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
KHSRP_chr19_6408102_6429811	6428455	T T	TGAGAAAT others(32): Show TGAGAAATGAAAATATATATGTATACATATATATAGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	1	386	0.0026	39	c.-37 others(50): Show c.-3793_-3755dupTATACTATATATATGTATACATATATATTTTCAT TTCTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		3645		chr19	TogoVar
KIAA0586_chr14_58422719_58556297	58484890	T T	TTATATAT others(32): Show TTATATATATATATTTATATATATTTTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	300	0.0033	39	c.314 others(58): Show c.3145-2104_3145-2103insTTATATATATTTTATATATATATATA TATATATATATAT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(32): Show CCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0168 a0001c0001t0168	a0001c0001t0168g0342 a0001c0001t0168g0342	1	398	0.0025	39	c.64+ others(56): Show c.64+11864_64+11865insTGGAGAGGGATCTCTCGGGTGAGTGTTT GGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(32): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0249	1	398	0.0025	39	c.64+ others(56): Show c.64+11864_64+11865insTGGAGAGGGATCTCTCAGGTGAGTGTTT GGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229080	A A	ACCCCCAC others(32): Show ACCCCCACCACCACCACTCACCCGAAAGATCCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0311 a0001c0001t0125g0311	1	398	0.0025	39	c.64+ others(56): Show c.64+11559_64+11560insATGGGGAGGGATCTTTCGGGTGAGTGGT GGTGGTGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229080	A A	ACCCCCGC others(32): Show ACCCCCGCCACCACCACTCACCCGAAAGATCCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	398	0.0025	39	c.64+ others(56): Show c.64+11559_64+11560insATGGGGAGGGATCTTTCGGGTGAGTGGT GGTGGCGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229080	A A	ACCCCCGC others(32): Show ACCCCCGCCACCACCACTCACCCTAAAGATCCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0371 a0001c0001t0041g0371	1	398	0.0025	39	c.64+ others(56): Show c.64+11559_64+11560insATGGGGAGGGATCTTTAGGGTGAGTGGT GGTGGCGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1522_chr1_32736830_32779970	32751534	C C	CTGGGATG others(32): Show CTGGGATGGTGAACACGGGGTGCAGGGGAGCCCTGGGGTG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	348	0.0029	39	c.235 others(56): Show c.235+9348_235+9386dupGGATGGTGAACACGGGGTGCAGGGGAGC CCTGGGGTGTG	KIAA1522	ENSG00000162522.11	transcript	ENST00000401073.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0155 a0001c0004t0001g0155	1	312	0.0032	39	c.183 others(58): Show c.1832-5301_1832-5300insATATATATATATATATATATATTTTT TTTTTTTTTTTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIF26B_chr1_245149985_245714432	245556273	T T	TCTTCTTC others(32): Show TCTTCTTCTTCTTCCTCCTCCTTCCTCCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp1 HG02698.hp2 HG01106.hp2 HG01169.hp1 HG02698.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0014 a0001c0005t0010 a0001c0005t0014	a0001c0005t0010g0028 a0001c0005t0010g0033 a0001c0005t0014g0069 a0001c0005t0010g0028 a0001c0005t0010g0033 a0001c0005t0014g0069	3	160	0.0188	39	c.135 others(60): Show c.1350+15342_1350+15380dupCCTTCCTCCCTCCTCCTCCTCCTT CTTCTTCTTCCTCCT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848180	T T	TATATCTG others(32): Show TATATCTGATATATCTGATATATCATATCTGATATATCAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02165.hp2 NA18956.hp1 others(4): Show HG01928.hp1 HG02165.hp2 NA18956.hp1 NA18970.hp2 NA18979.hp2 NA18997.hp1 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0241 a0001c0002t0001g0243 others(4): Show a0001c0002t0001g0088 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0254 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330	7	346	0.0202	39	c.355 others(58): Show c.3556+1918_3556+1919insCTGATATATCAGATATGATATATCAG ATATATCAGATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF27_chr9_83829099_83926432	83848187	T T	TATATCTG others(32): Show TATATCTGATATATCATATATCTGATATATCTGATATATC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp1 NA19064.hp1 HG02647.hp2 HG03041.hp1 NA19064.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0021 a0001c0002 a0008c0021	a0001c0002t0001 a0001c0002t0009 a0008c0021t0001 a0001c0002t0001 a0001c0002t0009 a0008c0021t0001	a0001c0002t0001g0202 a0001c0002t0009g0336 a0008c0021t0001g0224 a0001c0002t0001g0202 a0001c0002t0009g0336 a0008c0021t0001g0224	3	346	0.0087	39	c.355 others(58): Show c.3556+1911_3556+1912insGATATATCAGATATATCAGATATATG ATATATCAGATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF27_chr9_83829099_83926432	83848210	T T	TATATCTG others(32): Show TATATCTGATATATCATATATCTGATATATCTGATATATC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0200 a0004c0005t0001g0200	1	346	0.0029	39	c.355 others(58): Show c.3556+1888_3556+1889insGATATATCAGATATATCAGATATATG ATATATCAGATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF5B_chr10_32004015_32061425	32006436	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	364	0.0028	39	c.51 others(50): Show c.5100_*5101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	KIF5B	ENSG00000170759.11	transcript	ENST00000302418.5	protein_coding		2578		chr10	TogoVar
KIF6_chr6_39324990_39730408	39346132	C C	CCTCTCTC others(32): Show CCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0151 a0001c0001t0013g0151	1	174	0.0058	39	c.223 others(56): Show c.2231+343_2232-343insAGAGAGAGAGAGAGAGAGAGAGAGAGAG GAGAGAGAGAG	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22			chr6	TogoVar
KIF6_chr6_39324990_39730408	39728565	A A	AGGTGCCC others(32): Show AGGTGCCCACCACCACACACAGCTAATTTTGTATTTTTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0050 a0003c0003t0001g0050	1	174	0.0058	39	c.-32 others(50): Show c.-3256_-3255insCTAAAAATACAAAATTAGCTGTGTGTGGTGGTGG GCACC	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding		3158		chr6	TogoVar
KIFAP3_chr1_169916329_170079695	169973122	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	372	0.0027	39	c.189 others(56): Show c.1898-525_1898-524insTATATATATATATATATATATATATATA TATATATATAT	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KLF12_chr13_73681089_74139404	73810982	C C	CTTTCTTT others(32): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	120	0.0083	39	c.806 others(56): Show c.806+2169_806+2170insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAA	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	5/7			chr13	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00597.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0142 a0001c0001t0001g0147 a0001c0001t0002g0142	2	208	0.0096	39	c.22 others(50): Show c.2297_*2298insAAAAAAAATATATATATATATATATATATATATA TATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHL23_chr2_169728832_169756878	169738839	C C	CCCCCCTC others(32): Show CCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0060 a0001c0001t0024g0060	1	400	0.0025	39	c.121 others(58): Show c.1214-2542_1214-2541insCTCCCCCCTCCTCCCCCTCCCCCCTC CTCCCCCTTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169738988	C C	CTCCCCCC others(32): Show CTCCCCCCTCCCCCTCCTCCCCCTCCCTCTCCTCCCCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	400	0.0025	39	c.121 others(58): Show c.1214-2397_1214-2396insTCCCCCCTCCCCCTCCTCCCCCTCCC TCTCCTCCCCCTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3			chr2	TogoVar
KLHL31_chr6_53642916_53670756	53665964	A A	AAAAGAAA others(32): Show AAAAGAAAAGAAAAGAAAAGAAAGAAAGAAGGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0007 a0001c0002t0020g0007	1	420	0.0024	39	c.-39 others(48): Show c.-398_-397insCTTTCTTTCCTTCTTTCTTTCTTTTCTTTTCTTTTC TTT	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		209		chr6	TogoVar
KLHL36_chr16_84643511_84672686	84644147	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02630.hp1 HG02809.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0084 a0001c0002t0009 a0001c0002t0084	a0001c0002t0009g0015 a0001c0002t0084g0099 a0001c0002t0009g0015 a0001c0002t0084g0099	3	448	0.0067	39	c.-45 others(50): Show c.-4519_-4518insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding		4363		chr16	TogoVar
KLHL36_chr16_84643511_84672686	84644151	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02886.hp2 HG02258.hp1 HG02280.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0017 a0001c0002 a0001c0006 a0001c0017	a0001c0002t0009 a0001c0006t0006 a0001c0017t0106 a0001c0002t0009 a0001c0006t0006 a0001c0017t0106	a0001c0002t0009g0100 a0001c0006t0006g0102 a0001c0017t0106g0207 a0001c0002t0009g0100 a0001c0006t0006g0102 a0001c0017t0106g0207	3	448	0.0067	39	c.-45 others(50): Show c.-4515_-4514insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding		4359		chr16	TogoVar
KLHL36_chr16_84643511_84672686	84644155	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0097 a0001c0002t0032g0097	1	448	0.0022	39	c.-45 others(50): Show c.-4511_-4510insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding		4355		chr16	TogoVar
KLK7_chr19_50971468_50988917	50975655	G G	GGATTCCT others(32): Show GGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0123 a0001c0001t0013g0123	1	384	0.0026	39	c.18 others(50): Show c.1880_*1881insTAGACCCCCCCAGCCCCTCCTCCCTCAGACCCAG GAATC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding		812		chr19	TogoVar
KLKB1_chr4_186222507_186263471	186239634	G G	GAGTTATA others(32): Show GAGTTATAGGTACAGTGATATAGGACAGTGATACTGTTAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03098.hp1 HG01433.hp1 HG03098.hp1	a0002 a0013 a0002 a0013	a0002c0004 a0013c0019 a0002c0004 a0013c0019	a0002c0004t0001 a0013c0019t0001 a0002c0004t0001 a0013c0019t0001	a0002c0004t0001g0251 a0013c0019t0001g0252 a0002c0004t0001g0251 a0013c0019t0001g0252	2	432	0.0046	39	c.598 others(56): Show c.598+1279_598+1317dupTACAGTGATATAGGACAGTGATACTGTT ATAGTTATAGG	KLKB1	ENSG00000164344.17	transcript	ENST00000264690.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
KRBA1_chr7_149709951_149739575	149738211	A A	AAATATAT others(32): Show AAATATATATATATATATATATATCTATATCTATCTATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0032 a0006c0008t0003g0032	1	414	0.0024	39	c.41 others(50): Show c.4164_*4165insAATATATATATATATATATATATCTATATCTATC TATCT	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding		3637		chr7	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19078.hp2 HG02027.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0018 a0001c0002t0002 a0001c0002t0018	a0001c0002t0002g0214 a0001c0002t0018g0213 a0001c0002t0002g0214 a0001c0002t0018g0213	2	388	0.0052	39	c.-21 others(54): Show c.-21+962_-21+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KRTAP10-1_chr21_44533981_44545195	44534309	T T	TGGGGCAG others(32): Show TGGGGCAGGGCTGGTGTGTGAGGGGTGGGGCTTGTGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0000 a0001c0025t0001g0000	1	438	0.0023	39	c.49 others(50): Show c.4992_*4993insCTCACACAAGCCCCACCCCTCACACACCAGCCCT GCCCC	KRTAP10-1	ENSG00000215455.4	transcript	ENST00000400375.1	protein_coding		4671		chr21	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310452	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAAGAAAGAAAGAAAGAGAAAGAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	421	0.0024	39	c.-12 others(50): Show c.-1200_-1199insCATTTCTTTCTCTTTCTTTCTTTCTTTTCTTTCT TTCTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1144		chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583918	G G	GTGTGTGT others(32): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	429	0.0023	39	c.49 others(48): Show c.494_*495insACACACACACACACACACACACACACACACACACAC ACA	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		423		chr11	TogoVar
LAMA1_chr18_6936742_7122797	6952916	G G	GGAGCCAT others(32): Show GGAGCCATGTCTGCCTGTGTCCAGTGGATCCACACCATGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp1 HG03516.hp2 HG02615.hp1 HG03486.hp1 HG03516.hp2	a0041 a0068 a0116 a0041 a0068 a0116	a0041c0208 a0068c0149 a0116c0045 a0041c0208 a0068c0149 a0116c0045	a0041c0208t0003 a0068c0149t0002 a0116c0045t0003 a0041c0208t0003 a0068c0149t0002 a0116c0045t0003	a0041c0208t0003g0126 a0068c0149t0002g0011 a0116c0045t0003g0130 a0041c0208t0003g0126 a0068c0149t0002g0011 a0116c0045t0003g0130	3	278	0.0108	39	c.820 others(58): Show c.8208-1946_8208-1945insTCATGGTGTGGATCCACTGGACACAG GCAGACATGGCTC	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	6953110	A A	AGGAGCCA others(32): Show AGGAGCCATGTCTGCCTGTGTCCAGCGGATCCACGCCATG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG01074.hp1 HG01243.hp2	a0013 a0053 a0013 a0053	a0013c0173 a0053c0126 a0013c0173 a0053c0126	a0013c0173t0001 a0053c0126t0002 a0013c0173t0001 a0053c0126t0002	a0013c0173t0001g0261 a0053c0126t0002g0095 a0013c0173t0001g0261 a0053c0126t0002g0095	2	278	0.0072	39	c.820 others(58): Show c.8208-2178_8208-2140dupCATGGCGTGGATCCGCTGGACACAGG CAGACATGGCTCC	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	6953166	G G	GTGTCCAG others(32): Show GTGTCCAGCGGATCCACGCCATGGGAGCCATGTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG02257.hp1 others(6): Show HG01106.hp1 HG01884.hp2 HG02257.hp1 HG02451.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG03130.hp2	a0003 a0004 a0007 others(5): Show a0003 a0004 a0007 a0012 a0042 a0097 a0103 a0121	a0003c0105 a0004c0011 a0007c0132 others(5): Show a0003c0105 a0004c0011 a0007c0132 a0012c0128 a0042c0209 a0097c0178 a0103c0033 a0121c0049	a0003c0105t0001 a0004c0011t0001 a0007c0132t0001 others(5): Show a0003c0105t0001 a0004c0011t0001 a0007c0132t0001 a0012c0128t0001 a0042c0209t0001 a0097c0178t0002 a0103c0033t0002 a0121c0049t0001	a0003c0105t0001g0262 a0004c0011t0001g0193 a0004c0011t0001g0265 others(6): Show a0003c0105t0001g0262 a0004c0011t0001g0193 a0004c0011t0001g0265 a0007c0132t0001g0272 a0012c0128t0001g0180 a0042c0209t0001g0195 a0097c0178t0002g0090 a0103c0033t0002g0115 a0121c0049t0001g0206	9	278	0.0324	39	c.820 others(58): Show c.8207+2186_8207+2187insTGGGCAGACATGGCTCCCATGGCGTG GATCCGCTGGACA	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	6953222	A A	ACCATGGG others(32): Show ACCATGGGAGCCATGTCTGCCCGTGTCCGGCAGATCCACG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG02055.hp2 others(4): Show HG01175.hp2 HG01891.hp2 HG02055.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 NA20300.hp1	a0012 a0035 a0045 others(4): Show a0012 a0035 a0045 a0055 a0071 a0118 a0120	a0012c0141 a0035c0211 a0045c0055 others(4): Show a0012c0141 a0035c0211 a0045c0055 a0055c0168 a0071c0166 a0118c0036 a0120c0050	a0012c0141t0001 a0035c0211t0001 a0045c0055t0001 others(4): Show a0012c0141t0001 a0035c0211t0001 a0045c0055t0001 a0055c0168t0001 a0071c0166t0001 a0118c0036t0003 a0120c0050t0001	a0012c0141t0001g0270 a0035c0211t0001g0277 a0045c0055t0001g0171 others(4): Show a0012c0141t0001g0270 a0035c0211t0001g0277 a0045c0055t0001g0171 a0055c0168t0001g0239 a0071c0166t0001g0172 a0118c0036t0003g0127 a0120c0050t0001g0254	7	278	0.0252	39	c.820 others(58): Show c.8207+2130_8207+2131insCGTGGATCTGCCGGACACGGGCAGAC ATGGCTCCCATGG	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7021788	A A	AAATATAA others(32): Show AAATATAATAATATATTATATTATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02080.hp2 NA19065.hp2 HG00741.hp1 HG02080.hp2 NA19065.hp2	a0003 a0096 a0003 a0096	a0003c0014 a0003c0015 a0096c0193 a0003c0014 a0003c0015 a0096c0193	a0003c0014t0002 a0003c0015t0002 a0096c0193t0001 a0003c0014t0002 a0003c0015t0002 a0096c0193t0001	a0003c0014t0002g0018 a0003c0015t0002g0025 a0096c0193t0001g0216 a0003c0014t0002g0018 a0003c0015t0002g0025 a0096c0193t0001g0216	3	278	0.0108	39	c.270 others(58): Show c.2701+1337_2701+1375dupATATAATATATATTATATAATATAAT ATATTATTATATT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	19/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7021809	T T	TATATAAT others(32): Show TATATAATATATATTATATAATATAATAATATATTATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0014 a0006c0008t0002g0014	1	278	0.0036	39	c.270 others(58): Show c.2701+1354_2701+1355insTATATAATATATTATTATATTATATA ATATATATTATAT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	19/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	129311956	G G	GAAGACAT others(32): Show GAAGACATTAGGATATTATAGATTTGGCAGAGAGAACAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp2 HG03041.hp1 others(4): Show HG02818.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG06807.hp1 NA20129.hp1	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0022 a0031	a0002c0004 a0002c0035 a0003c0020 others(3): Show a0002c0004 a0002c0035 a0003c0020 a0006c0007 a0022c0019 a0031c0037	a0002c0004t0001 a0002c0004t0007 a0002c0035t0006 others(4): Show a0002c0004t0001 a0002c0004t0007 a0002c0035t0006 a0003c0020t0008 a0006c0007t0002 a0022c0019t0002 a0031c0037t0001	a0002c0004t0001g0033 a0002c0004t0007g0024 a0002c0035t0006g0028 others(4): Show a0002c0004t0001g0033 a0002c0004t0007g0024 a0002c0035t0006g0028 a0003c0020t0008g0027 a0006c0007t0002g0081 a0022c0019t0002g0012 a0031c0037t0001g0063	7	88	0.0796	39	c.317 others(56): Show c.3175-904_3175-866dupAAGACATTAGGATATTATAGATTTGGCA GAGAGAACAGA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62334753	C C	CAGGGCTC others(32): Show CAGGGCTCAGGGCTCAGGGCTCAGGGCGAGGGCGAGGGCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0001 a0019c0022t0001	a0019c0022t0001g0155 a0019c0022t0001g0156 a0019c0022t0001g0155 a0019c0022t0001g0156	2	186	0.0108	39	c.248 others(56): Show c.2483-133_2483-132insCGCCCTCGCCCTCGCCCTGAGCCCTGAG CCCTGAGCCCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(32): Show GTGTGTGTGTGTATATATATATATATATATACTGTATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00741.hp2 others(28): Show HG00544.hp1 HG00558.hp2 HG00741.hp2 HG01192.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02132.hp2 HG04115.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18977.hp2 NA18979.hp2 NA18990.hp2 NA18993.hp2 NA19002.hp2 NA19009.hp1 NA19058.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0002 a0005c0010 a0008c0029 a0001c0002 a0005c0010 a0008c0029	a0001c0002t0002 a0001c0002t0020 a0005c0010t0002 others(1): Show a0001c0002t0002 a0001c0002t0020 a0005c0010t0002 a0008c0029t0002	a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 others(28): Show a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0109 a0001c0002t0020g0100 a0005c0010t0002g0056 a0005c0010t0002g0057 a0005c0010t0002g0091 a0008c0029t0002g0075	31	308	0.1007	39	c.419 others(58): Show c.419-25551_419-25550insGTGTGTGTGTATATATATATATATAT ATACTGTATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC3_chr9_131004174_131099473	131096449	A A	ACGGGAGG others(32): Show ACGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0013 a0013	a0013c0134 a0013c0134	a0013c0134t0001 a0013c0134t0001	a0013c0134t0001g0192 a0013c0134t0001g0192	1	360	0.0028	39	c.46 others(50): Show c.4662_*4663insCGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGC GGGAG	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding		1977		chr9	TogoVar
LAMC3_chr9_131004174_131099473	131096449	A A	AGGGGAGG others(32): Show AGGGGAGGGGAGAGGCGGGAGGGGAGGGGCGAGGCGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18964.hp2 NA18971.hp2 others(1): Show NA18953.hp2 NA18964.hp2 NA18971.hp2 NA19058.hp2	a0026 a0041 a0051 a0026 a0041 a0051	a0026c0141 a0041c0165 a0051c0039 a0026c0141 a0041c0165 a0051c0039	a0026c0141t0001 a0041c0165t0001 a0051c0039t0001 a0026c0141t0001 a0041c0165t0001 a0051c0039t0001	a0026c0141t0001g0158 a0041c0165t0001g0269 a0051c0039t0001g0227 others(1): Show a0026c0141t0001g0158 a0041c0165t0001g0269 a0051c0039t0001g0227 a0051c0039t0001g0239	4	360	0.0111	39	c.46 others(50): Show c.4662_*4663insGGGGAGGGGAGAGGCGGGAGGGGAGGGGCGAGGC GGGAG	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding		1977		chr9	TogoVar
LAMC3_chr9_131004174_131099473	131096449	A A	AGGGGAGG others(32): Show AGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(114): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18962.hp1 NA18965.hp1 NA18969.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19012.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(36): Show a0001 a0003 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0019 a0020 a0024 a0025 a0026 a0028 a0029 a0032 a0034 a0036 a0037 a0039 a0041 a0042 a0048 a0049 a0052 a0055 a0061 a0062 a0065 a0066 a0067 a0072 a0085 a0087 a0088 a0102	a0001c0004 a0001c0011 a0001c0013 others(69): Show a0001c0004 a0001c0011 a0001c0013 a0001c0015 a0001c0105 a0003c0002 a0003c0041 a0003c0092 a0003c0108 a0005c0001 a0005c0036 a0006c0023 a0008c0026 a0008c0028 a0008c0055 a0008c0171 a0008c0189 a0010c0003 a0011c0017 a0011c0053 a0011c0181 a0011c0184 a0011c0202 a0011c0204 a0012c0127 a0013c0043 a0013c0111 a0013c0112 a0013c0114 a0014c0014 a0014c0103 a0014c0139 a0015c0216 a0019c0009 a0019c0060 a0019c0076 a0020c0018 a0020c0038 a0024c0121 a0025c0144 a0026c0050 a0026c0143 a0028c0025 a0029c0037 a0029c0214 a0032c0094 a0032c0101 a0034c0083 a0036c0156 a0036c0158 a0037c0057 a0039c0173 a0039c0174 a0041c0166 a0042c0159 a0042c0168 a0048c0117 a0049c0137 a0049c0148 a0052c0082 a0052c0218 a0055c0207 a0061c0155 a0062c0203 a0065c0188 a0066c0201 a0067c0194 a0072c0197 a0085c0065 a0087c0072 a0088c0077 a0102c0152	a0001c0004t0001 a0001c0011t0001 a0001c0013t0001 others(69): Show a0001c0004t0001 a0001c0011t0001 a0001c0013t0001 a0001c0015t0001 a0001c0105t0001 a0003c0002t0001 a0003c0041t0001 a0003c0092t0001 a0003c0108t0001 a0005c0001t0001 a0005c0036t0013 a0006c0023t0001 a0008c0026t0001 a0008c0028t0001 a0008c0055t0001 a0008c0171t0001 a0008c0189t0001 a0010c0003t0001 a0011c0017t0001 a0011c0053t0001 a0011c0181t0001 a0011c0184t0001 a0011c0202t0001 a0011c0204t0001 a0012c0127t0001 a0013c0043t0001 a0013c0111t0001 a0013c0112t0036 a0013c0114t0041 a0014c0014t0001 a0014c0103t0001 a0014c0139t0001 a0015c0216t0014 a0019c0009t0001 a0019c0060t0001 a0019c0076t0001 a0020c0018t0001 a0020c0038t0001 a0024c0121t0009 a0025c0144t0001 a0026c0050t0001 a0026c0143t0001 a0028c0025t0001 a0029c0037t0001 a0029c0214t0001 a0032c0094t0001 a0032c0101t0001 a0034c0083t0001 a0036c0156t0001 a0036c0158t0001 a0037c0057t0001 a0039c0173t0001 a0039c0174t0001 a0041c0166t0001 a0042c0159t0033 a0042c0168t0001 a0048c0117t0001 a0049c0137t0001 a0049c0148t0001 a0052c0082t0009 a0052c0218t0009 a0055c0207t0001 a0061c0155t0001 a0062c0203t0001 a0065c0188t0039 a0066c0201t0014 a0067c0194t0009 a0072c0197t0001 a0085c0065t0001 a0087c0072t0001 a0088c0077t0013 a0102c0152t0032	a0001c0004t0001g0062 a0001c0004t0001g0105 a0001c0004t0001g0107 others(114): Show a0001c0004t0001g0062 a0001c0004t0001g0105 a0001c0004t0001g0107 a0001c0004t0001g0157 a0001c0004t0001g0344 a0001c0011t0001g0213 a0001c0011t0001g0216 a0001c0011t0001g0217 a0001c0013t0001g0055 a0001c0013t0001g0072 a0001c0013t0001g0125 a0001c0015t0001g0124 a0001c0015t0001g0174 a0001c0015t0001g0180 a0001c0015t0001g0184 a0001c0105t0001g0147 a0003c0002t0001g0050 a0003c0002t0001g0075 a0003c0002t0001g0079 a0003c0002t0001g0082 a0003c0002t0001g0154 a0003c0002t0001g0164 a0003c0002t0001g0178 a0003c0002t0001g0191 a0003c0002t0001g0232 a0003c0002t0001g0237 a0003c0041t0001g0016 a0003c0092t0001g0165 a0003c0108t0001g0061 a0005c0001t0001g0086 a0005c0001t0001g0118 a0005c0001t0001g0129 a0005c0001t0001g0245 a0005c0001t0001g0246 a0005c0001t0001g0249 a0005c0001t0001g0250 a0005c0001t0001g0253 a0005c0001t0001g0254 a0005c0001t0001g0255 a0005c0001t0001g0256 a0005c0001t0001g0260 a0005c0036t0013g0121 a0006c0023t0001g0007 a0008c0026t0001g0307 a0008c0028t0001g0313 a0008c0028t0001g0314 a0008c0028t0001g0315 a0008c0055t0001g0098 a0008c0171t0001g0284 a0008c0189t0001g0322 a0010c0003t0001g0168 a0011c0017t0001g0301 a0011c0053t0001g0288 a0011c0053t0001g0292 a0011c0181t0001g0280 a0011c0184t0001g0339 a0011c0202t0001g0327 a0011c0204t0001g0334 a0012c0127t0001g0134 a0013c0043t0001g0166 a0013c0111t0001g0042 a0013c0112t0036g0181 a0013c0114t0041g0349 a0014c0014t0001g0143 a0014c0014t0001g0189 a0014c0103t0001g0163 a0014c0139t0001g0146 a0015c0216t0014g0048 a0019c0009t0001g0248 a0019c0009t0001g0257 a0019c0009t0001g0258 a0019c0009t0001g0259 a0019c0060t0001g0251 a0019c0076t0001g0053 a0020c0018t0001g0028 a0020c0018t0001g0029 a0020c0018t0001g0030 a0020c0018t0001g0031 a0020c0038t0001g0236 a0020c0038t0001g0240 a0024c0121t0009g0008 a0025c0144t0001g0084 a0026c0050t0001g0135 a0026c0050t0001g0148 a0026c0143t0001g0169 a0028c0025t0001g0275 a0028c0025t0001g0276 a0029c0037t0001g0006 a0029c0037t0001g0013 a0029c0214t0001g0046 a0032c0094t0001g0139 a0032c0101t0001g0064 a0034c0083t0001g0009 a0036c0156t0001g0052 a0036c0158t0001g0116 a0037c0057t0001g0337 a0039c0173t0001g0100 a0039c0174t0001g0324 a0041c0166t0001g0264 a0042c0159t0033g0298 a0042c0168t0001g0302 a0048c0117t0001g0200 a0049c0137t0001g0171 a0049c0148t0001g0058 a0052c0082t0009g0020 a0052c0218t0009g0049 a0055c0207t0001g0356 a0061c0155t0001g0088 a0062c0203t0001g0282 a0065c0188t0039g0290 a0066c0201t0014g0274 a0067c0194t0009g0343 a0072c0197t0001g0323 a0085c0065t0001g0225 a0087c0072t0001g0119 a0088c0077t0013g0117 a0102c0152t0032g0176	117	360	0.3250	39	c.46 others(50): Show c.4662_*4663insGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGC GGGAG	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding		1977		chr9	TogoVar
LAMC3_chr9_131004174_131099473	131096449	A A	AGGGGAGG others(32): Show AGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 NA19090.hp2 HG03669.hp1 NA19090.hp2	a0003 a0008 a0003 a0008	a0003c0002 a0008c0026 a0003c0002 a0008c0026	a0003c0002t0019 a0008c0026t0019 a0003c0002t0019 a0008c0026t0019	a0003c0002t0019g0179 a0008c0026t0019g0101 a0003c0002t0019g0179 a0008c0026t0019g0101	2	360	0.0056	39	c.46 others(50): Show c.4662_*4663insGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGC GGTAG	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding		1977		chr9	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0198 a0001c0003t0003g0198	1	300	0.0033	39	c.218 others(54): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATGTATGTA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12			chr4	TogoVar
LAPTM4A_chr2_20027650_20056628	20046732	T T	TATATATA others(32): Show TATATATAAATATATATTATATAAATATATATATAATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	424	0.0024	39	c.111 others(56): Show c.111+4639_111+4677dupTATATTATATATATATTTATATAATATA TATTTATATAT	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6			chr2	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(32): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	380	0.0026	39	c.603 others(56): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	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(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	336	0.0030	39	c.988 others(56): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1_chr5_154750377_154822605	154796055	A A	ATTATATA others(32): Show ATTATATATTTATATATAGTATATATATTATATATATATT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	304	0.0033	39	c.137 others(56): Show c.1377+773_1377+811dupATTTTATATATTTATATATAGTATATAT ATTATATATAT	LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr5	TogoVar

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