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	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
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(30): Show GTGTGTGTGTGTATATATATATATATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18944.hp1 NA18957.hp2 others(1): Show HG02080.hp1 NA18944.hp1 NA18957.hp2 NA19000.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0015 a0001c0002 a0006c0015	a0001c0002t0002 a0006c0015t0002 a0001c0002t0002 a0006c0015t0002	a0001c0002t0002g0050 a0001c0002t0002g0059 a0001c0002t0002g0074 others(1): Show a0001c0002t0002g0050 a0001c0002t0002g0059 a0001c0002t0002g0074 a0006c0015t0002g0015	4	308	0.0130	37	c.419 others(56): Show c.419-25551_419-25550insGTGTGTGTGTATATATATATATATAT ATACTGTATAT		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(30): Show TATATATATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02896.hp1 others(2): Show HG02622.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0199 a0001c0003t0003g0200 others(1): Show a0001c0003t0003g0014 a0001c0003t0003g0199 a0001c0003t0003g0200 a0001c0003t0003g0201	5	300	0.0167	37	c.218 others(52): Show c.218+246_218+247insATATATATATATATATATATATATATATAT GTATGTA		LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12						chr4	TogoVar
LAPTM4A_chr2_20027650_20056628	20046761	T T	TATATATA others(30): Show TATATATAATATAATATATAAATATATATATAATATAA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	424	0.0024	37	c.111 others(54): Show c.111+4648_111+4649insTTATATTATATATATATTTATATATTAT ATTATATAT		LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6						chr2	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(30): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	380	0.0026	37	c.603 others(54): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM5_chr1_30727469_30762774	30747055	A A	AGAGCCAT others(30): Show AGAGCCATGACAGAGGACACGCATGGGGCTTGGGGTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	421	0.0024	37	c.88- others(52): Show c.88-4543_88-4507dupGGACCCCAAGCCCCATGCGTGTCCTCTGTC ATGGCTC		LAPTM5	ENSG00000162511.8	transcript	ENST00000294507.4	protein_coding	1/7						chr1	TogoVar
LARGE1_chr22_33267509_33925476	33675292	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	110	0.0091	37	c.107 others(56): Show c.107-24625_107-24624insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14						chr22	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 NA18983.hp1 others(1): Show HG00423.hp1 HG00544.hp1 NA18983.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0294 a0002c0002t0002g0297 others(1): Show a0002c0002t0002g0066 a0002c0002t0002g0294 a0002c0002t0002g0297 a0002c0002t0002g0298	4	336	0.0119	37	c.988 others(54): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19					INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4_chr12_50395885_50485004	50446360	T T	TCTCTCCC others(30): Show TCTCTCCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0162 a0003c0003t0001g0162	1	318	0.0031	37	c.804 others(54): Show c.804+4722_804+4723insCCCCCCCCCTTCCCCTCCCCCTCCCCCT CTCCCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446366	T T	TCTCTCCC others(30): Show TCTCTCCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	318	0.0031	37	c.804 others(54): Show c.804+4728_804+4729insCCCCCCCCCTTCCCCTCCCCCTCCCCCT CTCCCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LATS2_chr13_20968036_21066586	21007700	G G	GTGTATAT others(30): Show GTGTATATATATATATATATATATATAGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01099.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0001 a0001c0030t0001 a0001c0001t0001 a0001c0030t0001	a0001c0001t0001g0090 a0001c0030t0001g0091 a0001c0001t0001g0090 a0001c0030t0001g0091	2	316	0.0063	37	c.343 others(56): Show c.343-16297_343-16296insTATATATACACTATATATATATATAT ATATATATACA		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LATS2_chr13_20968036_21066586	21007700	G G	GTGTATAT others(30): Show GTGTATATATATATATATATATATATATATAGTGTATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0226 a0001c0001t0027g0226	1	316	0.0032	37	c.343 others(56): Show c.343-16297_343-16296insTATACACTATATATATATATATATAT ATATATATACA		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LCK_chr1_32246265_32291165	32272574	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	274	0.0037	37	c.-5- others(52): Show c.-5-1750_-5-1714dupGAGAGAGAGAGAAAGAGAGAGAGAGAGAGA AAGAGAG		LCK	ENSG00000182866.18	transcript	ENST00000336890.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
LCN15_chr9_136754634_136769518	136759392	G G	GCCTCTTC others(30): Show GCCTCTTCACCCAGGGCCCCCTCACCCTTGTCCCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	356	0.0028	37	c.42 others(46): Show c.423_*424insGCAGGGGACAAGGGTGAGGGGGCCCTGGGTGAAGAG G		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					241		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769398	C C	CCCCCCCC others(30): Show CCCCCCCCCCGCCACCCCGCCACCCCCCCCATGCACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	356	0.0028	37	c.-49 others(48): Show c.-4911_-4910insAAGTGCATGGGGGGGGTGGCGGGGTGGCGGGGGG GGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4881		chr9	TogoVar
LCN8_chr9_136749386_136763243	136759392	G G	GCCTCTTC others(30): Show GCCTCTTCACCCAGGGCCCCCTCACCCTTGTCCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	37	c.-14 others(48): Show c.-1463_-1462insGCAGGGGACAAGGGTGAGGGGGCCCTGGGTGAAG AGG		LCN8	ENSG00000204001.10	transcript	ENST00000371688.8	protein_coding					1150		chr9	TogoVar
LCP2_chr5_170241233_170302777	170289714	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTTTCTTTCTTTCTTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0286 a0001c0002t0006g0286	1	384	0.0026	37	c.142 others(54): Show c.142-1699_142-1698insGAAAGAAGGAAAGAAAGAAAGAAAGAGA GAGAGAGAG		LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20						chr5	TogoVar
LDB3_chr10_86663511_86741072	86735640	G G	GGTGGGTG others(30): Show GGTGGGTGTTTTGGGTGTTTTGGTTATTTTTGGTGCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0104 a0001c0001t0085g0104	1	332	0.0030	37	c.26 others(48): Show c.2664_*2665insGTGGGTGTTTTGGGTGTTTTGGTTATTTTTGGTG CTA		LDB3	ENSG00000122367.21	transcript	ENST00000361373.9	protein_coding	14/14				2665		chr10	TogoVar
LENG1_chr19_54150161_54164721	54163763	C C	CCCTCCAG others(30): Show CCCTCCAGTGGAGCAATGAGCTTGAACACGGGCGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	421	0.0024	37	c.-41 others(48): Show c.-4105_-4069dupCTGCCGCCCGTGTTCAAGCTCATTGCTCCACTGG AGG		LENG1	ENSG00000105617.4	transcript	ENST00000222224.4	protein_coding					4043		chr19	TogoVar
LGSN_chr6_63270951_63324983	63281302	A A	AAAATATA others(30): Show AAAATATATATATATATATATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19089.hp2 NA19059.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	2	312	0.0064	37	c.331 others(50): Show c.331-83_331-82insATTATATATATATATATATATATATATATATA TATTT		LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3						chr6	TogoVar
LHFPL2_chr5_78480230_78653772	78651583	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0070 a0001c0003t0009g0070	1	254	0.0039	37	c.-34 others(48): Show c.-3435_-3434insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding					2812		chr5	TogoVar
LILRA1_chr19_54588632_54607381	54602234	G G	GTCTACCC others(30): Show GTCTACCCTCTAGAGTAAACAAATCTTATCATTCGCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02486.hp2 others(2): Show HG02109.hp2 HG02280.hp2 HG02486.hp2 HG02965.hp1 HG06807.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0016 a0011c0015t0020 a0001c0001t0016 a0011c0015t0020	a0001c0001t0016g0023 a0011c0015t0020g0038 a0001c0001t0016g0023 a0011c0015t0020g0038	5	453	0.0110	37	c.14 others(48): Show c.1431_*1467dupGTAAACAAATCTTATCATTCGCCATCTACCCTCT AGA		LILRA1	ENSG00000104974.12	transcript	ENST00000251372.8	protein_coding	10/10				1468	INFO_REALIGN_3_PRIME	chr19	TogoVar
LILRB3_chr19_54211278_54228007	54214812	T T	TGGCGGCC others(30): Show TGGCGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG04115.hp2 HG03710.hp2 HG04115.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0006 a0002c0009t0001g0006	2	455	0.0044	37	c.22 others(48): Show c.2244_*2280dupCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC GCC		LILRB3	ENSG00000204577.12	transcript	ENST00000445347.2	protein_coding					1465		chr19	TogoVar
LIM2_chr19_51374909_51392974	51388778	A A	AGGGAGGC others(30): Show AGGGAGGCCTGGGTACGAGGTTTAGGGGGGGGGTGGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	438	0.0023	37	c.-86 others(46): Show c.-867_-866insAACCACCCCCCCCCTAAACCTCGTACCCAGGCCTCC C		LIM2	ENSG00000105370.8	transcript	ENST00000596399.2	protein_coding					805		chr19	TogoVar
LIMD1_chr3_45589751_45691341	45594789	A A	ACACACAC others(30): Show ACACACACACACACACACACACACACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0277 a0001c0001t0134g0277	1	358	0.0028	37	c.-90 others(44): Show c.-90_-54dupCACACACACACACACACACACACACACACACACACAC		LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding	1/8				53	INFO_REALIGN_3_PRIME	chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0336 a0001c0002t0027g0336	1	358	0.0028	37	c.96 others(48): Show c.9604_*9605insTATATATATATATATATATATATATTTTTTTTTT TTT		LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding					323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG01069.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0112 a0001c0003t0121 a0001c0002t0112 a0001c0003t0121	a0001c0002t0112g0304 a0001c0003t0121g0152 a0001c0002t0112g0304 a0001c0003t0121g0152	2	358	0.0056	37	c.96 others(48): Show c.9604_*9605insTATATATATATATATATATATATTTTTTTTTTTT TTT		LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding					323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0199 a0001c0001t0199	a0001c0001t0199g0072 a0001c0001t0199g0072	1	358	0.0028	37	c.96 others(48): Show c.9604_*9605insTATATATATATATATATATTTTTTTTTTTTTTTT TTT		LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding					323		chr3	TogoVar
LIMS1_chr2_108529470_108692246	108569764	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03017.hp2 HG04184.hp1 others(1): Show HG02602.hp2 HG03017.hp2 HG04184.hp1 NA18947.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0004 a0004c0006t0004 a0001c0002t0004 a0004c0006t0004	a0001c0002t0004g0235 a0001c0002t0004g0237 a0001c0002t0004g0244 others(1): Show a0001c0002t0004g0235 a0001c0002t0004g0237 a0001c0002t0004g0244 a0004c0006t0004g0243	4	246	0.0163	37	c.32+ others(54): Show c.32+35189_32+35190insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
LIMS2_chr2_127633426_127680530	127648966	G G	GGAGGGGG others(30): Show GGAGGGGGGGGAGGGGAGGGAGGGGAGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	348	0.0029	37	c.359 others(54): Show c.359+5457_359+5458insTCCCCCCTCCCCTCCCCTCCCTCCCCTC CCCCCCCTC		LIMS2	ENSG00000072163.20	transcript	ENST00000355119.9	protein_coding	4/9						chr2	TogoVar
LIN28B_chr6_104952107_105088332	105023523	T T	TATATAAC others(30): Show TATATAACCTATATATATTATATATTATATATATTATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	278	0.0036	37	c.199 others(54): Show c.199-2775_199-2774insATATAACCTATATATATTATATATTATA TATATTATA		LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3						chr6	TogoVar
LIN54_chr4_82919603_83015823	83001858	A A	AAAAGGAA others(30): Show AAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02572.hp2 HG03130.hp1 others(2): Show HG02040.hp2 HG02572.hp2 HG03130.hp1 NA18983.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0056 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0089	5	304	0.0165	37	c.-33 others(54): Show c.-33+8625_-33+8626insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCTTT		LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	1/12						chr4	TogoVar
LINGO2_chr9_27932617_29218601	28861077	A A	ATATATAA others(30): Show ATATATAATATAAATTATATAAATATATAAAATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp1 HG02572.hp2 others(5): Show HG00408.hp2 HG01261.hp1 HG02572.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03139.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0028 others(5): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0028 a0001c0001t0003g0049 a0001c0001t0011g0002 a0001c0001t0022g0031 a0001c0001t0024g0027 a0001c0001t0027g0030	8	62	0.1290	37	c.-39 others(58): Show c.-395+86704_-395+86740dupAATATATTTTATATATTTATATAA TTTATATTATATA		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6						chr9	TogoVar
LINGO2_chr9_27932617_29218601	28861136	A A	ATATATAA others(30): Show ATATATAAAATATATTTATATAATATAAATTATATAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00639.hp1 others(12): Show HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG01074.hp1 HG02027.hp1 HG02056.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02809.hp1 HG02976.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0003t0009	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0035 others(12): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0004g0033 a0001c0001t0017g0007 a0001c0001t0019g0053 a0001c0001t0020g0042 a0001c0001t0029g0024 a0001c0001t0030g0026 a0001c0001t0035g0060 a0001c0001t0036g0062 a0001c0003t0009g0036	15	62	0.2419	37	c.-39 others(58): Show c.-395+86681_-395+86682insCTTATATAATTTATATTATATAAA TATATTTTATATA		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6						chr9	TogoVar
LIPG_chr18_49557057_49604185	49579009	G G	GAGAGGGA others(30): Show GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	384	0.0026	37	c.794 others(54): Show c.794-2406_794-2405insAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGA		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9						chr18	TogoVar
LMBR1L_chr12_49092139_49115847	49098003	G G	GGGTCAGC others(30): Show GGGTCAGCCGGCCCACAAGGCTGCTGTGTAGAGGACGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02129.hp2 HG02129.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0066 a0005c0008t0001g0066	1	380	0.0026	37	c.134 others(46): Show c.1342_1343insACGTCCTCTACACAGCAGCCTTGTGGGCCGGCTGAC C	p.Thr others(5): Show p.Thr448fs	LMBR1L	ENSG00000139636.16	transcript	ENST00000267102.13	protein_coding	16/17	1634/2295	1342/1470	448/489			chr12	TogoVar
LMF1_chr16_848634_975984	918812	C C	CCCCGACT others(30): Show CCCCGACTCTCACGCGGGGCCGGCGTCCCGGGGCGCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(108): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18966.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0014 a0017 a0022	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0022 a0001c0023 a0001c0041 a0001c0044 a0001c0053 a0001c0067 a0002c0016 a0002c0017 a0002c0051 a0002c0052 a0002c0054 a0003c0030 a0004c0025 a0004c0043 a0005c0019 a0006c0021 a0006c0048 a0007c0028 a0008c0045 a0009c0024 a0011c0038 a0011c0039 a0014c0040 a0017c0050 a0022c0042	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(41): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0016 a0001c0005t0001 a0001c0005t0012 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0013t0001 a0001c0013t0014 a0001c0022t0001 a0001c0023t0001 a0001c0041t0001 a0001c0044t0001 a0001c0053t0002 a0001c0067t0001 a0002c0016t0001 a0002c0017t0001 a0002c0051t0001 a0002c0052t0001 a0002c0054t0001 a0003c0030t0002 a0004c0025t0007 a0004c0043t0003 a0005c0019t0001 a0006c0021t0001 a0006c0021t0006 a0006c0048t0006 a0007c0028t0004 a0008c0045t0003 a0009c0024t0001 a0011c0038t0001 a0011c0039t0002 a0014c0040t0004 a0017c0050t0001 a0022c0042t0001	a0001c0001t0001g0024 a0001c0001t0001g0181 a0001c0001t0001g0228 others(108): Show a0001c0001t0001g0024 a0001c0001t0001g0181 a0001c0001t0001g0228 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0006g0050 a0001c0002t0011g0292 a0001c0003t0001g0183 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0067 a0001c0004t0001g0075 a0001c0004t0001g0077 a0001c0004t0001g0087 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0004g0030 a0001c0004t0005g0078 a0001c0004t0016g0025 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0080 a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0001g0248 a0001c0005t0012g0110 a0001c0006t0001g0055 a0001c0006t0001g0082 a0001c0006t0001g0092 a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0001g0290 a0001c0006t0002g0282 a0001c0006t0002g0283 a0001c0008t0001g0023 a0001c0008t0001g0052 a0001c0008t0001g0069 a0001c0008t0001g0074 a0001c0008t0001g0079 a0001c0008t0001g0090 a0001c0008t0002g0071 a0001c0013t0001g0043 a0001c0013t0001g0045 a0001c0013t0001g0046 a0001c0013t0001g0220 a0001c0013t0014g0022 a0001c0022t0001g0241 a0001c0023t0001g0244 a0001c0023t0001g0246 a0001c0041t0001g0088 a0001c0044t0001g0034 a0001c0053t0002g0031 a0001c0067t0001g0056 a0002c0016t0001g0068 a0002c0016t0001g0070 a0002c0016t0001g0076 a0002c0017t0001g0038 a0002c0017t0001g0081 a0002c0017t0001g0096 a0002c0051t0001g0206 a0002c0052t0001g0018 a0002c0054t0001g0114 a0003c0030t0002g0008 a0004c0025t0007g0259 a0004c0025t0007g0294 a0004c0043t0003g0119 a0005c0019t0001g0060 a0005c0019t0001g0083 a0006c0021t0001g0020 a0006c0021t0006g0019 a0006c0048t0006g0108 a0007c0028t0004g0017 a0008c0045t0003g0072 a0009c0024t0001g0118 a0011c0038t0001g0245 a0011c0039t0002g0264 a0014c0040t0004g0270 a0017c0050t0001g0051 a0022c0042t0001g0084	111	294	0.3776	37	c.515 others(54): Show c.515-7734_515-7733insTTGCGCCCCGGGACGCCGGCCCCGCGTG AGAGTCGGG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10						chr16	TogoVar
LMF1_chr16_848634_975984	918833	G G	GGCGTCCC others(30): Show GGCGTCCCGGGGCGCAACCCGACTCTCACGCGGGGCCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0117 a0009c0024t0001g0117	1	294	0.0034	37	c.515 others(54): Show c.515-7755_515-7754insTGGCCCCGCGTGAGAGTCGGGTTGCGCC CCGGGACGC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10						chr16	TogoVar
LMF1_chr16_848634_975984	918860	A A	ACGCGGGG others(30): Show ACGCGGGGCCGGCGTCCCGGGGCGCACCCCGACTCTCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01258.hp2 others(10): Show HG00741.hp2 HG01071.hp1 HG01258.hp2 HG01978.hp1 HG02300.hp1 HG02683.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG04204.hp1 NA18906.hp1 NA20805.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0003 a0001c0010 a0001c0033 others(5): Show a0001c0003 a0001c0010 a0001c0033 a0002c0007 a0002c0035 a0005c0034 a0007c0046 a0008c0036	a0001c0003t0001 a0001c0010t0001 a0001c0033t0001 others(5): Show a0001c0003t0001 a0001c0010t0001 a0001c0033t0001 a0002c0007t0001 a0002c0035t0001 a0005c0034t0015 a0007c0046t0004 a0008c0036t0003	a0001c0003t0001g0102 a0001c0010t0001g0115 a0001c0010t0001g0271 others(10): Show a0001c0003t0001g0102 a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 a0001c0010t0001g0276 a0001c0010t0001g0279 a0001c0033t0001g0275 a0002c0007t0001g0120 a0002c0035t0001g0280 a0005c0034t0015g0274 a0007c0046t0004g0036 a0008c0036t0003g0277	13	294	0.0442	37	c.515 others(54): Show c.515-7782_515-7781insGGAGAGTCGGGGTGCGCCCCGGGACGCC GGCCCCGCG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10						chr16	TogoVar
LMLN_chr3_197955217_198048720	198014389	T T	TCCTTCAG others(30): Show TCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	258	0.0039	37	c.132 others(56): Show c.1320-4750_1320-4714dupTTCAGAGCCCCCTAACTAGTCTGACT TCTCTCCACCC		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198014992	C C	CCTCCTAA others(30): Show CCTCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0133 a0001c0001t0027g0133	1	258	0.0039	37	c.132 others(56): Show c.1320-4260_1320-4259insTCCTAACTAGTCTGACTTCTCTGTAC CCTTCAGAGTC		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198015068	T T	TCCTAACT others(30): Show TCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGTCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0006 a0001c0001t0051g0006	1	258	0.0039	37	c.132 others(56): Show c.1320-4158_1320-4122dupCTTCAGAGTCCCCTAACTAGTCTGAC TTCTCTGTACC		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198015253	C C	CCCTAACT others(30): Show CCCTAACTAGTCTGACTTCTCTGTACCTTTCAGAGCCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0133 a0001c0001t0027g0133	1	258	0.0039	37	c.132 others(56): Show c.1320-3979_1320-3978insGTACCTTTCAGAGCCTCCTAACTAGT CTGACTTCTCT		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198015283	C C	CAGAGCCC others(30): Show CAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	258	0.0039	37	c.132 others(56): Show c.1320-3934_1320-3933insTAGAGCCCCCTAACTAGTCTGACTTC TCTCCACCCTT		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198015542	C C	CAGAGCCC others(30): Show CAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0041 a0002c0002t0009g0041	1	258	0.0039	37	c.132 others(56): Show c.1320-3675_1320-3674insTAGAGCCCCCTAACTAGTCTGACTTC TCTCCACCCTT		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMNB1_chr5_126772136_126842020	126800981	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATAATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	374	0.0027	37	c.360 others(54): Show c.360-3795_360-3794insTATATATATATATATATATATATATATA ATTTTTTTT		LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10						chr5	TogoVar
LMNB2_chr19_2423166_2461959	2454337	C C	CAAGCACT others(30): Show CAAGCACTGATCTTCCTTCTACCTCCCTGAAGGCACCA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	356	0.0028	37	c.264 others(54): Show c.264+2296_264+2332dupTGGTGCCTTCAGGGAGGTAGAAGGAAGA TCAGTGCTT		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	1/11						chr19	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAAAAGAA others(30): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	400	0.0025	37	c.-20 others(48): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTT		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding					1795		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69105638	C C	CTACTGCA others(30): Show CTACTGCAGCTAATAAAAAATTTTAGATAGCAATTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0251 a0001c0001t0072g0251	1	428	0.0023	37	c.34 others(48): Show c.3420_*3456dupAACAATTGCTATCTAAAATTTTTTATTAGCTGCA GTA		LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding					426		chr3	TogoVar
LMTK3_chr19_48480271_48516835	48483248	C C	CCCCTCCT others(30): Show CCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCTCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0001 a0000c0001t0001	a0000c0001t0001g0114 a0000c0001t0001g0114	1	314	0.0032	37	c.25 others(48): Show c.2524_*2525insCCTGGAGGCCTGGACTCCCGGGTCTGAGGGAGGA GGG		LMTK3	ENSG00000142235.13	transcript	ENST00000600059.6	protein_coding					2022		chr19	TogoVar
LNX1_chr4_53454301_53596486	53506856	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp2 HG00673.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0035 a0001c0001t0001g0049	2	356	0.0056	37	c.775 others(52): Show c.775+460_775+461insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	4/10						chr4	TogoVar

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Search Results (Total: 3614 hits)