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 (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	408	0.0025	41	c.790 others(56): Show c.790-449_790-448insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIRREL2_chr19_35851911_35872136	35864741	T T	TCACCCCC others(34): Show TCACCCCCTACTCACCCATGCCCTTGCCTCTCTCCACCCTAC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	340	0.0029	41	c.179 others(56): Show c.1791+28_1791+29insCACCCCCTACTCACCCATGCCCTTGCCTCT CTCCACCCTAC	KIRREL2	ENSG00000126259.20	transcript	ENST00000360202.10	protein_coding	14/14			chr19	TogoVar
KIRREL3_chr11_126418358_127005770	126923176	C C	CTTCTTCT others(34): Show CTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0036 a0001c0001t0045g0036	1	114	0.0088	41	c.55+ others(58): Show c.55+77278_55+77279insAGAGAAGAAGAAGAAGAGAAGAAGAAGA AGAAGAAGAAGAA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KLHDC10_chr7_130065534_130140705	130128889	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	386	0.0026	41	c.980 others(56): Show c.980-547_980-546insAAAAAAATATATATATATATATATATATAT ATATATATATA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	208	0.0048	41	c.22 others(52): Show c.2297_*2298insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	208	0.0048	41	c.22 others(52): Show c.2297_*2298insAAAAAAAAAAAATATATATATATATATATATATA TATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG03041.hp1 HG01928.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0162 a0001c0001t0001g0090 a0001c0001t0001g0162	2	208	0.0096	41	c.22 others(52): Show c.2297_*2298insAAAAAATATATATATATATATATATATATATATA TATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87706118	A A	AGCAAACA others(34): Show AGCAAACACAAGCTGCAGCCCTCGCGGGGGGGTCAGCGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	380	0.0026	41	c.19 others(52): Show c.1918_*1958dupATTACGCTGACCCCCCCGCGAGGGCTGCAGCTTG TGTTTGC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		1693		chr16	TogoVar
KLHL14_chr18_32667673_32778023	32773926	G G	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	204	0.0049	41	c.-13 others(52): Show c.-1304_-1303insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	KLHL14	ENSG00000197705.10	transcript	ENST00000359358.9	protein_coding		904		chr18	TogoVar
KLHL20_chr1_173709981_173791692	173755722	A A	AAGATAAG others(34): Show AAGATAAGCTAAAAAATAAATAAAAAAAAAGATATCTAAAAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	310	0.0032	41	c.852 others(56): Show c.852-200_852-199insGATAAGCTAAAAAATAAATAAAAAAAAAGA TATCTAAAATA	KLHL20	ENSG00000076321.11	transcript	ENST00000209884.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
KRT2_chr12_52639558_52657211	52647892	T T	TCCTCCCC others(34): Show TCCTCCCCCTTCCCTCCCCCCCTTCCCCCCCCCTTCCCCAGG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0071 a0010c0018t0001g0071	1	466	0.0022	41	c.112 others(56): Show c.1123-38_1123-37insCCTGGGGAAGGGGGGGGGAAGGGGGGGAGG GAAGGGGGAGG	KRT2	ENSG00000172867.4	transcript	ENST00000309680.4	protein_coding	5/8			chr12	TogoVar
KRT8_chr12_52892191_52910076	52894985	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	386	0.0026	41	c.24 others(52): Show c.2442_*2443insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2205		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894989	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	386	0.0026	41	c.24 others(52): Show c.2438_*2439insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2201		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	386	0.0026	41	c.24 others(52): Show c.2430_*2431insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0031 a0001c0002t0004g0031	1	386	0.0026	41	c.24 others(52): Show c.2430_*2431insCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52895015	A A	AAAGAAAG others(34): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	386	0.0026	41	c.24 others(52): Show c.2412_*2413insACTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2175		chr12	TogoVar
KRTAP10-12_chr21_44692172_44703044	44697007	T T	TCCCATCC others(34): Show TCCCATCCAGCACCCAGACGCTCACTCACTCCCTCCCTCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG03704.hp1 HG01070.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	446	0.0045	41	c.-19 others(50): Show c.-195_-194insCCCATCCAGCACCCAGACGCTCACTCACTCCCTCCC TCCTG	KRTAP10-12	ENSG00000189169.8	transcript	ENST00000400365.3	protein_coding		164		chr21	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGGAAAGGAAAGAAAGAAAGAAAGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	413	0.0024	41	c.49 others(52): Show c.4943_*4944insTTTCCTTCTTTCTTTCTTTCTTTCCTTTCCTTTC TTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP25-1_chr21_30284145_30294514	30285520	A A	AATCGTTA others(34): Show AATCGTTATAATCCAAAAAAGGTAGGGAATGTATTTCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	452	0.0022	41	c.36 others(52): Show c.3661_*3662insAGGGAGAAATACATTCCCTACCTTTTTTGGATTA TAACGAT	KRTAP25-1	ENSG00000232263.1	transcript	ENST00000416044.1	protein_coding		3624		chr21	TogoVar
L3MBTL4_chr18_5949717_6419911	6099585	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19002.hp1 NA19002.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0004c0009t0002 a0001c0001t0002 a0004c0009t0002	a0001c0001t0002g0020 a0004c0009t0002g0012 a0001c0001t0002g0020 a0004c0009t0002g0012	2	94	0.0213	41	c.120 others(60): Show c.1200-6058_1200-6057insATATATATATATATATATATATATAT ATATATATATATATA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
LAMA5_chr20_62304065_62372312	62360462	T T	TGGGTGGA others(34): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02129.hp1 NA19010.hp1 others(1): Show HG02040.hp1 HG02129.hp1 NA19010.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0004 others(1): Show a0000 a0001 a0004 a0045	a0000c0103 a0001c0082 a0004c0091 others(1): Show a0000c0103 a0001c0082 a0004c0091 a0045c0101	a0000c0103t0001 a0001c0082t0002 a0004c0091t0004 others(1): Show a0000c0103t0001 a0001c0082t0002 a0004c0091t0004 a0045c0101t0001	a0000c0103t0001g0100 a0001c0082t0002g0012 a0004c0091t0004g0001 others(1): Show a0000c0103t0001g0100 a0001c0082t0002g0012 a0004c0091t0004g0001 a0045c0101t0001g0144	4	186	0.0215	41	c.450 others(58): Show c.450+1937_450+1938insTACCTATCCTTCTACCCACCCACCCATC TATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360546	G G	GGTGGAGG others(34): Show GGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0078 a0078	a0078c0059 a0078c0059	a0078c0059t0001 a0078c0059t0001	a0078c0059t0001g0033 a0078c0059t0001g0033	1	186	0.0054	41	c.450 others(58): Show c.450+1853_450+1854insTCTATCCCTCCACCCACCCACCCACCCA TCTATCCCTCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTATATATATATATATATATACTGTATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19084.hp1 NA19005.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0052 a0001c0002t0002g0012 a0001c0002t0002g0052	2	308	0.0065	41	c.419 others(60): Show c.419-25551_419-25550insGTGTGTGTGTATATATATATATATAT ATACTGTATATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTATATATATATATATATATATACTGTATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0018 a0018	a0018c0038 a0018c0038	a0018c0038t0002 a0018c0038t0002	a0018c0038t0002g0079 a0018c0038t0002g0079	1	308	0.0033	41	c.419 others(60): Show c.419-25551_419-25550insGTGTGTGTGTATATATATATATATAT ATATACTGTATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0197 a0001c0003t0003g0197	1	300	0.0033	41	c.218 others(56): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATATGTATGTA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12			chr4	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(34): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0255 a0001c0001t0034g0255	1	380	0.0026	41	c.603 others(58): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	336	0.0030	41	c.988 others(58): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4_chr12_50395885_50485004	50446360	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA21309.hp1 HG02970.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0159 a0001c0001t0008g0183 a0001c0001t0001g0159 a0001c0001t0008g0183	2	318	0.0063	41	c.804 others(58): Show c.804+4728_804+4729insCCCCCCCTTCCCCTCCCCCTCCCCCTCT CCCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446362	T T	TCTCTCTC others(34): Show TCTCTCTCTCCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	318	0.0031	41	c.804 others(58): Show c.804+4728_804+4729insCCCCCCCCCTTCCCCTCCCCCTCCCCCT CTCCCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446362	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0187 a0003c0003t0001g0187	1	318	0.0031	41	c.804 others(58): Show c.804+4730_804+4731insCCCCCCCTTCCCCTCCCCCTCCCCCTCT CCCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446364	T T	TCTCCCCC others(34): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04228.hp2 HG03491.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0231 a0001c0001t0001g0237	2	318	0.0063	41	c.804 others(58): Show c.804+4724_804+4725insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446368	T T	TCTCCCCC others(34): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19005.hp2 HG02165.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0248 a0001c0001t0001g0257	2	318	0.0063	41	c.804 others(58): Show c.804+4728_804+4729insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LATS2_chr13_20968036_21066586	21007545	G G	GTATATAT others(34): Show GTATATATATATATATATATATATATATATATATATATAGTA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0236 a0003c0003t0001g0236	1	316	0.0032	41	c.343 others(60): Show c.343-16142_343-16141insTACTATATATATATATATATATATAT ATATATATATATATA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LCN12_chr9_136947273_136960497	136951025	G G	GTGGGAGG others(34): Show GTGGGAGGGGGCAGCCAGGACAGGGACCTGGTGGGAGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01175.hp1 others(6): Show HG00099.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG02135.hp2 HG02683.hp2 HG02698.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	9	382	0.0236	41	c.-13 others(52): Show c.-1303_-1302insTGGGAGGGGGCAGCCAGGACAGGGACCTGGTGGG AGGAGGT	LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding		1247		chr9	TogoVar
LCP2_chr5_170241233_170302777	170289714	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02622.hp1 others(2): Show HG02572.hp1 HG02572.hp2 HG02622.hp1 HG03098.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0003c0012	a0001c0002t0001 a0001c0002t0003 a0001c0003t0013 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0013 a0001c0004t0001 a0003c0012t0001	a0001c0002t0001g0334 a0001c0002t0003g0006 a0001c0003t0013g0289 others(2): Show a0001c0002t0001g0334 a0001c0002t0003g0006 a0001c0003t0013g0289 a0001c0004t0001g0333 a0003c0012t0001g0288	5	384	0.0130	41	c.142 others(58): Show c.142-1699_142-1698insGAAAGAAGGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAG	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LGSN_chr6_63270951_63324983	63281302	A A	AAAATATA others(34): Show AAAATATATATATATATATATATATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	312	0.0032	41	c.331 others(54): Show c.331-83_331-82insATTATATATATATATATATATATATATATATA TATATATTT	LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3			chr6	TogoVar
LGSN_chr6_63270951_63324983	63281304	A A	AATATATA others(34): Show AATATATATATATATATATATATATATATATATATAATAAAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	312	0.0032	41	c.331 others(54): Show c.331-85_331-84insATTTATTATATATATATATATATATATATATA TATATATAT	LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3			chr6	TogoVar
LHFPL2_chr5_78480230_78653772	78651583	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	254	0.0039	41	c.-34 others(52): Show c.-3435_-3434insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding		2812		chr5	TogoVar
LIN54_chr4_82919603_83015823	82947235	A A	ATATATAT others(34): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0291 a0001c0001t0008g0291	1	304	0.0033	41	c.952 others(56): Show c.952-762_952-761insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATA	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	4/12			chr4	TogoVar
LIN54_chr4_82919603_83015823	83001858	A A	AAAAGGAA others(34): Show AAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03486.hp1 HG04199.hp2 others(1): Show HG02896.hp1 HG03486.hp1 HG04199.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0120	4	304	0.0132	41	c.-33 others(58): Show c.-33+8625_-33+8626insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTT	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	1/12			chr4	TogoVar
LINGO2_chr9_27932617_29218601	28367102	A A	ATATATAA others(34): Show ATATATAACTATATATATTATATATATAATATATATAACTAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp1 HG02630.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0039 a0001c0001t0021g0051 a0001c0001t0004g0039 a0001c0001t0021g0051	2	62	0.0323	41	c.-19 others(60): Show c.-195+5733_-195+5734insATAGTTATATATATTATATATATAAT ATATATAGTTATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	5/6			chr9	TogoVar
LIPG_chr18_49557057_49604185	49579188	G G	GGGAGAGG others(34): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	384	0.0026	41	c.794 others(58): Show c.794-2224_794-2184dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579218	G G	GGGAGAGG others(34): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0143 a0001c0001t0102g0143	1	384	0.0026	41	c.794 others(58): Show c.794-2177_794-2176insAGAGGGAGAGGGAGAGGGAGAGGAGAGG GAGAGGGAGAGGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	859340	G G	GAGTGGTG others(34): Show GAGTGGTGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0020 a0020	a0020c0059 a0020c0059	a0020c0059t0002 a0020c0059t0002	a0020c0059t0002g0199 a0020c0059t0002g0199	1	294	0.0034	41	c.153 others(60): Show c.1530-4635_1530-4634insACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	882847	G G	GCCCAGCG others(34): Show GCCCAGCGGAGCCCATCGCAGGACCAGGAGAAAGAGGAGCCA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	294	0.0034	41	c.730 others(58): Show c.730-3151_730-3111dupTGGCTCCTCTTTCTCCTGGTCCTGCGAT GGGCTCCGCTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LMF1_chr16_848634_975984	920989	A A	ACTCGGCA others(34): Show ACTCGGCACCACGTGGCCCAGAGCAGGCTCGTGAGCTGGCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0001 a0002c0052t0001	a0002c0052t0001g0018 a0002c0052t0001g0018	1	294	0.0034	41	c.515 others(58): Show c.515-9951_515-9911dupAGGCCAGCTCACGAGCCTGCTCTGGGCC ACGTGGTGCCGAG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMNTD2_chr11_549850_565738	555205	A A	AGGGGCGG others(34): Show AGGGGCGGGGAGGAGAGCGGAGGGGCGGGGAGGAGAGCGGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0060 a0002c0008t0001g0060	1	387	0.0026	41	c.177 others(56): Show c.1774-95_1774-94insCTCCGCTCTCCTCCCCGCCCCTCCGCTCTC CTCCCCGCCCC	LMNTD2	ENSG00000185522.9	transcript	ENST00000329451.8	protein_coding	13/13			chr11	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	400	0.0025	41	c.-84 others(50): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		634		chr1	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGTGCG others(34): Show TGTGTGCGCGCGCGCGCGCAGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	358	0.0028	41	c.-10 others(60): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCGCGCGCTGCG CGCGCGCGCGCACAC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02040.hp2 HG02300.hp2 others(4): Show HG01978.hp2 HG02040.hp2 HG02300.hp2 HG03130.hp2 HG03471.hp2 NA18969.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	7	330	0.0212	41	c.-41 others(52): Show c.-4154_-4153insAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAG ACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar

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