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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ITGB1_chr10_32895318_32963230	32895945	GAGGGGGT others(80): Show GAGGGGGTGCTGAACTGTTTTCCACAGTGGCTGCACCATTTTACATTCCC ACCAGCAGTGCATTCTGGTTTCTGATTTCTATCCTTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	422	0.0024	-87	c.55 others(98): Show c.5538_*5624delGCAAGGATAGAAATCAGAAACCAGAATGCACTGC TGGTGGGAATGTAAAATGGTGCAGCCACTGTGGAAAACAGTTCAGCACCC CCT		ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding					4372		chr10	TogoVar
ITGB5_chr3_124756948_124892365	124789990	TCAGAACC others(80): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	346	0.0029	-87	c.169 others(106): Show c.1693+6311_1693+6397delTTAACCCTGTCTAGTCAGAGGCGGTT CTGATAACCCTGTCTAGTCAGAGGCGGTTCTGATAACCCTGTCTAGTCAG AGGCGGTTCTG		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14						chr3	TogoVar
ITGB5_chr3_124756948_124892365	124790164	TCAGAACC others(80): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0008 a0001c0001t0007g0006 a0001c0001t0007g0008	2	349	0.0057	-87	c.169 others(106): Show c.1693+6137_1693+6223delTTAACCCTGTCTAGTCAGAGGCGGTT CTGATAACCCTGTCTAGTCAGAGGCGGTTCTGATAACCCTGTCTAGTCAG AGGCGGTTCTG		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14						chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132149784	CCACCCCA others(80): Show CCACCCCACCCTACCTCACCCCTGCCCCCACCCCGCCCTACCTCACCCCT GCCCCCACCCTGCCCTACCTCACCCCTGCCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0146 a0004c0009t0002g0146	1	156	0.0064	-87	c.194 others(104): Show c.1948-196_1948-110delACCCCACCCTACCTCACCCCTGCCCCCA CCCCGCCCTACCTCACCCCTGCCCCCACCCTGCCCTACCTCACCCCTGCC CCTCCCCTC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132158614	AGATGCTG others(80): Show AGATGCTGTGGGAGGAGCATCTTCCTGTGAGATGCTGTGGGAGGGGCATC TTCCTGTGTGATGCTGTGGGAGGGGCATCTTCCTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0013 a0002c0016t0013	a0002c0016t0013g0144 a0002c0016t0013g0145 a0002c0016t0013g0144 a0002c0016t0013g0145	2	156	0.0128	-87	c.222 others(106): Show c.2221-4580_2221-4494delAGCATCTTCCTGTGAGATGCTGTGGG AGGGGCATCTTCCTGTGTGATGCTGTGGGAGGGGCATCTTCCTGTGTGAT GCTGTGGGAGG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KASH5_chr19_49383249_49422990	49414674	CCCCCCAG others(80): Show CCCCCCAGGCCCGTCCGTGCTGCCTGGCCTCCCCCAGGCCCGTCCGTGCT GCCTGGCCTCCCCCAGGCCCGTCCGTGCTGCCTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02040.hp2 HG02109.hp2 others(11): Show HG01891.hp2 HG02040.hp2 HG02109.hp2 HG02257.hp1 HG02630.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0009 a0001c0001 a0001c0005 a0002c0009	a0001c0001t0003 a0001c0005t0006 a0001c0005t0008 others(2): Show a0001c0001t0003 a0001c0005t0006 a0001c0005t0008 a0001c0005t0010 a0002c0009t0011	a0001c0001t0003g0170 a0001c0005t0006g0155 a0001c0005t0006g0158 others(11): Show a0001c0001t0003g0170 a0001c0005t0006g0155 a0001c0005t0006g0158 a0001c0005t0006g0160 a0001c0005t0006g0161 a0001c0005t0006g0162 a0001c0005t0006g0164 a0001c0005t0006g0165 a0001c0005t0006g0166 a0001c0005t0008g0153 a0001c0005t0008g0157 a0001c0005t0008g0159 a0001c0005t0010g0051 a0002c0009t0011g0145	14	159	0.0881	-87	c.132 others(104): Show c.1329-189_1329-103delCCCCCAGGCCCGTCCGTGCTGCCTGGCC TCCCCCAGGCCCGTCCGTGCTGCCTGGCCTCCCCCAGGCCCGTCCGTGCT GCCTGGCCT		KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	16/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
KAZN_chr1_14593685_15123043	14793648	GCTTTCAT others(80): Show GCTTTCATTCTTCCTGCTCAGAGCTTTCCTTACGCTCTGTGACTTGAGAC AGATCAGAACAGGGCCTAGTTTGTATTTGGAAGCCAGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02922.hp1 others(1): Show HG01891.hp2 HG02622.hp1 HG02922.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0023 a0002c0002t0001	a0001c0001t0003g0138 a0001c0001t0010g0048 a0001c0001t0023g0127 others(1): Show a0001c0001t0003g0138 a0001c0001t0010g0048 a0001c0001t0023g0127 a0002c0002t0001g0128	4	146	0.0274	-87	c.227 others(108): Show c.227-166948_227-166862delCTTTCATTCTTCCTGCTCAGAGCT TTCCTTACGCTCTGTGACTTGAGACAGATCAGAACAGGGCCTAGTTTGTA TTTGGAAGCCAGT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KHDRBS2_chr6_61674961_62291225	61848490	TGTATATA others(80): Show TGTATATATATATATATATATGTATATATGTATATATATATACATATATA TGTATATATATACATATATATATGTATATATATATACA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	239	0.0042	-87	c.810 others(106): Show c.810+46058_810+46144delTGTATATATATATACATATATATATG TATATATATACATATATATGTATATATATATACATATATACATATATATA TATATATATAC		KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8						chr6	TogoVar
KHDRBS3_chr8_135452456_135652610	135535225	AATAAACT others(80): Show AATAAACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTT AAACTATATATAAACTATTATATATAGTTAAACTATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00597.hp1 others(88): Show HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18949.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19076.hp1 NA19079.hp2 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0002g0091 a0001c0001t0002g0201 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0182 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0003g0338 a0001c0001t0008g0324	91	149	0.6107	-87	c.208 others(104): Show c.208-7292_208-7206delAAACTATATATAAACTATTATATATAGT TAAACTATATATAAACTATTATATATAGTTAAACTATATATAAACTATTA TATATAGTT		KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
KIF26B_chr1_245149985_245714432	245442845	CAGCGGTC others(80): Show CAGCGGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTG TTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	115	0.0087	-87	c.116 others(108): Show c.1166+23129_1166+23215delCAGCGGTCATCTCCCTCACTGTTC ACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCT CACTGTTCACCTA		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF3C_chr2_25921598_25987497	25962785	TATAATAT others(80): Show TATAATATATATTATATAATATATAATATATATAATATATAAAATATATA AAATATATAATATATAATATAATATATAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02280.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0228 a0001c0002t0007g0229 a0001c0002t0007g0228 a0001c0002t0007g0229	2	224	0.0089	-87	c.154 others(106): Show c.1546-6428_1546-6342delTTATATATATTATATATTATATTATA TATTATATATTTTATATATTTTATATATTATATATATTATATATTATATA ATATATATTAT		KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7						chr2	TogoVar
KRTAP5-3_chr11_1602565_1613463	1607726	CTTGCAGC others(80): Show CTTGCAGCAGCTGGACTGGCAGCAGGATGACCCACAGCCTGAGGAGCAGC AGCAGGGCTTACAGCAGCTGGACTGGGAACAGCAGGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp1 HG00609.hp1 others(29): Show HG00099.hp1 HG00408.hp1 HG00609.hp1 HG00673.hp1 HG00738.hp1 HG01071.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG04184.hp1 HG04204.hp1 NA18943.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18967.hp1 NA18973.hp2 NA18980.hp1 NA18984.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19058.hp2 NA19066.hp1 NA19089.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0002g0000 a0002c0002t0003g0000	32	425	0.0753	-87	c.573 others(94): Show c.573_659delACCCTGCTGTTCCCAGTCCAGCTGCTGTAAGCCCTGCT GCTGCTCCTCAGGCTGTGGGTCATCCTGCTGCCAGTCCAGCTGCTGCAA	p.Pro others(13): Show p.Pro192_Lys220del	KRTAP5-3	ENSG00000196224.7	transcript	ENST00000399685.1	protein_coding	1/1	737/899	573/717	191/238			chr11	TogoVar
KRTAP5-8_chr11_71533025_71544209	71538425	AGCTGCTC others(80): Show AGCTGCTCTTCAGGCTGTGGGTCATCCTGCTGCCAGTCCAGCTGCTGCAA GCCCTGCTGTTCCCAGTCCAGCTGCTGTAAGCCCTGCT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG02015.hp2 HG02071.hp2 others(8): Show HG00621.hp1 HG02015.hp2 HG02071.hp2 HG02129.hp1 NA18939.hp1 NA18952.hp2 NA19054.hp1 NA19055.hp2 NA19075.hp1 NA19080.hp1 NA19088.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	11	440	0.0250	-87	c.448 others(94): Show c.448_534delAAGCCCTGCTGCTGCTCTTCAGGCTGTGGGTCATCCTG CTGCCAGTCCAGCTGCTGCAAGCCCTGCTGTTCCCAGTCCAGCTGCTGT	p.Lys others(13): Show p.Lys150_Cys178del	KRTAP5-8	ENSG00000241233.4	transcript	ENST00000398534.4	protein_coding	1/1	479/1185	448/564	150/187		INFO_REALIGN_3_PRIME	chr11	TogoVar
LARP4B_chr10_804497_936705	820000	GTGGGTAC others(80): Show GTGGGTACTGCTAACTGCCACCGTGCCATCCCTCCCATCTTCGTGGGTAC TGCTAACACTGCCACCGTACCGTCCCACCACTGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG04199.hp2 NA18522.hp2 HG02922.hp2 HG04199.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0225 a0001c0001t0018g0057 a0001c0001t0018g0058 a0001c0001t0002g0225 a0001c0001t0018g0057 a0001c0001t0018g0058	3	286	0.0105	-87	c.153 others(104): Show c.1530+713_1530+799delTGAACCAGTGGTGGGACGGTACGGTGGC AGTGTTAGCAGTACCCACGAAGATGGGAGGGATGGCACGGTGGCAGTTAG CAGTACCCA		LARP4B	ENSG00000107929.16	transcript	ENST00000316157.8	protein_coding	14/17						chr10	TogoVar
LCN15_chr9_136754634_136769518	136769237	ATGCACTG others(80): Show ATGCACTGCCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCC GCCACCCCGCCACCCCTCCATGCACTGCCCCCCGCCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	353	0.0028	-87	c.-48 others(98): Show c.-4836_-4750delGTGGCGGGGGGCAGTGCATGGAGGGGTGGCGGGG TGGCGGGGGGGCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGGGGGCAGT GCA		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4720		chr9	TogoVar
LINGO2_chr9_27932617_29218601	29189031	AGACGGGG others(80): Show AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCATCCC GGACGGGGCGGCTGGCCGACCGCCCCGCCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00642.hp2 others(10): Show HG00408.hp1 HG00597.hp1 HG00642.hp2 HG01071.hp2 HG01074.hp1 HG02109.hp1 HG02809.hp2 HG02895.hp1 HG03139.hp1 HG03486.hp2 NA18990.hp2 NA19043.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0004t0005	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0002g0052 others(10): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0002g0052 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0004g0032 a0001c0001t0010g0001 a0001c0001t0011g0002 a0001c0001t0022g0030 a0001c0001t0027g0029 a0001c0001t0029g0023 a0001c0001t0031g0020 a0001c0004t0005g0054	13	62	0.2097	-87	c.-49 others(108): Show c.-492+23804_-492+23890delCGGGAGGGAGGCGGGGCGGTCGGC CAGCCGCCCCGTCCGGGATGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTC		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6						chr9	TogoVar
LOC128462377_chr16_89312046_89423292	89341879	CGGCAGGA others(80): Show CGGCAGGAGTGCTGCACCTCCACCCACAGCGGCCACGGCCCACGGCGGGA GTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCAT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	366	0.0027	-87	c.10- others(104): Show c.10-24891_10-24805delATGGGCCGTGGCTGCTGTTCGTGGAGGA GGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGTGGAGGTGCAGC ACTCCTGCC		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LY6E_chr8_143013529_143027409	143014573	CGTGTGAG others(80): Show CGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTCCCGTGT GAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01928.hp1 HG02055.hp1 others(3): Show HG01516.hp1 HG01928.hp1 HG02055.hp1 HG02132.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0008g0038 a0001c0002t0001g0003	6	321	0.0187	-87	c.-40 others(98): Show c.-4070_-3984delGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAG GAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGT GCT		LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding					3955		chr8	TogoVar
LY6E_chr8_143013529_143027409	143015633	GGAGGAGG others(80): Show GGAGGAGGAGGGAGTCCTGTGTGAGGAGGAAGGAGTCCCATGTGAGGAGG AGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	-87	c.-30 others(98): Show c.-3010_-2924delGAGGAGGAGGGAGTCCTGTGTGAGGAGGAAGGAG TCCCATGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCTG TGT		LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding					2895		chr8	TogoVar
LY6E_chr8_143013529_143027409	143015716	TGTGTGAG others(80): Show TGTGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGAAGGAGTCCCATGTGAG GAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03831.hp2 HG03017.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0002t0001g0003 a0001c0001t0001g0002 a0001c0002t0001g0003	2	356	0.0056	-87	c.-29 others(98): Show c.-2927_-2841delGTGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGAA GGAGTCCCATGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGT GCC		LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding					2812		chr8	TogoVar
LY75_chr2_159798355_159909756	159873743	CATTTTGT others(80): Show CATTTTGTAAAAATATACATAAATATATACATTTTGTAAAAATATACATA AATATATACATATAGTAAAAATACATATAAACGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(72): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp2 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02970.hp1 HG03239.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18985.hp2 NA18987.hp2 NA18998.hp1 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp2	a0003 a0006 a0012 others(8): Show a0003 a0006 a0012 a0020 a0021 a0022 a0028 a0031 a0038 a0042 a0046	a0003c0001 a0006c0004 a0006c0063 others(9): Show a0003c0001 a0006c0004 a0006c0063 a0012c0016 a0020c0030 a0021c0031 a0022c0029 a0028c0061 a0031c0062 a0038c0046 a0042c0039 a0046c0064	a0003c0001t0001 a0003c0001t0002 a0003c0001t0003 others(16): Show a0003c0001t0001 a0003c0001t0002 a0003c0001t0003 a0003c0001t0004 a0003c0001t0005 a0006c0004t0001 a0006c0004t0002 a0006c0004t0012 a0006c0063t0001 a0012c0016t0001 a0012c0016t0002 a0020c0030t0002 a0021c0031t0001 a0022c0029t0001 a0028c0061t0002 a0031c0062t0002 a0038c0046t0001 a0042c0039t0001 a0046c0064t0002	a0003c0001t0001g0007 a0003c0001t0001g0174 a0003c0001t0001g0184 others(67): Show a0003c0001t0001g0007 a0003c0001t0001g0174 a0003c0001t0001g0184 a0003c0001t0001g0202 a0003c0001t0002g0194 a0003c0001t0002g0205 a0003c0001t0003g0171 a0003c0001t0004g0001 a0003c0001t0004g0006 a0003c0001t0004g0159 a0003c0001t0004g0165 a0003c0001t0004g0167 a0003c0001t0004g0168 a0003c0001t0004g0170 a0003c0001t0004g0172 a0003c0001t0004g0173 a0003c0001t0004g0175 a0003c0001t0004g0176 a0003c0001t0004g0177 a0003c0001t0004g0178 a0003c0001t0004g0179 a0003c0001t0004g0180 a0003c0001t0004g0181 a0003c0001t0004g0183 a0003c0001t0004g0185 a0003c0001t0004g0204 a0003c0001t0004g0206 a0003c0001t0004g0207 a0003c0001t0004g0208 a0003c0001t0004g0209 a0003c0001t0004g0211 a0003c0001t0004g0212 a0003c0001t0005g0160 a0003c0001t0005g0162 a0006c0004t0001g0158 a0006c0004t0001g0164 a0006c0004t0001g0169 a0006c0004t0001g0186 a0006c0004t0001g0187 a0006c0004t0001g0188 a0006c0004t0001g0190 a0006c0004t0001g0191 a0006c0004t0001g0192 a0006c0004t0001g0195 a0006c0004t0001g0198 a0006c0004t0001g0199 a0006c0004t0001g0200 a0006c0004t0001g0201 a0006c0004t0001g0210 a0006c0004t0001g0213 a0006c0004t0001g0312 a0006c0004t0002g0189 a0006c0004t0012g0166 a0006c0063t0001g0197 a0012c0016t0001g0193 a0012c0016t0001g0310 a0012c0016t0001g0313 a0012c0016t0001g0315 a0012c0016t0002g0309 a0020c0030t0002g0163 a0020c0030t0002g0196 a0021c0031t0001g0047 a0021c0031t0001g0128 a0022c0029t0001g0203 a0022c0029t0001g0318 a0028c0061t0002g0182 a0031c0062t0002g0311 a0038c0046t0001g0222 a0042c0039t0001g0009 a0046c0064t0002g0046	75	328	0.2287	-87	c.197 others(106): Show c.1975-1237_1975-1151delATATACGTTTATATGTATTTTTACTA TATGTATATATTTATGTATATTTTTACAAAATGTATATATTTATGTATAT TTTTACAAAAT		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34						chr2	TogoVar
MACROD2_chr20_13990516_16058197	16035077	TAATATGT others(80): Show TAATATGTAATATAAAATATTATATATTATATATAAAATATAATATAAAA TATTATATATTATATATTATATATAAAATATAATATAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18970.hp1 HG02559.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0021 a0001c0001t0003g0002 a0001c0001t0001g0021 a0001c0001t0003g0002	2	24	0.0833	-87	c.115 others(106): Show c.1154-6118_1154-6032delGTAATATAAAATATTATATATTATAT ATAAAATATAATATAAAATATTATATATTATATATTATATATAAAATATA ATATAAAATAT		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1931103	ATGGGGTC others(80): Show ATGGGGTCCATGTCAAGGGTCTGCTGATGCTGTGGGAACACCCCCAACTC CTCACCCCACGCACGGTCACAGGAGCGAGGGCGCGTCG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp1 HG02735.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	262	0.0076	-87	c.180 others(106): Show c.1807+5497_1807+5583delCGACGCGCCCTCGCTCCTGTGACCGT GCGTGGGGTGAGGAGTTGGGGGTGTTCCCACAGCATCAGCAGACCCTTGA CATGGACCCCA		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1931113	TGTCAAGG others(80): Show TGTCAAGGGTCTGCTGATGCTGTGGGAACACCCCCAACTCCTCACCCCAC GCACGGTCACAGGAGCGAGGGCGCGTCGTGGGGTCCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00558.hp2 others(48): Show HG00280.hp1 HG00438.hp2 HG00558.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01255.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02040.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp1 HG03225.hp1 HG03516.hp1 HG04199.hp1 HG04228.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18954.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18985.hp2 NA18990.hp1 NA18999.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp2 NA19081.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0007t0004 a0002c0002t0001 a0004c0008t0001	a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0110 others(48): Show a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0248 a0001c0001t0002g0055 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0003t0001g0016 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0075 a0001c0003t0001g0089 a0001c0003t0002g0083 a0001c0006t0001g0218 a0001c0007t0004g0078 a0001c0007t0004g0079 a0001c0007t0004g0080 a0002c0002t0001g0037 a0004c0008t0001g0194	51	262	0.1947	-87	c.180 others(106): Show c.1807+5487_1807+5573delGTGGACCCCACGACGCGCCCTCGCTC CTGTGACCGTGCGTGGGGTGAGGAGTTGGGGGTGTTCCCACAGCATCAGC AGACCCTTGAC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2058320	AGAGGCGC others(80): Show AGAGGCGCGGGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGGCGCG GGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18952.hp1 HG01981.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0056 a0002c0002t0001g0021 a0002c0002t0001g0056	2	241	0.0083	-87	c.121 others(108): Show c.1218+10787_1218+10873delCCCTCTCCTCTCCTCTGGCCACAC TCCCTCTCCAGCCCCGCGCCTCTCCTCTCCTCTGGCCACACTCCCTCTCC AGCCCCGCGCCTC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18						chr7	TogoVar
MAFK_chr7_1525702_1548043	1526193	AGGAGTGA others(80): Show AGGAGTGAGAGGAGAAGGAGAAGAGGGGAGGGGAGGAGGAGAAGAAGAAG AAGAAGGGGGGGGAAAGGAGGAGAAGGAGAGGGAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	378	0.0026	-87	c.-47 others(98): Show c.-4749_-4663delGGAGTGAGAGGAGAAGGAGAAGAGGGGAGGGGAG GAGGAGAAGAAGAAGAAGAAGGGGGGGGAAAGGAGGAGAAGGAGAGGGAG GAG		MAFK	ENSG00000198517.10	transcript	ENST00000343242.9	protein_coding					4508		chr7	TogoVar
MAGI1_chr3_65348526_66043918	65934570	ATGGTGCA others(80): Show ATGGTGCAGTACATTTAAGAAAAAGGCTCCCAACCTAATTATAAAACCGA GTCCCTCTTATATTGGGCCATTTAATGGTGCCAGATTG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02572.hp1 HG02572.hp2 others(4): Show HG01952.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG03041.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0005t0001 a0002c0002t0002 a0004c0004t0012	a0001c0001t0001g0055 a0001c0001t0004g0001 a0001c0001t0008g0010 others(4): Show a0001c0001t0001g0055 a0001c0001t0004g0001 a0001c0001t0008g0010 a0001c0001t0009g0007 a0001c0005t0001g0004 a0002c0002t0002g0068 a0004c0004t0012g0103	7	104	0.0673	-87	c.313 others(108): Show c.313+103339_313+103425delCAATCTGGCACCATTAAATGGCCC AATATAAGAGGGACTCGGTTTTATAATTAGGTTGGGAGCCTTTTTCTTAA ATGTACTGCACCA		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22						chr3	TogoVar
MAPK6_chr15_52014219_52072375	52066553	ACCATCCT others(80): Show ACCATCCTCTTCACCTCACTTTTCTTTCATCCTTGTTTTGTACAACACCA ATTCTATTAATATCTGCCCACCTACCTTCTCAACAACT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0156 a0001c0001t0043g0156	1	354	0.0028	-87	c.16 others(98): Show c.1641_*1727delCCATCCTCTTCACCTCACTTTTCTTTCATCCTTG TTTTGTACAACACCAATTCTATTAATATCTGCCCACCTACCTTCTCAACA ACT		MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding	6/6				1641	INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPK8IP3_chr16_1701195_1775351	1761537	AGGGCGGC others(80): Show AGGGCGGCCGCCATTCACCATTCACACACAGGGCGACCACCATTCACCAT TCACAGGCAGAGCGGCCACCATTCACCATTCACAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp2 HG02559.hp2 HG00733.hp2 HG01175.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0015 a0001c0004t0004g0173 a0001c0004t0004g0015 a0001c0004t0004g0173	3	326	0.0092	-87	c.153 others(104): Show c.1539+241_1539+327delGCCATTCACCATTCACACACAGGGCGAC CACCATTCACCATTCACAGGCAGAGCGGCCACCATTCACCATTCACAGGC GGGGCGGCC		MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	13/31					INFO_REALIGN_3_PRIME	chr16	TogoVar
ME1_chr6_83205402_83436051	83243549	TATTATAT others(80): Show TATTATATCGATATAATCTATTATAATTACATTATATCGATATAATCTAT TATAATTACATTATATCGATATAATCTATTATAATTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01123.hp1 others(9): Show HG00099.hp2 HG00642.hp1 HG01123.hp1 HG01256.hp1 HG01258.hp2 HG02293.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04204.hp1 NA18967.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0052 others(9): Show a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0120 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203	12	236	0.0508	-87	c.815 others(104): Show c.815-4000_815-3914delGTAATTATAATAGATTATATCGATATAA TGTAATTATAATAGATTATATCGATATAATGTAATTATAATAGATTATAT CGATATAAT		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	7/13						chr6	TogoVar
MED16_chr19_862963_898187	873052	GGTGGGGC others(80): Show GGTGGGGCAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCT CCGAGGTGGGGCAGGGCTCCGAGATGGGGCAGGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0030 a0001c0015t0001g0030	1	53	0.0189	-87	c.190 others(104): Show c.1905+310_1905+396delGGAGCCCTGCCCCATCTCGGAGCCCTGC CCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTCCCCCACCTCGGAGCC CTGCCCCAC		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MEP1A_chr6_46788389_46844778	46824787	GTATTTAA others(80): Show GTATTTAAATATATATAAATGATGTATTTAATTAGATGTATTTAAATATA TATAAATTATATATATAAATTATATATTTAAATAGATC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0166 a0002c0002t0002g0166	1	233	0.0043	-87	c.557 others(102): Show c.557-465_557-379delGATGTATTTAATTAGATGTATTTAAATATA TATAAATTATATATATAAATTATATATTTAAATAGATCTATTTAAATATA TATAAAT		MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
MGAM_chr7_141990879_142111747	142042207	CATATTAT others(80): Show CATATTATATATACATATAATATATAACATATATTATATATACATATAAT ATATAACATATATTATATATACATATAATATATAACAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	250	0.0080	-87	c.249 others(106): Show c.2498+1510_2498+1596delTTATATATACATATAATATATAACAT ATATTATATATACATATAATATATAACATATATTATATATACATATAATA TATAACATATA		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT1_chr5_180779780_180807806	180788634	CAAGTAAG others(80): Show CAAGTAAGTTGGTACTTATCCTGGAGCACTAAGTAAGTTGGTACTTATCC TGGAGCACTAAGTAAGTTGGTACTTATCCTGGAGCACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02970.hp1 NA20129.hp2 HG02965.hp1 HG02970.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0130 a0001c0001t0043 a0001c0001t0130	a0001c0001t0043g0052 a0001c0001t0130g0105 a0001c0001t0043g0052 a0001c0001t0130g0105	3	353	0.0085	-87	c.29 others(98): Show c.2913_*2999delAGTGCTCCAGGATAAGTACCAACTTACTTAGTGC TCCAGGATAAGTACCAACTTACTTAGTGCTCCAGGATAAGTACCAACTTA CTT		MGAT1	ENSG00000131446.17	transcript	ENST00000307826.5	protein_coding	2/2				2913		chr5	TogoVar
MIOX_chr22_50481859_50495648	50488466	GACGGCTG others(80): Show GACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATACTAC CTGGGGGACAGGCCAGTGCACCCCCCACGGCCCCCCCC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG01517.hp2 others(3): Show HG01433.hp1 HG01515.hp1 HG01517.hp2 HG02080.hp1 HG03831.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0003t0004 a0001c0001t0003 a0001c0001t0004 a0001c0003t0004	a0001c0001t0003g0022 a0001c0001t0003g0050 a0001c0001t0004g0012 others(1): Show a0001c0001t0003g0022 a0001c0001t0003g0050 a0001c0001t0004g0012 a0001c0003t0004g0022	6	429	0.0140	-87	c.408 others(102): Show c.408+206_408+292delCCCCCCACGGCTGCCTGTCCCTCTGGTGGC CTCGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCC CACGGCC		MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
MLPH_chr2_237482251_237560322	237543161	TGGGGGAC others(80): Show TGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTG AGTTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	253	0.0040	-87	c.153 others(104): Show c.1539+518_1539+604delGTGGGGGACAGTGGTGAGTGGGGGCACA GTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTAGGGGGA CAGTGGTGA		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543231	TGGGCACA others(80): Show TGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGA ATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	257	0.0039	-87	c.153 others(104): Show c.1539+582_1539+668delAGTGAGTAGGGGGACAGTGGTGAATGGG GGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGG GGGCACAGT		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545060	GGGGCACT others(80): Show GGGGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTG AGGGGGGACCAGTGTTGAGTGGGGGAATAGTTATGAGT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0092 a0008c0011t0001g0092	1	264	0.0038	-87	c.154 others(106): Show c.1540-1542_1540-1456delCACTATTGGTAGGGGGGACAATTATT GGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAG TTATGAGTGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPP2_chr17_43870360_43912536	43910683	TACTTGGG others(80): Show TACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCCGGGAGGCAGAGGT TGCAGTGAGCCATGATTGCGCCACTGCACTCCAGCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	284	0.0035	-87	c.-33 others(98): Show c.-3330_-3244delCAGGCTGGAGTGCAGTGGCGCAATCATGGCTCAC TGCAACCTCTGCCTCCCGGCTTCAAGCGATTCTCCTGCCTCAGCCTCCCA AGT		MPP2	ENSG00000108852.16	transcript	ENST00000269095.9	protein_coding					3148		chr17	TogoVar
MPPED1_chr22_43407014_43512848	43496471	GGTGGTGG others(80): Show GGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGG TGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGATA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0250 a0001c0002t0003g0250	1	218	0.0046	-87	c.633 others(104): Show c.633-1738_633-1652delAGGTAGTGGTGGTGGAGATGGTGGTGGA GATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGATGG TGGTGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500029	TGGTGAGG others(80): Show TGGTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GTGGTGATGGCGATGGAGGTGGTAGTGGGGGTGATGAA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0180 a0001c0001t0008g0180	1	245	0.0041	-87	c.748 others(104): Show c.748+1684_748+1770delAGGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGGGGTG ATGAAGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MSRB2_chr10_23090579_23127013	23121042	TGTTCTTG others(80): Show TGTTCTTGTGTTGCTATAAAGAAGTACCTGATCAGGATCTGGGAGAATTT GAAAAAAAAAGAAAAACTAGAAAAATAAACAAAATTAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0057 a0001c0001t0010g0057	1	440	0.0023	-87	c.18 others(96): Show c.181_*267delGTTCTTGTGTTGCTATAAAGAAGTACCTGATCAGGA TCTGGGAGAATTTGAAAAAAAAAGAAAAACTAGAAAAATAAACAAAATTA A		MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	5/5				181		chr10	TogoVar
MTUS2_chr13_28815339_29510947	29375340	CAAACCCG others(80): Show CAAACCCGCAATTACTTACTTTTAATGGCAAAAACCGCAATTACTTACTT TTAATGGCAAAAACCGCAATTACTTACTTTTAATGGCA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG03540.hp2 HG02145.hp2 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020	a0001c0001t0009g0088 a0001c0001t0010g0010 a0001c0001t0020g0016 a0001c0001t0009g0088 a0001c0001t0010g0010 a0001c0001t0020g0016	3	90	0.0333	-87	c.311 others(108): Show c.3117+15871_3117+15957delCCCGCAATTACTTACTTTTAATGG CAAAAACCGCAATTACTTACTTTTAATGGCAAAAACCGCAATTACTTACT TTTAATGGCAAAA		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29375371	AAACCGCA others(80): Show AAACCGCAATTACTTACTTTTAATGGCAAAAACCGCAATTACTTACTTTT AATGGCAAAAACCGCAATTACTTACTTTTAATGGCAAC	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	88	0.0114	-87	c.311 others(108): Show c.3117+15937_3117+16023delTACTTACTTTTAATGGCAAAAACC GCAATTACTTACTTTTAATGGCAACAACCGCAATTACTTACTTTTAATGG CAAAAACCGCAAT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC5B_chr11_1218066_1267172	1250099	CCCACGGC others(80): Show CCCACGGCCACCCCGTCCTCCACCCCAGGGACCACCTGGATCCTCACAGA GCTGACCACAACAGCCACTACGACTGCGTCCACTGGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0104 a0104	a0104c0112 a0104c0112	a0104c0112t0003 a0104c0112t0003	a0104c0112t0003g0172 a0104c0112t0003g0172	1	348	0.0029	-87	c.132 others(98): Show c.13271_13357delTGACCACAACAGCCACTACGACTGCGTCCACTGG ATCCACGGCCACCCCGTCCTCCACCCCAGGGACCACCTGGATCCTCACAG AGC	p.Leu others(15): Show p.Leu4424_Glu4452del	MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	31/49	13329/17911	13271/17289	4424/5762		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYDGF_chr19_4652545_4675342	4663266	CAGCCTCC others(80): Show CAGCCTCCAATCTGTGCCCTCTCCACCCATCCCATCCTCATTCTACACAG CCTCCAATCTACGCTCCCATCCACCCCATCCTCATTCT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	408	0.0025	-87	c.287 others(104): Show c.287+1523_287+1609delAGAATGAGGATGGGGTGGATGGGAGCGT AGATTGGAGGCTGTGTAGAATGAGGATGGGATGGGTGGAGAGGGCACAGA TTGGAGGCT		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5						chr19	TogoVar
MYT1_chr20_64159452_64247253	64220791	TAGGCCCC others(80): Show TAGGCCCCTATGAAGGGTGGGGGCTGGATCAGGCCCCTATGAAGGGTAGG GGCTGGATCAGGCCCCTATGAAGGGTGGGGGCTGGATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01109.hp1 others(15): Show HG00099.hp1 HG00639.hp2 HG01109.hp1 HG01516.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02630.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp1 HG04184.hp2 HG04199.hp2 NA18999.hp1 NA19043.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0018	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0003t0007 a0001c0003t0019 a0001c0013t0005 a0001c0018t0006	a0001c0001t0001g0059 a0001c0001t0001g0173 a0001c0001t0003g0053 others(15): Show a0001c0001t0001g0059 a0001c0001t0001g0173 a0001c0001t0003g0053 a0001c0002t0002g0200 a0001c0002t0005g0105 a0001c0002t0005g0116 a0001c0002t0006g0021 a0001c0002t0006g0022 a0001c0002t0006g0117 a0001c0002t0006g0127 a0001c0002t0006g0136 a0001c0002t0006g0145 a0001c0003t0007g0166 a0001c0003t0007g0184 a0001c0003t0007g0213 a0001c0003t0019g0178 a0001c0013t0005g0125 a0001c0018t0006g0106	18	221	0.0814	-87	c.224 others(104): Show c.2241+856_2241+942delAGGGGCTGGATCAGGCCCCTATGAAGGG TGGGGGCTGGATCAGGCCCCTATGAAGGGTGGGGGCTGGATCAGGCCCCT ATGAAGGGT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	13/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57688196	ATACACAT others(80): Show ATACACATATATATGTGTGTACAATATACACATATATATGTGTGTACAAT ATACACATATATTATGTGTGTACAATATACACATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 NA19079.hp1 HG02280.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0187 a0001c0003t0004g0109 a0001c0001t0001g0187 a0001c0003t0004g0109	2	348	0.0057	-87	c.36 others(98): Show c.3699_*3785delTACACATATATATGTGTGTACAATATACACATAT ATATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACATA TAT		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2833		chr15	TogoVar
NCAPG2_chr7_158626169_158709804	158667723	CCTTACCT others(80): Show CCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03225.hp2 HG02630.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0227 a0001c0005t0001g0229 a0001c0005t0001g0227 a0001c0005t0001g0229	2	375	0.0053	-87	c.148 others(106): Show c.1480-3060_1480-2974delAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGCCACA GGGTAGGTAAG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NEU4_chr2_241804193_241822413	241807853	TCCCCCCT others(80): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG00738.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0185 a0001c0002t0001g0077 a0001c0002t0001g0185	2	300	0.0067	-87	c.-14 others(98): Show c.-1424_-1338delCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT TCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CTC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1339		chr2	TogoVar

Search by Variant

Search

Search Results