Joint Open Genome and Omics Platform (JoGo)

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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
SLC6A12_chr12_185081_219157	187589	C C	CAAAAGAG others(25): Show CAAAAGAGCAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0353 a0003c0008t0005g0353	1	195	0.0051	32	c.34 others(43): Show c.3478_*3479insTTTTTTTTTTTTTTTTTTTTTTTTGCTCTTTT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		2491		chr12	TogoVar
SLC6A16_chr19_49284638_49330191	49286263	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	50	0.0200	32	c.38 others(43): Show c.3859_*3860insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding		3374		chr19	TogoVar
SLC6A1_chr3_10987748_11044247	11029987	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	432	0.0023	32	c.132 others(49): Show c.1323+638_1323+639insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A20_chr3_45750449_45801536	45785613	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	50	0.0200	32	c.122 others(49): Show c.122-3422_122-3391dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SLC6A20	ENSG00000163817.17	transcript	ENST00000358525.9	protein_coding	1/10			chr3	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0158 a0001c0001t0086g0158	1	174	0.0057	32	c.278 others(49): Show c.278-1287_278-1286insAAAAAATATATATATATATATATATATA TATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0186 a0001c0002t0009g0186	1	174	0.0057	32	c.278 others(49): Show c.278-1287_278-1286insAAAAAAAAAAAAAATATATATATATATA TATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18962.hp2 NA19054.hp1 others(1): Show HG01099.hp2 NA18962.hp2 NA19054.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0140 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0140 a0001c0001t0001g0217 a0001c0001t0001g0302	4	33	0.1212	32	c.-11 others(51): Show c.-114-1498_-114-1497insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87863986	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp2 HG01517.hp2 others(1): Show HG00639.hp1 HG01515.hp2 HG01517.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0013 a0001c0002t0001 a0001c0001t0007 a0001c0001t0013 a0001c0002t0001	a0001c0001t0007g0343 a0001c0001t0007g0344 a0001c0001t0013g0218 others(1): Show a0001c0001t0007g0343 a0001c0001t0007g0344 a0001c0001t0013g0218 a0001c0002t0001g0054	4	15	0.2667	32	c.538 others(49): Show c.538+4898_538+4899insATATATATATATATATATATATATATAT ATAT	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A6_chr16_68259526_68306819	68291762	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19060.hp1 NA18940.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0064 a0001c0001t0003g0055 a0001c0001t0003g0064	2	58	0.0345	32	c.102 others(49): Show c.1022+108_1022+139dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC7A7_chr14_22768222_22820435	22812773	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp2 NA18940.hp2 others(1): Show HG00741.hp2 HG02109.hp2 NA18940.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0002 a0001c0004t0007 a0001c0005t0002 a0001c0002t0002 a0001c0004t0007 a0001c0005t0002	a0001c0002t0002g0359 a0001c0002t0002g0360 a0001c0004t0007g0358 others(1): Show a0001c0002t0002g0359 a0001c0002t0002g0360 a0001c0004t0007g0358 a0001c0005t0002g0361	4	116	0.0345	32	c.499 others(47): Show c.499+126_499+127insTATATATATATATATATATATATATATATA TA	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC8A1_chr2_40092270_40457090	40200173	G G	GAGATATA others(25): Show GAGATATATATAAATATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 NA18939.hp2 HG01192.hp1 HG01891.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0025 a0001c0001t0142 a0001c0003t0165 a0001c0001t0025 a0001c0001t0142 a0001c0003t0165	a0001c0001t0025g0107 a0001c0001t0142g0017 a0001c0003t0165g0070 a0001c0001t0025g0107 a0001c0001t0142g0017 a0001c0003t0165g0070	3	151	0.0199	32	c.180 others(53): Show c.1809-21681_1809-21680insATATATTTATATATATATATTTAT ATATATCT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40287582	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0106 a0001c0001t0078 a0001c0001t0106	a0001c0001t0078g0064 a0001c0001t0106g0213 a0001c0001t0078g0064 a0001c0001t0106g0213	2	39	0.0513	32	c.180 others(55): Show c.1809-109121_1809-109090dupCACACACACACACACACACACA CACACACACA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A2_chr19_47423017_47476893	47439617	T T	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0237 a0001c0001t0017g0237	1	13	0.0769	32	c.188 others(51): Show c.1885+1551_1885+1552insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	6/9			chr19	TogoVar
SLC8A3_chr14_70039215_70193951	70192043	T T	TATTATTA others(25): Show TATTATTAATTATTATTATTAATAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 NA19030.hp1 HG02486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0062 a0001c0001t0027 a0001c0001t0062	a0001c0001t0027g0111 a0001c0001t0062g0122 a0001c0001t0027g0111 a0001c0001t0062g0122	2	210	0.0095	32	c.-37 others(43): Show c.-3728_-3727insTATTATTATTATTAATAATAATAATTAATAAT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3093		chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192061	T T	TTAATAAT others(25): Show TTAATAATAATAATAATTATTAATTATTATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01256.hp2 HG01261.hp1 others(12): Show HG00323.hp1 HG01256.hp2 HG01261.hp1 HG01496.hp1 HG01934.hp2 HG02300.hp1 HG02523.hp1 HG02717.hp1 HG02895.hp1 HG03139.hp2 HG04184.hp2 NA18951.hp1 NA18986.hp1 NA19091.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0015 a0001c0001 a0001c0005 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0039 a0001c0001t0051 a0001c0005t0003 a0003c0015t0010	a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 others(12): Show a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0237 a0001c0001t0002g0198 a0001c0001t0002g0238 a0001c0001t0004g0172 a0001c0001t0005g0230 a0001c0001t0008g0127 a0001c0001t0008g0236 a0001c0001t0039g0160 a0001c0001t0051g0164 a0001c0005t0003g0179 a0003c0015t0010g0194	15	184	0.0815	32	c.-37 others(43): Show c.-3746_-3745insTTAATAATAATTAATAATTATTATTATTATTA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3111		chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192061	T T	TTAATAAT others(25): Show TTAATAATAATAATTATTATTAATTATTATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0235 a0001c0001t0010g0235	1	170	0.0059	32	c.-37 others(43): Show c.-3746_-3745insTTAATAATAATTAATAATAATTATTATTATTA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3111		chr14	TogoVar
SLC9A2_chr2_102614553_102716355	102632239	C C	CATATATA others(25): Show CATATATATATATTTATTATATATATAATACAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0008 a0001c0001t0023g0008	1	314	0.0032	32	c.289 others(51): Show c.289+12114_289+12115insTTATTATATATATAATACATATATAT ATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A2_chr2_102614553_102716355	102646768	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp2 HG02965.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0031 a0001c0001t0007 a0001c0001t0031	a0001c0001t0007g0328 a0001c0001t0031g0117 a0001c0001t0007g0328 a0001c0001t0031g0117	2	98	0.0204	32	c.290 others(51): Show c.290-10774_290-10773insATATATATATATATATATATATATAT ATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A2_chr2_102614553_102716355	102671233	C C	CCTCACAA others(25): Show CCTCACAAGGTAACATTGCCTCACAAGGCAATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0178 a0001c0001t0028g0178	1	339	0.0029	32	c.100 others(51): Show c.1004+5883_1004+5884insCTCACAAGGTAACATTGCCTCACAAG GCAATT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	3/11			chr2	TogoVar
SLC9A3_chr5_465456_529449	500881	A A	AGTGTGGA others(25): Show AGTGTGGACATGGGGTCGGTGTGGATGGGGCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00735.hp1 others(75): Show HG00099.hp1 HG00558.hp1 HG00735.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01891.hp1 HG01993.hp1 HG01993.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18973.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0010	a0001c0001 a0001c0003 a0001c0007 others(15): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0026 a0001c0030 a0001c0031 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0010 a0002c0011 a0005c0012 a0006c0016 a0007c0022 a0010c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0030 a0001c0001t0031 a0001c0003t0008 a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 a0001c0008t0001 a0001c0008t0005 a0001c0009t0008 a0001c0026t0012 a0001c0030t0008 a0001c0031t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0020 a0002c0004t0006 a0002c0004t0015 a0002c0004t0025 a0002c0005t0006 a0002c0006t0006 a0002c0006t0026 a0002c0010t0003 a0002c0010t0028 a0002c0011t0002 a0002c0011t0003 a0005c0012t0013 a0006c0016t0002 a0007c0022t0005 a0010c0015t0007	a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0046 others(74): Show a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0004g0055 a0001c0001t0004g0138 a0001c0001t0005g0166 a0001c0001t0005g0180 a0001c0001t0005g0190 a0001c0001t0014g0060 a0001c0001t0014g0061 a0001c0001t0030g0169 a0001c0001t0031g0198 a0001c0003t0008g0152 a0001c0007t0001g0043 a0001c0007t0001g0045 a0001c0007t0005g0187 a0001c0007t0012g0176 a0001c0008t0001g0158 a0001c0008t0005g0208 a0001c0008t0005g0216 a0001c0009t0008g0151 a0001c0026t0012g0212 a0001c0030t0008g0150 a0001c0031t0004g0159 a0002c0002t0002g0034 a0002c0002t0002g0049 a0002c0002t0002g0076 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0186 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0202 a0002c0002t0003g0206 a0002c0002t0003g0211 a0002c0002t0003g0217 a0002c0002t0020g0114 a0002c0004t0006g0209 a0002c0004t0015g0037 a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0006g0213 a0002c0005t0006g0214 a0002c0005t0006g0215 a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047 a0002c0010t0003g0201 a0002c0010t0028g0189 a0002c0011t0002g0011 a0002c0011t0003g0195 a0005c0012t0013g0054 a0005c0012t0013g0132 a0006c0016t0002g0017 a0007c0022t0005g0210 a0010c0015t0007g0004	78	214	0.3645	32	c.212 others(49): Show c.212-8811_212-8810insCGGCCCCATCCACACCGACCCCATGTCC ACAC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	500897	C C	CGGTGTGG others(25): Show CGGTGTGGATGGGGCCGGTGTGGACATGGGTCG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0168 a0002c0002t0003g0168	1	216	0.0046	32	c.212 others(49): Show c.212-8827_212-8826insCGACCCATGTCCACACCGGCCCCATCCA CACC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A6_chrX_135980435_136052269	136047449	C C	CTATATCC others(25): Show CTATATCCAGTTAGGTGGGAAGGCAGTTCCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	197	0.0051	32	c.27 others(43): Show c.2725_*2726insTATATCCAGTTAGGTGGGAAGGCAGTTCCAAG	SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding		181		chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49884233	C C	CACACGAC others(25): Show CACACGACACACACACAGACACACACACACACG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	331	0.0030	32	c.149 others(49): Show c.1491+171_1491+172insGACACACACACAGACACACACACACACG ACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884274	G G	GACACACA others(25): Show GACACACACACACGACACACACACACGACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02615.hp2 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0122 a0001c0003t0001g0057 a0001c0003t0001g0122	2	272	0.0074	32	c.149 others(49): Show c.1491+220_1491+221insGACACACACACACGACACACACACACAC ACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143764971	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	45	0.0222	32	c.533 others(51): Show c.533+30029_533+30030insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15			chr3	TogoVar
SLC9C1_chr3_112135898_112299216	112271393	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG02056.hp1 others(7): Show HG00642.hp1 HG01261.hp1 HG02056.hp1 HG02132.hp2 HG02896.hp1 HG02897.hp2 HG03688.hp1 NA18960.hp2 NA18963.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0095 a0001c0002t0001g0096 others(6): Show a0001c0002t0001g0004 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0141 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310	10	156	0.0641	32	c.614 others(49): Show c.614-1317_614-1316insTATATATATATATATATATATATATATA TATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	6/28			chr3	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(25): Show GTATGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01256.hp2 HG01496.hp2 others(9): Show HG01099.hp1 HG01256.hp2 HG01496.hp2 HG02040.hp2 HG02165.hp2 HG02602.hp2 HG03927.hp1 HG04204.hp1 NA18955.hp2 NA18979.hp1 NA18986.hp1 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0004 a0001c0001t0001 a0001c0001t0004 a0002c0003t0004	a0001c0001t0001g0040 a0001c0001t0001g0128 a0001c0001t0001g0149 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0128 a0001c0001t0001g0149 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0004g0121 a0002c0003t0004g0120	12	81	0.1481	32	c.21 others(43): Show c.2187_*2188insTATGTGTGTGTATATATATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(25): Show GTATGTGTGTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 NA20905.hp1 HG02148.hp1 NA20905.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0012 a0001c0001 a0016c0012	a0001c0001t0001 a0016c0012t0001 a0001c0001t0001 a0016c0012t0001	a0001c0001t0001g0135 a0016c0012t0001g0163 a0001c0001t0001g0135 a0016c0012t0001g0163	2	71	0.0282	32	c.21 others(43): Show c.2187_*2188insTATGTGTGTGTGTATATATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(25): Show GTATGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0143 a0002c0002t0002g0143	1	70	0.0143	32	c.21 others(43): Show c.2187_*2188insTATGTGTGTGTGTGTATATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(25): Show GTATGTGTGTGTGTGTGTGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0006 a0015c0022t0006	a0015c0022t0006g0101 a0015c0022t0006g0101	1	70	0.0143	32	c.21 others(43): Show c.2187_*2188insTATGTGTGTGTGTGTGTGTGTATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	91957044	T T	TATATATT others(25): Show TATATATTATATATATAATATATAGTATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0013 a0001c0001t0039g0013	1	188	0.0053	32	c.646 others(51): Show c.646+40592_646+40593insTATATATATAATATATAGTATATATA ATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(25): Show TAGATAGATAGATTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	96	0.0104	32	c.647 others(51): Show c.647-78627_647-78626insAGATAGATAGATTAGATAGATAGATA GATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666115	C C	CCCCGCCC others(25): Show CCCCGCCCCCCCCTTCCCCTTCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19009.hp2 HG01952.hp1 NA19009.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0003 a0001c0001t0002 a0004c0005t0003	a0001c0001t0002g0201 a0004c0005t0003g0169 a0001c0001t0002g0201 a0004c0005t0003g0169	2	349	0.0057	32	c.127 others(49): Show c.1277-263_1277-262insCGCCCCCCCCTTCCCCTTCCCCTTCCCC TTCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(25): Show GCCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp2 HG01433.hp2 others(11): Show HG01168.hp1 HG01168.hp2 HG01433.hp2 HG01928.hp1 HG01978.hp1 HG02027.hp1 HG03491.hp1 NA18940.hp1 NA18974.hp1 NA18992.hp2 NA18994.hp2 NA19004.hp2 NA19074.hp2 NA19086.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0002c0002t0003 a0004c0005t0002	a0001c0001t0002g0018 a0001c0001t0002g0078 a0001c0001t0002g0083 others(10): Show a0001c0001t0002g0018 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0301 a0001c0001t0003g0184 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0016g0173 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0144 a0004c0005t0002g0174	14	152	0.0921	32	c.127 others(49): Show c.1277-261_1277-260insCCCCCCCCTTCCCCTTCCCCTTCCCCTT CCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(25): Show GCCCCCCCCCTTCCCCTTTCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	139	0.0072	32	c.127 others(49): Show c.1277-261_1277-260insCCCCCCCCTTCCCCTTTCCCTTCCCCTT CCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666130	C C	CCTTCCCC others(25): Show CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0003 a0017c0035t0003	a0017c0035t0003g0195 a0017c0035t0003g0195	1	430	0.0023	32	c.127 others(49): Show c.1277-224_1277-223insTCCCCTCTTCCCCTTCCCCTTCCCCTTC CCCT	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO5A1_chr8_69662046_69839978	69784811	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0173 a0001c0001t0043g0173	1	38	0.0263	32	c.908 others(51): Show c.908-22968_908-22937dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO5A1_chr8_69662046_69839978	69784848	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0223 a0002c0002t0016g0223	1	275	0.0036	32	c.908 others(51): Show c.908-22974_908-22973insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO6A1_chr5_102366774_102504001	102383094	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	114	0.0088	32	c.201 others(51): Show c.2017+5593_2017+5594insTATATATATATATATATATATATATA TACACA	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	12/13			chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(25): Show TATATATAAAAATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	114	0.0088	32	c.113 others(51): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATTTTT ATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13			chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0256 a0002c0003t0001g0256	1	114	0.0088	32	c.113 others(51): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATATAT ATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13			chr5	TogoVar
SLFN14_chr17_35538985_35565819	35552659	T T	TATACACA others(25): Show TATACACATATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18951.hp1 NA18953.hp2 others(2): Show NA18747.hp2 NA18951.hp1 NA18953.hp2 NA19009.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0023 a0001c0001t0001g0072 a0001c0001t0037g0071 a0001c0001t0001g0023 a0001c0001t0001g0072 a0001c0001t0037g0071	5	242	0.0207	32	c.190 others(47): Show c.1904+70_1904+71insGTATATATATATGTGTATATATATATGTGT AT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding	5/5			chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561741	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0008 a0018c0028t0008	a0018c0028t0008g0051 a0018c0028t0008g0051	1	351	0.0028	32	c.-10 others(43): Show c.-1099_-1098insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		923		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0048 a0002c0016t0002g0048	1	197	0.0051	32	c.-11 others(43): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0129 a0002c0002t0034g0129	1	280	0.0036	32	c.-11 others(43): Show c.-1107_-1106insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLIRP_chr14_77703103_77722598	77721880	T T	TGGGGGGG others(25): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	32	c.43 others(43): Show c.4319_*4320insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	SLIRP	ENSG00000119705.10	transcript	ENST00000557342.6	protein_coding		4283		chr14	TogoVar
SLIT1_chr10_96993038_97190959	97166569	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19087.hp2 HG00438.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0154 a0001c0004t0001g0210 a0001c0001t0001g0154 a0001c0004t0001g0210	2	96	0.0208	32	c.198 others(49): Show c.198-1711_198-1680dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0033 a0001c0005t0033	a0001c0005t0033g0134 a0001c0005t0033g0134	1	62	0.0161	32	c.395 others(51): Show c.395+38282_395+38283insCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01123.hp1 others(11): Show HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01361.hp1 HG01516.hp1 HG01978.hp2 HG01981.hp1 HG02293.hp1 HG03017.hp2 HG04184.hp2 NA18944.hp2 NA18964.hp1 NA19010.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0006 a0001c0008t0001	a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0107 others(11): Show a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0003g0101 a0001c0001t0005g0097 a0001c0001t0005g0163 a0001c0001t0006g0082 a0001c0001t0006g0127 a0001c0001t0020g0095 a0001c0002t0001g0109 a0001c0002t0003g0139 a0001c0002t0009g0102 a0001c0003t0006g0141 a0001c0008t0001g0138	14	75	0.1867	32	c.395 others(51): Show c.395+38282_395+38283insCTCCCTCCTTCCTTCCTTCCTTCCTT CCTTCC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472317	T T	TATATAGA others(25): Show TATATAGATATATATCTATATATCGATATATAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02717.hp2 HG02922.hp2 others(1): Show HG01106.hp2 HG02717.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0024 a0001c0001 a0001c0002 a0001c0024	a0001c0001t0027 a0001c0002t0016 a0001c0002t0026 others(1): Show a0001c0001t0027 a0001c0002t0016 a0001c0002t0026 a0001c0024t0004	a0001c0001t0027g0033 a0001c0002t0016g0126 a0001c0002t0026g0011 others(1): Show a0001c0001t0027g0033 a0001c0002t0016g0126 a0001c0002t0026g0011 a0001c0024t0004g0211	4	43	0.0930	32	c.467 others(49): Show c.467+4499_467+4500insGATATATATCTATATATCGATATATAGA TATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar

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