c0002t0001 a0009c0022t0001 a0001c0001t0001 a0001c0002t0001 a0009c0022t0001	a0001c0001t0001g0110 a0001c0001t0001g0230 a0001c0001t0001g0281 others(2): Show a0001c0001t0001g0110 a0001c0001t0001g0230 a0001c0001t0001g0281 a0001c0002t0001g0293 a0009c0022t0001g0125	5	37	0.1351	24	c.240 others(43): Show c.2409-2664_2409-2641dupTATATATATATATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(17): Show TTATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0301 a0001c0002t0001g0301	1	33	0.0303	24	c.240 others(43): Show c.2409-2652_2409-2651insTTATATATATATATATATATATAT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	33	0.0303	24	c.240 others(43): Show c.2409-2670_2409-2669insTTATATATATATATATATATATAT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFT2D3_chr2_127696497_127710242	127700120	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	295	0.0034	24	c.-14 others(35): Show c.-1409_-1408insTGTGTATATATATATATATATATA	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1376		chr2	TogoVar
SFTA2_chr6_30926353_30937170	30933426	G G	GCCCTCCC others(17): Show GCCCTCCCTCCCTCCCTCCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	365	0.0027	24	c.-13 others(35): Show c.-1331_-1330insAGGAAGGGAGGGAGGGAGGGAGGG	SFTA2	ENSG00000196260.5	transcript	ENST00000359086.4	protein_coding		1257		chr6	TogoVar
SFTA2_chr6_30926353_30937170	30933435	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03927.hp1 NA18942.hp1 others(8): Show HG03239.hp1 HG03927.hp1 NA18942.hp1 NA18960.hp1 NA18970.hp1 NA18980.hp2 NA19009.hp2 NA19063.hp1 NA19064.hp2 NA19067.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0001g0004 a0001c0001t0003g0003 a0001c0001t0003g0008	11	434	0.0253	24	c.-13 others(35): Show c.-1340_-1339insAAGGGAGGGAGGGAGGGAGGGAGG	SFTA2	ENSG00000196260.5	transcript	ENST00000359086.4	protein_coding		1266		chr6	TogoVar
SFTPC_chr8_22156798_22169479	22165882	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA18612.hp1 NA19081.hp1 HG03017.hp2 NA18612.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0003 a0001c0001t0001g0014	3	49	0.0612	24	c.16 others(35): Show c.1635_*1636insGTGTGTGTGTGTGTGTGTGTGTGT	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		1404		chr8	TogoVar
SFXN1_chr5_175473560_175534742	175505537	C C	CAATAATA others(17): Show CAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0189 a0001c0001t0014g0189	1	73	0.0137	24	c.165 others(41): Show c.165-3482_165-3459dupAATAATAATAATAATAATAATAAT	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN5_chr2_72937036_73076712	73047251	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	228	0.0044	24	c.172 others(41): Show c.172-6321_172-6320insGTGTGTATATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047253	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG01099.hp1 others(6): Show HG00140.hp2 HG00544.hp2 HG01099.hp1 HG02602.hp1 HG02738.hp1 NA18966.hp2 NA18967.hp2 NA19010.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0141 others(6): Show a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155	9	241	0.0373	24	c.172 others(41): Show c.172-6323_172-6322insGTGTGTATATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(17): Show GCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02280.hp1 HG02717.hp2 others(2): Show HG02015.hp2 HG02280.hp1 HG02717.hp2 HG03942.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0017	a0001c0001t0001g0081 a0001c0002t0001g0046 a0001c0002t0001g0053 others(2): Show a0001c0001t0001g0081 a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0003g0041 a0001c0003t0017g0023	5	75	0.0667	24	c.171 others(41): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCGC others(17): Show GCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20300.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0016 a0001c0002t0005g0231 a0001c0002t0005g0016 a0001c0002t0005g0231	2	72	0.0278	24	c.171 others(41): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGCGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050420	A A	ACACACAC others(17): Show ACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG06807.hp1 HG03209.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0003 a0001c0001t0008 a0001c0002t0003	a0001c0001t0008g0091 a0001c0002t0003g0031 a0001c0001t0008g0091 a0001c0002t0003g0031	2	240	0.0083	24	c.171 others(41): Show c.171+8107_171+8108insGGTGTGTGTGTGTGTGTGTGTGTG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCA_chr17_50161005_50180928	50162922	G G	GGGAGGGA others(17): Show GGGAGGGAGGGAAGGAAGGAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	2	414	0.0048	24	c.-31 others(35): Show c.-3119_-3118insGGAGGGAGGGAAGGAAGGAAGAAA	SGCA	ENSG00000108823.17	transcript	ENST00000262018.8	protein_coding		3082		chr17	TogoVar
SGCA_chr17_50161005_50180928	50162939	G G	GGAAGAAA others(17): Show GGAAGAAAGGAGGGAGGGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	414	0.0024	24	c.-31 others(35): Show c.-3102_-3101insGAAGAAAGGAGGGAGGGAGGGAGA	SGCA	ENSG00000108823.17	transcript	ENST00000262018.8	protein_coding		3065		chr17	TogoVar
SGCA_chr17_50161005_50180928	50163224	G G	GCCTGGCC others(17): Show GCCTGGCCTGACCAGCCTGACCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	414	0.0024	24	c.-28 others(35): Show c.-2817_-2816insCCTGGCCTGACCAGCCTGACCAAC	SGCA	ENSG00000108823.17	transcript	ENST00000262018.8	protein_coding		2780		chr17	TogoVar
SGCA_chr17_50161005_50180928	50178979	G G	GCTCACCA others(17): Show GCTCACCATCCATACAGCATGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	414	0.0024	24	c.32 others(35): Show c.3280_*3281insCTCACCATCCATACAGCATGTGGC	SGCA	ENSG00000108823.17	transcript	ENST00000262018.8	protein_coding		3052		chr17	TogoVar
SGCD_chr5_156322164_156772788	156406018	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01891.hp2 others(6): Show HG00639.hp2 HG01071.hp2 HG01891.hp2 HG02129.hp1 HG02145.hp1 HG02698.hp2 HG04115.hp2 NA18959.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0026 a0001c0001t0048 others(4): Show a0001c0001t0001 a0001c0001t0026 a0001c0001t0048 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0002c0003t0017	a0001c0001t0001g0146 a0001c0001t0026g0016 a0001c0001t0048g0053 others(6): Show a0001c0001t0001g0146 a0001c0001t0026g0016 a0001c0001t0048g0053 a0001c0002t0002g0075 a0001c0002t0002g0107 a0001c0002t0004g0106 a0001c0002t0004g0113 a0001c0002t0008g0101 a0002c0003t0017g0014	9	30	0.3000	24	c.192 others(43): Show c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAAAA	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(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0065 a0001c0001t0042g0065	1	77	0.0130	24	c.193 others(41): Show c.193-4199_193-4176dupATATATATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156558088	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0106 a0001c0002t0004g0106	1	12	0.0833	24	c.295 others(43): Show c.295-31130_295-31107dupATATATATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156653493	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02145.hp2 HG01109.hp2 HG02055.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0058 a0001c0001t0001 a0001c0002t0058	a0001c0001t0001g0068 a0001c0001t0001g0116 a0001c0002t0058g0089 a0001c0001t0001g0068 a0001c0001t0001g0116 a0001c0002t0058g0089	3	12	0.2500	24	c.575 others(41): Show c.575+5972_575+5973insTTTTTTTTTTTTTTTTTTTTTTTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156677400	A A	AAAACTAT others(17): Show AAAACTATCGCAAGGACAGAAAACC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0148 a0004c0005t0001g0148	1	148	0.0068	24	c.575 others(43): Show c.575+29893_575+29916dupTATCGCAAGGACAGAAAACCAAAC	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(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04115.hp1 HG00735.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0004t0006 a0001c0003t0006 a0001c0004t0006	a0001c0003t0006g0035 a0001c0004t0006g0338 a0001c0003t0006g0035 a0001c0004t0006g0338	2	108	0.0185	24	c.386 others(41): Show c.386-4216_386-4215insTATATATATATATATATATATATA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23279709	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01167.hp1 others(5): Show HG00280.hp2 HG00738.hp2 HG01167.hp1 HG01169.hp2 HG01993.hp1 HG02559.hp2 NA19240.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0019 a0001c0004t0003 a0001c0005t0005 a0003c0009t0002	a0001c0001t0001g0250 a0001c0002t0002g0222 a0001c0002t0005g0149 others(5): Show a0001c0001t0001g0250 a0001c0002t0002g0222 a0001c0002t0005g0149 a0001c0002t0019g0102 a0001c0004t0003g0246 a0001c0005t0005g0141 a0001c0005t0005g0145 a0003c0009t0002g0060	8	318	0.0252	24	c.505 others(39): Show c.505+242_505+243insTCCTTCCTTCCTTCCTTCCTTCCT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar

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