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
SLC25A41_chr19_6421037_6438763	6429023	T T	TTATATAT others(26): Show TTATATATATATATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0086 a0001c0001t0002g0064 a0001c0001t0002g0086	2	335	0.0060	33	c.624 others(48): Show c.624+700_624+701insTATATATATATATATTATATATATATATAT ATA	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19096212	A A	ACCCCGGC others(26): Show ACCCCGGCCTCCTGGGATGGGTGTTCTCCTGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 HG02976.hp1 HG02258.hp2 HG02723.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277	3	314	0.0096	33	c.81+ others(44): Show c.81+12_81+44dupGGCCTCCTGGGATGGGTGTTCTCCTGGGGCCCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC25A4_chr4_185138266_185155382	185141271	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 NA18942.hp1 NA19087.hp2 HG03688.hp2 NA18942.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	3	418	0.0072	33	c.-21 others(44): Show c.-2102_-2101insCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTC	SLC25A4	ENSG00000151729.11	transcript	ENST00000281456.11	protein_coding		1994		chr4	TogoVar
SLC26A11_chr17_80215427_80258500	80243394	C C	CTTATTAT others(26): Show CTTATTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0048 a0002c0005t0008g0048	1	354	0.0028	33	c.103 others(52): Show c.1036+1593_1036+1594insATTATTATTATTATTATTATTATTAT TATTATT	SLC26A11	ENSG00000181045.15	transcript	ENST00000361193.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC26A4_chr7_107655828_107722809	107679944	T T	TATCTTAT others(26): Show TATCTTATATAATATAATCTTATTATATAATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0271 a0001c0001t0012g0271	1	364	0.0027	33	c.766 others(50): Show c.766-3250_766-3218dupATAATATAATCTTATTATATAATATAAT CTTAT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC26A4_chr7_107655828_107722809	107686405	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	233	0.0043	33	c.100 others(52): Show c.1002-2648_1002-2647insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	8/20			chr7	TogoVar
SLC26A6_chr3_48620723_48640461	48635260	C C	CCGAGGCG others(26): Show CCGAGGCGTCGCAAGCGGAGAATGCCTGCTCCAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19030.hp2 HG02723.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0022 a0001c0001t0001g0023	2	219	0.0091	33	c.23+ others(45): Show c.23+78_23+110dupCTGGAGCAGGCATTCTCCGCTTGCGACGCCTCG	SLC26A6	ENSG00000225697.13	transcript	ENST00000395550.7	protein_coding	1/20			chr3	TogoVar
SLC26A9_chr1_205908052_205948456	205931465	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0063 a0003c0003t0001g0063	1	6	0.1667	33	c.552 others(48): Show c.552+394_552+395insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SLC26A9	ENSG00000174502.19	transcript	ENST00000367135.8	protein_coding	5/20			chr1	TogoVar
SLC28A1_chr15_84879662_84950798	84917550	A A	ACTCAGCT others(26): Show ACTCAGCTACTCAGCTACTCAGCTGAGTAGCTGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0325 a0002c0015t0015g0325	1	394	0.0025	33	c.796 others(48): Show c.796-974_796-973insCTCAGCTACTCAGCTACTCAGCTGAGTAGC TGG	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	9/18			chr15	TogoVar
SLC2A13_chr12_39750025_40111081	39760950	C C	CACACACA others(26): Show CACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	208	0.0048	33	c.172 others(50): Show c.1721-699_1721-698insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGT	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	9/9			chr12	TogoVar
SLC2A13_chr12_39750025_40111081	39812996	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	8	0.1250	33	c.144 others(54): Show c.1445+17106_1445+17107insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7826860	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02630.hp1 HG02818.hp2 others(3): Show HG02083.hp2 HG02630.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0006 others(1): Show a0001c0004 a0001c0005 a0001c0006 a0001c0008	a0001c0004t0001 a0001c0005t0005 a0001c0006t0004 others(2): Show a0001c0004t0001 a0001c0005t0005 a0001c0006t0004 a0001c0006t0017 a0001c0008t0001	a0001c0004t0001g0253 a0001c0005t0005g0254 a0001c0006t0004g0124 others(3): Show a0001c0004t0001g0253 a0001c0005t0005g0254 a0001c0006t0004g0124 a0001c0006t0004g0287 a0001c0006t0017g0181 a0001c0008t0001g0240	6	229	0.0262	33	c.864 others(48): Show c.864+634_864+635insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A1_chr1_42920353_42963868	42956407	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	230	0.0043	33	c.18+ others(48): Show c.18+2226_18+2227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SLC2A1	ENSG00000117394.24	transcript	ENST00000426263.10	protein_coding	1/9			chr1	TogoVar
SLC30A10_chr1_219905445_219933557	219911149	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0062 a0001c0001t0096g0062	1	92	0.0109	33	c.42 others(44): Show c.4299_*4300insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC30A10	ENSG00000196660.12	transcript	ENST00000366926.4	protein_coding	4/4	4299		chr1	TogoVar
SLC30A4_chr15_45474606_45527755	45526119	T T	TCCCCCCT others(26): Show TCCCCCCTCCTTTCCCCTTCCTTCCTTCCCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0029 a0001c0003t0004g0029	1	316	0.0032	33	c.-36 others(44): Show c.-3628_-3627insGAAGGGGAAGGAAGGAAGGGGAAAGGAGGGGGG	SLC30A4	ENSG00000104154.7	transcript	ENST00000261867.5	protein_coding		3365		chr15	TogoVar
SLC30A7_chr1_100891090_100986757	100915121	T T	TTTCTTTT others(26): Show TTTCTTTTCTTCTTTCTTTCCCTCCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0206 a0001c0001t0034g0206	1	161	0.0062	33	c.655 others(50): Show c.655+1325_655+1326insCTTTCTTTCCCTCCCTTCCTCCCTTCTT TTCTT	SLC30A7	ENSG00000162695.12	transcript	ENST00000357650.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F4_chr14_57558920_57871092	57573004	G G	GCTTCAGT others(26): Show GCTTCAGTTCTGAGTATTCCCAAGTAAAGAAATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp1 others(6): Show HG00639.hp2 HG01069.hp1 HG01071.hp1 HG02451.hp1 HG02602.hp1 HG02818.hp2 NA18906.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0100 others(6): Show a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0100 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0208 a0001c0001t0001g0209	9	218	0.0413	33	c.808 others(49): Show c.808-1018_808-986dupAATTTCTTTACTTGGGAATACTCAGAACT GAAG	SLC35F4	ENSG00000151812.15	transcript	ENST00000556826.6	protein_coding	4/7			chr14	TogoVar
SLC35F4_chr14_57558920_57871092	57573025	A A	AAGTAAAG others(26): Show AAGTAAAGAAATTCTTCAGTTCTGAGTATTCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	218	0.0046	33	c.808 others(50): Show c.808-1007_808-1006insCGGGAATACTCAGAACTGAAGAATTTCT TTACT	SLC35F4	ENSG00000151812.15	transcript	ENST00000556826.6	protein_coding	4/7			chr14	TogoVar
SLC38A4_chr12_46759761_46830997	46825313	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	191	0.0052	33	c.-30 others(50): Show c.-305+589_-305+590insTATATATATATATATATATATATATATA TATAT	SLC38A4	ENSG00000139209.16	transcript	ENST00000266579.9	protein_coding	1/16			chr12	TogoVar
SLC38A7_chr16_58660109_58689770	58671647	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0083 a0001c0001t0012g0083	1	390	0.0026	33	c.103 others(50): Show c.1032-404_1032-403insTAAAAAAAAAAAAAAAAAATAAAAAAAA AAAAA	SLC38A7	ENSG00000103042.9	transcript	ENST00000219320.9	protein_coding	9/11			chr16	TogoVar
SLC38A9_chr5_55620848_55717324	55715609	T T	TGGGAATT others(26): Show TGGGAATTCCAAAAGGAGAGGAGAAAATAAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0299 a0002c0002t0001g0299	1	348	0.0029	33	c.-35 others(44): Show c.-3508_-3476dupTCCTTTATTTTCTCCTCTCCTTTTGGAATTCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding		3286		chr5	TogoVar
SLC39A11_chr17_72640949_73097688	72932309	T T	TATTATTA others(26): Show TATTATTATTATTATTATTATTATTATTATTATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG03195.hp2 HG02717.hp2 HG02809.hp2 HG03195.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0006 a0008c0016 a0001c0001 a0001c0006 a0008c0016	a0001c0001t0003 a0001c0006t0007 a0008c0016t0002 a0001c0001t0003 a0001c0006t0007 a0008c0016t0002	a0001c0001t0003g0110 a0001c0006t0007g0102 a0008c0016t0002g0161 a0001c0001t0003g0110 a0001c0006t0007g0102 a0008c0016t0002g0161	3	168	0.0179	33	c.430 others(52): Show c.430+15442_430+15443insTATAATAATAATAATAATAATAATAA TAATAAT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	5/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGGAAA others(26): Show AAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02735.hp2 HG00544.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0105 a0001c0001t0014g0121 a0001c0001t0001g0105 a0001c0001t0014g0121	2	57	0.0351	33	c.306 others(52): Show c.306+27323_306+27324insCTTTCTTTTCTTTCTTTCTTTCTTTC TTTCCTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73047990	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	97	0.0103	33	c.148 others(52): Show c.148-16277_148-16276insATATATATATATATATATATTTTTTT TTTTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0068 a0001c0001t0007g0068	1	232	0.0043	33	c.502 others(50): Show c.502-6874_502-6873insAAAAATATATATATATATATATATATAT ATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03927.hp2 HG04228.hp2 others(1): Show HG02040.hp2 HG03927.hp2 HG04228.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0044 a0001c0001t0123 others(1): Show a0001c0001t0002 a0001c0001t0044 a0001c0001t0123 a0001c0002t0046	a0001c0001t0002g0070 a0001c0001t0044g0341 a0001c0001t0123g0049 others(1): Show a0001c0001t0002g0070 a0001c0001t0044g0341 a0001c0001t0123g0049 a0001c0002t0046g0104	4	235	0.0170	33	c.502 others(50): Show c.502-6874_502-6873insAAAAAAATATATATATATATATATATAT ATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18971.hp2 HG00609.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0301 a0001c0001t0012g0335 a0001c0001t0002g0301 a0001c0001t0012g0335	2	233	0.0086	33	c.502 others(50): Show c.502-6874_502-6873insAAAAAAAAATATATATATATATATATAT ATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	232	0.0043	33	c.502 others(50): Show c.502-6874_502-6873insAAAAAAAAAAAAAAATATATATATATAT ATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403435	A A	AAAGAAGA others(26): Show AAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18991.hp2 NA18987.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0073 a0001c0001t0010g0051 a0001c0001t0003g0073 a0001c0001t0010g0051	2	141	0.0142	33	c.43 others(44): Show c.4356_*4357insCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3518		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403470	A A	AGAAGAAG others(26): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01106.hp1 others(16): Show HG00642.hp1 HG01070.hp2 HG01106.hp1 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG02015.hp2 HG02523.hp2 HG02895.hp1 HG03654.hp2 HG03834.hp1 NA18955.hp1 NA18965.hp2 NA18972.hp2 NA19005.hp1 NA19005.hp2 NA19089.hp2 NA20805.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0006 a0001c0001 a0001c0008 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0008t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0025 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0002g0008 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0048 a0001c0001t0003g0058 a0001c0001t0012g0039 a0001c0008t0001g0017 a0004c0006t0001g0112	19	186	0.1022	33	c.43 others(44): Show c.4321_*4322insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3483		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	219	0.0046	33	c.42 others(44): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403553	A A	AGAAGAGG others(26): Show AGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	307	0.0033	33	c.42 others(44): Show c.4238_*4239insCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3400		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403559	A A	AGAAGAAG others(26): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0039 a0001c0001t0012g0039	1	292	0.0034	33	c.42 others(44): Show c.4232_*4233insCTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3394		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403562	A A	AGAAGAAG others(26): Show AGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA20300.hp2 HG01515.hp1 HG01517.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0001g0001 a0001c0001t0003g0047 a0001c0001t0003g0050	3	295	0.0102	33	c.42 others(44): Show c.4229_*4230insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3391		chr11	TogoVar
SLC44A1_chr9_105239651_105402346	105351578	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	109	0.0092	33	c.500 others(50): Show c.500+3127_500+3128insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GGGAG	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	5/15			chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0068 a0001c0001t0019g0068	1	42	0.0238	33	c.195 others(52): Show c.1950+1559_1950+1560insAAAAAAAAAAATATATATATATATAT ATATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0076 a0002c0002t0076	a0002c0002t0076g0141 a0002c0002t0076g0141	1	42	0.0238	33	c.195 others(52): Show c.1950+1559_1950+1560insATATATATATATATATATATATATAT ATATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(26): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG04115.hp1 NA18906.hp2 others(1): Show HG02027.hp2 HG04115.hp1 NA18906.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0167 a0001c0001t0004g0021 a0001c0001t0004g0167	4	331	0.0121	33	c.189 others(48): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC4A1_chr17_44243390_44273135	44263711	T T	TTCCTTCC others(26): Show TTCCTTCCTTCCTTCCCTCCTTCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	394	0.0025	33	c.-68 others(48): Show c.-68-778_-68-777insGGGAAGGGAGGGAAGGAGGGAAGGAAGGAA GGA	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0191 a0002c0003t0001g0191	1	167	0.0060	33	c.-25 others(50): Show c.-25+3156_-25+3157insAAAAAAAAAAAAATATATATATATATAT ATATA	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(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	167	0.0060	33	c.-25 others(50): Show c.-25+3156_-25+3157insAAAAAAAAAAATATATATATATATATAT ATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A4_chr22_32213464_32260347	32218079	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0093 a0004c0006t0001g0093	1	215	0.0047	33	c.43 others(42): Show c.434_*435insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		384		chr22	TogoVar
SLC6A1_chr3_10987748_11044247	11029991	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03710.hp1 NA18747.hp2 others(7): Show HG00558.hp2 HG03710.hp1 NA18747.hp2 NA18959.hp1 NA18982.hp2 NA18999.hp2 NA19002.hp1 NA19006.hp1 NA19055.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0002t0004	a0001c0001t0001g0352 a0001c0001t0002g0223 a0001c0001t0003g0018 others(6): Show a0001c0001t0001g0352 a0001c0001t0002g0223 a0001c0001t0003g0018 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0004g0355 a0001c0001t0009g0182 a0001c0001t0012g0272 a0001c0002t0004g0246	10	276	0.0362	33	c.132 others(50): Show c.1323+639_1323+640insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15			chr3	TogoVar
SLC6A5_chr11_20594608_20664285	20647314	G G	GTTATATA others(26): Show GTTATATAGTTATATATATAACTATATATTCCTA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0232 a0004c0007t0005g0232	1	139	0.0072	33	c.207 others(50): Show c.2070+432_2070+464dupAACTATATATTCCTATTATATAGTTATA TATAT	SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0112 a0001c0003t0112	a0001c0003t0112g0095 a0001c0003t0112g0095	1	174	0.0057	33	c.278 others(50): Show c.278-1287_278-1286insAAAAAAATATATATATATATATATATAT ATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18988.hp1 HG00738.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0149 a0001c0001t0024g0258 a0001c0001t0001g0149 a0001c0001t0024g0258	2	31	0.0645	33	c.-11 others(52): Show c.-114-1498_-114-1497insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A7_chr14_22768222_22820435	22812791	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0369 a0001c0007t0002g0369	1	400	0.0025	33	c.499 others(48): Show c.499+108_499+109insATATATATATATATATATATATATATATAT ATA	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0051 a0001c0001t0063g0051	1	20	0.0500	33	c.79 others(44): Show c.7973_*7974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A2_chr19_47423017_47476893	47439603	C C	CTTCCTTC others(26): Show CTTCCTTCCTTTCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	1	181	0.0055	33	c.188 others(52): Show c.1885+1565_1885+1566insAGGAAGGAAGGAAGGAAGGAAGAAAG GAAGGAA	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	6/9			chr19	TogoVar
SLC8A3_chr14_70039215_70193951	70161121	G G	GTATATAT others(26): Show GTATATATATATATAAATATAAATATATATGTAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0120 a0001c0001t0053g0120	1	236	0.0042	33	c.178 others(52): Show c.1784+5485_1784+5517dupATACATATATATTTATATTTATATAT ATATATA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding	2/6			chr14	TogoVar

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