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

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

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
SSX1_chrX_48250392_48272444	48266158	TGTGAAAA others(148): Show TGTGAAAAACTGGATAAAGAAGGCCCATGGGCACTTGGGAGGGAGGAGGC ATCTCCTTTTTTTGAGAAAACAGAGCCTAACACTCTTCAACGTACCCAAC CCTCATCTTCCAACTCTTCTCCATCATAGGACCCAAAAGGGGGAAACATG CCTGGA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG04115.hp1 HG04115.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0118 a0007c0007t0003g0118	1	339	0.0030	-155	c.467 others(11): Show c.467-128_493del	p.Gly others(19): Show p.Gly156_Thr165delinsAla	SSX1	ENSG00000126752.8	transcript	ENST00000376919.4	protein_coding	7/8	467/567	156/188			chrX	TogoVar
STK32B_chr4_5046480_5505989	5064488	GTTATATA others(148): Show GTTATATACATATATAATATATAAATATATACTTATATACATATATAATA TATAAATATATACTTATATACATATATAATATATAAATATATACTTATAT ACATATATAATATATAAATATATACTTATATACATATATAATATATAAAT ATATAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 NA18974.hp1 HG00408.hp2 HG00544.hp1 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0003t0003 a0002c0002t0001 a0001c0001t0003 a0001c0003t0003 a0002c0002t0001	a0001c0001t0003g0105 a0001c0003t0003g0036 a0002c0002t0001g0059 a0001c0001t0003g0105 a0001c0003t0003g0036 a0002c0002t0001g0059	3	170	0.0177	-155	c.52+ others(17): Show c.52+12733_52+12887del		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr4	TogoVar
STK38L_chr12_27239286_27330959	27241029	ATGTATAG others(148): Show ATGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATATT ACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTATA GTTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATA TGACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp1 others(23): Show HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp1 HG01358.hp1 HG02074.hp2 HG03041.hp2 NA18939.hp1 NA18943.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18970.hp1 NA18972.hp2 NA18988.hp1 NA18991.hp2 NA18994.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19081.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016	a0001c0001t0001g0059 a0001c0001t0003g0006 a0001c0001t0003g0007 others(22): Show a0001c0001t0001g0059 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0003g0051 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0004g0072 a0001c0001t0004g0333 a0001c0001t0013g0070 a0001c0001t0016g0048	26	374	0.0695	-155	c.-33 others(11): Show c.-3314_-3160del		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding				3256		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241243	ACTCTGTA others(148): Show ACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATAT ATTACATATATGACTCTGTATAGTTATATATTACATATATGACTCTGTAT AGTTATATATATTACATATATGACTCTGTATAGTTATATATATTACATAT ATGACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	374	0.0027	-155	c.-31 others(11): Show c.-3100_-2946del		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding				3042		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241274	ACTCTGTA others(148): Show ACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATAT TACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTAT AGTTATATATATTACATATATGACTCTGTATAGTTATATATATTACATAT ATGACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19078.hp1 NA19076.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0086 a0001c0001t0010g0332 a0001c0001t0003g0086 a0001c0001t0010g0332	2	374	0.0054	-155	c.-30 others(11): Show c.-3069_-2915del		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding				3011		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241438	TTATATAT others(148): Show TTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATAT GACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATA TATTACATATATGACTCTGTATAGTTATATATTACATATATGACTCTGTA TAGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	374	0.0027	-155	c.-29 others(11): Show c.-2905_-2751del		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding				2847		chr12	TogoVar
TAFA5_chr22_48484553_48756932	48497949	AAGAGTGG others(148): Show AAGAGTGGGGTGGGGCCCACCTGGAGGCGGGGCTGAAGAGTGGGGTGGGG CCCACCTGGAGGCGGGGCTGAAGAGTGGGCTGAGGGTAGGAGAGGCTGCA AGCCTAGGGGTGGGGCTGCAAGCCTGGGGGCGGGGCTGAAGGGGCAGGGC TGGGGG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0034 a0001c0001t0033g0034	1	258	0.0039	-155	c.112 others(17): Show c.112+8246_112+8400del		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859423	CTTTTTTG others(148): Show CTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG03041.hp2 HG02809.hp1 HG02895.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0023g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0023g0103	3	112	0.0268	-155	c.638 others(19): Show c.638-19224_638-19070del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12				INFO_REALIGN_3_PRIME	chr22	TogoVar
TFAP2C_chr20_56624306_56644283	56641449	TCCTGCCT others(148): Show TCCTGCCTCAGCCTCCCGACTAGCTGGGACTACAGTCGCCCGCCACCACG CCCAGCTGATTTTTTTGTATTTTTTAGTAGAGGCGGGGTTTCACCATGTT AGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCTGCCTCGGCCT CCCAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG03225.hp1 HG01243.hp1 HG02559.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0031 a0001c0001t0010g0052 a0001c0001t0010g0031 a0001c0001t0010g0052	3	360	0.0083	-155	c.34 others(11): Show c.3437_*3591del		TFAP2C	ENSG00000087510.7	transcript	ENST00000201031.3	protein_coding				2167		chr20	TogoVar
THSD7B_chr2_136760545_137682718	136890367	CTTCTTCT others(148): Show CTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTT CTTCTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTTCTTC TTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0072 a0001c0013t0002g0072	1	98	0.0102	-155	c.139 others(17): Show c.139+8051_139+8205del		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27					chr2	TogoVar
TMEM132D_chr12_129066726_129909025	129479718	GTGAAGAA others(148): Show GTGAAGAAAGTTCTCACTGTGTCCTAGAGATTTGAAGAAAGTTCTCACTG TGTCCTAGAGATTTGAAGAAAGTTCTCACTGTGTCCTAGAGATTTGAAGA AAGTTCTCACTGTGTCCTAGAGATTTGAAGAAAGTTCTCACTGTGTCCTA GAGATT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0062 a0001c0014t0001g0062	1	94	0.0106	-155	c.111 others(21): Show c.1115+51186_1115+51340del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8					chr12	TogoVar
TMEM163_chr2_134450759_134724000	134607414	ATGAAAAG others(148): Show ATGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGG	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	222	0.0045	-155	c.323 others(19): Show c.323-55478_323-55324del		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7					chr2	TogoVar
TMEM255B_chr13_113754226_113821995	113788047	AGTGGGGA others(148): Show AGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG02572.hp1 others(15): Show HG00639.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0006 a0002c0003 a0005c0011 a0001c0006 a0002c0003 a0005c0011	a0001c0006t0016 a0001c0006t0163 a0002c0003t0013 others(10): Show a0001c0006t0016 a0001c0006t0163 a0002c0003t0013 a0002c0003t0029 a0002c0003t0064 a0002c0003t0122 a0002c0003t0125 a0002c0003t0126 a0002c0003t0127 a0002c0003t0128 a0002c0003t0132 a0002c0003t0133 a0005c0011t0069	a0001c0006t0016g0010 a0001c0006t0016g0095 a0001c0006t0016g0096 others(14): Show a0001c0006t0016g0010 a0001c0006t0016g0095 a0001c0006t0016g0096 a0001c0006t0163g0010 a0002c0003t0013g0161 a0002c0003t0013g0164 a0002c0003t0013g0166 a0002c0003t0029g0018 a0002c0003t0064g0233 a0002c0003t0122g0047 a0002c0003t0125g0231 a0002c0003t0126g0232 a0002c0003t0127g0048 a0002c0003t0128g0039 a0002c0003t0132g0162 a0002c0003t0133g0163 a0005c0011t0069g0165	18	260	0.0692	-155	c.253 others(17): Show c.253-6900_253-6746del		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8				INFO_REALIGN_3_PRIME	chr13	TogoVar
TSNARE1_chr8_142207080_142408182	142390585	GCAGACGC others(148): Show GCAGACGCTGTACACTGCTGGGGACTCCATAGCAGACGCTGTACACTGCG GGGGACTCTGTAACAGAAGCTGTACACTGCGGGGGACTCCGTAACAGACG CTGTACACTGCGGGGGACTCCGTAACAGAAGCTGTACACTGCGGGGGACT CCGTAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02145.hp1 others(5): Show HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp2 HG03041.hp1 HG03516.hp2 HG03579.hp2 NA19240.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0002c0002t0002 a0005c0005t0001 a0002c0002t0001 a0002c0002t0002 a0005c0005t0001	a0002c0002t0001g0163 a0002c0002t0001g0186 a0002c0002t0002g0145 others(5): Show a0002c0002t0001g0163 a0002c0002t0001g0186 a0002c0002t0002g0145 a0002c0002t0002g0161 a0002c0002t0002g0188 a0005c0005t0001g0180 a0005c0005t0001g0181 a0005c0005t0001g0182	8	238	0.0336	-155	c.-40 others(19): Show c.-40+12364_-40+12518del		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13					chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142390616	GCAGACGC others(148): Show GCAGACGCTGTACACTGCGGGGGACTCTGTAACAGAAGCTGTACACTGCG GGGGACTCCGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGAAG CTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACACTGCGGGGGACT CCGTAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02056.hp2 HG01109.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0197 a0002c0002t0007g0223 a0002c0002t0002g0197 a0002c0002t0007g0223	2	238	0.0084	-155	c.-40 others(19): Show c.-40+12333_-40+12487del		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13					chr8	TogoVar
UBE2J2_chr1_1248912_1278854	1269099	CCATGCAA others(148): Show CCATGCAAGAGAGGAGGCTGGATCAGGGACCCCAAGGCCCCTCAGCCACA CCCGAGACTGGGGAGAGGGGTGGTGATCATCATGCAAGAGAGGAGGCTGG ATCAGGGACCCCAAGGCCCCTCAGCCACACCCGAGACTGGGGAGAGGGGT GGTGAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19240.hp2 HG01069.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0037 a0001c0001t0002g0038	2	324	0.0062	-155	c.1-1 others(13): Show c.1-1262_1-1108del		UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding	1/6					chr1	TogoVar
VIPR2_chr7_159023175_159149867	159132762	CTGATTTC others(148): Show CTGATTTCAGACAGAATGATTGGCATACAGACTGATTTCAGACAGAATGA TTGGCATACCGATTGATTTGAGACAGAATGATTGGCATACCGATTGATTT TAGACAGAATGATTGGCATACAGATTGATTTCAGACAGAATGATTGGCAT ACAGAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	336	0.0030	-155	c.151 others(17): Show c.151+9529_151+9683del		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12					chr7	TogoVar
XXYLT1_chr3_195063284_195276159	195272792	AAAAAAAG others(148): Show AAAAAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGA GAGGCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTG AGCCGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCC TGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	198	0.0051	-155	c.-18 others(11): Show c.-1889_-1735del		XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding				1634		chr3	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(148): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 HG03834.hp2 HG01884.hp1 HG02818.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0075 a0002c0003t0170 a0002c0009t0034 a0002c0003t0075 a0002c0003t0170 a0002c0009t0034	a0002c0003t0075g0217 a0002c0003t0170g0109 a0002c0009t0034g0111 a0002c0003t0075g0217 a0002c0003t0170g0109 a0002c0009t0034g0111	3	346	0.0087	-155	c.181 others(21): Show c.1811-12664_1811-12510del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6					chr18	TogoVar
ABLIM1_chr10_114426112_114663275	114647208	AGACTGGT others(147): Show AGACTGGTCTTGAACTGCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCC CAAAGTACTGAGATTACAGGCGTGAGCCACCGTGCCCAGCCTAGGCAGTT ATTAAGTAGCCACTGCCCCTATAATGCCACTGGCTACCAAGTGAAGATAG AGTCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02818.hp2 others(3): Show HG02109.hp2 HG02615.hp1 HG02818.hp2 HG03209.hp2 HG03471.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0009	a0001c0001t0047 a0001c0001t0122 a0001c0002t0021 others(3): Show a0001c0001t0047 a0001c0001t0122 a0001c0002t0021 a0001c0002t0096 a0001c0003t0035 a0002c0009t0063	a0001c0001t0047g0162 a0001c0001t0122g0141 a0001c0002t0021g0143 others(3): Show a0001c0001t0047g0162 a0001c0001t0122g0141 a0001c0002t0021g0143 a0001c0002t0096g0142 a0001c0003t0035g0140 a0002c0009t0063g0144	6	256	0.0234	-154	c.244 others(19): Show c.244+10595_244+10748del		ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22					chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288547	TCCCCCGT others(147): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19067.hp1 NA18964.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0079 a0001c0002t0001g0080	2	295	0.0068	-154	c.48 others(11): Show c.4863_*5016del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding				3843		chr1	TogoVar
ALOXE3_chr17_8090900_8123514	8107844	AGAAAGAA others(147): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAA GGAAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp1 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0345 a0001c0002t0003g0382 a0001c0002t0001g0345 a0001c0002t0003g0382	2	422	0.0047	-154	c.168 others(17): Show c.1684+470_1684+623del		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15					chr17	TogoVar
AMFR_chr16_56356452_56430545	56397703	AATCATTT others(147): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATA AATGT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	356	0.0028	-154	c.108 others(19): Show c.1085+3876_1085+4029del		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13					chr16	TogoVar
ANO9_chr11_412938_447011	436866	GTGAGCAG others(147): Show GTGAGCAGGGGGTGAGCAGGGGGTAAGCAGGAGGTGAGCAGGGGGTGAGC GGGGGGTGAGCAGGAGGTGAGCAGGGGGTGAGCAGGGGGTGAGCAGGGGG TGAGCAGGGGGTGAGCAGTGGGTGAGCGGGAGGTGAGCGGGGAGTGAGCT GGAGA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp2 HG01981.hp2 others(2): Show HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0271	5	286	0.0175	-154	c.7-2 others(13): Show c.7-2922_7-2769del		ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22					chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1954944	TGGATAGC others(147): Show TGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTG GAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTTTCT GGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCT CTGGA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG01891.hp1 others(15): Show HG00738.hp2 HG01243.hp1 HG01891.hp1 HG01978.hp1 HG02257.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1 HG03579.hp2 NA18906.hp2 NA18957.hp2 NA18974.hp1 NA19011.hp2 NA19086.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0001c0003 a0001c0011 others(8): Show a0001c0002 a0001c0003 a0001c0011 a0001c0012 a0001c0023 a0001c0041 a0001c0046 a0001c0123 a0001c0141 a0002c0025 a0012c0084	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(12): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0008 a0001c0011t0001 a0001c0012t0003 a0001c0023t0001 a0001c0023t0007 a0001c0041t0004 a0001c0046t0001 a0001c0123t0001 a0001c0141t0007 a0002c0025t0013 a0012c0084t0003	a0001c0002t0001g0211 a0001c0002t0001g0267 a0001c0002t0002g0002 others(15): Show a0001c0002t0001g0211 a0001c0002t0001g0267 a0001c0002t0002g0002 a0001c0002t0002g0269 a0001c0002t0003g0151 a0001c0003t0001g0183 a0001c0003t0008g0288 a0001c0011t0001g0015 a0001c0012t0003g0347 a0001c0023t0001g0034 a0001c0023t0007g0090 a0001c0041t0004g0172 a0001c0046t0001g0332 a0001c0046t0001g0333 a0001c0123t0001g0335 a0001c0141t0007g0099 a0002c0025t0013g0116 a0012c0084t0003g0356	18	363	0.0496	-154	c.352 others(19): Show c.3521-1709_3521-1556del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28				INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955063	CCCTGAAA others(147): Show CCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGC TCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTG CTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCCAGG TGCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02572.hp1 HG02615.hp1 others(2): Show HG01261.hp1 HG02572.hp1 HG02615.hp1 HG06807.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0052 others(1): Show a0001c0002 a0001c0003 a0001c0052 a0002c0028	a0001c0002t0001 a0001c0003t0003 a0001c0052t0032 others(2): Show a0001c0002t0001 a0001c0003t0003 a0001c0052t0032 a0001c0052t0052 a0002c0028t0001	a0001c0002t0001g0327 a0001c0003t0003g0362 a0001c0052t0032g0149 others(2): Show a0001c0002t0001g0327 a0001c0003t0003g0362 a0001c0052t0032g0149 a0001c0052t0052g0336 a0002c0028t0001g0285	5	363	0.0138	-154	c.352 others(19): Show c.3521-1636_3521-1483del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28				INFO_REALIGN_3_PRIME	chr8	TogoVar
ASMTL_chrX_1398139_1457909	1404124	AGATGGAT others(147): Show AGATGGATGGTTGGGTGAATAGATGGTAGATGATGGGTACGTAGGTAGAT GGATGGATAGATGGATGCATGGATGAGATGGATGGGTGAATAGATGGTAG ATGATGGGTAGGTAGGTAGATGAATGGATGGATAGATGGATGCATGGATG AGATG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0147 a0013c0036t0001g0147	1	185	0.0054	-154	c.164 others(17): Show c.1646-789_1646-636del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12					chrX	TogoVar
ATP11A_chr13_112685038_112892168	112779105	TGAGTAGC others(147): Show TGAGTAGCCACTGGAGTGAGTAGCCGCTGGAGTGAGTAGCCGCTGGAGTG AGGAGTAGCCACTGGAGTACGAGTAGCCGCTGGAGTGAGGAGTAGCCACT GGAGTGAGTAGCCGCTGGAGTGAGGAGTAGCCACTGGAGTAGCCGCTGGA GTGAG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0076 a0001c0017t0076	a0001c0017t0076g0154 a0001c0017t0076g0154	1	254	0.0039	-154	c.40- others(15): Show c.40-6021_40-5868del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
ATRN_chr20_3466018_3656118	3477470	GCAATGTA others(147): Show GCAATGTAAGTTCCATGAGGGCAGGGGCCTGGAGCATAGTTCACAAGTCC AGTTTAGGCTGATCTGCTTTCCCCAGTGCAATGTAAGTTCCATGAGGGCA GGGGCCTGGAGCATAGTTCACAAGTCCAGTTTAGGCTGATCTGCTTTCCC CAGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG01891.hp1 others(8): Show HG00323.hp1 HG01243.hp2 HG01891.hp1 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03453.hp1 HG03579.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0009c0019 a0009c0020	a0001c0002t0003 a0001c0003t0002 a0001c0003t0031 others(4): Show a0001c0002t0003 a0001c0003t0002 a0001c0003t0031 a0001c0005t0007 a0001c0006t0003 a0009c0019t0004 a0009c0020t0014	a0001c0002t0003g0028 a0001c0003t0002g0214 a0001c0003t0002g0215 others(8): Show a0001c0002t0003g0028 a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0031g0218 a0001c0005t0007g0213 a0001c0006t0003g0211 a0001c0006t0003g0212 a0009c0019t0004g0210 a0009c0020t0014g0209	11	220	0.0500	-154	c.410 others(17): Show c.410+6070_410+6223del		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28				INFO_REALIGN_3_PRIME	chr20	TogoVar
C12orf56_chr12_64259762_64395758	64366763	TACAGTTT others(147): Show TACAGTTTATATATATTATATATAACATACAGTTTATATATATTATATAT AACATACAGTTTATATATATTATATATAACATACAGTTTATATATATTAT ATAACATACAGTTTATATATATTATATAACATACAGTTTATATATTATAT ATAAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	312	0.0064	-154	c.253 others(19): Show c.253-13861_253-13708del		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12					chr12	TogoVar
CAMSAP3_chr19_7590863_7623304	7599310	TCCACCCA others(147): Show TCCACCCACCCCACTCATCCATCCACCCACGCACTCATCCATCCACCCAT CCATCCACCCACTCATCCATCCATCCACCCATCCATCCACCCATTCATTC ATCCATCCATCCATCCACCCACCTACCCACTGCACTCATCCATCCACCCA CCCAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18952.hp1 NA18957.hp2 others(2): Show HG00597.hp1 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067	5	358	0.0140	-154	c.148 others(17): Show c.148+3232_148+3385del		CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16				INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC77_chr12_396644_447642	421793	CTGTGTGT others(147): Show CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACA CTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGA GGGTAAATACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTT CTGTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00738.hp1 others(51): Show HG00609.hp2 HG00621.hp2 HG00738.hp1 HG01496.hp2 HG01934.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02300.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG04204.hp2 NA18747.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp2 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0010	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0003 a0010c0010t0003	a0001c0001t0002g0003 a0001c0001t0002g0049 a0001c0001t0002g0074 others(49): Show a0001c0001t0002g0003 a0001c0001t0002g0049 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0099 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0181 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0246 a0001c0001t0003g0247 a0002c0002t0001g0079 a0002c0002t0001g0107 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0296 a0003c0003t0003g0069 a0010c0010t0003g0076	54	432	0.1250	-154	c.413 others(17): Show c.413+3166_413+3319del		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12				INFO_REALIGN_3_PRIME	chr12	TogoVar
CCKAR_chr4_26476396_26495484	26492417	TTCTTTCC others(147): Show TTCTTTCCCTTCCTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCC TTTCTTTCTCTCTCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCT TTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTC CTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0095 a0001c0001t0001g0096	2	454	0.0044	-154	c.-23 others(11): Show c.-2304_-2151del		CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding				1934		chr4	TogoVar
CDH4_chr20_61247261_61945617	61350082	CTCTCCCA others(147): Show CTCTCCCACCCAGCGTCAGGCAGACACCTCCCCCTCCCCCAGTGCTGCAG AGGCCAGCGGAACACCTCTGACCTTGCCTCTCCCACCCAGCGTCAGGCAG ACACCTCCCCCTCCCCCAGTGCTGCAGAGGCCAGCGGAACACCTCTGACC TTGCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp2 HG02647.hp2 others(3): Show HG02145.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG03130.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0020 others(1): Show a0001c0001 a0001c0006 a0001c0020 a0002c0002	a0001c0001t0009 a0001c0001t0019 a0001c0001t0038 others(3): Show a0001c0001t0009 a0001c0001t0019 a0001c0001t0038 a0001c0006t0006 a0001c0020t0006 a0002c0002t0005	a0001c0001t0009g0013 a0001c0001t0019g0091 a0001c0001t0038g0092 others(3): Show a0001c0001t0009g0013 a0001c0001t0019g0091 a0001c0001t0038g0092 a0001c0006t0006g0029 a0001c0020t0006g0094 a0002c0002t0005g0022	6	106	0.0566	-154	c.169 others(19): Show c.169+95205_169+95358del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15				INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61350142	AACACCTC others(147): Show AACACCTCTGACCTTGCCTCTCCCACCCAGCGTCAGGCAGACACCTCCCC CTCCCCCAGTGCTGCAGAGGCCAGCGGAACACCTCTGACCTTGCTTCTCC CACCCAGCGTCAGGCAGACACCTCCCCCTCCCCCAGTGCTGCAGAGGCCA GCGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(44): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18941.hp1 NA18952.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(13): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0002c0002 a0002c0004 a0002c0008 a0002c0009 a0002c0014 a0002c0016 a0002c0026 a0003c0017 a0003c0018 a0004c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0040 a0001c0001t0051 a0001c0003t0001 a0001c0003t0005 a0001c0003t0017 a0001c0003t0036 a0001c0003t0037 a0001c0003t0052 a0001c0003t0053 a0001c0006t0021 a0001c0006t0029 a0001c0006t0049 a0001c0007t0010 a0001c0007t0046 a0001c0010t0009 a0001c0011t0008 a0002c0002t0004 a0002c0002t0016 a0002c0002t0041 a0002c0004t0003 a0002c0004t0013 a0002c0004t0026 a0002c0008t0001 a0002c0008t0004 a0002c0009t0035 a0002c0014t0003 a0002c0016t0004 a0002c0026t0015 a0003c0017t0002 a0003c0018t0045 a0004c0019t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0049 others(44): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0002g0007 a0001c0001t0002g0057 a0001c0001t0002g0088 a0001c0001t0011g0005 a0001c0001t0011g0033 a0001c0001t0014g0106 a0001c0001t0017g0065 a0001c0001t0018g0031 a0001c0001t0040g0055 a0001c0001t0051g0083 a0001c0003t0001g0020 a0001c0003t0005g0054 a0001c0003t0017g0067 a0001c0003t0036g0043 a0001c0003t0037g0023 a0001c0003t0052g0064 a0001c0003t0053g0074 a0001c0006t0021g0004 a0001c0006t0029g0035 a0001c0006t0049g0071 a0001c0007t0010g0018 a0001c0007t0010g0044 a0001c0007t0046g0066 a0001c0010t0009g0045 a0001c0011t0008g0003 a0001c0011t0008g0101 a0002c0002t0004g0068 a0002c0002t0004g0077 a0002c0002t0016g0073 a0002c0002t0041g0087 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0003g0034 a0002c0004t0013g0021 a0002c0004t0026g0050 a0002c0008t0001g0028 a0002c0008t0004g0041 a0002c0009t0035g0026 a0002c0014t0003g0090 a0002c0016t0004g0042 a0002c0026t0015g0079 a0003c0017t0002g0053 a0003c0018t0045g0052 a0004c0019t0001g0015	47	106	0.4434	-154	c.169 others(19): Show c.169+95299_169+95452del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15				INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPVL3_chrX_51612020_51623912	51621536	CTTGTTCT others(147): Show CTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03831.hp2 HG02622.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	2	298	0.0067	-154	c.-28 others(11): Show c.-2817_-2664del		CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding				2625		chrX	TogoVar
CERCAM_chr9_128415857_128442347	128437860	TACACATA others(147): Show TACACATACACGTATATACACGTATATACACATACACGTATATACACGTA TATACACATACACGTATATACACGTATATACACACACGTATATACACGTA TATACACACACGTATATACACGTATATACACACACGTATATACACGTATA TACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	400	0.0025	-154	c.10 others(11): Show c.1013_*1166del		CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding				514		chr9	TogoVar
CFAP299_chr4_80330730_80968750	80799796	TTATATAA others(147): Show TTATATAATATATAAATATATATATTATATATATTTATATATTATATTAT ATAATATATAAATATATATTATATATATTATATTATATAATATATAAATT ATATATTATAATATAATATATAATATATATATTTATATATTATATTATAT AAATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp2 HG03225.hp2 others(1): Show HG02486.hp2 HG02976.hp2 HG03225.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001	a0001c0003t0001g0038 a0001c0003t0002g0084 a0001c0003t0002g0090 others(1): Show a0001c0003t0001g0038 a0001c0003t0002g0084 a0001c0003t0002g0090 a0002c0002t0001g0021	4	96	0.0417	-154	c.334 others(19): Show c.334-70195_334-70042del		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr4	TogoVar
CHRM2_chr7_136863652_137025213	136973170	ATGATGGT others(147): Show ATGATGGTGACGGTGTTAGGGATGGTGGCGACGGTGTTAGGGATGGTGGC AGGTGATGATGGTGACGGTGTTAGGGATGGTGGCAGGTGATGATGGTGAC GGTGTTAGGGATGGTGGCAGGTGATGATGGTGACGGTGTTAGGGATGGTG GCAGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp2 HG03579.hp1 others(2): Show HG02895.hp2 HG03139.hp2 HG03579.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023	a0001c0001t0013g0068 a0001c0001t0013g0070 a0001c0001t0013g0247 others(2): Show a0001c0001t0013g0068 a0001c0001t0013g0070 a0001c0001t0013g0247 a0001c0001t0014g0093 a0001c0001t0023g0245	5	320	0.0156	-154	c.-12 others(21): Show c.-124-18988_-124-18835del		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3				INFO_REALIGN_3_PRIME	chr7	TogoVar
COP1_chr1_175939831_176212286	176132654	CTATATAT others(147): Show CTATATATACACACATATACACATATGTACGTATATATACTATATATACA CACATATACACATATGTACGTATATATACTATATATACACACATATACAC ATATGTACGTATATATACTATATATACACACATATACACATATGTACGTA TATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01069.hp2 others(22): Show HG00099.hp1 HG00609.hp1 HG01069.hp2 HG01243.hp1 HG01257.hp1 HG01433.hp2 HG01934.hp1 HG02074.hp2 HG02135.hp2 HG02300.hp2 HG02559.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 NA18948.hp2 NA18954.hp2 NA18965.hp2 NA18970.hp2 NA18979.hp2 NA18981.hp1 NA19005.hp2 NA19043.hp2 NA19084.hp2 NA19085.hp1 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0006c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0003c0004t0001 a0006c0008t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0160 others(22): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0190 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0004g0270 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0002t0002g0014 a0003c0004t0001g0189 a0003c0004t0001g0195 a0003c0004t0001g0226 a0003c0004t0001g0227 a0006c0008t0001g0260	25	300	0.0833	-154	c.968 others(17): Show c.968+2202_968+2355del		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19					chr1	TogoVar
CPLX1_chr4_779957_831129	789911	GGTTCCCC others(147): Show GGTTCCCCCACCCCAACAGGTGGCCACGCCTGAAGGCAGGGTTCCCCTAC CCCAACAGGTGGCCACGCCTGAAGGCAGGGTTCCCCCACCCCAACAGGTG GCCACGCCTGAGGGCGGGGTTCCCCCACCCCCCAAAGGCCACGCCTGAGG GCAGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(100): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18946.hp1 NA18951.hp1 NA18954.hp2 NA18960.hp2 NA18967.hp2 NA18970.hp1 NA18983.hp2 NA18987.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19065.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(8): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0003t0007	a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0025 others(91): Show a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0025 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0049 a0001c0001t0004g0057 a0001c0001t0004g0064 a0001c0001t0004g0070 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0122 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0240 a0001c0001t0004g0250 a0001c0001t0004g0264 a0001c0001t0007g0012 a0001c0001t0007g0107 a0001c0001t0007g0138 a0001c0001t0007g0194 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0007g0257 a0001c0001t0007g0259 a0001c0001t0007g0261 a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0007g0293 a0001c0001t0007g0305 a0001c0001t0007g0320 a0001c0001t0007g0340 a0001c0001t0008g0008 a0001c0001t0008g0016 a0001c0001t0008g0054 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0260 a0001c0001t0008g0265 a0001c0001t0008g0284 a0001c0001t0008g0295 a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0335 a0001c0001t0008g0336 a0001c0001t0008g0339 a0001c0001t0008g0342 a0001c0001t0008g0343 a0001c0001t0008g0344 a0001c0001t0008g0345 a0001c0001t0011g0009 a0001c0001t0011g0087 a0001c0001t0011g0105 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0153 a0001c0001t0011g0176 a0001c0001t0011g0328 a0001c0001t0011g0379 a0001c0001t0017g0100 a0001c0001t0017g0126 a0001c0001t0018g0024 a0001c0001t0021g0323 a0001c0001t0023g0348 a0001c0001t0024g0281 a0001c0001t0027g0287 a0001c0003t0007g0327	103	416	0.2476	-154	c.207 others(17): Show c.207+2368_207+2521del		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	3/3					chr4	TogoVar
CYTH1_chr17_78669048_78787273	78760382	TATACACA others(147): Show TATACACACACATACATATATATATGTGTATATATATATATATACACATA CATATATATATGTATATATATATACATACATATATATATGTATATATATG TATGTATATATATATACATATATATGTATATATATGTATATATATATATA CATAC	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	378	0.0027	-154	c.22+ others(17): Show c.22+21666_22+21819del		CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13					chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051920	CGCGGGAG others(147): Show CGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCG GGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGG CGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAG GTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0351 a0001c0001t0019g0351	1	408	0.0025	-154	c.-82 others(9): Show c.-828_-675del		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding				289		chr17	TogoVar
DIP2C_chr10_269201_694668	679337	ATGCTCCC others(147): Show ATGCTCCCCACACCCATCCTCTTCGCGCCCATGCTCCCCGCATCCGTCCT CCCCGCGCCCATGCTCCCCACACCCAGGCTCCCCGCGCCCATCTGTACTC CCCACACCCAGGCTCCCTGCACCCGTCCTCCCCACACCCCTGCTCCCCAC ACCCC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	88	0.0114	-154	c.85+ others(17): Show c.85+10003_85+10156del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36					chr10	TogoVar
DLGAP2_chr8_732628_1713476	992687	ACCCCCTG others(147): Show ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGC CTGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CTCCT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	-154	c.73+ others(17): Show c.73+84722_73+84875del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					chr8	TogoVar
DLGAP2_chr8_732628_1713476	1180971	ACACTTAC others(147): Show ACACTTACTGTCGAGTGTGGGTGGCTGTGCAAGGGCAGTACACTTACTGT CGAGTGTGGGTGGCTGTGCAAGGGCAGTACACTTACTGTCGAGTGTGGGT GGCTGTGCAAGGGCAGTCACTTACTGTCGAGTGTGGGTGGCTGTGCAAGG GCAGT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	-154	c.74- others(17): Show c.74-77763_74-77610del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566663	CTCTGTCT others(147): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGT GAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA CTCTG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03139.hp2 HG03453.hp1 others(3): Show HG02155.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0001g0189 a0001c0001t0001g0213	6	340	0.0177	-154	c.641 others(17): Show c.641-1663_641-1510del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137567815	CTCTGTCT others(147): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA CTCTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	340	0.0029	-154	c.641 others(17): Show c.641-2815_641-2662del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DUXA_chr19_57149021_57172485	57172030	GGGGGCGG others(147): Show GGGGGCGGGGCGTGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGGGGCGCG CGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGC GCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCG CGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	446	0.0022	-154	c.-47 others(11): Show c.-4741_-4588del		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding				4546		chr19	TogoVar
ERC2_chr3_55503311_56473467	55583390	CCTTCCTT others(147): Show CCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTCCCTCCCTCCTTCCCCTCTCTCCCTTCCTCCCTCCCCTCCATCCC TCTCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	74	0.0135	-154	c.40 others(19): Show c.40-72268_*40-72115del		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17					chr3	TogoVar

Search by Variant

Search

Search Results