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
SLC51A_chr3_196211534_196238427	196229689	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	207	0.0048	13	c.634 others(28): Show c.634-224_634-212dupAAAAAAAAAAAAA	SLC51A	ENSG00000163959.10	transcript	ENST00000296327.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC5A10_chr17_18947165_19027565	18976187	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02622.hp1 HG03098.hp1 others(3): Show HG01192.hp1 HG02622.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0033 a0001c0001 a0001c0006 a0001c0033	a0001c0001t0001 a0001c0001t0020 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0020 a0001c0006t0001 a0001c0033t0001	a0001c0001t0001g0006 a0001c0001t0001g0173 a0001c0001t0020g0145 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0173 a0001c0001t0020g0145 a0001c0006t0001g0194 a0001c0033t0001g0136	6	128	0.0469	13	c.847 others(28): Show c.847-658_847-657insAAAAAAAAAAAAA	SLC5A10	ENSG00000154025.16	transcript	ENST00000395645.4	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0201 a0001c0001t0001g0203	2	168	0.0119	13	c.-25 others(30): Show c.-25+3156_-25+3157insAAAAAAAAAAATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	167	0.0060	13	c.-25 others(30): Show c.-25+3156_-25+3157insAAAAAAAAATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24863093	G G	GATATTTA others(6): Show GATATTTATAAATC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00642.hp1 others(19): Show HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01358.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01975.hp2 HG02080.hp1 HG02132.hp1 HG02602.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0002c0005t0001	a0001c0001t0001g0062 a0001c0001t0001g0193 a0001c0001t0001g0194 others(19): Show a0001c0001t0001g0062 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0260 a0001c0001t0001g0304 a0001c0004t0001g0211 a0002c0003t0001g0187 a0002c0005t0001g0199	22	376	0.0585	13	c.207 others(28): Show c.207+425_207+426insTTATAAATCATAT	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24904915	T T	TTGTCCTA others(6): Show TTGTCCTAATGCTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	376	0.0027	13	c.100 others(32): Show c.1007-1740_1007-1728dupGTCCTAATGCTCT	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24914095	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02965.hp2 others(12): Show HG02451.hp2 HG02559.hp2 HG02965.hp2 HG03225.hp2 NA18982.hp2 NA18986.hp1 NA18989.hp2 NA18994.hp1 NA19003.hp2 NA19010.hp2 NA19068.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0046 a0001c0001t0001g0230 a0001c0001t0001g0253 others(12): Show a0001c0001t0001g0046 a0001c0001t0001g0230 a0001c0001t0001g0253 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0300 a0001c0001t0001g0308 a0001c0001t0001g0340 a0001c0001t0001g0350 a0001c0001t0001g0360 a0001c0001t0001g0374 a0001c0002t0001g0242 a0001c0007t0001g0245 a0002c0003t0001g0129 a0002c0003t0001g0183	15	43	0.3488	13	c.25 others(24): Show c.2562_*2563insTTTTTTTTTTTTT	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding		2470		chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24916422	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0114 a0003c0008t0001g0114	1	335	0.0030	13	c.48 others(24): Show c.4889_*4890insTTTTTTTTTTTTT	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding		4797		chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24916423	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0332 a0001c0004t0002g0332	1	71	0.0141	13	c.48 others(24): Show c.4890_*4891insTTTTTTTTTTTTT	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding		4798		chr16	TogoVar
SLC5A3_chr21_34068578_34111260	34068799	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG01192.hp1 others(5): Show HG00140.hp1 HG01123.hp1 HG01192.hp1 HG01361.hp1 HG01891.hp1 HG03654.hp1 HG03927.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0001t0046	a0001c0001t0001g0179 a0001c0001t0004g0008 a0001c0001t0004g0125 others(5): Show a0001c0001t0001g0179 a0001c0001t0004g0008 a0001c0001t0004g0125 a0001c0001t0004g0163 a0001c0001t0007g0134 a0001c0001t0020g0008 a0001c0001t0020g0012 a0001c0001t0046g0161	8	37	0.2162	13	c.-52 others(24): Show c.-5283_-5282insAAAAAAAAAAAAA	SLC5A3	ENSG00000198743.7	transcript	ENST00000381151.5	protein_coding		4778		chr21	TogoVar
SLC5A4_chr22_32213464_32260347	32218079	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02970.hp2 HG03239.hp1 HG00642.hp2 HG02970.hp2 HG03239.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0213 a0004c0006t0001g0021 a0001c0001t0001g0213 a0004c0006t0001g0021	3	217	0.0138	13	c.43 others(22): Show c.434_*435insAAAAAAAAAAAAA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		384		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32218406	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG01243.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	26	0.0769	13	c.10 others(22): Show c.107_*108insTTTTTTTTTTTTT	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		57		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239518	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	255	0.0039	13	c.478 others(28): Show c.478-429_478-428insTATATATATATAT	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239554	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	204	0.0049	13	c.478 others(28): Show c.478-477_478-465dupATATATATATATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC66A1_chr1_19307326_19334300	19327529	A A	ATCCCTCC others(6): Show ATCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	125	0.0080	13	c.804 others(28): Show c.804+125_804+126insCTCCCTCCCTCCC	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A3_chr2_11150467_11183856	11164341	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG01891.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0218 a0001c0001t0009g0217 a0001c0001t0004g0218 a0001c0001t0009g0217	2	401	0.0050	13	c.354 others(26): Show c.354+81_354+82insTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A3_chr2_11150467_11183856	11164343	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0242 a0001c0001t0005g0242	1	398	0.0025	13	c.354 others(26): Show c.354+83_354+84insTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp2 HG02809.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0262 a0001c0001t0005g0230 a0001c0001t0001g0262 a0001c0001t0005g0230	2	30	0.0667	13	c.354 others(26): Show c.354+85_354+86insATATATATATTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC6A14_chrX_116431606_116466458	116445505	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	285	0.0035	13	c.789 others(28): Show c.789+455_789+456insGAGAGAGAGAGAG	SLC6A14	ENSG00000268104.3	transcript	ENST00000598581.3	protein_coding	6/13			chrX	TogoVar
SLC6A15_chr12_84854491_84917799	84895339	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0185 a0001c0002t0004g0185	1	66	0.0152	13	c.-18 others(32): Show c.-188-3044_-188-3032dupAAAAAAAAAAAAA	SLC6A15	ENSG00000072041.18	transcript	ENST00000266682.10	protein_coding	1/11			chr12	TogoVar
SLC6A15_chr12_84854491_84917799	84904224	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	36	0.0278	13	c.-18 others(32): Show c.-189+8298_-189+8299insTCTCTCTCTCTCT	SLC6A15	ENSG00000072041.18	transcript	ENST00000266682.10	protein_coding	1/11			chr12	TogoVar
SLC6A15_chr12_84854491_84917799	84904250	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	211	0.0047	13	c.-18 others(32): Show c.-189+8272_-189+8273insCTCTCTCTCTCTC	SLC6A15	ENSG00000072041.18	transcript	ENST00000266682.10	protein_coding	1/11			chr12	TogoVar
SLC6A16_chr19_49284638_49330191	49286263	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	50	0.0200	13	c.38 others(24): Show c.3859_*3860insCTCTCTCTCTCTC	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding		3374		chr19	TogoVar
SLC6A16_chr19_49284638_49330191	49286297	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	333	0.0030	13	c.38 others(24): Show c.3825_*3826insTCTCTCTCTCTCT	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding		3340		chr19	TogoVar
SLC6A16_chr19_49284638_49330191	49307051	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp2 HG01243.hp2 others(11): Show HG00733.hp1 HG01168.hp2 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02572.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02897.hp2 HG03516.hp1 NA19043.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0042 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0007t0001g0179	14	71	0.1972	13	c.122 others(32): Show c.1229+1812_1229+1824dupAAAAAAAAAAAAA	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding	7/11			chr19	TogoVar
SLC6A16_chr19_49284638_49330191	49313072	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02145.hp2 others(3): Show HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02622.hp1 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 others(3): Show a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0288	6	128	0.0469	13	c.-64 others(30): Show c.-64-1674_-64-1662dupTTTTTTTTTTTTT	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding	1/11			chr19	TogoVar
SLC6A18_chr5_1220381_1251189	1233749	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp2 HG02004.hp2 others(9): Show HG01496.hp1 HG01891.hp2 HG02004.hp2 HG02615.hp2 HG02809.hp2 HG02818.hp1 HG02970.hp2 HG03225.hp2 HG03540.hp2 HG03834.hp1 NA19240.hp1 NA19240.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0003c0004 a0006c0008 others(1): Show a0001c0002 a0003c0004 a0006c0008 a0006c0045	a0001c0002t0002 a0003c0004t0001 a0006c0008t0004 others(1): Show a0001c0002t0002 a0003c0004t0001 a0006c0008t0004 a0006c0045t0004	a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 others(9): Show a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0003c0004t0001g0274 a0003c0004t0001g0276 a0003c0004t0001g0292 a0003c0004t0001g0295 a0003c0004t0001g0296 a0003c0004t0001g0297 a0003c0004t0001g0350 a0006c0008t0004g0176 a0006c0045t0004g0172	12	389	0.0308	13	c.439 others(28): Show c.439+871_439+872insTTTTTTTTTTTTT	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1237240	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0005 a0017c0037t0005	a0017c0037t0005g0154 a0017c0037t0005g0154	1	52	0.0192	13	c.622 others(28): Show c.622-699_622-687dupAAAAAAAAAAAAA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A1_chr3_10987748_11044247	11029991	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG02809.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0026 a0001c0001t0007 a0001c0001t0026	a0001c0001t0007g0347 a0001c0001t0026g0348 a0001c0001t0007g0347 a0001c0001t0026g0348	2	268	0.0075	13	c.132 others(30): Show c.1323+639_1323+640insGAAAGAAAGAAAG	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15			chr3	TogoVar
SLC6A4_chr17_30189319_30240697	30215002	T T	TTCTTTCT others(6): Show TTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG02109.hp1 HG03486.hp1	a0001 a0001	a0001c0011 a0001c0012 a0001c0011 a0001c0012	a0001c0011t0008 a0001c0012t0027 a0001c0011t0008 a0001c0012t0027	a0001c0011t0008g0155 a0001c0012t0027g0091 a0001c0011t0008g0155 a0001c0012t0027g0091	2	74	0.0270	13	c.107 others(30): Show c.1076+608_1076+609insGAAAGAAGAAAGA	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	8/14			chr17	TogoVar
SLC6A4_chr17_30189319_30240697	30215006	T T	TTCTTTCT others(6): Show TTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	284	0.0035	13	c.107 others(30): Show c.1076+604_1076+605insGAAAGAAGAAAGA	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	8/14			chr17	TogoVar
SLC6A4_chr17_30189319_30240697	30237155	G G	GGGGTGCA others(6): Show GGGGTGCATGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0060 a0001c0001t0010g0060	1	284	0.0035	13	c.-17 others(24): Show c.-1764_-1763insGCCCCATGCACCC	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding		1459		chr17	TogoVar
SLC6A5_chr11_20594608_20664285	20618980	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0242 a0003c0005t0001g0242	1	351	0.0028	13	c.126 others(32): Show c.1260+1096_1260+1097insCACACACACACAC	SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	7/15			chr11	TogoVar
SLC6A5_chr11_20594608_20664285	20660346	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0271 a0002c0002t0004g0271	1	349	0.0029	13	c.54 others(24): Show c.5478_*5479insGTGTGTGTGTGTG	SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding		1062		chr11	TogoVar
SLC6A9_chr1_43991483_44036462	43994442	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA21309.hp1 NA19057.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0267 a0001c0001t0003g0120 a0001c0001t0001g0267 a0001c0001t0003g0120	2	378	0.0053	13	c.31 others(24): Show c.3102_*3103insAGAAAGAAAGAAA	SLC6A9	ENSG00000196517.13	transcript	ENST00000372310.8	protein_coding		2040		chr1	TogoVar
SLC7A11_chr4_138159097_138247349	138225172	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0331 a0001c0001t0029g0331	1	362	0.0028	13	c.521 others(30): Show c.521-1849_521-1848insATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	3/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	174	0.0057	13	c.278 others(30): Show c.278-1287_278-1286insAAATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	174	0.0057	13	c.278 others(30): Show c.278-1287_278-1286insAAAAATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237738	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18980.hp1 NA19002.hp1 others(2): Show HG03471.hp2 NA18980.hp1 NA19002.hp1 NA19006.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0110 a0001c0002t0015 a0001c0002t0022 a0001c0001t0110 a0001c0002t0015 a0001c0002t0022	a0001c0001t0110g0111 a0001c0002t0015g0010 a0001c0002t0022g0210 others(1): Show a0001c0001t0110g0111 a0001c0002t0015g0010 a0001c0002t0022g0210 a0001c0002t0022g0229	5	342	0.0146	13	c.278 others(30): Show c.278-1288_278-1287insTATATATATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237738	T T	TATATATT others(6): Show TATATATTTATTTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0224 a0001c0002t0033g0224	1	338	0.0030	13	c.278 others(30): Show c.278-1288_278-1287insTAAATAAATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A14_chr3_170454548_170591075	170471090	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0031	1	137	0.0073	13	c.199 others(32): Show c.1994-3714_1994-3713insACACACACACACA	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	7/7			chr3	TogoVar
SLC7A14_chr3_170454548_170591075	170499236	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	28	0.0357	13	c.542 others(28): Show c.542-365_542-353dupTTTTTTTTTTTTT	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	3/7			chr3	TogoVar
SLC7A14_chr3_170454548_170591075	170550512	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG02055.hp1 others(12): Show HG01069.hp2 HG01099.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03831.hp2 NA19075.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0022 a0001c0001t0044 a0001c0002t0005 a0001c0002t0006 a0001c0002t0027 a0001c0006t0006 a0002c0003t0009 a0002c0004t0018 a0003c0007t0016 a0003c0007t0024	a0001c0001t0001g0154 a0001c0001t0004g0267 a0001c0001t0004g0268 others(12): Show a0001c0001t0001g0154 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0015g0258 a0001c0001t0022g0056 a0001c0001t0044g0012 a0001c0002t0005g0011 a0001c0002t0005g0228 a0001c0002t0006g0287 a0001c0002t0027g0004 a0001c0006t0006g0152 a0002c0003t0009g0276 a0002c0004t0018g0115 a0003c0007t0016g0149 a0003c0007t0024g0010	15	100	0.1500	13	c.-15 others(34): Show c.-152-23437_-152-23425dupAAAAAAAAAAAAA	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	1/7			chr3	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp2 HG02055.hp2 others(5): Show HG00735.hp2 HG01167.hp2 HG02055.hp2 HG02572.hp1 HG02897.hp2 HG03041.hp1 NA18965.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0017 a0001c0001 a0001c0004 a0001c0017	a0001c0001t0001 a0001c0001t0040 a0001c0001t0048 others(3): Show a0001c0001t0001 a0001c0001t0040 a0001c0001t0048 a0001c0004t0006 a0001c0004t0011 a0001c0017t0006	a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0300 others(5): Show a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0300 a0001c0001t0040g0252 a0001c0001t0048g0320 a0001c0004t0006g0100 a0001c0004t0011g0110 a0001c0017t0006g0151	8	37	0.2162	13	c.-11 others(32): Show c.-114-1510_-114-1498dupTTTTTTTTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29576293	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0016	a0002c0007t0016g0003 a0002c0007t0016g0003	2	6	0.3333	13	c.-11 others(34): Show c.-115+19110_-115+19122dupTTTTTTTTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29576293	T T	TTTTAAAA others(6): Show TTTTAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp2 HG02451.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0007 a0001c0005 a0002c0007	a0001c0005t0006 a0002c0007t0016 a0001c0005t0006 a0002c0007t0016	a0001c0005t0006g0121 a0002c0007t0016g0126 a0001c0005t0006g0121 a0002c0007t0016g0126	2	6	0.3333	13	c.-11 others(34): Show c.-115+19122_-115+19123insTTTTTTTTTTAAA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A2_chr8_17492088_17575566	17492892	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 NA19240.hp1 HG02647.hp2 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0017 a0001c0001 a0007c0017	a0001c0001t0016 a0007c0017t0004 a0001c0001t0016 a0007c0017t0004	a0001c0001t0016g0427 a0007c0017t0004g0426 a0001c0001t0016g0427 a0007c0017t0004g0426	2	13	0.1538	13	c.-44 others(24): Show c.-4414_-4413insAAAAAAAAAAAAA	SLC7A2	ENSG00000003989.18	transcript	ENST00000494857.6	protein_coding		4195		chr8	TogoVar
SLC7A2_chr8_17492088_17575566	17520641	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0440 a0001c0001t0001g0440	1	42	0.0238	13	c.-23 others(32): Show c.-23+18356_-23+18368dupAAAAAAAAAAAAA	SLC7A2	ENSG00000003989.18	transcript	ENST00000494857.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC7A2_chr8_17492088_17575566	17542657	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0077 a0001c0001t0086g0077	1	429	0.0023	13	c.-22 others(28): Show c.-22-658_-22-657insAAAAAAAAAGAAA	SLC7A2	ENSG00000003989.18	transcript	ENST00000494857.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC7A2_chr8_17492088_17575566	17562180	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02818.hp2 others(2): Show HG01081.hp1 HG01884.hp1 HG02818.hp2 HG03654.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0005 others(1): Show a0001c0001 a0001c0016 a0003c0005 a0003c0007	a0001c0001t0004 a0001c0001t0027 a0001c0016t0015 others(2): Show a0001c0001t0004 a0001c0001t0027 a0001c0016t0015 a0003c0005t0006 a0003c0007t0006	a0001c0001t0004g0339 a0001c0001t0027g0397 a0001c0016t0015g0035 others(2): Show a0001c0001t0004g0339 a0001c0001t0027g0397 a0001c0016t0015g0035 a0003c0005t0006g0137 a0003c0007t0006g0086	5	23	0.2174	13	c.167 others(29): Show c.1671+93_1671+105dupTTTTTTTTTTTTT	SLC7A2	ENSG00000003989.18	transcript	ENST00000494857.6	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr8	TogoVar

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