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
SESN1_chr6_108979309_109099846	109047027	A A	ATCCGGGA others(91): Show ATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCA TCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCATGCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(22): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00639.hp2 HG00738.hp1 HG01123.hp2 HG01175.hp1 HG01257.hp1 HG01433.hp2 HG01952.hp1 HG02735.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 NA18951.hp2 NA18998.hp2 NA19007.hp1 NA19063.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0049 a0002c0002t0002g0013 a0002c0002t0002g0014 others(22): Show a0001c0001t0001g0049 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0129	25	175	0.1429	98	c.280 others(117): Show c.280-44685_280-44684insCGGCATGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGCT GACCCCCCACCTCCCTCCCGGA	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109047027	A A	ATCCGGGA others(91): Show ATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCA TCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0182 a0001c0003t0002g0182	1	151	0.0066	98	c.280 others(117): Show c.280-44685_280-44684insCGGCACGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGCT GACCCCCCACCTCCCTCCCGGA	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SFMBT2_chr10_7153624_7416034	7378314	G G	GGATGGAT others(91): Show GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02818.hp2 HG03041.hp2 others(3): Show HG01255.hp2 HG02818.hp2 HG03041.hp2 HG03209.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0006 a0001c0003t0027	a0001c0001t0002g0039 a0001c0002t0001g0036 a0001c0002t0002g0037 others(3): Show a0001c0001t0002g0039 a0001c0002t0001g0036 a0001c0002t0002g0037 a0001c0002t0012g0108 a0001c0003t0006g0035 a0001c0003t0027g0034	6	94	0.0638	98	c.100 others(115): Show c.100+3387_100+3484dupACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCATCACCCATCCACACATACACCCACACACACC CACACTCACACCCATCCATC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar
SGIP1_chr1_66529153_66756139	66630829	A A	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0272 a0002c0002t0003g0272	1	291	0.0034	98	c.75- others(113): Show c.75-2222_75-2221insGAGAGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630844	A A	AAAGAAAG others(91): Show AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0137 a0002c0003t0005g0137	1	300	0.0033	98	c.75- others(113): Show c.75-2202_75-2201insGAGAGAGAGAGAGAGAGAGAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAAGAAAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	63	0.0159	98	c.286 others(117): Show c.286-24983_286-24982insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGSM2_chr17_2332501_2386054	2356430	G G	GGGGGAAG others(91): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0124 a0002c0012t0001g0124	1	419	0.0024	98	c.134 others(115): Show c.134-5203_134-5202insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356476	G G	GGTTGGGG others(91): Show GGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01891.hp2 others(22): Show HG00099.hp1 HG01099.hp2 HG01891.hp2 HG02056.hp1 HG02083.hp1 HG02258.hp2 HG02280.hp1 HG02976.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03710.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18992.hp1 NA19010.hp2 NA19011.hp1 NA19077.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0012 a0004c0010 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016 a0001c0005t0002 a0002c0012t0001 a0004c0010t0001 a0004c0011t0001	a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0329 others(20): Show a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0329 a0001c0001t0002g0380 a0001c0001t0009g0352 a0001c0003t0001g0223 a0001c0003t0001g0305 a0001c0003t0001g0322 a0001c0003t0001g0335 a0001c0003t0001g0353 a0001c0003t0001g0360 a0001c0003t0001g0362 a0001c0003t0001g0370 a0001c0003t0001g0384 a0001c0003t0002g0005 a0001c0003t0002g0272 a0001c0003t0002g0378 a0001c0003t0016g0264 a0001c0005t0002g0005 a0001c0005t0002g0014 a0002c0012t0001g0369 a0004c0010t0001g0347 a0004c0011t0001g0382	25	414	0.0604	98	c.134 others(115): Show c.134-5154_134-5153insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGAGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3BP5_chr3_15249353_15337586	15272534	C C	CATTACAA others(91): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CTGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01934.hp2 NA20905.hp1 HG01361.hp1 HG01934.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001	a0001c0001t0003g0134 a0001c0002t0001g0259 a0002c0003t0001g0157 a0001c0001t0003g0134 a0001c0002t0001g0259 a0002c0003t0001g0157	3	321	0.0093	98	c.331 others(115): Show c.331-2755_331-2658dupATGTCTTTATCCTACGGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTA CAGGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368496	T T	TTATATAT others(91): Show TTATATATATATATATATAAAATATATATATATTATATATATATATATAT AAAATATATATATATTATATATATATATATATAAAATATATATATATTA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0068 a0001c0002t0007g0068	1	239	0.0042	98	c.427 others(115): Show c.427+5293_427+5294insTAATATATATATATTTTATATATATATA TATATAATATATATATATTTTATATATATATATATATAATATATATATAT TTTATATATATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109199495	G G	GAATGGAA others(91): Show GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GAATGGAATGGAATGGAATGGAGAATGGAATGGAATGGAATGGAATGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	157	0.0064	98	c.573 others(117): Show c.573+69383_573+69384insATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAGAATGG AATGGAATGGAATGGAATGGAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC3_chr9_89000771_89183818	89059755	G G	GGTGGTGG others(91): Show GGTGGTGGAGGACAGTGGTGGAGGACATGGTGGAGGATGGTGGTGGAGGA TATGATATAGGATGTGGTGGAGGACGTTCTAGAAGACGTGGTGGAGGAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01071.hp2 others(13): Show HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01993.hp1 HG02148.hp2 HG02300.hp1 HG02886.hp2 HG03209.hp2 HG03225.hp2 HG03704.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0023 a0001c0003t0001 others(4): Show a0001c0001t0004 a0001c0001t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0003t0047	a0001c0001t0004g0068 a0001c0001t0023g0024 a0001c0003t0001g0009 others(12): Show a0001c0001t0004g0068 a0001c0001t0023g0024 a0001c0003t0001g0009 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0002g0002 a0001c0003t0002g0019 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0014 a0001c0003t0004g0021 a0001c0003t0010g0010 a0001c0003t0047g0007	16	60	0.2667	98	c.835 others(115): Show c.835+5773_835+5774insATCCTCCACCACGTCTTCTAGAACGTCC TCCACCACATCCTATATCATATCCTCCACCACCATCCTCCACCATGTCCT CCACCACTGTCCTCCACCAC	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	6/11			chr9	TogoVar
SHISA5_chr3_48462876_48509174	48483722	C C	CCCCCCCA others(91): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01109.hp1 others(37): Show HG00544.hp2 HG00609.hp1 HG01109.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02280.hp1 HG02622.hp1 HG02630.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG06807.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18963.hp1 NA19000.hp1 NA19065.hp1 NA19070.hp1 NA19076.hp1 NA19079.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0029 others(36): Show a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0006g0089 a0001c0004t0001g0035 a0002c0003t0001g0028	40	52	0.7692	98	c.234 others(115): Show c.234-4466_234-4465insCTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGG	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48483722	C C	CCCCCCCA others(91): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19012.hp2 NA19003.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0018 a0001c0001t0004g0019	2	14	0.1429	98	c.234 others(115): Show c.234-4466_234-4465insCTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGG	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48483722	C C	CCCCCCCA others(91): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCTGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG03225.hp2 others(1): Show HG02145.hp1 HG02970.hp2 HG03225.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0001t0003 a0001c0002t0005	a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0002t0005g0103 others(1): Show a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0002t0005g0103 a0001c0002t0005g0104	4	16	0.2500	98	c.234 others(115): Show c.234-4466_234-4465insCTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCAGCCAGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGG	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	12970408	T T	TATATATA others(91): Show TATATATACATATATGTATATATATATATACATATATATATACATATATG TATATATATATATACATATATATATACATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0181 a0001c0002t0009g0181	1	161	0.0062	98	c.691 others(117): Show c.691+53600_691+53601insCATATATGTATATATATATATACATA TATATATACATATATGTATATATATATATACATATATATATACATATATG TATATATATATATACATATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHOX_chrX_625791_656584	626356	C C	CTCTCTCT others(91): Show CTCTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCT CTCTCTCTTTTTCTCTGTCTCTGTATCTCTGTCTATCTCTGTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0171	a0001c0001t0171g0072 a0001c0001t0171g0072	1	218	0.0046	98	c.-45 others(109): Show c.-4542_-4541insTCTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGT CTCTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCTGTATCTCTGTCTA TCTCTGTCTCTCTT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4434		chrX	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(91): Show AGAAAGAAAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG AGGGAGGGAGGGAGGAAGAGGAAGGAAGTAGGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	299	0.0033	98	c.378 others(115): Show c.378-3863_378-3862insCCTTCCTTCCTTCCTTCCCTACTTCCTT CCTCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTCTTTTTCTTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1115869	T T	TGGGAAGG others(91): Show TGGGAAGGGAGGAGAGGGAAGGGAGGAGAGGGAAGGGAGGAGAGGGAAGG GAGGAGAGGGAAGGGAGGAGAGGGAAGGGAGGAGAGGGAAGGGAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0075 a0002c0012t0003g0075	1	105	0.0095	98	c.-38 others(109): Show c.-3879_-3878insTCTCCTCCCTTCCCTCTCCTCCCTTCCCTCTCCT CCCTTCCCTCTCCTCCCTTCCCTCTCCTCCCTTCCCTCTCCTCCCTTCCC TCTCCTCCCTTCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		3807		chr5	TogoVar
SLC22A24_chr11_63074940_63149221	63092529	C C	CATGGTAC others(91): Show CATGGTACTGATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATGGAACAGAACAGAGACCTCAGAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02273.hp1 HG02698.hp1 others(10): Show HG01975.hp1 HG02273.hp1 HG02698.hp1 HG02965.hp1 HG03654.hp1 NA18951.hp2 NA18967.hp1 NA19002.hp2 NA19004.hp1 NA19056.hp2 NA19063.hp2 NA19070.hp1 NA19075.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 a0007c0009t0006	a0001c0001t0001g0156 a0001c0001t0001g0231 a0002c0002t0001g0100 others(9): Show a0001c0001t0001g0156 a0001c0001t0001g0231 a0002c0002t0001g0100 a0002c0002t0001g0143 a0002c0002t0001g0200 a0002c0002t0001g0264 a0002c0002t0001g0268 a0003c0003t0002g0003 a0003c0003t0002g0029 a0003c0003t0002g0049 a0004c0004t0001g0126 a0007c0009t0006g0353	13	32	0.4063	98	c.107 others(117): Show c.1070+3461_1070+3462insTTCTGAGGTCTCTGTTCTGTTCCATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATCAGTACCAT	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	6/9			chr11	TogoVar
SLC25A17_chr22_40764630_40824346	40821796	A A	ATATATAC others(91): Show ATATATACGTATATATGTATACATATATACGTATATATACGTATATATGT ATACATATATACGTATATATATACGTATATATATACACATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	323	0.0062	98	c.-25 others(109): Show c.-2549_-2548insCGTATATATATGTGTATATATATACGTATATATA TACGTATATATGTATACATATATACGTATATATACGTATATATGTATACA TATATACGTATATA	SLC25A17	ENSG00000100372.15	transcript	ENST00000435456.7	protein_coding		2451		chr22	TogoVar
SLC28A1_chr15_84879662_84950798	84928551	T T	TTTCTTTC others(91): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0028 a0003c0001t0001g0028	1	364	0.0027	98	c.108 others(117): Show c.1083+4477_1083+4478insCTCTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928555	T T	TTTCTTTC others(91): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0081 a0003c0001t0001g0081	1	377	0.0027	98	c.108 others(117): Show c.1083+4481_1083+4482insCTCTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A2_chr3_170991347_171031720	171019129	G G	GTATATAT others(91): Show GTATATATATATATATATATATATACGTATGTATATATATATATATATAT ATATACGTATGTATATATATATATATATATATATATACGTATGTATATA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	288	0.0035	98	c.16- others(111): Show c.16-507_16-506insTATATACATACGTATATATATATATATATATA TATATACATACGTATATATATATATATATATATATACATACGTATATATA TATATATATATATATA	SLC2A2	ENSG00000163581.14	transcript	ENST00000314251.8	protein_coding	1/10			chr3	TogoVar
SLC2A9_chr4_9821224_10026497	9874871	T T	TCTTTAGA others(91): Show TCTTTAGAAATGGCCATAGGTTAGTGTCTGTCTAAGATGGGATGCTGTGT CTTTAGAAATGGCCATAGGTTACTCTCTGTCTAAGATGGGATGCTGTGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19087.hp1 HG03130.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0169 a0002c0006t0001g0278 a0001c0001t0001g0169 a0002c0006t0001g0278	2	334	0.0060	98	c.129 others(119): Show c.1291+12695_1291+12696insGCACAGCATCCCATCTTAGACAGA GAGTAACCTATGGCCATTTCTAAAGACACAGCATCCCATCTTAGACAGAC ACTAACCTATGGCCATTTCTAAAG	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC38A9_chr5_55620848_55717324	55695917	C C	CCGGACGG others(91): Show CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACCGGGCGGCTGACCGGGCGGGGGGCTGACCCCCCCACCTCCCTCA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	345	0.0029	98	c.113 others(115): Show c.113+1928_113+1929insTGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGTCAGCCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55695935	C C	CGGGCGGG others(91): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCACGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02145.hp2 HG02165.hp2 others(13): Show HG01168.hp1 HG02145.hp2 HG02165.hp2 HG02683.hp2 HG02809.hp2 HG03130.hp2 HG03486.hp1 NA18522.hp2 NA18971.hp2 NA18984.hp2 NA19004.hp2 NA19009.hp1 NA19030.hp2 NA19068.hp1 NA19084.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0002 a0002c0003t0004 a0002c0002t0001 a0002c0003t0002 a0002c0003t0004	a0002c0002t0001g0196 a0002c0003t0002g0005 a0002c0003t0002g0175 others(12): Show a0002c0002t0001g0196 a0002c0003t0002g0005 a0002c0003t0002g0175 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0194 a0002c0003t0002g0195 a0002c0003t0002g0197 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0206 a0002c0003t0004g0007	16	218	0.0734	98	c.113 others(115): Show c.113+1910_113+1911insAGCCAGCCGCCCCGTCCGTGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18990.hp2 HG03098.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0111 a0001c0002t0002g0012 a0001c0002t0002g0111	2	4	0.5000	98	c.274 others(115): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	3	0.3333	98	c.274 others(115): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	3	0.3333	98	c.274 others(115): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA GAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0321 a0001c0007t0001g0321	1	3	0.3333	98	c.274 others(115): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAAA GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	3	0.3333	98	c.274 others(115): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGA GAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18945.hp1 HG00558.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0159 a0001c0001t0003g0003 a0001c0001t0003g0159	2	4	0.5000	98	c.274 others(115): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCTTTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	3	0.3333	98	c.274 others(115): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGA GAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	3	0.3333	98	c.274 others(115): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC43A3_chr11_57401954_57432121	57403541	G G	GGAAGAAG others(91): Show GGAAGAAGAAAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	126	0.0079	98	c.42 others(109): Show c.4250_*4251insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCCTCTTCTTCCTC TTCTTTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3412		chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203213	G G	GGAGAGGG others(91): Show GGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGT GGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01433.hp2 HG01952.hp1 HG01074.hp1 HG01433.hp2 HG01952.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0088 a0002c0001t0001g0091 a0002c0001t0001g0094 a0002c0001t0001g0088 a0002c0001t0001g0091 a0002c0001t0001g0094	3	174	0.0172	98	c.83 others(109): Show c.8358_*8359insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTCTCTCCACGGTC TCCCTCTCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3960		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(91): Show AGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACC GTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	128	0.0078	98	c.82 others(109): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCACGGTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(91): Show AGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACC GTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp1 NA18960.hp2 others(1): Show HG00280.hp2 HG00738.hp1 NA18960.hp2 NA19088.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0003 a0002c0001t0001 a0002c0001t0003	a0002c0001t0001g0066 a0002c0001t0001g0096 a0002c0001t0001g0159 others(1): Show a0002c0001t0001g0066 a0002c0001t0001g0096 a0002c0001t0001g0159 a0002c0001t0003g0181	4	131	0.0305	98	c.82 others(109): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC ACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(91): Show ATTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	334	0.0030	98	c.152 others(115): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218666	T T	TTTCTTTT others(91): Show TTTCTTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	316	0.0032	98	c.152 others(115): Show c.152-2694_152-2693insGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAAAGAAAGAAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218666	T T	TTTCTTTT others(91): Show TTTCTTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0345 a0001c0001t0002g0345	1	316	0.0032	98	c.152 others(115): Show c.152-2694_152-2693insGGAAAGAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAAAGAAAGAAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A1_chr13_29504414_29600688	29558973	G G	GGGGAGTG others(91): Show GGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAATG TGAGTGAGGCGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTGAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0209 a0001c0001t0012g0209	1	325	0.0031	98	c.-11 others(117): Show c.-114-5114_-114-5113insGTCACTCACATTCACTCCCCCCTCAT TCAGATTCACTCCGCCTCACTCACATTCTCTCCCCCCTCACATTCACTCC CCCCTCATTCAGATTCACTCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559089	A A	AGGGGGAG others(91): Show AGGGGGAGTGAATGTGAGTGAGCGGGAGAGAATGTGAGTGAGGGGGAGTG AATGTGAATGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	281	0.0036	98	c.-11 others(117): Show c.-114-5230_-114-5229insACTCACATTCTCTCCCCCTCACTCAC ATTCTCTCCCCCTCATTCACATTCACTCCCCCTCACTCACATTCTCTCCC GCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC8A1_chr2_40092270_40457090	40200221	T T	TATATATA others(91): Show TATATATATATATAAATATATATATATATTTATATATAAATATATATATA TATTTATATATATATATAAATATATATATATATTTATATATAAATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG02257.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0075 a0001c0001t0074 a0001c0001t0075	a0001c0001t0074g0151 a0001c0001t0075g0065 a0001c0001t0074g0151 a0001c0001t0075g0065	2	183	0.0109	98	c.180 others(119): Show c.1809-21729_1809-21728insTTATATTTATATATAAATATATAT ATATATTTATATATATATATAAATATATATATATATTTATATATAAATAT ATATATATATTTATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLCO3A1_chr15_91848708_92170903	92047118	T T	TATATATA others(91): Show TATATATATAAATATATATATAATATATATATAAATATATATATAATATA TATATATATAAATATATATATAATATATATATATATAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0072 a0002c0003t0001g0072	1	184	0.0054	98	c.647 others(117): Show c.647-47762_647-47761insTATATATAAATATATATATAATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143467	T T	TAATATAT others(91): Show TAATATATATAAAATATATATATATAAAAAATATATATTATATAATATAT ATAAAATATATATATTATATAATATATATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01517.hp1 HG02109.hp2 others(3): Show HG00099.hp2 HG01517.hp1 HG02109.hp2 HG02818.hp2 HG03139.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0054 a0001c0001t0059 others(1): Show a0001c0001t0001 a0001c0001t0054 a0001c0001t0059 a0002c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0108 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0108 a0001c0001t0054g0168 a0001c0001t0059g0162 a0002c0003t0001g0008	6	144	0.0417	98	c.151 others(117): Show c.1513-3515_1513-3514insTATATATAAAATATATATATATAAAA AATATATATTATATAATATATATAAAATATATATATTATATAATATATAT ATATAATATATATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT2_chr4_20246905_20625561	20472546	C C	CTATATAG others(91): Show CTATATAGATATATATAGATATATCGATATATATCGATATATATAGATAT ATCGATATATATAGATATATAGATATATCTATATATATCGATATATCTA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0013 a0001c0003t0028g0013	1	59	0.0169	98	c.467 others(115): Show c.467+4729_467+4730insGATATATATAGATATATCGATATATATC GATATATATAGATATATCGATATATATAGATATATAGATATATCTATATA TATCGATATATCTATATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472593	T T	TATCTAGA others(91): Show TATCTAGATATATCTATATATATAGATATATCTAGATATATCGATATATC TAGATATATCGATATATATCGATATATCTAGATATATCGATATATATCG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0114 a0001c0003t0050g0114	1	155	0.0065	98	c.467 others(115): Show c.467+4772_467+4773insCTAGATATATCTATATATATAGATATAT CTAGATATATCGATATATCTAGATATATCGATATATATCGATATATCTAG ATATATCGATATATATCGAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLURP2_chr8_142759338_142774828	142760574	C C	CCAATCCA others(91): Show CCAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATA CAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCATGCAGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	440	0.0023	98	c.40 others(109): Show c.4030_*4031insTATGCTGCATGACAAACCACTGAATTACCCACTG TAAACGGGTGGATTGTATGGTGCGTGAGAAACCACTGAATTACCCACTGT AAACGGGTGGATTG	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		3763		chr8	TogoVar

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