Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
RPL37_chr5_40820262_40840222	40833724	TTTAATTT others(54): Show TTTAATTTATACTACTGTTTAGTGAAAAAACTACTAATAAAATCCAAACT AACTGATGTCAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01261.hp1 others(4): Show HG01167.hp1 HG01243.hp1 HG01261.hp1 HG02630.hp2 HG02818.hp1 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0052 a0001c0001t0014 a0001c0001t0052	a0001c0001t0014g0018 a0001c0001t0014g0116 a0001c0001t0052g0117 a0001c0001t0014g0018 a0001c0001t0014g0116 a0001c0001t0052g0117	7	440	0.0159	-61	c.224 others(76): Show c.224+396_224+456delTTGACATCAGTTAGTTTGGATTTTATTAGT AGTTTTTTCACTAAACAGTAGTATAAATTAA	RPL37	ENSG00000145592.14	transcript	ENST00000274242.10	protein_coding	3/3			chr5	TogoVar
RPTOR_chr17_80539838_80971368	80665469	TTTCCTTT others(54): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTC CTTTCCATGTCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0007 a0001c0038t0007	a0001c0038t0007g0178 a0001c0038t0007g0178	1	196	0.0051	-61	c.348 others(80): Show c.348+21662_348+21722delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCATGTCCTTTCCTTTCCTTTCCATGTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RUVBL2_chr19_48988887_49020970	49019553	TTAGCCAC others(54): Show TTAGCCACGCCCCAAAGCCGTGATTCCTTCTGGCCCCGCCCCAGGCTCCC GGAGCTCCGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	412	0.0024	-61	c.37 others(72): Show c.3712_*3772delTAGCCACGCCCCAAAGCCGTGATTCCTTCTGGCC CCGCCCCAGGCTCCCGGAGCTCCGCCC	RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding		3584		chr19	TogoVar
SAA2_chr11_18240240_18253668	18251913	TATTTATT others(54): Show TATTTATTTATTTATTTATTTATTTATTTATTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	474	0.0021	-61	c.-33 others(72): Show c.-3376_-3316delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAATA AATAAATAAATAAATAAATAAATAAAT	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3246		chr11	TogoVar
SAPCD2_chr9_137057127_137075557	137070870	AGGGGCGG others(54): Show AGGGGCGGGGCCTGGCACCCTACAAAAAAACCTGTCTCCAGGTAGCCTCG TGGGGTAAGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	414	0.0024	-61	c.-47 others(70): Show c.-471_-411delATTCTTACCCCACGAGGCTACCTGGAGACAGGTTTT TTTGTAGGGTGCCAGGCCCCGCCCC	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		314		chr9	TogoVar
SBNO2_chr19_1102638_1179268	1134455	CCAGCCAT others(54): Show CCAGCCATGAAAAGGAGCAAGGCTCTGACCCAAGCCACAGCACGGATGCA CCTTGAGGACCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02572.hp1 others(2): Show HG01243.hp1 HG02055.hp2 HG02572.hp1 HG02647.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0010 a0001c0032 a0001c0038 others(1): Show a0001c0010 a0001c0032 a0001c0038 a0003c0012	a0001c0010t0001 a0001c0032t0001 a0001c0038t0001 others(2): Show a0001c0010t0001 a0001c0032t0001 a0001c0038t0001 a0003c0012t0002 a0003c0012t0007	a0001c0010t0001g0193 a0001c0032t0001g0156 a0001c0038t0001g0153 others(2): Show a0001c0010t0001g0193 a0001c0032t0001g0156 a0001c0038t0001g0153 a0003c0012t0002g0178 a0003c0012t0007g0195	5	203	0.0246	-61	c.280 others(78): Show c.280-6751_280-6691delAGGTCCTCAAGGTGCATCCGTGCTGTGG CTTGGGTCAGAGCCTTGCTCCTTTTCATGGCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCN5A_chr3_38543062_38654687	38575126	GGGGTTGA others(54): Show GGGGTTGAGAGTTTGTGAGCTGTTCCCTGCTCTGGGGGTCTGGAGAGCAC ATTTTCAGCAGA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18953.hp2 NA18957.hp2 others(3): Show NA18948.hp2 NA18953.hp2 NA18957.hp2 NA19004.hp2 NA19064.hp1 NA19088.hp1	a0002 a0002	a0002c0005 a0002c0006 a0002c0013 a0002c0005 a0002c0006 a0002c0013	a0002c0005t0001 a0002c0006t0003 a0002c0013t0001 a0002c0005t0001 a0002c0006t0003 a0002c0013t0001	a0002c0005t0001g0229 a0002c0006t0003g0233 a0002c0006t0003g0234 others(3): Show a0002c0005t0001g0229 a0002c0006t0003g0233 a0002c0006t0003g0234 a0002c0006t0003g0235 a0002c0006t0003g0236 a0002c0013t0001g0169	6	340	0.0177	-61	c.366 others(78): Show c.3666+110_3666+170delTCTGCTGAAAATGTGCTCTCCAGACCCC CAGAGCAGGGAACAGCTCACAAACTCTCAACCC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	20/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414894	ATATTATT others(54): Show ATATTATTATATAGGATAATATATAATATATATTATTATATAGGATAATA TATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01516.hp1 HG02145.hp1 others(6): Show HG00140.hp1 HG01516.hp1 HG02145.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03486.hp1 HG03669.hp2	a0001 a0005 a0024 a0001 a0005 a0024	a0001c0001 a0001c0010 a0005c0005 others(1): Show a0001c0001 a0001c0010 a0005c0005 a0024c0027	a0001c0001t0001 a0001c0001t0004 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0010t0001 a0001c0010t0009 a0005c0005t0004 a0024c0027t0001	a0001c0001t0001g0204 a0001c0001t0004g0076 a0001c0010t0001g0061 others(5): Show a0001c0001t0001g0204 a0001c0001t0004g0076 a0001c0010t0001g0061 a0001c0010t0009g0062 a0001c0010t0009g0064 a0005c0005t0004g0006 a0005c0005t0004g0039 a0024c0027t0001g0301	9	394	0.0228	-61	c.341 others(80): Show c.3414+1752_3415-1774delATATATATTATATATTATCCTATATA ATAATATATATTATATATTATCCTATATAATAATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414923	ATATTATT others(54): Show ATATTATTATATAGGATAATATATAATATATATTATTATATAGGATAATA TATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp1 NA19043.hp2 HG02486.hp1 HG03098.hp1 NA19043.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0058 a0001c0010t0009g0059 a0001c0010t0009g0060 a0001c0010t0009g0058 a0001c0010t0009g0059 a0001c0010t0009g0060	3	394	0.0076	-61	c.341 others(80): Show c.3414+1723_3414+1783delATATATATTATATATTATCCTATATA ATAATATATATTATATATTATCCTATATAATAATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SDK1_chr7_3296252_4274000	4108395	GCTACCCC others(54): Show GCTACCCCAGTGCTGAGAACTGGCTCACTTTGGCTGAAGTGAGGATATGA GGGTTTTGATGT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19043.hp2 HG03209.hp1 NA19043.hp2	a0001 a0028 a0001 a0028	a0001c0046 a0028c0052 a0001c0046 a0028c0052	a0001c0046t0022 a0028c0052t0032 a0001c0046t0022 a0028c0052t0032	a0001c0046t0022g0091 a0028c0052t0032g0107 a0001c0046t0022g0091 a0028c0052t0032g0107	2	116	0.0172	-61	c.332 others(80): Show c.3325-2235_3325-2175delCTGAAGTGAGGATATGAGGGTTTTGA TGTCTACCCCAGTGCTGAGAACTGGCTCACTTTGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC14L3_chr22_30454229_30477017	30454853	ATATTATT others(54): Show ATATTATTATATAATACATAATATATTATTATATATTATATAATAGATAT ATAATATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0061 a0003c0003t0002g0061	1	454	0.0022	-61	c.51 others(72): Show c.5107_*5167delATAATATATTATATATCTATTATATAATATATAA TAATATATTATGTATTATATAATAATA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4375		chr22	TogoVar
SEC22B_chr1_120145898_120181520	120180995	AGAAGCTA others(54): Show AGAAGCTATTTCATGAAACCGTAATACTTCTTCCAACATGTCTGTCTGGT TTCCCTACTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0086 a0001c0002t0021g0086	1	380	0.0026	-61	c.-46 others(72): Show c.-4675_-4615delCAAAGTAGGGAAACCAGACAGACATGTTGGAAGA AGTATTACGGTTTCATGAAATAGCTTC	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding		4476		chr1	TogoVar
SECISBP2L_chr15_48983638_49051446	49022510	GAGAATCA others(54): Show GAGAATCATTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCTGAGATTGTG CCACTGTACTCC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18971.hp2 NA18975.hp2 others(6): Show HG02132.hp1 NA18971.hp2 NA18975.hp2 NA18987.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp2 NA19075.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0245 others(6): Show a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251	9	378	0.0238	-61	c.103 others(80): Show c.1036-3019_1036-2959delGGAGTACAGTGGCACAATCTCAGCTC ACTGCAACCTCCTCCTCCTGGGTTCAAATGATTCT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	7/17			chr15	TogoVar
SEMA3A_chr7_83950777_84199789	84086474	TTATTATA others(54): Show TTATTATATTATATTTACATATAATATATTATTATATTATATTTATATAT AATATATTATTA	T T	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	276	0.0036	-61	c.453 others(80): Show c.453+23935_453+23995delTAATAATATATTATATATAAATATAA TATAATAATATATTATATGTAAATATAATATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SFSWAP_chr12_131706090_131804738	131801547	TTTGCCGT others(54): Show TTTGCCGTGGCCCGTGTTTGCTGTGGCTGTTCGTGTTTGCCGTGGCCCGT GTTTGCCGTGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(112): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(4): Show a0000 a0001 a0002 a0004 a0005 a0010 a0012	a0000c0005 a0001c0001 a0001c0006 others(8): Show a0000c0005 a0001c0001 a0001c0006 a0001c0010 a0001c0018 a0001c0019 a0002c0003 a0004c0014 a0005c0016 a0010c0017 a0012c0030	a0000c0005t0001 a0001c0001t0001 a0001c0001t0004 others(11): Show a0000c0005t0001 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0006t0001 a0001c0010t0001 a0001c0010t0004 a0001c0018t0001 a0001c0019t0001 a0002c0003t0004 a0004c0014t0001 a0005c0016t0001 a0010c0017t0001 a0012c0030t0001	a0000c0005t0001g0251 a0001c0001t0001g0003 a0001c0001t0001g0004 others(107): Show a0000c0005t0001g0251 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0139 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0304 a0001c0001t0004g0305 a0001c0001t0005g0222 a0001c0006t0001g0014 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0010t0001g0240 a0001c0010t0004g0023 a0001c0018t0001g0015 a0001c0019t0001g0195 a0002c0003t0004g0022 a0002c0003t0004g0024 a0004c0014t0001g0272 a0005c0016t0001g0214 a0010c0017t0001g0209 a0012c0030t0001g0196	115	318	0.3616	-61	c.20 others(72): Show c.2060_*2120delTTGCCGTGGCCCGTGTTTGCTGTGGCTGTTCGTG TTTGCCGTGGCCCGTGTTTGCCGTGGC	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding		1810		chr12	TogoVar
SGPP2_chr2_222419543_222567621	222556734	CTCCCCAT others(54): Show CTCCCCATCCACCCTCACTCCTCCCCATTCACCCTCACTCCTCCCCATCC ACCCTCACTCCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0074 a0001c0005t0074	a0001c0005t0074g0226 a0001c0005t0074g0226	1	272	0.0037	-61	c.649 others(78): Show c.649-1585_649-1525delTCACCCTCACTCCTCCCCATCCACCCTC ACTCCTTCCCCATCCACCCTCACTCCTCCCCAT	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGPP2_chr2_222419543_222567621	222556762	TCACCCTC others(54): Show TCACCCTCACTCCTCCCCATCCACCCTCACTCCTTCCCCATCCACCCTCA CTCCTCCCCATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(107): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp1 HG01169.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01975.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(52): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0039 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0082 a0001c0001t0093 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0002t0018 a0001c0002t0019 a0001c0002t0034 a0001c0002t0037 a0001c0002t0080 a0001c0002t0091 a0001c0002t0094 a0001c0002t0095 a0001c0003t0071 a0001c0003t0085 a0001c0003t0086 a0001c0003t0087 a0001c0004t0036 a0001c0004t0073 a0001c0004t0075 a0001c0004t0076 a0001c0004t0077 a0001c0004t0090 a0001c0005t0036 a0001c0005t0072 a0001c0005t0088 a0001c0005t0089 a0001c0007t0019 a0001c0010t0018 a0001c0010t0037 a0001c0011t0009 a0001c0011t0035	a0001c0001t0002g0017 a0001c0001t0002g0034 a0001c0001t0002g0046 others(107): Show a0001c0001t0002g0017 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0070 a0001c0001t0002g0088 a0001c0001t0002g0106 a0001c0001t0002g0117 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0202 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0257 a0001c0001t0006g0047 a0001c0001t0006g0050 a0001c0001t0006g0056 a0001c0001t0006g0073 a0001c0001t0006g0108 a0001c0001t0006g0172 a0001c0001t0006g0179 a0001c0001t0006g0203 a0001c0001t0007g0049 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0134 a0001c0001t0007g0170 a0001c0001t0007g0248 a0001c0001t0012g0127 a0001c0001t0012g0214 a0001c0001t0012g0230 a0001c0001t0012g0245 a0001c0001t0012g0253 a0001c0001t0017g0186 a0001c0001t0017g0188 a0001c0001t0017g0239 a0001c0001t0017g0262 a0001c0001t0020g0110 a0001c0001t0020g0191 a0001c0001t0020g0201 a0001c0001t0020g0208 a0001c0001t0024g0104 a0001c0001t0024g0124 a0001c0001t0024g0252 a0001c0001t0029g0079 a0001c0001t0029g0149 a0001c0001t0030g0072 a0001c0001t0030g0100 a0001c0001t0039g0011 a0001c0001t0039g0019 a0001c0001t0053g0269 a0001c0001t0054g0233 a0001c0001t0055g0098 a0001c0001t0056g0173 a0001c0001t0057g0082 a0001c0001t0058g0209 a0001c0001t0059g0178 a0001c0001t0060g0112 a0001c0001t0061g0048 a0001c0001t0062g0054 a0001c0001t0063g0095 a0001c0001t0064g0060 a0001c0001t0065g0198 a0001c0001t0082g0264 a0001c0001t0093g0105 a0001c0001t0097g0157 a0001c0001t0098g0133 a0001c0001t0099g0207 a0001c0002t0018g0003 a0001c0002t0018g0004 a0001c0002t0018g0255 a0001c0002t0019g0162 a0001c0002t0034g0062 a0001c0002t0034g0236 a0001c0002t0037g0268 a0001c0002t0080g0107 a0001c0002t0091g0200 a0001c0002t0094g0189 a0001c0002t0095g0014 a0001c0003t0071g0160 a0001c0003t0085g0205 a0001c0003t0086g0204 a0001c0003t0087g0237 a0001c0004t0036g0180 a0001c0004t0073g0009 a0001c0004t0075g0265 a0001c0004t0076g0266 a0001c0004t0077g0010 a0001c0004t0090g0213 a0001c0005t0036g0244 a0001c0005t0072g0156 a0001c0005t0088g0152 a0001c0005t0089g0111 a0001c0007t0019g0012 a0001c0007t0019g0013 a0001c0007t0019g0159 a0001c0010t0018g0259 a0001c0010t0037g0148 a0001c0011t0009g0192 a0001c0011t0035g0002	110	272	0.4044	-61	c.649 others(78): Show c.649-1500_649-1440delCCTCACTCCTTCCCCATCCACCCTCACT CCTCCCCATCCACCCTCACTCCTCCCCATCCAC	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGPP2_chr2_222419543_222567621	222556847	CCTCACTC others(54): Show CCTCACTCCTTCCCCATCCACCCTCACTCCTCCCCATCCACCCTCACTCC TCCCCATCCACT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	272	0.0037	-61	c.649 others(78): Show c.649-1497_649-1437delCACTCCTTCCCCATCCACCCTCACTCCT CCCCATCCACCCTCACTCCTCCCCATCCACTCT	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP1_chr22_37634669_37661117	37659642	GGAGAGGA others(54): Show GGAGAGGAAGCCTGGGAGGATTGTCCCCCTGTGTGAGGGTTGAAACACCA TTCCCAGAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	412	0.0024	-61	c.39 others(72): Show c.3959_*4019delGAGAGGAAGCCTGGGAGGATTGTCCCCCTGTGTG AGGGTTGAAACACCATTCCCAGAGGCA	SH3BP1	ENSG00000100092.24	transcript	ENST00000649765.2	protein_coding		3526		chr22	TogoVar
SHC2_chr19_411589_466033	423279	GGCCCCTC others(54): Show GGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACT CCCTGGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	212	0.0047	-61	c.131 others(78): Show c.1310-884_1310-824delGGGAGACCAGGGAGTGAGGGTCAGGGCG GGAGGACCCCCCAGGACCAGGAGCTGGAGGGGC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SHC2_chr19_411589_466033	423509	GCTCCCTG others(54): Show GCTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCC CCCTGACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	212	0.0047	-61	c.131 others(80): Show c.1310-1114_1310-1054delTGAGGGTCAGGGGGGGAGGACCCCCC AGGACCAGGAGCTGGAGGGGCGGGAGACCAGGGAG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SHC2_chr19_411589_466033	423570	ACTCCCTG others(54): Show ACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCG CCCTGACCCTCG	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	212	0.0047	-61	c.131 others(80): Show c.1310-1175_1310-1115delCGAGGGTCAGGGCGGGAGGACCCCCC AGGACCAGGAGCTGGAGGGGCGGGAGACCAGGGAG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SHOX_chrX_625791_656584	636667	ATATACAT others(54): Show ATATACATATATAAACATATATATACATAAAATATATATATAAACATATA TATACATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0192 a0001c0001t0192	a0001c0001t0192g0073 a0001c0001t0192g0073	1	220	0.0046	-61	c.486 others(78): Show c.486+1842_486+1902delTATACATATATAAACATATATATACATA AAATATATATATAAACATATATATACATAAAAT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50795040	CATATATA others(54): Show CATATATATATGATATATATATGATATATATATATGATATATATATATGA TATATATATATG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0012 a0003c0013t0012	a0003c0013t0012g0004 a0003c0013t0012g0004	1	175	0.0057	-61	c.117 others(80): Show c.117+18801_117+18861delCATATATATATATCATATATATATAT CATATATATATATCATATATATATCATATATATAT	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	401146	CACCTGCC others(54): Show CACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	242	0.0041	-61	c.46 others(72): Show c.4689_*4749delTGAGCGGGCCGGGTGTGAGCGGGGCCGGGTGTGA GCGGGGCCGGGTGTGAGCGGGGCAGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4569		chr11	TogoVar
SIGIRR_chr11_400716_419999	401315	CCCCCGGC others(54): Show CCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	242	0.0041	-61	c.45 others(72): Show c.4520_*4580delTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGA GCGGGGCCGGGTGTGAGCGGGCCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4400		chr11	TogoVar
SIGIRR_chr11_400716_419999	401382	GGCCCCGC others(54): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG01975.hp2 others(34): Show HG00741.hp1 HG01358.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02109.hp1 HG02132.hp1 HG02451.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03704.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18966.hp2 NA18969.hp2 NA18974.hp1 NA18983.hp1 NA18995.hp2 NA19005.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0007 a0001c0001 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0003t0001 a0003c0007t0001 a0001c0001t0001 a0001c0003t0001 a0003c0007t0001	a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0144 others(34): Show a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0003t0001g0231 a0001c0003t0001g0232 a0003c0007t0001g0199	37	242	0.1529	-61	c.44 others(72): Show c.4453_*4513delGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCCGGG TGTGAGCGGGGCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4333		chr11	TogoVar
SIGIRR_chr11_400716_419999	402545	CACCCCCG others(54): Show CACCCCCGACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCGACCC CGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03130.hp1 HG02970.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0120 a0001c0001t0001g0122	2	242	0.0083	-61	c.32 others(72): Show c.3290_*3350delCGGGGGTGAGCGGGGTCGGGGTGAGCGGGGCCGG GGGTGAGCGGGGCCGGGGGTCGGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3170		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070925	GCACACGG others(54): Show GCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GTATCACACTTA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0041 a0002c0004t0001g0041	1	118	0.0085	-61	c.224 others(80): Show c.2241+2647_2241+2707delTAAGTGTGATACCCGTGTGCTGGGGG CTCACTGGGGGCTGCATAAGTGTGATACCCGTGTG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A10_chr6_111082503_111236194	111128921	TATTTTTT others(54): Show TATTTTTTCATATTCAAAAATAAAACAATTTTCATATTCATTTCAATTGT TTTATTTTTTCA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp2 others(15): Show HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01261.hp2 HG02004.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp2 HG03654.hp1 HG03710.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0027 others(4): Show a0001c0001t0003 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 others(15): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0026g0021 a0001c0001t0026g0026 a0001c0001t0027g0009 a0001c0001t0027g0010 a0001c0001t0033g0015 a0001c0001t0074g0023 a0001c0001t0075g0011 a0001c0001t0076g0020	18	250	0.0720	-61	c.343 others(80): Show c.343+40827_343+40887delATTTTTTCATATTCAAAAATAAAACA ATTTTCATATTCATTTCAATTGTTTTATTTTTTCA	SLC16A10	ENSG00000112394.18	transcript	ENST00000368851.10	protein_coding	1/5			chr6	TogoVar
SLC16A7_chr12_59591029_59794841	59671970	TATCCATA others(54): Show TATCCATATATCCGTATATATATGTGTATATATCCATATATCCGTATATA TGTGTATATATC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02809.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG02809.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0009 a0001c0001t0042 a0003c0004t0009 a0001c0001t0009 a0001c0001t0042 a0003c0004t0009	a0001c0001t0009g0243 a0001c0001t0042g0252 a0003c0004t0009g0249 others(1): Show a0001c0001t0009g0243 a0001c0001t0042g0252 a0003c0004t0009g0249 a0003c0004t0009g0250	4	260	0.0154	-61	c.-31 others(80): Show c.-31+16721_-31+16781delATCCATATATCCGTATATATATGTGT ATATATCCATATATCCGTATATATGTGTATATATC	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5			chr12	TogoVar
SLC16A7_chr12_59591029_59794841	59672030	TCGCATAT others(54): Show TCGCATATATCCGTATATATGTGTATATATCGCATATATCCGTATATATA TGTGTATATATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(60): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01358.hp2 HG01891.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02165.hp2 HG02300.hp1 HG02683.hp2 HG03492.hp2 HG03710.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0003t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0016 a0002c0002t0017 a0008c0007t0003	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(60): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0002g0014 a0001c0001t0002g0051 a0001c0001t0002g0193 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0006g0001 a0001c0001t0007g0103 a0001c0001t0007g0128 a0001c0001t0011g0054 a0001c0001t0011g0144 a0001c0001t0027g0090 a0001c0001t0028g0133 a0001c0001t0032g0234 a0001c0003t0005g0087 a0001c0003t0005g0091 a0001c0003t0005g0164 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0120 a0002c0002t0003g0122 a0002c0002t0003g0135 a0002c0002t0003g0183 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0196 a0002c0002t0003g0239 a0002c0002t0004g0036 a0002c0002t0004g0038 a0002c0002t0004g0092 a0002c0002t0004g0136 a0002c0002t0004g0137 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0181 a0002c0002t0004g0192 a0002c0002t0004g0230 a0002c0002t0016g0162 a0002c0002t0016g0165 a0002c0002t0017g0182 a0008c0007t0003g0045	63	260	0.2423	-61	c.-31 others(80): Show c.-31+16781_-31+16841delCGCATATATCCGTATATATGTGTATA TATCGCATATATCCGTATATATATGTGTATATATC	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5			chr12	TogoVar
SLC19A1_chr21_45507565_45547440	45542110	AGACCCCA others(54): Show AGACCCCAGGCTGCAGACCGCAGACCCCGGCCCACGCCCCGCACCCTCCC CAGGGCCCCGCG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01258.hp1 HG01261.hp1 others(11): Show HG01074.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01975.hp2 HG02257.hp2 HG02280.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03654.hp1 HG03942.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0010 a0001c0001 a0001c0004 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0004t0034 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0034 a0001c0004t0035 a0004c0010t0001	a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0237 others(11): Show a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0004t0034g0239 a0001c0004t0035g0228 a0004c0010t0001g0232	14	318	0.0440	-61	c.-50 others(76): Show c.-50+197_-50+257delCGCGGGGCCCTGGGGAGGGTGCGGGGCGTG GGCCGGGGTCTGCGGTCTGCAGCCTGGGGTC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	1/5			chr21	TogoVar
SLC22A18_chr11_2897278_2930246	2923278	GCTCAGGG others(54): Show GCTCAGGGCACACATCTGACACTCCATCCACCTGCCTGTCTGGGAGGCAG CAGATCCAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016	a0001c0001 a0001c0008 a0001c0012 others(26): Show a0001c0001 a0001c0008 a0001c0012 a0001c0019 a0001c0033 a0002c0002 a0002c0003 a0002c0011 a0002c0014 a0002c0021 a0002c0035 a0002c0037 a0003c0004 a0003c0024 a0004c0005 a0004c0030 a0004c0031 a0005c0006 a0006c0010 a0006c0015 a0007c0009 a0008c0013 a0009c0018 a0010c0022 a0011c0027 a0013c0029 a0014c0036 a0015c0025 a0016c0023	a0001c0001t0001 a0001c0008t0001 a0001c0012t0001 others(26): Show a0001c0001t0001 a0001c0008t0001 a0001c0012t0001 a0001c0019t0001 a0001c0033t0001 a0002c0002t0001 a0002c0003t0001 a0002c0011t0001 a0002c0014t0001 a0002c0021t0001 a0002c0035t0001 a0002c0037t0001 a0003c0004t0001 a0003c0024t0001 a0004c0005t0001 a0004c0030t0001 a0004c0031t0001 a0005c0006t0001 a0006c0010t0001 a0006c0015t0001 a0007c0009t0001 a0008c0013t0001 a0009c0018t0001 a0010c0022t0001 a0011c0027t0001 a0013c0029t0001 a0014c0036t0001 a0015c0025t0001 a0016c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(245): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0008t0001g0037 a0001c0008t0001g0176 a0001c0008t0001g0177 a0001c0008t0001g0180 a0001c0012t0001g0001 a0001c0012t0001g0103 a0001c0012t0001g0234 a0001c0019t0001g0040 a0001c0033t0001g0098 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0072 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0003t0001g0006 a0002c0003t0001g0031 a0002c0003t0001g0033 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0052 a0002c0003t0001g0071 a0002c0003t0001g0145 a0002c0003t0001g0148 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0170 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0272 a0002c0003t0001g0282 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0287 a0002c0011t0001g0015 a0002c0011t0001g0111 a0002c0011t0001g0113 a0002c0014t0001g0016 a0002c0021t0001g0096 a0002c0021t0001g0107 a0002c0035t0001g0122 a0002c0037t0001g0164 a0003c0004t0001g0017 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0185 a0003c0024t0001g0089 a0004c0005t0001g0009 a0004c0005t0001g0188 a0004c0005t0001g0221 a0004c0005t0001g0224 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0001g0228 a0004c0005t0001g0233 a0004c0005t0001g0235 a0004c0005t0001g0236 a0004c0005t0001g0239 a0004c0005t0001g0241 a0004c0005t0001g0255 a0004c0005t0001g0281 a0004c0030t0001g0217 a0004c0031t0001g0213 a0005c0006t0001g0005 a0005c0006t0001g0013 a0005c0006t0001g0080 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0084 a0006c0010t0001g0106 a0006c0010t0001g0109 a0006c0010t0001g0119 a0006c0010t0001g0120 a0006c0015t0001g0032 a0006c0015t0001g0149 a0007c0009t0001g0001 a0007c0009t0001g0189 a0007c0009t0001g0261 a0008c0013t0001g0022 a0009c0018t0001g0050 a0010c0022t0001g0101 a0011c0027t0001g0102 a0013c0029t0001g0267 a0014c0036t0001g0118 a0015c0025t0001g0087 a0016c0023t0001g0083	353	405	0.8716	-61	c.108 others(78): Show c.1087+898_1087+958delTCCAGAAACTCAGGGCACACATCTGACA CTCCATCCACCTGCCTGTCTGGGAGGCAGCAGA	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC38A10_chr17_81239811_81300307	81251213	TTTTAAAG others(54): Show TTTTAAAGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACG ATGCCGCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp1 others(12): Show HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02572.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0003 a0001c0005 a0001c0007 others(4): Show a0001c0003 a0001c0005 a0001c0007 a0001c0032 a0001c0037 a0004c0038 a0005c0025	a0001c0003t0001 a0001c0005t0001 a0001c0005t0005 others(5): Show a0001c0003t0001 a0001c0005t0001 a0001c0005t0005 a0001c0007t0001 a0001c0032t0001 a0001c0037t0001 a0004c0038t0001 a0005c0025t0001	a0001c0003t0001g0020 a0001c0005t0001g0043 a0001c0005t0001g0044 others(12): Show a0001c0003t0001g0020 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0001g0047 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0005g0164 a0001c0007t0001g0055 a0001c0032t0001g0025 a0001c0037t0001g0056 a0004c0038t0001g0057 a0005c0025t0001g0042	15	214	0.0701	-61	c.206 others(78): Show c.2065+219_2065+279delCACCTGCGGCATCGTCACATGGCTTGTG ATTACCGTTTTATCTCCCTTGCTCCCCTTTAAA	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SLC38A9_chr5_55620848_55717324	55696111	CGGGTGGG others(54): Show CGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACCGGGCGGCTGACC GGGCGGGGGGCT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18979.hp1 NA18954.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0062 a0001c0001t0001g0066	2	350	0.0057	-61	c.113 others(78): Show c.113+1674_113+1734delAGCCCCCCGCCCGGTCAGCCGCCCGGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC39A4_chr8_144407414_144421844	144413100	CCCCACCT others(54): Show CCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATC TTCCAGGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0073 a0006c0006t0001g0073	1	422	0.0024	-61	c.162 others(77): Show c.1627+76_1627+136delCGGGGCCTGGAAGATGGGCGGGGCCGCAC CTGGCTGGGTGGGGAGACCGGAAACAGGTGGG	SLC39A4	ENSG00000147804.10	transcript	ENST00000301305.8	protein_coding	10/11			chr8	TogoVar
SLC39A4_chr8_144407414_144421844	144413113	CGGTCTCC others(54): Show CGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGC CCACCTGTTCCA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp1 HG02145.hp2 others(1): Show HG00673.hp1 HG02015.hp1 HG02145.hp2 HG02970.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0005 a0005c0004 a0002c0002 a0004c0005 a0005c0004	a0002c0002t0001 a0004c0005t0001 a0005c0004t0001 a0002c0002t0001 a0004c0005t0001 a0005c0004t0001	a0002c0002t0001g0066 a0004c0005t0001g0059 a0005c0004t0001g0035 a0002c0002t0001g0066 a0004c0005t0001g0059 a0005c0004t0001g0035	4	422	0.0095	-61	c.162 others(77): Show c.1627+63_1627+123delTGGAACAGGTGGGCGGGGCCTGGAAGATG GGCGGGGCCGCACCTGGCTGGGTGGGGAGACC	SLC39A4	ENSG00000147804.10	transcript	ENST00000301305.8	protein_coding	10/11			chr8	TogoVar
SLC49A3_chr4_676829_694151	681645	GCCCCCTC others(54): Show GCCCCCTCCAGCGCCGCCCCGCCCCCTCCAGCGCCGCCCCGCCCCCTCCA GCGCCGCCCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	412	0.0024	-61	c.25 others(70): Show c.252_*312delGCGGGGCGGCGCTGGAGGGGGCGGGGCGGCGCTGGA GGGGGCGGGGCGGCGCTGGAGGGGG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		183		chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71346385	TTATTGCA others(54): Show TTATTGCAAATATGTAGTTATTCATAGTTATTATGAAGGGGAGATAGTGG CTTTTAGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02056.hp2 others(21): Show HG01884.hp2 HG01891.hp1 HG02056.hp2 HG02129.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03453.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp1 NA18971.hp1 NA18986.hp2 NA18991.hp1 NA19000.hp1 NA19010.hp2 NA19058.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0022 a0001c0001t0028 a0001c0002t0003 a0001c0002t0004 a0001c0005t0001 a0001c0005t0005 a0001c0009t0021 a0001c0011t0012 a0001c0012t0011	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0082 others(21): Show a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0131 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0083 a0001c0001t0003g0029 a0001c0001t0005g0087 a0001c0001t0005g0111 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0072 a0001c0001t0022g0053 a0001c0001t0028g0123 a0001c0002t0003g0042 a0001c0002t0003g0056 a0001c0002t0004g0132 a0001c0005t0001g0074 a0001c0005t0005g0138 a0001c0009t0021g0024 a0001c0011t0012g0139 a0001c0012t0011g0030	24	152	0.1579	-61	c.390 others(78): Show c.390-3464_390-3404delATTGCAAATATGTAGTTATTCATAGTTA TTATGAAGGGGAGATAGTGGCTTTTAGTATACT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71346385	TTATTGCA others(54): Show TTATTGCAAATATGTAGTTATTCATAGTTATTATGAAGGGGAGATAGTGG CTTTTAGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG01891.hp2 others(31): Show HG00642.hp2 HG01884.hp1 HG01891.hp2 HG02040.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03453.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18939.hp1 NA18949.hp2 NA18953.hp2 NA18971.hp2 NA18986.hp1 NA18991.hp2 NA19000.hp2 NA19010.hp2 NA19030.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19084.hp1 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0013 a0001c0014 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0029 a0001c0002t0003 a0001c0002t0005 a0001c0006t0001 a0001c0006t0006 a0001c0011t0020 a0001c0013t0016 a0001c0014t0015 a0004c0008t0027	a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0191 others(31): Show a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0003g0214 a0001c0001t0004g0010 a0001c0001t0004g0206 a0001c0001t0006g0197 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0011g0015 a0001c0001t0013g0194 a0001c0001t0013g0195 a0001c0001t0013g0196 a0001c0001t0017g0207 a0001c0001t0029g0218 a0001c0002t0003g0198 a0001c0002t0003g0204 a0001c0002t0005g0199 a0001c0006t0001g0211 a0001c0006t0006g0212 a0001c0011t0020g0014 a0001c0013t0016g0210 a0001c0014t0015g0213 a0004c0008t0027g0203	34	234	0.1453	-61	c.258 others(78): Show c.258-3464_258-3404delATTGCAAATATGTAGTTATTCATAGTTA TTATGAAGGGGAGATAGTGGCTTTTAGTATACT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC66A2_chr18_79897420_79956653	79916098	ATACCCGC others(54): Show ATACCCGCAGTGCTCCCGTACCCTCCCATACCCACGGTGCTCCCGTACCC GCGGCGCTCTCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(40): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02572.hp2 HG02717.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03492.hp2 HG03704.hp1 NA18906.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18991.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19062.hp1 NA19084.hp1 NA19088.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0006 a0004c0002 a0001c0001 a0002c0006 a0004c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0026 a0001c0001t0038 a0001c0001t0045 a0002c0006t0040 a0004c0002t0006	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0003g0317 others(38): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0003g0317 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0166 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0004g0247 a0001c0001t0004g0267 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0009g0130 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0182 a0001c0001t0009g0197 a0001c0001t0009g0264 a0001c0001t0009g0265 a0001c0001t0026g0183 a0001c0001t0038g0127 a0001c0001t0045g0315 a0002c0006t0040g0335 a0004c0002t0006g0255	43	352	0.1222	-61	c.608 others(78): Show c.608+3025_608+3085delCGAGAGCGCCGCGGGTACGGGAGCACCG TGGGTATGGGAGGGTACGGGAGCACTGCGGGTA	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SLC7A1_chr13_29504414_29600688	29558338	TGAATGTG others(54): Show TGAATGTGAGTGAGGGGGGAGTGAATGTGAATGAGGGGGAGAGAATGTGA GTGAGGTGGAGA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02280.hp2 HG02451.hp1 others(5): Show HG00597.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02717.hp2 HG02965.hp2 HG03041.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0007 a0001c0001 a0001c0005 a0002c0007	a0001c0001t0014 a0001c0005t0006 a0001c0005t0026 others(1): Show a0001c0001t0014 a0001c0005t0006 a0001c0005t0026 a0002c0007t0016	a0001c0001t0014g0250 a0001c0005t0006g0106 a0001c0005t0006g0107 others(5): Show a0001c0001t0014g0250 a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 a0001c0005t0006g0109 a0001c0005t0006g0110 a0001c0005t0026g0038 a0002c0007t0016g0112	8	330	0.0242	-61	c.-11 others(80): Show c.-114-4539_-114-4479delTCTCCACCTCACTCACATTCTCTCCC CCTCATTCACATTCACTCCCCCCTCACTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558770	AGGGGGAG others(54): Show AGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTG AATCTGAATGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG00733.hp1 others(9): Show HG00408.hp1 HG00673.hp1 HG00733.hp1 HG01433.hp2 HG01993.hp2 HG02080.hp2 HG04199.hp2 NA18965.hp1 NA18967.hp2 NA18990.hp1 NA19066.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0021 a0001c0002 a0001c0003 a0001c0021	a0001c0002t0002 a0001c0002t0007 a0001c0003t0005 others(1): Show a0001c0002t0002 a0001c0002t0007 a0001c0003t0005 a0001c0021t0002	a0001c0002t0002g0010 a0001c0002t0002g0140 a0001c0002t0002g0151 others(7): Show a0001c0002t0002g0010 a0001c0002t0002g0140 a0001c0002t0002g0151 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0186 a0001c0002t0007g0001 a0001c0002t0007g0015 a0001c0003t0005g0125 a0001c0021t0002g0164	12	330	0.0364	-61	c.-11 others(80): Show c.-114-4971_-114-4911delCTCATTCAGATTCACTCTGCCTCACT CACATTCTCTCCCCCTCACTCACATTCTCTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559411	AGGGGGAG others(54): Show AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00738.hp2 others(23): Show HG00408.hp1 HG00621.hp2 HG00738.hp2 HG01106.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01993.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02647.hp2 HG03195.hp2 HG03654.hp1 HG04228.hp2 NA18942.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18990.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0005t0006 a0002c0007t0016	a0001c0001t0001g0063 a0001c0001t0001g0118 a0001c0001t0001g0119 others(22): Show a0001c0001t0001g0063 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0002t0002g0084 a0001c0002t0002g0111 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0173 a0001c0002t0002g0186 a0001c0002t0002g0298 a0001c0002t0007g0001 a0001c0002t0007g0018 a0001c0002t0007g0020 a0001c0002t0007g0033 a0001c0002t0007g0035 a0001c0002t0009g0197 a0001c0002t0009g0306 a0001c0005t0006g0062 a0002c0007t0016g0180	26	330	0.0788	-61	c.-11 others(80): Show c.-114-5612_-114-5552delCTCACTCACATTCACTCCCCCTCACT CACATTCACTCCCCCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559471	AGGGGGGA others(54): Show AGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGACGGGGAGT GAATGTGAGTGA	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	330	0.0030	-61	c.-11 others(80): Show c.-114-5672_-114-5612delTCACTCACATTCACTCCCCGTCACTC ACATTCACTCCCCCTCACTCACATTCACTCCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC8A1_chr2_40092270_40457090	40253237	GCGTATAT others(54): Show GCGTATATACACATATGTATACATATATACATGTACATATGACGTATATA TGTGTATATACA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0005 a0001c0001t0014g0006 a0001c0001t0014g0005 a0001c0001t0014g0006	2	236	0.0085	-61	c.180 others(82): Show c.1809-74805_1809-74745delTGTATATACACATATATACGTCAT ATGTACATGTATATATGTATACATATGTGTATATACG	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A6_chrX_135980435_136052269	136041513	CCACATTG others(54): Show CCACATTGCCCAGGCTCGCCTCTCAAACATTGTCTCCATTTCCACCATGC CCTGTTAACCCA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	199	0.0050	-61	c.176 others(80): Show c.1767+1335_1767+1395delCATTGCCCAGGCTCGCCTCTCAAACA TTGTCTCCATTTCCACCATGCCCTGTTAACCCACA	SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLFN12_chr17_35405922_35437500	35424247	CAAGTGTA others(54): Show CAAGTGTAACTTTTAAGTTAAGAAGTGTGACTTAAGTTTAACTTTTTTTT AAAGTGTAATTT	C C	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	426	0.0024	-61	c.-40 others(78): Show c.-40-1240_-40-1180delAAATTACACTTTAAAAAAAAGTTAAACT TAAGTCACACTTCTTAACTTAAAAGTTACACTT	SLFN12	ENSG00000172123.13	transcript	ENST00000304905.10	protein_coding	1/3			chr17	TogoVar
SMARCE1_chr17_40619962_40652818	40629708	AAAACAGA others(54): Show AAAACAGAGGCAAAGGACTGAGTGTTTGTCTAGTTGCAAAATTAGCAAAA ATCAGTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp1 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0038 a0001c0001t0019g0038	2	402	0.0050	-61	c.102 others(78): Show c.1028-776_1028-716delAAAATAACTGATTTTTGCTAATTTTGCA ACTAGACAAACACTCAGTCCTTTGCCTCTGTTT	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	10/10			chr17	TogoVar

Search by Variant

Search

Search Results