Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

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
SH3BGRL2_chr6_79626329_79708655	79693420	ATCCCTGT others(100): Show ATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCA TTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTT GAGATACG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp2 HG02258.hp2 others(6): Show HG01346.hp1 HG01891.hp2 HG02258.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03139.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0268 a0001c0001t0003g0279 others(5): Show a0001c0001t0003g0019 a0001c0001t0003g0268 a0001c0001t0003g0279 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293	9	346	0.0260	-107	c.232 others(17): Show c.232-3060_232-2954del	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SHC2_chr19_411589_466033	443930	ATGGACGG others(100): Show ATGGACGGGTGAATGGATGGGTGGGTGGATGGAGGGTGGATGGATGGACG GATGGTTGGATGGATGGACAGATGGATGGATGGGTGGATGGATGTGTAGG TGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01943.hp2 HG02132.hp2 others(19): Show HG01074.hp2 HG01943.hp2 HG02132.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03688.hp1 HG03688.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18954.hp2 NA18960.hp1 NA18995.hp2 NA18999.hp1 NA19009.hp2 NA19056.hp2 NA19066.hp2 NA19080.hp1 NA19091.hp2 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0006 a0002c0012 others(1): Show a0001c0003 a0001c0006 a0002c0012 a0006c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(6): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0002c0012t0002 a0002c0012t0004 a0006c0010t0002	a0001c0003t0001g0063 a0001c0003t0001g0140 a0001c0003t0002g0062 others(19): Show a0001c0003t0001g0063 a0001c0003t0001g0140 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0068 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0004g0109 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0006t0001g0013 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0002g0022 a0001c0006t0002g0023 a0001c0006t0006g0010 a0002c0012t0002g0205 a0002c0012t0004g0195 a0006c0010t0002g0066 a0006c0010t0002g0067	22	210	0.1048	-107	c.469 others(17): Show c.469-3105_469-2999del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	402106	CCCCCGAC others(100): Show CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCACCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGC TCCACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	226	0.0044	-107	c.36 others(11): Show c.3683_*3789del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3609		chr11	TogoVar
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(100): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03098.hp1 HG01346.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0205 a0001c0001t0009g0308 a0001c0001t0003g0205 a0001c0001t0009g0308	2	263	0.0076	-107	c.970 others(19): Show c.970-21767_970-21661del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1073069	GCCCCCAG others(100): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC CAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0004 a0004c0033t0004	a0004c0033t0004g0072 a0004c0033t0004g0072	1	111	0.0090	-107	c.224 others(17): Show c.2241+457_2241+563del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC26A3_chr7_107760469_107808223	107770149	CTTTCTTT others(100): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp1 HG02970.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0373 a0001c0001t0001g0300 a0001c0001t0001g0373	2	430	0.0047	-107	c.206 others(19): Show c.2062+1798_2062+1904del	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20			chr7	TogoVar
SLC37A1_chr21_42508852_42586426	42570183	TGACACAT others(100): Show TGACACATGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGCCAT GTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGT TGTCATGC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0053 a0001c0001t0010g0053	1	266	0.0038	-107	c.142 others(19): Show c.1423+1752_1423+1858del	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570208	CGGCAGGC others(100): Show CGGCAGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCT GAGAAGCGGCAGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTC TGAGAAGT	C C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19063.hp1 NA18999.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0012 a0001c0001t0025g0012	2	334	0.0060	-107	c.142 others(19): Show c.1423+1773_1423+1879del	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC9A3_chr5_465456_529449	495379	TCCCCGCG others(100): Show TCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGC TCCACTCC	T T	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	194	0.0052	-107	c.212 others(17): Show c.212-3415_212-3309del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SNTG2_chr2_945849_1372613	1354339	CCCGGGCT others(100): Show CCCGGGCTGGAGCTCAGGGACTGGGTGTTCCGTGGCAGAGCGGCTGCCTG AGTTCCCTGAGCCTCATCTGTAAAGTGGATACGTTTCCATGGGGGAAGTG GAAGAACG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02486.hp1 others(7): Show HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02683.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 NA19043.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0015	a0001c0001 a0003c0007 a0003c0008 others(3): Show a0001c0001 a0003c0007 a0003c0008 a0004c0014 a0009c0012 a0015c0025	a0001c0001t0001 a0003c0007t0001 a0003c0007t0002 others(5): Show a0001c0001t0001 a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0003c0008t0002 a0004c0014t0002 a0009c0012t0001 a0015c0025t0001	a0001c0001t0001g0144 a0003c0007t0001g0007 a0003c0007t0001g0104 others(7): Show a0001c0001t0001g0144 a0003c0007t0001g0007 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077 a0003c0008t0001g0102 a0003c0008t0002g0072 a0004c0014t0002g0001 a0009c0012t0001g0066 a0015c0025t0001g0034	10	188	0.0532	-107	c.148 others(21): Show c.1489-12939_1489-12833del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX18_chr5_54512759_54551586	54534612	GTTTCCAG others(100): Show GTTTCCAGGAAAGTTCTGGTTAAAATGCCTGAGGCAGTACAGCGTATGAG GATTTGCTTTTTTGTTTTGTTTTTTTTTTCCCTCTGTCTCACTTTGATGG GTCAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02559.hp1 others(4): Show HG01891.hp2 HG02055.hp1 HG02559.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0015 a0001c0007 a0001c0015	a0001c0007t0010 a0001c0007t0037 a0001c0015t0010 a0001c0007t0010 a0001c0007t0037 a0001c0015t0010	a0001c0007t0010g0013 a0001c0007t0037g0098 a0001c0015t0010g0103 a0001c0007t0010g0013 a0001c0007t0037g0098 a0001c0015t0010g0103	7	388	0.0180	-107	c.162 others(19): Show c.1622-8552_1622-8446del	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX7_chr1_98656721_98765500	98714386	CAAATAGT others(100): Show CAAATAGTTCTTGGCTCCTTAAGAAGACTGAAAAAGCCCGTCTCCCTAGG AGCTTATTCTCTAGTGGAAGGATGCTGAAAATAAGTAAAAAAATTAAATG AATATGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp2 others(43): Show HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02280.hp2 HG02300.hp1 HG02602.hp1 HG02630.hp1 HG02738.hp1 HG02922.hp2 HG03017.hp1 HG03492.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18969.hp2 NA18980.hp2 NA18987.hp1 NA18999.hp2 NA19063.hp2 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0048 others(42): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0221 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323	46	376	0.1223	-107	c.112 others(21): Show c.1125+12486_1125+12592del	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7676824	TCTCTCCC others(100): Show TCTCTCCCTCTCTCCACCCCAGCCCTGTCATCTCCTCCTTCCTCTCCCTC TCTGTGTCTGAAGTTGGCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCC CTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp1 NA19240.hp2 HG02109.hp1 HG02970.hp1 NA19240.hp2	a0001 a0010 a0018 a0001 a0010 a0018	a0001c0001 a0010c0032 a0018c0025 a0001c0001 a0010c0032 a0018c0025	a0001c0001t0054 a0010c0032t0019 a0018c0025t0019 a0001c0001t0054 a0010c0032t0019 a0018c0025t0019	a0001c0001t0054g0007 a0010c0032t0019g0149 a0018c0025t0019g0025 a0001c0001t0054g0007 a0010c0032t0019g0149 a0018c0025t0019g0025	3	90	0.0333	-107	c.134 others(17): Show c.1341+601_1341+707del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK1_chr6_35827966_35926098	35868008	TGCTGCCC others(100): Show TGCTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCCGAAACCTC TGCCTGCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG TATTACAG	T T	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0282 a0001c0002t0002g0282	1	340	0.0029	-107	c.151 others(18): Show c.1512+895_1512+1001del	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	12/15			chr6	TogoVar
SSH2_chr17_29620938_29935228	29895452	CATTTTAT others(100): Show CATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTATAT ATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATATA TAAAATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0231 a0001c0001t0034g0231	1	230	0.0043	-107	c.63+ others(17): Show c.63+34379_63+34485del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
STON1_chr2_48525154_48603513	48566332	CGCCCGGC others(100): Show CGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTG GTCAGGCTGGTCTCGATCTTCTGACGTCAGGTGATCTGCCCACCTCAGTC TCCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02738.hp2 HG00642.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0003g0009 a0001c0001t0001g0012 a0001c0001t0003g0009	2	374	0.0053	-107	c.-47 others(19): Show c.-47-14191_-47-14085del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48566410	AGGTGATC others(100): Show AGGTGATCTGCCCACCTCAGTCTCCACCATGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAATCTTC TGACGTCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02965.hp1 HG02559.hp2 HG02922.hp2 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219	3	374	0.0080	-107	c.-47 others(19): Show c.-47-14169_-47-14063del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
SYT1_chr12_78859774_79457008	79256551	TATTTTTA others(100): Show TATTTTTATCAAGTCCAGTGATAGAAACATGTATTTTCTCATGCTGTAGT TCCAAGATCTTTAAAAGGGGTTGGTCAATAACTCAAAACCATTTTTTGAT GAAGGGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	60	0.0167	-107	c.167 others(19): Show c.167-29233_167-29127del	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TEPSIN_chr17_81223277_81244055	81242136	ACCGCAGT others(100): Show ACCGCAGTCCATCCCTGTGCATGCCAGACTCAGATGCCCTGCGCTGGCAC AAACCACCCGACCCGCCTCCCCAGCGTGCAGGGCCGGCTGCCCCCCACCC CTGCCTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	364	0.0027	-107	c.-32 others(11): Show c.-3210_-3104del	TEPSIN	ENSG00000167302.11	transcript	ENST00000637944.2	protein_coding		3082		chr17	TogoVar
THOP1_chr19_2780503_2820807	2820700	TGAGACGG others(100): Show TGAGACGGAGTCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTC CGCCTCCCGGGTTCAAGCCATTGTCCTGCCTCAGCCTCCCAAGTAGCTGG GATTACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02723.hp1 others(3): Show HG02109.hp1 HG02615.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0036 a0001c0002t0006g0037 a0001c0002t0006g0154 others(1): Show a0001c0002t0006g0036 a0001c0002t0006g0037 a0001c0002t0006g0154 a0001c0002t0006g0156	6	368	0.0163	-107	c.74 others(11): Show c.7425_*7531del	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		4894		chr19	TogoVar
TLN2_chr15_62385550_62849631	62655585	GCACATGT others(100): Show GCACATGTCACCGTGGGTTGGCTGGCACTGTCCCCTGCTCCACAGAGGGT GTACTGGGCCATGGGAATGCGTCAGTGGAGAGAACGTGTCACTCCCCGAA GCCTCTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00621.hp1 others(125): Show HG00099.hp1 HG00099.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18960.hp1 NA18960.hp2 NA18973.hp1 NA18973.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19080.hp1 NA19080.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(59): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0023 a0001c0024 a0001c0031 a0001c0043 a0001c0046 a0001c0047 a0001c0048 a0001c0054 a0001c0056 a0001c0057 a0001c0059 a0001c0060 a0001c0061 a0001c0063 a0001c0066 a0002c0009 a0002c0012 a0002c0014 a0002c0020 a0002c0021 a0002c0022 a0002c0025 a0002c0030 a0002c0035 a0002c0036 a0002c0038 a0002c0042 a0002c0044 a0002c0045 a0002c0050 a0002c0051 a0002c0062 a0002c0064 a0002c0065 a0003c0026 a0003c0027 a0003c0028 a0004c0052 a0005c0058 a0006c0055 a0007c0049 a0008c0037 a0010c0032 a0011c0053 a0012c0067 a0013c0029	a0001c0001t0001 a0001c0001t0028 a0001c0001t0033 others(82): Show a0001c0001t0001 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0002t0004 a0001c0002t0010 a0001c0002t0014 a0001c0002t0024 a0001c0003t0001 a0001c0003t0040 a0001c0004t0002 a0001c0004t0005 a0001c0004t0011 a0001c0004t0014 a0001c0005t0001 a0001c0005t0043 a0001c0006t0002 a0001c0006t0005 a0001c0006t0011 a0001c0006t0016 a0001c0007t0002 a0001c0007t0012 a0001c0007t0015 a0001c0008t0004 a0001c0010t0001 a0001c0011t0001 a0001c0013t0009 a0001c0015t0007 a0001c0016t0001 a0001c0016t0036 a0001c0017t0001 a0001c0018t0001 a0001c0019t0005 a0001c0019t0012 a0001c0023t0009 a0001c0023t0013 a0001c0024t0001 a0001c0031t0022 a0001c0043t0001 a0001c0046t0004 a0001c0047t0001 a0001c0048t0004 a0001c0054t0001 a0001c0056t0007 a0001c0057t0001 a0001c0059t0007 a0001c0060t0041 a0001c0061t0001 a0001c0063t0017 a0001c0066t0002 a0002c0009t0003 a0002c0009t0006 a0002c0012t0003 a0002c0014t0023 a0002c0014t0025 a0002c0020t0003 a0002c0021t0003 a0002c0022t0005 a0002c0022t0006 a0002c0025t0006 a0002c0025t0018 a0002c0030t0029 a0002c0035t0006 a0002c0036t0034 a0002c0038t0019 a0002c0042t0001 a0002c0044t0009 a0002c0045t0037 a0002c0050t0008 a0002c0051t0001 a0002c0062t0001 a0002c0064t0039 a0002c0065t0020 a0003c0026t0032 a0003c0027t0001 a0003c0028t0016 a0004c0052t0003 a0005c0058t0027 a0006c0055t0001 a0007c0049t0038 a0008c0037t0005 a0010c0032t0002 a0011c0053t0026 a0012c0067t0003 a0013c0029t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0022 others(125): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0028g0072 a0001c0001t0033g0047 a0001c0001t0035g0012 a0001c0002t0004g0083 a0001c0002t0004g0085 a0001c0002t0010g0001 a0001c0002t0010g0099 a0001c0002t0014g0143 a0001c0002t0024g0004 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0056 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0122 a0001c0003t0040g0043 a0001c0004t0002g0069 a0001c0004t0002g0123 a0001c0004t0002g0138 a0001c0004t0005g0117 a0001c0004t0011g0046 a0001c0004t0014g0078 a0001c0005t0001g0029 a0001c0005t0001g0031 a0001c0005t0001g0050 a0001c0005t0001g0053 a0001c0005t0001g0130 a0001c0005t0043g0055 a0001c0006t0002g0009 a0001c0006t0002g0060 a0001c0006t0002g0131 a0001c0006t0005g0089 a0001c0006t0011g0128 a0001c0006t0016g0125 a0001c0007t0002g0057 a0001c0007t0002g0111 a0001c0007t0002g0137 a0001c0007t0012g0054 a0001c0007t0015g0082 a0001c0007t0015g0092 a0001c0008t0004g0016 a0001c0008t0004g0070 a0001c0008t0004g0086 a0001c0008t0004g0141 a0001c0010t0001g0035 a0001c0011t0001g0026 a0001c0011t0001g0061 a0001c0011t0001g0065 a0001c0013t0009g0021 a0001c0013t0009g0023 a0001c0015t0007g0096 a0001c0015t0007g0097 a0001c0016t0001g0013 a0001c0016t0036g0103 a0001c0017t0001g0042 a0001c0018t0001g0114 a0001c0019t0005g0144 a0001c0019t0012g0063 a0001c0023t0009g0120 a0001c0023t0013g0036 a0001c0024t0001g0005 a0001c0024t0001g0135 a0001c0031t0022g0115 a0001c0043t0001g0112 a0001c0046t0004g0068 a0001c0047t0001g0030 a0001c0048t0004g0075 a0001c0054t0001g0015 a0001c0056t0007g0098 a0001c0057t0001g0034 a0001c0059t0007g0100 a0001c0060t0041g0017 a0001c0061t0001g0101 a0001c0063t0017g0095 a0001c0066t0002g0018 a0002c0009t0003g0058 a0002c0009t0006g0093 a0002c0012t0003g0048 a0002c0012t0003g0051 a0002c0012t0003g0052 a0002c0014t0023g0094 a0002c0014t0025g0010 a0002c0020t0003g0107 a0002c0020t0003g0132 a0002c0021t0003g0126 a0002c0021t0003g0140 a0002c0022t0005g0102 a0002c0022t0006g0027 a0002c0025t0006g0104 a0002c0025t0018g0038 a0002c0030t0029g0071 a0002c0035t0006g0124 a0002c0036t0034g0045 a0002c0038t0019g0077 a0002c0042t0001g0119 a0002c0044t0009g0136 a0002c0045t0037g0127 a0002c0050t0008g0020 a0002c0051t0001g0106 a0002c0062t0001g0076 a0002c0064t0039g0108 a0002c0065t0020g0113 a0003c0026t0032g0037 a0003c0027t0001g0081 a0003c0028t0016g0041 a0004c0052t0003g0105 a0005c0058t0027g0011 a0006c0055t0001g0129 a0007c0049t0038g0110 a0008c0037t0005g0003 a0010c0032t0002g0040 a0011c0053t0026g0118 a0012c0067t0003g0066 a0013c0029t0001g0044	128	142	0.9014	-107	c.518 others(15): Show c.518-358_518-252del	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	7/58			chr15	TogoVar
TMEM132B_chr12_125181386_125667369	125527213	TCCATCCA others(100): Show TCCATCCACCCATCCACCCTTCCATCCACCCATCCACCCTTCCATCCACC CGTTTACCCTTCTATCCACCCATCCACCCTTCCATCCACCCTCCACTCTT CCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02109.hp1 HG02486.hp2 others(5): Show HG01074.hp1 HG02109.hp1 HG02486.hp2 HG02630.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0001 others(2): Show a0001c0003 a0001c0004 a0002c0001 a0002c0005 a0002c0006	a0001c0003t0027 a0001c0004t0005 a0002c0001t0009 others(3): Show a0001c0003t0027 a0001c0004t0005 a0002c0001t0009 a0002c0001t0023 a0002c0005t0009 a0002c0006t0008	a0001c0003t0027g0042 a0001c0004t0005g0070 a0002c0001t0009g0063 others(5): Show a0001c0003t0027g0042 a0001c0004t0005g0070 a0002c0001t0009g0063 a0002c0001t0023g0032 a0002c0005t0009g0007 a0002c0005t0009g0008 a0002c0005t0009g0056 a0002c0006t0008g0017	8	128	0.0625	-107	c.129 others(19): Show c.1293+7639_1293+7745del	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255A_chrX_120253650_120316461	120296971	ATTATATA others(100): Show ATTATATATATTATATATATATTATATATAATATATAATATTATATATAT TATATATATATAATATATAATATATAATATAATATATATAATATTATATA TATTATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG02257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0173 a0001c0001t0004g0216 a0001c0001t0002g0173 a0001c0001t0004g0216	2	294	0.0068	-107	c.202 others(17): Show c.202-3027_202-2921del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMEM63B_chr6_44122554_44160519	44159111	AGACTGGG others(100): Show AGACTGGGTGGTAGGCCGGGCAGGAACTCTTTCTCCTCTCCACTGACAGT TGGAGTTGGGGAGAGGAGAGGGGCCGGCCATCCCACTGTCATGGCTGCTG GGGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	-107	c.42 others(11): Show c.4229_*4335del	TMEM63B	ENSG00000137216.19	transcript	ENST00000323267.11	protein_coding		3593		chr6	TogoVar
TMEM63C_chr14_77176798_77264495	77236085	ACTGCGAT others(100): Show ACTGCGATGGGTGGGGGCATGGGGAGACTGTGATGGTAGGGGGAGTCTAG GGAGACTGTGATGGGTGGGGGTCTGGGGAGACTGTGGTGGGTGGGGGGTA TGGGGAGT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0282 a0001c0003t0005g0282	1	320	0.0031	-107	c.543 others(15): Show c.543-535_543-429del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TOP1MT_chr8_143304324_143339880	143316474	TCCCTGCC others(100): Show TCCCTGCCTGTCACAAGTCCCCAGCACCCGGCTTCCCCTGGCGAGTCTGT GGGTCCCTGCCTGTCACAAGTCCCCAGCACCCGGCTTCCCCTGGCGAGTC TGTGGGTC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0182 a0003c0002t0001g0182	1	428	0.0023	-107	c.133 others(17): Show c.1331-455_1331-349del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	10/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143316491	TCCCCAGC others(100): Show TCCCCAGCACCCGGCTTCCCCTGGCGAGTCTGTGGGTCCCTGCCTGTCAC AAGTCCCCAGCACCCGGCTTCCCCTGGCGAGTCTGTGGGTCCCTGCCTGT CACAAGTC	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	428	0.0023	-107	c.133 others(17): Show c.1331-472_1331-366del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	10/13			chr8	TogoVar
TPO_chr2_1408463_1548673	1432617	GGAGGCCT others(100): Show GGAGGCCTGCAGGTGAGGGGAGGCCTGCAGGTGAGGAGAGGCCTGCAGGT GGGGTGAGGCCTGCAGGTGGGGTGAGGCCTGCAGGTGAGGTGAGGCCCCA GGTAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00597.hp2 others(31): Show HG00140.hp2 HG00544.hp1 HG00597.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02132.hp1 HG02257.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18985.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0014 a0015 a0016 a0017	a0001c0001 a0001c0004 a0002c0002 others(14): Show a0001c0001 a0001c0004 a0002c0002 a0002c0015 a0004c0005 a0004c0007 a0004c0032 a0005c0014 a0006c0027 a0007c0009 a0009c0012 a0011c0025 a0012c0033 a0014c0029 a0015c0035 a0016c0030 a0017c0031	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0013 a0002c0002t0014 a0002c0015t0003 a0002c0015t0004 a0004c0005t0001 a0004c0005t0003 a0004c0005t0007 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0005c0014t0001 a0006c0027t0002 a0007c0009t0001 a0009c0012t0002 a0009c0012t0006 a0011c0025t0002 a0012c0033t0001 a0014c0029t0001 a0015c0035t0002 a0016c0030t0004 a0017c0031t0001	a0001c0001t0001g0094 a0001c0001t0002g0083 a0001c0004t0001g0106 others(30): Show a0001c0001t0001g0094 a0001c0001t0002g0083 a0001c0004t0001g0106 a0001c0004t0001g0109 a0001c0004t0001g0113 a0001c0004t0001g0114 a0002c0002t0001g0006 a0002c0002t0003g0011 a0002c0002t0003g0053 a0002c0002t0003g0127 a0002c0002t0013g0121 a0002c0002t0014g0008 a0002c0015t0003g0110 a0002c0015t0004g0112 a0004c0005t0001g0079 a0004c0005t0003g0017 a0004c0005t0007g0080 a0004c0007t0004g0108 a0004c0007t0008g0049 a0004c0007t0008g0099 a0004c0032t0008g0107 a0005c0014t0001g0002 a0006c0027t0002g0111 a0007c0009t0001g0123 a0009c0012t0002g0126 a0009c0012t0006g0124 a0009c0012t0006g0125 a0011c0025t0002g0044 a0012c0033t0001g0098 a0014c0029t0001g0096 a0015c0035t0002g0105 a0016c0030t0004g0115 a0017c0031t0001g0104	34	128	0.2656	-107	c.180 others(15): Show c.180-770_180-664del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(100): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02615.hp2 HG03139.hp2 HG00544.hp1 HG02615.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0078 a0001c0001t0001g0113 a0001c0001t0001g0122	3	51	0.0588	-107	c.188 others(17): Show c.1884+779_1884+885del	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TRIQK_chr8_92878534_92971144	92949680	GAAAGAAA others(100): Show GAAAGAAAGAAAGAAAGAAAAGAGAAAGGAAGGGAGGGAGGGAGGGAGGA AGGAAGGAAGAAAGGAAGGAAAGGGAAGGAAAGAAAGAGAAGGAAAGAAA GAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	332	0.0030	-107	c.-22 others(17): Show c.-22+4619_-22+4725del	TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142261321	GAGGAGAG others(100): Show GAGGAGAGAGGGAGGAGGGAGGGAGGGAGAGTGGGAGGATGAGGGAGGAG GGATGGAGGAGAGAGGGGGGAGGGAGGGATAGTGGGAGGAGAGAGGAAGG AGGGATGA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0018 a0006c0006t0002g0018	1	236	0.0042	-107	c.144 others(21): Show c.1446+13353_1446+13459del	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSPAN33_chr7_129139707_129174699	129173364	TATTTTTA others(100): Show TATTTTTAGTAGAGTCAGGGTTTCACCATGTTGGTCAGGATGGTCTTGAA CTTCTGACCTCAGGTGATCTGACCATCTCAGCCTCCCAAAATGCTGGGAT TACAAGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	430	0.0023	-107	c.54 others(11): Show c.5491_*5597del	TSPAN33	ENSG00000158457.6	transcript	ENST00000486685.3	protein_coding		3666		chr7	TogoVar
TTC33_chr5_40706576_40760961	40738432	AAATATAA others(100): Show AAATATAAAATAAAATACAATACAATACAATACAATACAATACAATACAA TACAATACAATACAATACAATACAATAAAATACAATAAAATAAAATACAA TAAAATAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG03139.hp2 others(3): Show HG02280.hp2 HG02976.hp1 HG03139.hp2 HG03540.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0011 a0001c0001t0015	a0001c0001t0011g0014 a0001c0001t0011g0045 a0001c0001t0015g0268 others(1): Show a0001c0001t0011g0014 a0001c0001t0011g0045 a0001c0001t0015g0268 a0001c0001t0015g0269	6	391	0.0153	-107	c.222 others(17): Show c.222-8196_222-8090del	TTC33	ENSG00000113638.14	transcript	ENST00000337702.5	protein_coding	2/4			chr5	TogoVar
TUBGCP5_chr15_22994177_23044569	23042102	GGTGCCGG others(100): Show GGTGCCGGTGGGACTTCATAACCCCACCTGGCCAGAGGTGCCGGGGGGAC TTCATAACCACACCTGGCCAGAGGTACCGGGGGGACATCATAACCACACC TGGCCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0251 a0001c0002t0002g0251	1	350	0.0029	-107	c.-26 others(11): Show c.-2666_-2560del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2534		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044303	ACATCATA others(100): Show ACATCATAACCTCACCTGGCCAGAGGTGCTGGGGGGTATCATAATCCGAC CTGGCCAGAGATGCTGGGGGGACATCATAACCCCACTTGGCCAGAGGTGC TGTGGGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02647.hp1 HG02723.hp1 others(2): Show HG00735.hp2 HG02647.hp1 HG02723.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0094 others(2): Show a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0126	5	350	0.0143	-107	c.-48 others(11): Show c.-4867_-4761del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4735		chr15	TogoVar
TYMS_chr18_652653_678578	666895	GGTGATGG others(100): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGG TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG ATGGAGAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG02027.hp1 others(15): Show HG00423.hp1 HG00621.hp2 HG02027.hp1 HG02074.hp2 HG02135.hp1 NA18942.hp1 NA18943.hp2 NA18951.hp1 NA18954.hp1 NA18978.hp1 NA18980.hp1 NA18991.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp2 NA19058.hp1 NA19067.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0075 others(15): Show a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0099 a0001c0001t0004g0183 a0001c0001t0004g0347 a0001c0001t0004g0350 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0006g0027 a0001c0001t0009g0093	18	399	0.0451	-107	c.455 others(17): Show c.455-2175_455-2069del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667209	TGATGGAG others(100): Show TGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGATG GTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	420	0.0024	-107	c.455 others(17): Show c.455-1857_455-1751del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UQCC6_chr12_103945194_103962215	103958956	GAGACCAG others(100): Show GAGACCAGATAACAGAAAACCCATGAGTATTACACCCTCTGTAAAAAGTG TTAAATGCACCTTCCCAAAAAGAAACACTGCGTATAACCAACCAAATTGC TGTAACTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	460	0.0022	-107	c.-20 others(11): Show c.-2005_-1899del	UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding		1742		chr12	TogoVar
XIRP2_chr2_166883480_167264753	167214119	AAGGAAGG others(100): Show AAGGAAGGAAGGAAGGAAGCAAAGAGAAAGAGAAAGAAGGAAAGAAAGAG AAAGAAGGAAGGAAGGAAGGAAAGAGAGAGAGAAAGAGAGGGAGGGAGGG AGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02129.hp1 HG03540.hp2 HG00438.hp1 HG02129.hp1 HG03540.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0009 a0002c0002 a0008c0009	a0002c0002t0002 a0008c0009t0002 a0002c0002t0002 a0008c0009t0002	a0002c0002t0002g0156 a0002c0002t0002g0187 a0008c0009t0002g0127 a0002c0002t0002g0156 a0002c0002t0002g0187 a0008c0009t0002g0127	3	190	0.0158	-107	c.723 others(17): Show c.723+3243_723+3349del	XIRP2	ENSG00000163092.22	transcript	ENST00000409195.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZDHHC4_chr7_6572454_6594374	6577120	AAATAAAT others(100): Show AAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA ATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATA AAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp1 NA19084.hp1 HG00733.hp2 HG01168.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0099	3	403	0.0074	-107	c.-54 others(9): Show c.-540_-434del	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		333		chr7	TogoVar
ZFPM1_chr16_88448280_88542031	88471389	GTGCCCAC others(100): Show GTGCCCACAGTGGCTCCCACGCATAGTGGGGGGGCCAAGACCCCAAGATG ACCATGGCTGCGGTGGCTCCTGCTCACAGTGGGGGATGCCAGGACCCCGA GACGACCA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0019 a0019	a0019c0081 a0019c0081	a0019c0081t0001 a0019c0081t0001	a0019c0081t0001g0131 a0019c0081t0001g0131	1	316	0.0032	-107	c.41- others(17): Show c.41-14521_41-14415del	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFYVE28_chr4_2264597_2423645	2398698	CGAGATCC others(100): Show CGAGATCCAGGGCACAAGCGGGGGCAAGATCGAGGGCACAAGGGGGGTAT GAGATCCAGTGCACAAGGTCAGTGGCAGGGGCAAGATCCAGGGCACAAGT GTGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02257.hp2 others(7): Show HG01243.hp1 HG02257.hp1 HG02257.hp2 HG02572.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp2 HG03453.hp2 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0004 a0002c0003 others(3): Show a0001c0001 a0001c0004 a0002c0003 a0002c0032 a0003c0008 a0011c0043	a0001c0001t0004 a0001c0004t0002 a0002c0003t0003 others(4): Show a0001c0001t0004 a0001c0004t0002 a0002c0003t0003 a0002c0003t0004 a0002c0032t0002 a0003c0008t0003 a0011c0043t0001	a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0004t0002g0113 others(7): Show a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0004t0002g0113 a0001c0004t0002g0119 a0001c0004t0002g0270 a0002c0003t0003g0120 a0002c0003t0004g0185 a0002c0032t0002g0273 a0003c0008t0003g0192 a0011c0043t0001g0188	10	282	0.0355	-107	c.39+ others(17): Show c.39+19480_39+19586del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ZMAT4_chr8_40525590_40902826	40601624	AAGAAAGA others(100): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAA AGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	208	0.0048	-107	c.578 others(19): Show c.578-20470_578-20364del	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZNF813_chr19_53462733_53501255	53493437	ATTTCTTT others(100): Show ATTTCTTTAAGTTCTCTAGCAAATGGAAGTGTTTTTAAATTTTCTTTTAA AATTGTTTATTGTTACAAACTTCTCATCTTTTTGCTTTTATTCCTAAGTA TTTCTTAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0061 a0006c0006t0061	a0006c0006t0061g0095 a0006c0006t0061g0095	1	237	0.0042	-107	c.13 others(11): Show c.1355_*1461del	ZNF813	ENSG00000198346.11	transcript	ENST00000396403.9	protein_coding	4/4	1355	INFO_REALIGN_3_PRIME	chr19	TogoVar
ABTB3_chr12_107313434_107664642	107608877	TTAAAATA others(99): Show TTAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAATAAAATAAAATATAAAATAAAATATAAAATA AAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG01074.hp2 others(35): Show HG00099.hp2 HG00621.hp2 HG01074.hp2 HG01243.hp1 HG01496.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02155.hp1 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02965.hp1 HG03017.hp1 HG03139.hp2 HG03471.hp1 HG03834.hp2 NA18522.hp1 NA18942.hp1 NA18954.hp1 NA18964.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18989.hp1 NA19002.hp2 NA19030.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0009 a0002c0031 a0003c0004 a0014c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0005 a0001c0003t0006 a0001c0003t0035 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0023 a0002c0002t0034 a0002c0009t0003 a0002c0009t0029 a0002c0031t0003 a0003c0004t0001 a0003c0004t0016 a0014c0034t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0073 a0001c0001t0002g0042 a0001c0001t0002g0082 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0003g0029 a0001c0001t0004g0031 a0001c0001t0006g0100 a0001c0003t0005g0133 a0001c0003t0005g0135 a0001c0003t0005g0136 a0001c0003t0005g0158 a0001c0003t0006g0140 a0001c0003t0006g0147 a0001c0003t0035g0142 a0002c0002t0001g0045 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0004g0114 a0002c0002t0004g0116 a0002c0002t0004g0127 a0002c0002t0007g0178 a0002c0002t0010g0181 a0002c0002t0010g0182 a0002c0002t0012g0177 a0002c0002t0012g0180 a0002c0002t0023g0121 a0002c0002t0034g0115 a0002c0009t0003g0049 a0002c0009t0003g0050 a0002c0009t0029g0054 a0002c0031t0003g0051 a0003c0004t0001g0040 a0003c0004t0016g0005 a0014c0034t0003g0055	38	149	0.2550	-106	c.164 others(19): Show c.1644-1312_1644-1207del	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16			chr12	TogoVar
ACACB_chr12_109111587_109273226	109194504	GTGTGTGC others(99): Show GTGTGTGCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAC ATTGGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCCCCTGGCCT CTGCCTC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp1 HG03041.hp1 others(2): Show HG02809.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp2 HG03486.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0105 a0001c0106 a0002c0006 others(2): Show a0001c0105 a0001c0106 a0002c0006 a0007c0104 a0009c0103	a0001c0105t0004 a0001c0106t0001 a0002c0006t0005 others(2): Show a0001c0105t0004 a0001c0106t0001 a0002c0006t0005 a0007c0104t0004 a0009c0103t0004	a0001c0105t0004g0293 a0001c0106t0001g0291 a0002c0006t0005g0292 others(2): Show a0001c0105t0004g0293 a0001c0106t0001g0291 a0002c0006t0005g0292 a0007c0104t0004g0183 a0009c0103t0004g0165	5	306	0.0163	-106	c.248 others(17): Show c.2481+782_2481+887del	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	16/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289491	CCGTGTCT others(99): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	292	0.0034	-106	c.39 others(11): Show c.3967_*4072del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2899		chr1	TogoVar
ACOX1_chr17_75936507_75984166	75967635	CATATATA others(99): Show CATATATATACGTATATATATACATACATATATATACATATATATACGTA TATATATACATACATATATATACATATATATATACACATATATATATATA CACGTAT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0324 a0002c0002t0001g0324	1	208	0.0048	-106	c.270 others(17): Show c.270-7366_270-7261del	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACSBG2_chr19_6130667_6198091	6174374	TCTCAAAG others(99): Show TCTCAAAGGAAAGAGAAACAAATTCCACCTCAGAATGGGAGGAGTAGCAG AGAATCTGCAGCTCTGTTTAATCTACCACATATACATAAAATGCTTAGAA CAATGCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	260	0.0038	-106	c.739 others(17): Show c.739-2854_739-2749del	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14			chr19	TogoVar
ADAM9_chr8_38991973_39110261	39045105	CATACATA others(99): Show CATACATACATATGTGTGTGTGCATACATACATATATGTGTATATATGTG TATACATACATATATGTGTATATATGTGTATACATACATATATGTGTATA TATGTGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01993.hp2 HG02602.hp1 others(4): Show HG00733.hp2 HG01993.hp2 HG02602.hp1 HG02723.hp2 HG03491.hp1 NA18973.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0098 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0224	7	288	0.0243	-106	c.130 others(19): Show c.1302+3001_1302+3106del	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results