Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SART1_chr11_65956734_65985137	65971268	AGCTGAGG others(57): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGGAGCT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0261 a0001c0005t0002g0261	1	384	0.0026	-64	c.157 others(83): Show c.1572+3481_1572+3544delCTGAGGAGGGGGATGGTGGGATTCAG GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(57): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG02559.hp2 others(1): Show HG00733.hp1 HG00741.hp2 HG02559.hp2 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0002c0002t0001	a0001c0001t0002g0142 a0001c0001t0009g0010 a0001c0001t0016g0155 others(1): Show a0001c0001t0002g0142 a0001c0001t0009g0010 a0001c0001t0016g0155 a0002c0002t0001g0223	4	322	0.0124	-64	c.157 others(81): Show c.157-2505_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBK2_chr19_55523611_55542133	55527613	ACTCACAC others(57): Show ACTCACACTCATGGACACACATGCACACTGGCACACATACGCATACTCAT GGACACATGCACACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0191 a0002c0002t0003g0191	1	434	0.0023	-64	c.20 others(75): Show c.2056_*2119delAGTGTGCATGTGTCCATGAGTATGCGTATGTGTG CCAGTGTGCATGTGTGTCCATGAGTGTGAG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		997		chr19	TogoVar
SBK2_chr19_55523611_55542133	55527648	CATACGCA others(57): Show CATACGCATACTCATGGACACATGCACACTCACACTCATGGACACACATG CACACTGGCACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG03225.hp1 others(1): Show HG01891.hp1 HG03195.hp1 HG03225.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0088 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0088 a0001c0001t0003g0037	4	434	0.0092	-64	c.20 others(75): Show c.2021_*2084delATGTGTGCCAGTGTGCATGTGTGTCCATGAGTGT GAGTGTGCATGTGTCCATGAGTATGCGTAT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		962		chr19	TogoVar
SBK2_chr19_55523611_55542133	55527677	TCACACTC others(57): Show TCACACTCATGGACACACATGCACACTGGCACACATACGCATACTCATGG ACACATGCACACTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02486.hp1 others(5): Show HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02896.hp2 HG03130.hp1 HG03579.hp2	a0000 a0001 a0007 a0000 a0001 a0007	a0000c0003 a0001c0001 a0007c0023 a0000c0003 a0001c0001 a0007c0023	a0000c0003t0038 a0001c0001t0001 a0001c0001t0016 others(4): Show a0000c0003t0038 a0001c0001t0001 a0001c0001t0016 a0001c0001t0022 a0001c0001t0032 a0001c0001t0040 a0007c0023t0022	a0000c0003t0038g0205 a0001c0001t0001g0011 a0001c0001t0016g0175 others(5): Show a0000c0003t0038g0205 a0001c0001t0001g0011 a0001c0001t0016g0175 a0001c0001t0022g0127 a0001c0001t0022g0145 a0001c0001t0032g0112 a0001c0001t0040g0181 a0007c0023t0022g0212	8	434	0.0184	-64	c.19 others(75): Show c.1992_*2055delTGAGTGTGCATGTGTCCATGAGTATGCGTATGTG TGCCAGTGTGCATGTGTGTCCATGAGTGTG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		933		chr19	TogoVar
SBK2_chr19_55523611_55542133	55527688	GACACACA others(57): Show GACACACATGCACACTGGCACACATACGCATACTCATGGACACATGCACA CTCACACTCATGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02647.hp2 HG03486.hp1 HG01192.hp2 HG02647.hp2 HG03486.hp1	a0000 a0001 a0008 a0000 a0001 a0008	a0000c0003 a0001c0001 a0008c0022 a0000c0003 a0001c0001 a0008c0022	a0000c0003t0023 a0001c0001t0023 a0008c0022t0023 a0000c0003t0023 a0001c0001t0023 a0008c0022t0023	a0000c0003t0023g0121 a0001c0001t0023g0119 a0008c0022t0023g0120 a0000c0003t0023g0121 a0001c0001t0023g0119 a0008c0022t0023g0120	3	434	0.0069	-64	c.19 others(75): Show c.1981_*2044delGTCCATGAGTGTGAGTGTGCATGTGTCCATGAGT ATGCGTATGTGTGCCAGTGTGCATGTGTGT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		922		chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159626187	GATAGATA others(57): Show GATAGATAGATAGATAGATAGATATATCTAGATATATATATATCTAGATA TATCTATCTATCTAT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	100	0.0100	-64	c.64- others(83): Show c.64-138232_64-138169delTATCTAGATATATATATATCTAGATA TATCTATCTATCTATATAGATAGATAGATAGATAGATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877349	CTATATAT others(57): Show CTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATAT ATGGTGTATATACTA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	314	0.0032	-64	c.339 others(83): Show c.3393+2537_3393+2600delTAGTATATACACCATATATATACCAT ATATATAGTATATACACCATATATATACCATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877628	CTATATAT others(57): Show CTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATAT ATGGTGTATATACTA	C C	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	314	0.0032	-64	c.339 others(83): Show c.3393+2258_3393+2321delTAGTATATACACCATATATATACCAT ATATATAGTATATACACCATATATATACCATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963360	TATATATA others(57): Show TATATATATATATATATATATATATATGATGGAGATATATATATATATAT ATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02486.hp2 others(9): Show HG01167.hp2 HG01243.hp2 HG02486.hp2 HG02572.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0001c0007 a0005c0017 a0001c0005 a0001c0007 a0005c0017	a0001c0005t0001 a0001c0007t0010 a0005c0017t0015 a0001c0005t0001 a0001c0007t0010 a0005c0017t0015	a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0248 others(9): Show a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0250 a0001c0005t0001g0251 a0001c0005t0001g0254 a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257 a0001c0007t0010g0314 a0005c0017t0015g0208	12	314	0.0382	-64	c.-27 others(83): Show c.-279-3001_-279-2938delCTCCATCATATATATATATATATATA TATATCTCCATCATATATATATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN9A_chr2_166190185_166380944	166191670	TATATATA others(57): Show TATATATATATACACACACATATATATATATGTATATATATATATATACA CACATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0018 a0001c0007t0012g0018	1	296	0.0034	-64	c.69 others(75): Show c.6938_*7001delGTATATATATATGTGTGTATATATATATATATAC ATATATATATATGTGTGTGTATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3514		chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23333095	GAGGAAGG others(57): Show GAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAA GGAAAGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG01891.hp2 others(13): Show HG01167.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02615.hp1 HG02698.hp2 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03516.hp2 NA19066.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0002c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0105 a0001c0001t0001g0280 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0105 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0002t0001g0008 a0001c0002t0001g0060 a0001c0003t0001g0064 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0293 a0001c0009t0001g0059 a0002c0007t0001g0283 a0002c0007t0001g0294	16	306	0.0523	-64	c.-8- others(81): Show c.-8-15481_-8-15418delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDHA_chr5_213320_262082	259023	CCAGAGCA others(57): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCACAGCATTACCGTGTG AGCTCCGCCTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	266	0.0038	-64	c.26 others(75): Show c.2604_*2667delCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCA CAGCATTACCGTGTGAGCTCCGCCTCCCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1942		chr5	TogoVar
SDHA_chr5_213320_262082	259154	CAGCATTA others(57): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0155 a0001c0007t0001g0155	1	266	0.0038	-64	c.27 others(75): Show c.2735_*2798delAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCCG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2073		chr5	TogoVar
SDHA_chr5_213320_262082	259469	TGCCAGAG others(57): Show TGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGTCACAGCATTACCGTG TGAGCTCCGCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	266	0.0038	-64	c.30 others(75): Show c.3050_*3113delGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGT CACAGCATTACCGTGTGAGCTCCGCCTCCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2388		chr5	TogoVar
SDHA_chr5_213320_262082	259951	CCAGAGCA others(57): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	266	0.0038	-64	c.35 others(75): Show c.3532_*3595delCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCA GAGCATTACCGTGTGAGCTCCGCCTCCCCA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2870		chr5	TogoVar
SDHA_chr5_213320_262082	259983	CCAGAGCA others(57): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTG AGCTCCGCCTCCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG03688.hp2 HG04204.hp1 others(2): Show HG02074.hp2 HG03688.hp2 HG04204.hp1 NA18966.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0043 a0001c0001t0002g0047 others(2): Show a0001c0001t0002g0008 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0061 a0001c0001t0002g0072	5	266	0.0188	-64	c.35 others(75): Show c.3564_*3627delCAGAGCATTACCGTGTGAGCTCCGCCTCCCCACA GAGCATTACCGTGTGAGCTCCGCCTCCCGG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2902		chr5	TogoVar
SDHA_chr5_213320_262082	260812	TGCCAGAG others(57): Show TGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTG TGAGCTCCGCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG03669.hp1 others(3): Show HG00673.hp1 HG01175.hp1 HG03669.hp1 HG04184.hp1 NA18979.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0037 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0066 a0001c0009t0002g0006	6	266	0.0226	-64	c.43 others(75): Show c.4393_*4456delGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGC CAGAGCATTACCGTGTGAGCTCCGCCTCCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3731		chr5	TogoVar
SDHA_chr5_213320_262082	261358	GCAGAGCA others(57): Show GCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTG AGCTCCGCCTCCCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	266	0.0038	-64	c.49 others(75): Show c.4939_*5002delCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCA GAGCATTACCGTGTGAGCTCCGCCTCCCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4277		chr5	TogoVar
SDK2_chr17_73329384_73649445	73500100	CGTCCATC others(57): Show CGTCCATCCTCCCTCCATTCTCCTCCATCCTCCATCCATCCTCCCTCCAC TCTCCTCCATTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG03209.hp1 others(2): Show HG02257.hp2 HG02818.hp1 HG03209.hp1 HG06807.hp2 NA18522.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0006 a0001c0033 others(2): Show a0001c0002 a0001c0006 a0001c0033 a0004c0011 a0006c0085	a0001c0002t0065 a0001c0006t0018 a0001c0033t0052 others(2): Show a0001c0002t0065 a0001c0006t0018 a0001c0033t0052 a0004c0011t0091 a0006c0085t0095	a0001c0002t0065g0177 a0001c0006t0018g0109 a0001c0033t0052g0002 others(2): Show a0001c0002t0065g0177 a0001c0006t0018g0109 a0001c0033t0052g0002 a0004c0011t0091g0104 a0006c0085t0095g0042	5	204	0.0245	-64	c.224 others(81): Show c.224+7274_224+7337delAGAGAATGGAGGAGAGTGGAGGGAGGAT GGATGGAGGATGGAGGAGAATGGAGGGAGGATGGAC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SEC23A_chr14_39026919_39108235	39094315	TATGCATA others(57): Show TATGCATATATACACATATACACATATATATGCATATATACACATATACA TATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01496.hp2 HG01884.hp1 others(11): Show HG01099.hp2 HG01496.hp2 HG01884.hp1 HG02055.hp2 HG02559.hp1 HG02622.hp1 HG02897.hp1 HG02965.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0248 a0001c0001t0001g0250 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0292 a0001c0001t0001g0343	14	366	0.0383	-64	c.222 others(81): Show c.222-1135_222-1072delGTGTGTATATATATATGTATATGTGTAT ATATGCATATATATGTGTATATGTGTATATATGCAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094317	TGCATATA others(57): Show TGCATATATACACATATACACATATATATGCATATATACACATATACATA TATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03579.hp2 others(1): Show HG03195.hp1 HG03540.hp1 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0352 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0352 a0001c0001t0001g0353	4	366	0.0109	-64	c.222 others(81): Show c.222-1137_222-1074delGTGTGTGTATATATATATGTATATGTGT ATATATGCATATATATGTGTATATGTGTATATATGC	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEMA4D_chr9_89372235_89503113	89483670	GGGTGTCA others(57): Show GGGTGTCACAGATAGTTAAGGGCGGCTGTTATGAGCAAAACTTACTGGCA TGTGTGCATCTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(88): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG03017.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0014 a0003c0005 a0006c0012	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(20): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0028 a0001c0001t0046 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0042 a0001c0004t0026 a0001c0004t0043 a0001c0004t0049 a0002c0002t0002 a0002c0002t0009 a0002c0002t0014 a0002c0002t0020 a0002c0002t0030 a0002c0002t0047 a0002c0014t0002 a0003c0005t0044 a0006c0012t0048	a0001c0001t0002g0291 a0001c0001t0002g0297 a0001c0001t0002g0325 others(88): Show a0001c0001t0002g0291 a0001c0001t0002g0297 a0001c0001t0002g0325 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0350 a0001c0001t0011g0292 a0001c0001t0011g0293 a0001c0001t0011g0298 a0001c0001t0011g0324 a0001c0001t0011g0348 a0001c0001t0011g0349 a0001c0001t0012g0308 a0001c0001t0012g0322 a0001c0001t0012g0331 a0001c0001t0012g0335 a0001c0001t0012g0344 a0001c0001t0012g0352 a0001c0001t0014g0289 a0001c0001t0014g0290 a0001c0001t0014g0294 a0001c0001t0027g0001 a0001c0001t0028g0004 a0001c0001t0046g0300 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0323 a0001c0003t0007g0107 a0001c0003t0007g0108 a0001c0003t0009g0285 a0001c0003t0042g0334 a0001c0004t0026g0338 a0001c0004t0026g0342 a0001c0004t0043g0319 a0001c0004t0049g0370 a0002c0002t0002g0288 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0299 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0320 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0333 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0340 a0002c0002t0002g0343 a0002c0002t0002g0345 a0002c0002t0002g0347 a0002c0002t0002g0351 a0002c0002t0002g0353 a0002c0002t0002g0359 a0002c0002t0002g0360 a0002c0002t0002g0361 a0002c0002t0002g0362 a0002c0002t0002g0363 a0002c0002t0002g0364 a0002c0002t0002g0366 a0002c0002t0002g0367 a0002c0002t0002g0368 a0002c0002t0002g0369 a0002c0002t0009g0303 a0002c0002t0009g0306 a0002c0002t0009g0310 a0002c0002t0009g0321 a0002c0002t0009g0328 a0002c0002t0014g0332 a0002c0002t0014g0365 a0002c0002t0020g0002 a0002c0002t0020g0003 a0002c0002t0030g0006 a0002c0002t0047g0346 a0002c0014t0002g0354 a0003c0005t0044g0284 a0006c0012t0048g0355	91	370	0.2460	-64	c.-31 others(85): Show c.-310+14185_-310+14248delACACAGATGCACACATGCCAGTAA GTTTTGCTCATAACAGCCGCCCTTAACTATCTGTGACACC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SERPINB9_chr6_2882270_2908309	2907238	TTGTGTGT others(57): Show TTGTGTGTGTGTGTGCTCGAGTACGTGTGTCAAGGTTGTGTGTGCTCGAG TACGTGTGTCAAGGT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02698.hp1 HG02004.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0084 a0001c0001t0081 a0001c0001t0084	a0001c0001t0081g0084 a0001c0001t0084g0083 a0001c0001t0081g0084 a0001c0001t0084g0083	2	462	0.0043	-64	c.-41 others(75): Show c.-4112_-4049delACCTTGACACACGTACTCGAGCACACACAACCTT GACACACGTACTCGAGCACACACACACACA	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding		3930		chr6	TogoVar
SERPINB9_chr6_2882270_2908309	2907520	GGTTGTGT others(57): Show GGTTGTGTGTGTGTGCTCGAGTACGTGTGTCGAGGTTGTGTGTGTGCTCG AGTACGTGTGTCGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0050 a0001c0001t0066g0050	1	462	0.0022	-64	c.-43 others(75): Show c.-4394_-4331delATCGACACACGTACTCGAGCACACACACAACCTC GACACACGTACTCGAGCACACACACACAAC	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding		4212		chr6	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	CTAAAGAC others(57): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAAC AGAGTGCCTGTAGGA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18972.hp1 HG02071.hp1 NA18972.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0018 a0001c0001t0001 a0006c0010t0018	a0001c0001t0001g0249 a0006c0010t0018g0139 a0001c0001t0001g0249 a0006c0010t0018g0139	2	376	0.0053	-64	c.331 others(81): Show c.331-2714_331-2651delTCCTACAGGCACTCTGTTTTGTAATGTC TTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3RF3_chr2_109124205_109509634	109199446	AATGGAAT others(57): Show AATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG ATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	172	0.0058	-64	c.573 others(83): Show c.573+69384_573+69447delTGGAATGGAATGGGATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHB_chr9_37910898_38074227	37918374	CGTGTGTA others(57): Show CGTGTGTAGGTGTTCTTGTGTGTGGAAGCAGTGTGGACCACTGAGGGCTG TGTGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 NA18522.hp2 HG02818.hp1 NA18522.hp2	a0001 a0008 a0001 a0008	a0001c0023 a0008c0022 a0001c0023 a0008c0022	a0001c0023t0071 a0008c0022t0070 a0001c0023t0071 a0008c0022t0070	a0001c0023t0071g0183 a0008c0022t0070g0182 a0001c0023t0071g0183 a0008c0022t0070g0182	2	330	0.0061	-64	c.13 others(75): Show c.1383_*1446delACACACACACACACACAGCCCTCAGTGGTCCACA CTGCTTCCACACACAAGAACACCTACACAC	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	6/6	1383		chr9	TogoVar
SHB_chr9_37910898_38074227	38073503	GAGTAGCA others(57): Show GAGTAGCATTATGATATAGTAGAAGTAGACGAGAGAATTCCATGCGGAGA GAGAGAGAGCAACAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0058 a0001c0004t0004g0058	1	330	0.0030	-64	c.-49 others(75): Show c.-4922_-4859delATGTTGCTCTCTCTCTCTCCGCATGGAATTCTCT CGTCTACTTCTACTATATCATAATGCTACT	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding		4277		chr9	TogoVar
SHOX_chrX_625791_656584	626150	GTCTGTAT others(57): Show GTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCT CTCTTTTTCTCTTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02257.hp1 others(17): Show HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 others(17): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0001t0046 a0001c0001t0090 a0001c0001t0091 a0001c0001t0104 a0001c0001t0157 a0001c0001t0161 a0001c0001t0164 a0001c0001t0179 a0001c0001t0182 a0001c0001t0183 a0001c0001t0187 a0001c0001t0189 a0001c0001t0196	a0001c0001t0007g0076 a0001c0001t0008g0117 a0001c0001t0016g0074 others(17): Show a0001c0001t0007g0076 a0001c0001t0008g0117 a0001c0001t0016g0074 a0001c0001t0019g0082 a0001c0001t0020g0072 a0001c0001t0029g0091 a0001c0001t0033g0006 a0001c0001t0046g0118 a0001c0001t0090g0084 a0001c0001t0091g0119 a0001c0001t0104g0079 a0001c0001t0157g0089 a0001c0001t0161g0086 a0001c0001t0164g0080 a0001c0001t0179g0116 a0001c0001t0182g0083 a0001c0001t0183g0081 a0001c0001t0187g0071 a0001c0001t0189g0067 a0001c0001t0196g0158	20	220	0.0909	-64	c.-47 others(75): Show c.-4747_-4684delTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTG TCTTCGTTCCTCTCTCTCTTTTTCTCTTTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4640		chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	CCCCTTCC others(57): Show CCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	175	0.0057	-64	c.295 others(83): Show c.2957+9273_2957+9336delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIRPB2_chr20_1469578_1496420	1486451	TTTTCTAA others(57): Show TTTTCTAATTATTCTATGAGTCCCAGTGTTATCTTGAAACCGAAGCCTTT TCCTTTCGAGAAAGG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	372	0.0027	-64	c.85+ others(79): Show c.85+4760_85+4823delCCTTTCTCGAAAGGAAAAGGCTTCGGTTTC AAGATAACACTGGGACTCATAGAATAATTAGAAA	SIRPB2	ENSG00000196209.13	transcript	ENST00000359801.8	protein_coding	1/4			chr20	TogoVar
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(57): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18947.hp1 NA18950.hp1 others(3): Show HG03490.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA19000.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0073 a0001c0001t0079 a0001c0001t0084	a0001c0001t0002g0242 a0001c0001t0003g0246 a0001c0001t0008g0210 others(3): Show a0001c0001t0002g0242 a0001c0001t0003g0246 a0001c0001t0008g0210 a0001c0001t0073g0216 a0001c0001t0079g0128 a0001c0001t0084g0112	6	330	0.0182	-64	c.970 others(83): Show c.970-21767_970-21704delACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281295	AGGACGCC others(57): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18998.hp2 HG02027.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0004 a0001c0001t0003 a0001c0009t0004	a0001c0001t0003g0163 a0001c0009t0004g0064 a0001c0001t0003g0163 a0001c0009t0004g0064	2	330	0.0061	-64	c.970 others(83): Show c.970-21680_970-21617delACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	TTTTCTTT others(57): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp1 HG03516.hp2 HG02615.hp2 HG03225.hp1 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0009 a0005c0006t0001g0010 a0005c0006t0001g0011 a0001c0001t0001g0009 a0005c0006t0001g0010 a0005c0006t0001g0011	3	350	0.0086	-64	c.377 others(81): Show c.377+5889_377+5952delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48240030	CATATATA others(57): Show CATATATATATATATATATCCATATATATATATATATATATCCATATATA TATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	266	0.0038	-64	c.121 others(83): Show c.1216-1468_1216-1405delATCCATATATATATATATATATATCC ATATATATATATATATATCCATATATATATATATATAT	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1047274	GGGTGGGT others(57): Show GGGTGGGTTAGTGTGTGAATGGATGAGTTAGTGTGTGAATGAGTGGGTTA GTGTGTGAATGAGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA19074.hp1 NA19091.hp1 HG02622.hp1 NA19074.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0012 a0002c0002t0008 a0001c0007t0012 a0002c0002t0008	a0001c0007t0012g0001 a0002c0002t0008g0099 a0002c0002t0008g0100 a0001c0007t0012g0001 a0002c0002t0008g0099 a0002c0002t0008g0100	3	118	0.0254	-64	c.50 others(75): Show c.5022_*5085delGACTCATTCACACACTAACCCACTCATTCACACA CTAACTCATCCATTCACACACTAACCCACC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		3109		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072448	CAGCCCCC others(57): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 NA19091.hp2 HG01884.hp1 HG02723.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0031 a0001c0001 a0001c0003 a0001c0031	a0001c0001t0023 a0001c0003t0003 a0001c0031t0003 a0001c0001t0023 a0001c0003t0003 a0001c0031t0003	a0001c0001t0023g0033 a0001c0003t0003g0005 a0001c0031t0003g0007 a0001c0001t0023g0033 a0001c0003t0003g0005 a0001c0031t0003g0007	3	118	0.0254	-64	c.224 others(83): Show c.2241+1121_2241+1184delCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072594	CAGCCCCC others(57): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03471.hp1 HG03710.hp2 others(1): Show HG02683.hp2 HG03471.hp1 HG03710.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0013 a0001c0001t0001 a0001c0005t0013	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0005t0013g0077	4	118	0.0339	-64	c.224 others(82): Show c.2241+975_2241+1038delCACTGGGGGCTGCATAAGTGTGATGCC CGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A9_chr10_59645764_59714850	59709503	TCCGGTGC others(57): Show TCCGGTGCTCAGCACCCGGCTCAGTGCCCCGTGCGGCCGGGCTGGTGGTG TGGTGGGGATCGCGG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0064 a0001c0001t0035g0064	1	352	0.0028	-64	c.-12 others(72): Show c.-125_-62delCCGCGATCCCCACCACACCACCAGCCCGGCCGCACGG GGCACTGAGCCGGGTGCTGAGCACCGG	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/6	25213		chr10	TogoVar
SLC19A1_chr21_45507565_45547440	45537442	GTGCCTAT others(57): Show GTGCCTATTCCAGAAGCTGCTCCCCGCCCACCCACAGGCGGCCGCCCAGC ACCCCGGTGCCCACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02055.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0035 a0001c0004t0010 a0001c0004t0035	a0001c0004t0010g0241 a0001c0004t0035g0228 a0001c0004t0010g0241 a0001c0004t0035g0228	2	318	0.0063	-64	c.189 others(79): Show c.189+265_189+328delTGTGGGCACCGGGGTGCTGGGCGGCCGCCT GTGGGTGGGCGGGGAGCAGCTTCTGGAATAGGCA	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	2/5			chr21	TogoVar
SLC26A4_chr7_107655828_107722809	107680236	TATATAAT others(57): Show TATATAATATAATCTTATTATATAATCTTATCTTATTATATAATATAATC TTATCTTATTATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02717.hp1 others(2): Show HG01891.hp1 HG02451.hp2 HG02717.hp1 HG03098.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0006t0006 a0003c0003t0003 a0001c0001t0001 a0001c0006t0006 a0003c0003t0003	a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0006t0006g0348 a0003c0003t0003g0016	5	366	0.0137	-64	c.766 others(81): Show c.766-2958_766-2895delATAATCTTATTATATAATCTTATCTTAT TATATAATATAATCTTATCTTATTATATAATATAAT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC2A12_chr6_133982581_134057624	134032405	AATATATA others(57): Show AATATATATATATATATATATTTATATATATATATATATATATAAATATA TATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01981.hp1 HG01993.hp2 HG01361.hp2 HG01981.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0225	3	338	0.0089	-64	c.104 others(81): Show c.104-2748_104-2685delAAAAATATATATATATATATTTATATAT ATATATATATATATAAATATATATATATATATATAT	SLC2A12	ENSG00000146411.6	transcript	ENST00000275230.6	protein_coding	1/4			chr6	TogoVar
SLC38A6_chr14_60976245_61057630	61050067	AAAAAGAA others(57): Show AAAAAGAAGTAGGTGTATGGCACTGCCCCTTTGTGTTATGTGATCTTAGG CAAATCATTTAACAC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0202 a0008c0011t0003g0202	1	320	0.0031	-64	c.926 others(79): Show c.926-444_926-381delAAAAGAAGTAGGTGTATGGCACTGCCCCTT TGTGTTATGTGATCTTAGGCAAATCATTTAACAC	SLC38A6	ENSG00000139974.17	transcript	ENST00000267488.9	protein_coding	12/15			chr14	TogoVar
SLC39A12_chr10_17946918_18048285	18033527	TGATTCTT others(57): Show TGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAAT TTTGTTGATCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0156 a0002c0003t0002g0156	1	368	0.0027	-64	c.194 others(83): Show c.1948-9177_1948-9114delGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTC	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12			chr10	TogoVar
SLC39A12_chr10_17946918_18048285	18041591	ATATATAT others(57): Show ATATATATGTGTATATATATGTATATACATATGTATATATGTGTATATAT ATGTATATACATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18970.hp1 NA18970.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0014	a0001c0001 a0001c0005 a0001c0006 others(17): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010 a0002c0003 a0002c0004 a0002c0007 a0002c0018 a0003c0002 a0003c0017 a0003c0020 a0003c0026 a0004c0013 a0004c0016 a0005c0008 a0006c0011 a0007c0009 a0008c0015 a0010c0019 a0014c0023	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(17): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0002c0003t0001 a0002c0004t0001 a0002c0007t0001 a0002c0018t0001 a0003c0002t0001 a0003c0017t0001 a0003c0020t0001 a0003c0026t0001 a0004c0013t0001 a0004c0016t0001 a0005c0008t0001 a0006c0011t0001 a0007c0009t0004 a0008c0015t0001 a0010c0019t0001 a0014c0023t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(115): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0005t0001g0160 a0001c0005t0001g0194 a0001c0005t0001g0223 a0001c0005t0001g0236 a0001c0005t0001g0256 a0001c0006t0001g0089 a0001c0006t0001g0274 a0001c0010t0001g0206 a0001c0010t0001g0243 a0001c0010t0001g0246 a0001c0010t0001g0247 a0002c0003t0001g0121 a0002c0003t0001g0166 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0191 a0002c0003t0001g0196 a0002c0003t0001g0203 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0254 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0275 a0002c0004t0001g0114 a0002c0004t0001g0119 a0002c0004t0001g0132 a0002c0004t0001g0133 a0002c0004t0001g0134 a0002c0004t0001g0136 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0146 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0150 a0002c0004t0001g0151 a0002c0004t0001g0266 a0002c0004t0001g0268 a0002c0004t0001g0271 a0002c0007t0001g0211 a0002c0007t0001g0212 a0002c0007t0001g0214 a0002c0007t0001g0215 a0002c0007t0001g0216 a0002c0018t0001g0055 a0002c0018t0001g0067 a0003c0002t0001g0004 a0003c0002t0001g0289 a0003c0002t0001g0300 a0003c0002t0001g0303 a0003c0002t0001g0304 a0003c0002t0001g0306 a0003c0002t0001g0307 a0003c0002t0001g0310 a0003c0002t0001g0316 a0003c0002t0001g0320 a0003c0002t0001g0331 a0003c0002t0001g0334 a0003c0002t0001g0335 a0003c0002t0001g0336 a0003c0002t0001g0337 a0003c0002t0001g0341 a0003c0002t0001g0342 a0003c0002t0001g0343 a0003c0002t0001g0347 a0003c0002t0001g0352 a0003c0002t0001g0357 a0003c0002t0001g0361 a0003c0002t0001g0362 a0003c0017t0001g0322 a0003c0020t0001g0324 a0003c0026t0001g0294 a0004c0013t0001g0327 a0004c0013t0001g0328 a0004c0013t0001g0329 a0004c0013t0001g0330 a0004c0016t0001g0338 a0005c0008t0001g0282 a0006c0011t0001g0263 a0007c0009t0004g0155 a0007c0009t0004g0249 a0007c0009t0004g0250 a0007c0009t0004g0251 a0007c0009t0004g0253 a0008c0015t0001g0312 a0008c0015t0001g0313 a0008c0015t0001g0314 a0008c0015t0001g0315 a0010c0019t0001g0261 a0014c0023t0001g0248	119	368	0.3234	-64	c.194 others(82): Show c.1948-1032_1948-969delATGTATATACATATGTATATATGTGTA TATATATGTATATACATATGTATATATGTGTATATAT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC5A11_chr16_24840963_24916626	24852836	TAGCTGAT others(57): Show TAGCTGATGCCTAATAAATGTTTGTTCTACTGAGTCCCCAGGGCCTAGCA CAGAGCATGGCACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(179): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0014 a0001c0017 a0001c0023 a0002c0003 a0002c0005 a0002c0012 a0002c0013 a0003c0006 a0003c0008 a0004c0016 a0004c0022 a0005c0024 a0006c0015 a0008c0020 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0007t0001 a0001c0014t0001 a0001c0017t0001 a0001c0023t0001 a0002c0003t0001 a0002c0005t0001 a0002c0005t0002 a0002c0005t0006 a0002c0012t0001 a0002c0013t0001 a0003c0006t0001 a0003c0006t0002 a0003c0008t0001 a0003c0008t0002 a0004c0016t0001 a0004c0022t0001 a0005c0024t0007 a0006c0015t0001 a0008c0020t0001 a0009c0021t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 others(179): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0378 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0004g0321 a0001c0001t0005g0319 a0001c0002t0001g0105 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0159 a0001c0002t0001g0244 a0001c0002t0001g0371 a0001c0002t0001g0372 a0001c0002t0002g0329 a0001c0004t0001g0007 a0001c0004t0001g0026 a0001c0004t0001g0102 a0001c0004t0001g0103 a0001c0004t0001g0137 a0001c0004t0001g0160 a0001c0004t0002g0322 a0001c0004t0002g0327 a0001c0004t0002g0330 a0001c0004t0002g0332 a0001c0004t0004g0320 a0001c0007t0001g0030 a0001c0007t0001g0128 a0001c0007t0001g0147 a0001c0007t0001g0305 a0001c0007t0001g0344 a0001c0014t0001g0165 a0001c0017t0001g0133 a0001c0023t0001g0130 a0002c0003t0001g0013 a0002c0003t0001g0034 a0002c0003t0001g0127 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0250 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0289 a0002c0005t0001g0031 a0002c0005t0001g0135 a0002c0005t0001g0141 a0002c0005t0001g0142 a0002c0005t0001g0144 a0002c0005t0001g0146 a0002c0005t0001g0214 a0002c0005t0001g0251 a0002c0005t0001g0362 a0002c0005t0002g0326 a0002c0005t0006g0143 a0002c0012t0001g0048 a0002c0013t0001g0028 a0003c0006t0001g0017 a0003c0006t0001g0018 a0003c0006t0001g0019 a0003c0006t0001g0161 a0003c0006t0001g0162 a0003c0006t0002g0328 a0003c0008t0001g0099 a0003c0008t0001g0100 a0003c0008t0001g0111 a0003c0008t0001g0132 a0003c0008t0001g0138 a0003c0008t0002g0335 a0004c0016t0001g0024 a0004c0022t0001g0245 a0005c0024t0007g0249 a0006c0015t0001g0041 a0008c0020t0001g0039 a0009c0021t0001g0101	182	378	0.4815	-64	c.-24 others(81): Show c.-24-5749_-24-5686delCCCCAGGGCCTAGCACAGAGCATGGCAC ACAGCTGATGCCTAATAAATGTTTGTTCTACTGAGT	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24853238	GTTTCACT others(57): Show GTTTCACTGAGTCCCCAGGGCCTAGTACAGAGCCTGGTACATAGTTGGTG CCTAATAAATGTTTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00673.hp1 others(83): Show HG00438.hp2 HG00609.hp2 HG00673.hp1 HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01257.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02165.hp2 HG02273.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02976.hp2 HG03017.hp1 HG03453.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0005 a0003c0008 a0005c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0002c0003t0001 a0002c0005t0001 a0003c0008t0002 a0005c0024t0007	a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0051 others(83): Show a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0001g0166 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0378 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0145 a0001c0002t0002g0329 a0001c0007t0001g0030 a0001c0007t0001g0147 a0002c0003t0001g0250 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0289 a0002c0005t0001g0251 a0003c0008t0002g0335 a0005c0024t0007g0249	86	378	0.2275	-64	c.-24 others(81): Show c.-24-5335_-24-5272delGTGCCTAATAAATGTTTATTTCACTGAG TCCCCAGGGCCTAGTACAGAGCCTGGTACATAGTTG	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC66A2_chr18_79897420_79956653	79910206	TAGAGTCC others(57): Show TAGAGTCCCCAACCTTCCCCACATCCTCACCATAGTCACCAACCTTCCCC ACCATCTCACACCAG	T T	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0325 a0001c0001t0012g0325	1	352	0.0028	-64	c.609 others(81): Show c.609-6087_609-6024delCTGGTGTGAGATGGTGGGGAAGGTTGGT GACTATGGTGAGGATGTGGGGAAGGTTGGGGACTCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SLC6A12_chr12_185081_219157	192888	CAGGAGGC others(57): Show CAGGAGGCGATACAAAGGAAGGGAGGGGCTCGGAAGAGCATCATTCACAT CACAGACGGAGACAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0384 a0002c0005t0002g0384	1	420	0.0024	-64	c.153 others(81): Show c.1531-304_1531-241delCTGTCTCCGTCTGTGATGTGAATGATGC TCTTCCGAGCCCCTCCCTTCCTTTGTATCGCCTCCT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	14/15			chr12	TogoVar

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