Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KIF26B_chr1_245149985_245714432	245252613	CATGTCTG others(34): Show CATGTCTGCAATTATGACTCTTTTGTCATAATTGCAGATAAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0089 a0002c0008t0004g0089	1	160	0.0063	-41	c.465 others(60): Show c.465+95978_465+96018delGCAATTATGACTCTTTTGTCATAATT GCAGATAATATGTCT		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245577652	AGGCGATG others(34): Show AGGCGATGCATCTCCTCACCGGAAGAGCTTTGTGGAACTCCG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02056.hp1 HG02109.hp1 others(2): Show HG00609.hp2 HG02056.hp1 HG02109.hp1 HG02922.hp1 NA19030.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0016c0049	a0001c0001t0064 a0001c0002t0053 a0001c0009t0012 others(2): Show a0001c0001t0064 a0001c0002t0053 a0001c0009t0012 a0001c0014t0001 a0016c0049t0006	a0001c0001t0064g0042 a0001c0002t0053g0121 a0001c0009t0012g0108 others(2): Show a0001c0001t0064g0042 a0001c0002t0053g0121 a0001c0009t0012g0108 a0001c0014t0001g0055 a0016c0049t0006g0036	5	160	0.0313	-41	c.135 others(62): Show c.1351-24848_1351-24808delACTCCGGGCGATGCATCTCCTCAC CGGAAGAGCTTTGTGGA		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738745	CGTCTGGG others(34): Show CGTCTGGGAGGTGGGGGGCAGCCCCCTCCCAGCCGCCGCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp2 NA18747.hp2 others(15): Show HG00280.hp1 HG00544.hp2 NA18747.hp2 NA18949.hp2 NA18979.hp2 NA18986.hp1 NA18990.hp2 NA19010.hp1 NA19055.hp2 NA19057.hp2 NA19063.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0066 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0066 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0241 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308	18	374	0.0481	-41	c.-11 others(52): Show c.-1187_-1147delGTCTGGGAGGTGGGGGGCAGCCCCCTCCCAGCCG CCGCCCT		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1091		chr1	TogoVar
KIRREL3_chr11_126418358_127005770	126768129	CATCTATC others(34): Show CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG06807.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0012 a0001c0002t0008 a0001c0002t0012	a0001c0002t0008g0057 a0001c0002t0012g0023 a0001c0002t0008g0057 a0001c0002t0012g0023	2	114	0.0175	-41	c.56- others(60): Show c.56-205258_56-205218delTGGATGGATGGATGGATGGATGGATG GATGGATGGATAGAT		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
KLC4_chr6_43054631_43080093	43079410	TGATCGTG others(34): Show TGATCGTGCCACTGCACTCCAGCTTGGGCGAGATCGTGCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00597.hp2 others(73): Show HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02148.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18948.hp1 NA18949.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18978.hp2 NA18980.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19011.hp1 NA19062.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0128 a0003c0007t0001g0118	76	342	0.2222	-41	c.47 others(52): Show c.4739_*4779delGATCGTGCCACTGCACTCCAGCTTGGGCGAGATC GTGCCGA		KLC4	ENSG00000137171.15	transcript	ENST00000347162.10	protein_coding					4318		chr6	TogoVar
KLHL15_chrX_23978720_24032186	23979563	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0125 a0001c0001t0022g0125	1	286	0.0035	-41	c.83 others(52): Show c.8317_*8357delATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4156		chrX	TogoVar
KLK7_chr19_50971468_50988917	50975200	TAGTCTAG others(34): Show TAGTCTAGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00597.hp1 others(67): Show HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp1 HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18955.hp1 NA18956.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp1 NA18973.hp2 NA18983.hp1 NA18989.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19082.hp2 NA19088.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0002t0003 a0001c0005t0002 a0001c0006t0002 a0001c0010t0002	a0001c0001t0001g0008 a0001c0001t0001g0070 a0001c0001t0001g0071 others(38): Show a0001c0001t0001g0008 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0005g0036 a0001c0001t0005g0063 a0001c0001t0005g0091 a0001c0001t0005g0110 a0001c0001t0005g0121 a0001c0001t0014g0097 a0001c0002t0003g0172 a0001c0005t0002g0046 a0001c0006t0002g0021 a0001c0010t0002g0145	70	384	0.1823	-41	c.22 others(52): Show c.2295_*2335delCCCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CTAGACT		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding					1267		chr19	TogoVar
KLK7_chr19_50971468_50988917	50975206	AGACTCCT others(34): Show AGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGGAGTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(187): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0002c0008 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0004t0003 a0001c0004t0006 a0001c0004t0015 a0001c0005t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001 a0002c0008t0003 a0003c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0004g0139 a0001c0001t0006g0074 a0001c0001t0008g0050 a0001c0001t0008g0082 a0001c0001t0012g0061 a0001c0001t0013g0123 a0001c0001t0017g0170 a0001c0002t0001g0090 a0001c0002t0001g0099 a0001c0002t0001g0129 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0022 a0001c0002t0003g0034 a0001c0002t0003g0043 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0006g0042 a0001c0002t0006g0135 a0001c0002t0006g0152 a0001c0002t0006g0158 a0001c0004t0003g0015 a0001c0004t0006g0045 a0001c0004t0015g0049 a0001c0005t0001g0048 a0001c0005t0001g0068 a0001c0007t0001g0130 a0001c0012t0001g0087 a0001c0013t0001g0092 a0002c0008t0003g0113 a0003c0009t0001g0144	190	384	0.4948	-41	c.22 others(52): Show c.2289_*2329delCAGACTCCCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTC		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding					1261		chr19	TogoVar
KLRB1_chr12_9589551_9612916	9606650	ATATATAT others(34): Show ATATATATATATATAAAATATATAAAATATATGTATAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG01952.hp2 others(23): Show HG00738.hp1 HG01884.hp1 HG01952.hp2 HG01993.hp1 HG02145.hp2 HG02258.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0005c0006t0004	a0001c0001t0002g0224 a0001c0001t0003g0187 a0001c0001t0003g0201 others(20): Show a0001c0001t0002g0224 a0001c0001t0003g0187 a0001c0001t0003g0201 a0001c0001t0003g0226 a0001c0001t0005g0028 a0001c0001t0005g0038 a0001c0001t0005g0044 a0001c0001t0005g0189 a0001c0001t0005g0200 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0307 a0002c0002t0001g0202 a0002c0002t0001g0318 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0005c0006t0004g0242	26	436	0.0596	-41	c.85+ others(56): Show c.85+1064_85+1104delCTTTTTATACATATATTTTATATATTTTAT ATATATATATA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KLRB1_chr12_9589551_9612916	9606665	AAATATAT others(34): Show AAATATATAAAATATATGTATAAAAAGTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0357 a0001c0001t0003g0357	1	436	0.0023	-41	c.85+ others(56): Show c.85+1049_85+1089delATATATATATATATACTTTTTATACATATA TTTTATATATT		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KNDC1_chr10_133155219_133231412	133221957	GGGCCGGG others(34): Show GGGCCGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGT	G G	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	332	0.0030	-41	c.501 others(60): Show c.5018+1848_5018+1888delCCGGGCTGGGTGCAGCCACTCACGCC TGTAACCCTAGGTGG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KPNA3_chr13_49694320_49797682	49780461	ACCCATCT others(34): Show ACCCATCTGAGACCTTGAGGGTTTTCTGTTACTCCCAAACTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	376	0.0027	-41	c.69+ others(58): Show c.69+11936_69+11976delGAGTTTGGGAGTAACAGAAAACCCTCAA GGTCTCAGATGGG		KPNA3	ENSG00000102753.10	transcript	ENST00000261667.8	protein_coding	1/16						chr13	TogoVar
KRT2_chr12_52639558_52657211	52647826	TCTCCCGA others(34): Show TCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19063.hp1 NA19063.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0071 a0010c0018t0001g0071	1	466	0.0022	-41	c.112 others(53): Show c.1123-12_1151delTCCCCATATCAGTATGAGGAGCTCCAGGTGACT GTCGGGAG	p.Tyr others(5): Show p.Tyr375fs	KRT2	ENSG00000172867.4	transcript	ENST00000309680.4	protein_coding	6/9	1220/2450	1123/1920	375/639			chr12	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035704	TTTCTTTC others(34): Show TTTCTTTCTTTCTTTCCTTCTTTCTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01255.hp2 HG01256.hp2 others(14): Show HG01099.hp2 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG02074.hp2 NA18941.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18972.hp1 NA18999.hp1 NA19003.hp2 NA19067.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	17	403	0.0422	-41	c.51 others(52): Show c.5119_*5159delGAAAGAAAGAAAGAAAGAGAAAGAAGGAAAGAAA GAAAGAA		KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding					4836		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035704	TTTCTTTC others(34): Show TTTCTTTCTTTCTTTCCTTCTTTCTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01255.hp2 HG01256.hp2 others(15): Show HG01099.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG02074.hp2 NA18941.hp2 NA18955.hp2 NA18962.hp2 NA18972.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19067.hp2 NA20300.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0003c0003t0001 a0005c0005t0001	a0003c0003t0001g0000 a0005c0005t0001g0000 a0003c0003t0001g0000 a0005c0005t0001g0000	18	435	0.0414	-41	c.-92 others(50): Show c.-924_-884delGAAAGAAAGAAAGAAAGAGAAAGAAGGAAAGAAAGA AAGAA		KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding					831		chr17	TogoVar
KRTAP10-12_chr21_44692172_44703044	44697007	TCCCATCC others(34): Show TCCCATCCAGCACCCAGACGCTCACTCACTCCCTCCCTCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp1 others(90): Show HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02683.hp1 HG02735.hp2 HG02895.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18941.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19011.hp2 NA19055.hp2 NA19063.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0002c0003t0001 a0003c0002t0001	a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0007t0001g0000 others(3): Show a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0007t0001g0000 a0001c0009t0001g0000 a0002c0003t0001g0000 a0003c0002t0001g0000	93	446	0.2085	-41	c.-19 others(50): Show c.-194_-154delCCCATCCAGCACCCAGACGCTCACTCACTCCCTCCC TCCTG		KRTAP10-12	ENSG00000189169.8	transcript	ENST00000400365.3	protein_coding					164		chr21	TogoVar
LATS2_chr13_20968036_21066586	20969696	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0002 a0003c0023t0002	a0003c0023t0002g0006 a0003c0023t0002g0006	1	316	0.0032	-41	c.51 others(52): Show c.5133_*5173delATATATATATATATATATATATATATATATATAT ATATATT		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding					3339		chr13	TogoVar
LBP_chr20_38341482_38382013	38378095	CTCTCCCT others(34): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCACGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0091 a0001c0014t0003g0091	1	394	0.0025	-41	c.14 others(52): Show c.1427_*1467delTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCCACGG		LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding					1083		chr20	TogoVar
LCN15_chr9_136754634_136769518	136769444	CCCCGCCA others(34): Show CCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCCGACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	356	0.0028	-41	c.-49 others(52): Show c.-4997_-4957delTGTCGGGGTGTCGGGGGGGGCAGTGCATGGGGGG TGGCGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4927		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769477	ACCCCGAC others(34): Show ACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	-41	c.-50 others(52): Show c.-5030_-4990delTGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGT GTCGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4960		chr9	TogoVar
LCOR_chr10_96827298_97000956	96940965	GCGGCCGG others(34): Show GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	288	0.0035	-41	c.-18 others(60): Show c.-183-3138_-183-3098delAGAGGCGCCCCTCACCTCCCGGATGG GGCGGCCGGCCGGGC		LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPG_chr18_49557057_49604185	49579007	AGGGAGAG others(34): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0021 a0001c0001t0032g0021	1	384	0.0026	-41	c.794 others(58): Show c.794-2407_794-2367delGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAG		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9						chr18	TogoVar
LIPT1_chr2_99149967_99168137	99161272	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	406	0.0025	-41	c.-1- others(54): Show c.-1-683_-1-643delAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATA		LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
LMAN2_chr5_177326567_177356668	177326870	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	376	0.0027	-41	c.51 others(52): Show c.5175_*5215delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding					4696		chr5	TogoVar
LMAN2_chr5_177326567_177356668	177344813	GGAAAATC others(34): Show GGAAAATCACTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0041 a0005c0003t0001g0041	1	376	0.0027	-41	c.316 others(58): Show c.316-6249_316-6209delGGCTCACCACAACCTCTGCCTCCCGGGT TCAAGTGATTTTC		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	2/7						chr5	TogoVar
LMF1_chr16_848634_975984	882847	GCCCAGCG others(34): Show GCCCAGCGGAGCCCATCGCAGGACCAGGAGAAAGAGGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp2 HG02886.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0004 a0001c0004t0001 a0001c0004t0004	a0001c0004t0001g0054 a0001c0004t0004g0030 a0001c0004t0001g0054 a0001c0004t0004g0030	2	294	0.0068	-41	c.730 others(58): Show c.730-3151_730-3111delTGGCTCCTCTTTCTCCTGGTCCTGCGAT GGGCTCCGCTGGG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10						chr16	TogoVar
LMF1_chr16_848634_975984	883126	GCAGGACC others(34): Show GCAGGACCAGGAGAAAGAGGAGCTGCTCAGCAGAGCCCATCA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 HG03516.hp1 others(2): Show HG02976.hp1 HG03209.hp1 HG03516.hp1 HG03579.hp1 NA19043.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0003 a0001c0060 others(1): Show a0001c0002 a0001c0003 a0001c0060 a0009c0024	a0001c0002t0006 a0001c0003t0001 a0001c0060t0002 others(1): Show a0001c0002t0006 a0001c0003t0001 a0001c0060t0002 a0009c0024t0001	a0001c0002t0006g0050 a0001c0003t0001g0124 a0001c0060t0002g0128 others(2): Show a0001c0002t0006g0050 a0001c0003t0001g0124 a0001c0060t0002g0128 a0009c0024t0001g0117 a0009c0024t0001g0118	5	294	0.0170	-41	c.730 others(58): Show c.730-3430_730-3390delTGATGGGCTCTGCTGAGCAGCTCCTCTT TCTCCTGGTCCTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10						chr16	TogoVar
LMF1_chr16_848634_975984	911579	GGGGGGCA others(34): Show GGGGGGCAGCACTGGGGGGGCAGCACTGGGGGGGCAGCACTT	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0130 a0001c0005t0001g0130	1	294	0.0034	-41	c.515 others(56): Show c.515-541_515-501delAAGTGCTGCCCCCCCAGTGCTGCCCCCCCA GTGCTGCCCCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10						chr16	TogoVar
LMF1_chr16_848634_975984	936216	TACCCCGT others(34): Show TACCCCGTGGGCTGAGGAAGGAGGCTGGGAGGGAGAGAGGGC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0034 a0001c0044t0001g0034	1	294	0.0034	-41	c.504 others(58): Show c.504-2003_504-1963delGCCCTCTCTCCCTCCCAGCCTCCTTCCT CAGCCCACGGGGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF2_chr22_50497949_50512702	50504233	CCCCCCGG others(34): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0186 a0001c0009t0001g0186	1	414	0.0024	-41	c.171 others(57): Show c.1718+66_1718+106delTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMLN_chr3_197955217_198048720	198038863	ATCAGCAA others(34): Show ATCAGCAACCCAACCACCTTCATCAGCAACCCAACCACCTCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0021 a0001c0001t0026g0021	1	258	0.0039	-41	c.21 others(50): Show c.215_*255delTCATCAGCAACCCAACCACCTCGTCAGCAACCCAAC CACCT		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	17/17				215	INFO_REALIGN_3_PRIME	chr3	TogoVar
LMNTD2_chr11_549850_565738	562684	GACCTGGC others(34): Show GACCTGGCTGTTCAGGAGCGGCAGAGTGCGGAGGTGCAGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	387	0.0026	-41	c.-20 others(52): Show c.-2009_-1969delGCCCTGCACCTCCGCACTCTGCCGCTCCTGAACA GCCAGGT		LMNTD2	ENSG00000185522.9	transcript	ENST00000329451.8	protein_coding					1947		chr11	TogoVar
LMTK2_chr7_98101862_98214638	98140155	TTCTTTTC others(34): Show TTCTTTTCTTTTCTTTTCTTTCTTTTCTTTCTTCTTTCTGTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(55): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00673.hp2 HG01123.hp1 HG01346.hp1 HG01358.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02040.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0003 a0002c0002t0010 a0002c0002t0013 others(7): Show a0002c0002t0003 a0002c0002t0010 a0002c0002t0013 a0002c0002t0016 a0002c0002t0041 a0002c0002t0044 a0002c0002t0048 a0002c0002t0049 a0002c0006t0003 a0002c0006t0016	a0002c0002t0003g0001 a0002c0002t0003g0010 a0002c0002t0003g0012 others(50): Show a0002c0002t0003g0001 a0002c0002t0003g0010 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0023 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0041 a0002c0002t0003g0050 a0002c0002t0003g0052 a0002c0002t0003g0188 a0002c0002t0003g0302 a0002c0002t0003g0304 a0002c0002t0003g0305 a0002c0002t0003g0309 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0332 a0002c0002t0010g0036 a0002c0002t0010g0310 a0002c0002t0013g0001 a0002c0002t0013g0048 a0002c0002t0013g0051 a0002c0002t0013g0053 a0002c0002t0016g0306 a0002c0002t0016g0318 a0002c0002t0041g0069 a0002c0002t0044g0090 a0002c0002t0048g0049 a0002c0002t0049g0307 a0002c0006t0003g0002 a0002c0006t0003g0308 a0002c0006t0003g0317 a0002c0006t0016g0331	58	390	0.1487	-41	c.232 others(58): Show c.232-1240_232-1200delCTTTTCTTTTCTTTTCTTTCTTTTCTTT CTTCTTTCTGTCT		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LONRF1_chr8_12716906_12760526	12718070	CATGAGGT others(34): Show CATGAGGTGTACTCCCTGTGATATTATTCCTAATATCCTAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	404	0.0025	-41	c.49 others(52): Show c.4985_*5025delCCTAGGATATTAGGAATAATATCACAGGGAGTAC ACCTCAT		LONRF1	ENSG00000154359.13	transcript	ENST00000398246.8	protein_coding					3835		chr8	TogoVar
LOXHD1_chr18_46472273_46662220	46548216	TCTCTAAG others(34): Show TCTCTAAGTTGGGGCCATTCCACCCTCTTTATGTCCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00741.hp2 others(29): Show HG00140.hp2 HG00280.hp1 HG00741.hp2 HG01071.hp1 HG02015.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18961.hp1 NA18982.hp1 NA19030.hp2	a0001 a0003 a0006 others(7): Show a0001 a0003 a0006 a0008 a0024 a0031 a0035 a0036 a0037 a0050	a0001c0001 a0001c0022 a0003c0003 others(9): Show a0001c0001 a0001c0022 a0003c0003 a0003c0037 a0006c0006 a0008c0018 a0024c0038 a0031c0047 a0035c0063 a0036c0062 a0037c0059 a0050c0036	a0001c0001t0001 a0001c0022t0001 a0001c0022t0002 others(11): Show a0001c0001t0001 a0001c0022t0001 a0001c0022t0002 a0003c0003t0001 a0003c0003t0002 a0003c0037t0002 a0006c0006t0001 a0008c0018t0001 a0024c0038t0001 a0031c0047t0001 a0035c0063t0001 a0036c0062t0001 a0037c0059t0001 a0050c0036t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0130 others(29): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0130 a0001c0001t0001g0174 a0001c0001t0001g0193 a0001c0001t0001g0223 a0001c0022t0001g0266 a0001c0022t0002g0032 a0003c0003t0001g0046 a0003c0003t0001g0067 a0003c0003t0001g0122 a0003c0003t0001g0140 a0003c0003t0001g0148 a0003c0003t0001g0195 a0003c0003t0001g0199 a0003c0003t0001g0202 a0003c0003t0001g0222 a0003c0003t0002g0015 a0003c0037t0002g0014 a0006c0006t0001g0149 a0006c0006t0001g0151 a0006c0006t0001g0192 a0006c0006t0001g0207 a0006c0006t0001g0256 a0008c0018t0001g0123 a0008c0018t0001g0124 a0024c0038t0001g0045 a0031c0047t0001g0142 a0035c0063t0001g0169 a0036c0062t0001g0208 a0037c0059t0001g0221 a0050c0036t0001g0047	32	270	0.1185	-41	c.335 others(60): Show c.3351-1199_3351-1159delGGGAAGGGACATAAAGAGGGTGGAAT GGCCCCAACTTAGAG		LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	21/40						chr18	TogoVar
LPCAT1_chr5_1456427_1528960	1477262	TTCACCAA others(34): Show TTCACCAACATGCATGAAGCTGGTTCCCGCACTTCTGCAAGA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18964.hp1 NA18972.hp2 HG04228.hp1 NA18964.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0004t0013 a0001c0001t0013 a0001c0004t0013	a0001c0001t0013g0040 a0001c0001t0013g0053 a0001c0004t0013g0197 a0001c0001t0013g0040 a0001c0001t0013g0053 a0001c0004t0013g0197	3	386	0.0078	-41	c.899 others(56): Show c.899+101_899+141delTCTTGCAGAAGTGCGGGAACCAGCTTCATG CATGTTGGTGA		LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	9/13						chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1482507	GGGGTGGG others(34): Show GGGGTGGGCTGGGGTGGGGTGGGGTGGGGCAGAGCCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02451.hp2 others(7): Show HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02976.hp1 HG03453.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0010 others(1): Show a0001c0002 a0001c0003 a0001c0010 a0007c0017	a0001c0002t0001 a0001c0002t0015 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0015 a0001c0003t0001 a0001c0010t0001 a0007c0017t0001	a0001c0002t0001g0025 a0001c0002t0001g0253 a0001c0002t0001g0277 others(7): Show a0001c0002t0001g0025 a0001c0002t0001g0253 a0001c0002t0001g0277 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0289 a0001c0002t0015g0288 a0001c0003t0001g0281 a0001c0010t0001g0266 a0007c0017t0001g0097	10	386	0.0259	-41	c.726 others(56): Show c.726+880_726+920delTGCCCTGGCTCTGCCCCACCCCACCCCACC CCAGCCCACCC		LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	6/13						chr5	TogoVar
LRAT_chr4_154739000_154758120	154739540	TAAGATTA others(34): Show TAAGATTATCATTATTTATAGCCCAATGATTTAGTAATCTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	398	0.0025	-41	c.-46 others(52): Show c.-4683_-4643delAAGATTATCATTATTTATAGCCCAATGATTTAGT AATCTAA		LRAT	ENSG00000121207.12	transcript	ENST00000336356.4	protein_coding					4459		chr4	TogoVar
LRBA_chr4_150259435_151020284	151005560	TCTTTTTT others(34): Show TCTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTACCCAGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp1 others(33): Show HG00423.hp1 HG00544.hp1 HG00621.hp1 HG00733.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01891.hp2 HG01934.hp1 HG02055.hp2 HG02155.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 NA18906.hp2 NA18939.hp1 NA18966.hp2 NA18994.hp1 NA19043.hp2 NA19068.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0008 a0009 a0012	a0001c0007 a0001c0017 a0001c0019 others(8): Show a0001c0007 a0001c0017 a0001c0019 a0002c0002 a0002c0003 a0002c0040 a0004c0006 a0005c0011 a0008c0016 a0009c0010 a0012c0018	a0001c0007t0003 a0001c0017t0010 a0001c0019t0002 others(12): Show a0001c0007t0003 a0001c0017t0010 a0001c0019t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0003t0001 a0002c0003t0002 a0002c0040t0001 a0004c0006t0003 a0005c0011t0001 a0008c0016t0003 a0009c0010t0001 a0012c0018t0001	a0001c0007t0003g0165 a0001c0007t0003g0166 a0001c0007t0003g0167 others(33): Show a0001c0007t0003g0165 a0001c0007t0003g0166 a0001c0007t0003g0167 a0001c0017t0010g0136 a0001c0019t0002g0123 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0152 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0135 a0002c0002t0003g0138 a0002c0002t0007g0130 a0002c0002t0008g0141 a0002c0003t0001g0011 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0147 a0002c0003t0002g0149 a0002c0003t0002g0151 a0002c0040t0001g0129 a0004c0006t0003g0128 a0004c0006t0003g0142 a0004c0006t0003g0148 a0004c0006t0003g0150 a0005c0011t0001g0168 a0005c0011t0001g0169 a0008c0016t0003g0127 a0009c0010t0001g0131 a0009c0010t0001g0132 a0012c0018t0001g0126	36	180	0.2000	-41	c.216 others(58): Show c.216+8826_216+8866delCCTGGGTAACAGAGCAAGACTCTGTCTC CAAAAAAAAAAAG		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	2/56						chr4	TogoVar
LRIG1_chr3_66373797_66506022	66384678	CAATGGGA others(34): Show CAATGGGATGGCTCATCCGTTTGGATGGGTGTTCATGGGATG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03834.hp1 HG01123.hp1 HG03834.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0011 a0001c0002 a0010c0011	a0001c0002t0001 a0010c0011t0007 a0001c0002t0001 a0010c0011t0007	a0001c0002t0001g0075 a0010c0011t0007g0127 a0001c0002t0001g0075 a0010c0011t0007g0127	2	264	0.0076	-41	c.179 others(58): Show c.1790-447_1790-407delCATCCCATGAACACCCATCCAAACGGAT GAGCCATCCCATT		LRIG1	ENSG00000144749.14	transcript	ENST00000273261.8	protein_coding	13/18						chr3	TogoVar
LRRC14B_chr5_186495_201334	196676	CCGAGTGT others(34): Show CCGAGTGTGTCCCCACCCCAGGGGCCCCCATGTCACCCCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA18950.hp2 NA19086.hp1 others(1): Show HG02602.hp1 NA18950.hp2 NA19086.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0001 a0001c0001t0015g0001 a0001c0001t0003g0001 a0001c0001t0015g0001	4	470	0.0085	-41	c.13 others(52): Show c.1324_*1364delCGAGTGTGTCCCCACCCCAGGGGCCCCCATGTCA CCCCACT		LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding					343		chr5	TogoVar
LRRC14B_chr5_186495_201334	196678	GAGTGTGT others(34): Show GAGTGTGTCCCCACCCCAGGGGCCCCCATGTCACCCCACTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0021 a0013c0018t0021	a0013c0018t0021g0010 a0013c0018t0021g0010	1	470	0.0021	-41	c.13 others(52): Show c.1326_*1366delAGTGTGTCCCCACCCCAGGGGCCCCCATGTCACC CCACTCC		LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding					345		chr5	TogoVar
LRRC45_chr17_82018305_82036151	82028065	GGGGGAGC others(34): Show GGGGGAGCTCCTGGCCACAGCGGAGCAGGAGCAGCTGAGCCT	G G	frameshift_variant frameshift_variant	HIGH	HG03710.hp1 HG03710.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0002 a0009c0017t0002	a0009c0017t0002g0001 a0009c0017t0002g0001	1	408	0.0025	-41	c.968 others(49): Show c.968_1008delGGGAGCTCCTGGCCACAGCGGAGCAGGAGCAGCTGAG CCTG	p.Gly others(5): Show p.Gly323fs	LRRC45	ENSG00000169683.8	transcript	ENST00000306688.8	protein_coding	9/17	1307/2698	968/2013	323/670		INFO_REALIGN_3_PRIME	chr17	TogoVar
LRRC69_chr8_91097619_91224257	91147229	CTATATTA others(34): Show CTATATTATATATAAACATATAATATATATTATATATAAACA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0129 a0002c0002t0001g0005 a0002c0002t0001g0129	3	318	0.0094	-41	c.651 others(60): Show c.651+11511_651+11551delAATATATATTATATATAAACATATAT TATATATAAACATAT		LRRC69	ENSG00000214954.9	transcript	ENST00000448384.3	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
LRRC71_chr1_156915632_156938094	156924354	ACCCGTGG others(34): Show ACCCGTGGGCCGGCCCGGCGTGGGGCCCTGGAGGTGGCTGTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	402	0.0025	-41	c.311 others(54): Show c.311-66_311-26delGTGGGCCGGCCCGGCGTGGGGCCCTGGAGGTG GCTGTTCCC		LRRC71	ENSG00000160838.14	transcript	ENST00000337428.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC8E_chr19_7883510_7907016	7884500	GGGGGAGG others(34): Show GGGGGAGGAGAAGGAAGGCAAGGAGGAGGAGAGGGAGGAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0015 a0003c0005t0015	a0003c0005t0015g0168 a0003c0005t0015g0168	1	390	0.0026	-41	c.-41 others(52): Show c.-4105_-4065delGGGGAGGAGAAGGAAGGCAAGGAGGAGGAGAGGG AGGAGGA		LRRC8E	ENSG00000171017.11	transcript	ENST00000306708.11	protein_coding					4009		chr19	TogoVar
LSP1_chr11_1848084_1897263	1881607	GCCTCGAG others(34): Show GCCTCGAGGGCGGGCGCTGGGCAGAGCAGGGCTCCCTCTGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG01168.hp2 others(28): Show HG00408.hp2 HG00733.hp1 HG01168.hp2 HG01169.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp2 HG02056.hp1 HG02257.hp1 HG02647.hp2 HG02976.hp1 HG03195.hp1 HG03486.hp2 HG03942.hp1 HG04228.hp2 NA18943.hp2 NA18944.hp2 NA18952.hp1 NA18973.hp2 NA18979.hp2 NA18990.hp1 NA18993.hp1 NA18999.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp1 NA19067.hp2 NA19079.hp2 NA19085.hp1 NA19088.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 others(1): Show a0001c0003 a0002c0001 a0002c0005 a0002c0012	a0001c0003t0001 a0002c0001t0001 a0002c0001t0006 others(4): Show a0001c0003t0001 a0002c0001t0001 a0002c0001t0006 a0002c0001t0007 a0002c0005t0001 a0002c0005t0009 a0002c0012t0001	a0001c0003t0001g0185 a0002c0001t0001g0006 a0002c0001t0001g0035 others(25): Show a0001c0003t0001g0185 a0002c0001t0001g0006 a0002c0001t0001g0035 a0002c0001t0001g0189 a0002c0001t0001g0205 a0002c0001t0001g0207 a0002c0001t0001g0214 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0257 a0002c0001t0001g0259 a0002c0001t0001g0264 a0002c0001t0001g0282 a0002c0001t0006g0245 a0002c0001t0007g0006 a0002c0005t0001g0086 a0002c0005t0001g0130 a0002c0005t0009g0085 a0002c0012t0001g0006	31	360	0.0861	-41	c.356 others(55): Show c.356+84_356+124delTCCCTCTGGACCTCGAGGGCGGGCGCTGGGC AGAGCAGGGC		LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
LTBP4_chr19_40596369_40634818	40625273	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	338	0.0030	-41	c.383 others(58): Show c.3833-583_3833-543delATATATATATATATATATATATATATAT ATATATATATATA		LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29						chr19	TogoVar
LY86_chr6_6583720_6659982	6657546	GGATCCAA others(34): Show GGATCCAATCAGATCATGCCTCCCAGCATCACCTCATTGCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	424	0.0024	-41	c.29 others(52): Show c.2920_*2960delGATCCAATCAGATCATGCCTCCCAGCATCACCTC ATTGCAA		LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding					2565		chr6	TogoVar
LYPLA1_chr8_54041367_54106947	54104832	ACACCAAT others(34): Show ACACCAATCAGCACTCTGTGTCTAGCTCAAGGTTTGTAAATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	306	0.0033	-41	c.-30 others(52): Show c.-3050_-3010delCATTTACAAACCTTGAGCTAGACACAGAGTGCTG ATTGGTG		LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding					2886		chr8	TogoVar

Search by Variant

Search

Search Results (Total: 1267 hits)