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
LOC127933115_chrX_23778278_23788367	23780502	A A	ATATATAT others(34): Show ATATATATATATAATATATATATATAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	334	0.0030	41	c.-27 others(52): Show c.-2776_-2775insTATATATATATAATATATATATATAATATATATA TATATAT	LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding		2775		chrX	TogoVar
LOC127933115_chrX_23778278_23788367	23780502	A A	ATATATAT others(34): Show ATATATATATTATATATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	334	0.0030	41	c.-27 others(52): Show c.-2776_-2775insTATATATATTATATATATATATATATAATATATA TATATAT	LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding		2775		chrX	TogoVar
LOC128462377_chr16_89312046_89423292	89323584	C C	CAGGGCAG others(34): Show CAGGGCAGGGGGGCAGAGCCCAGGGCAGGGGGGGCTGAGCCG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0158 a0001c0001t0000g0158	1	366	0.0027	41	c.10- others(56): Show c.10-6510_10-6509insCGGCTCAGCCCCCCCTGCCCTGGGCTCTGC CCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89415829	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0019 a0001c0001t0000g0019	1	366	0.0027	41	c.9+2 others(54): Show c.9+2454_9+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC647264_chr13_63827361_63838053	63833748	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA19055.hp1 HG02293.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	442	0.0045	41	c.-75 others(50): Show c.-756_-755insTACATATATATATATATATATATATATATATATATA TATAT	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding		696		chr13	TogoVar
LONP1_chr19_5686834_5725146	5702497	C C	CGCCCGGC others(34): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02027.hp2 NA18943.hp1 others(3): Show HG01346.hp1 HG02027.hp2 NA18943.hp1 NA18946.hp1 NA18999.hp2 NA19010.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0014 a0003c0003 a0008c0014	a0003c0003t0001 a0008c0014t0001 a0003c0003t0001 a0008c0014t0001	a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 others(3): Show a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0001g0344 a0003c0003t0001g0345 a0008c0014t0001g0014	6	386	0.0155	41	c.136 others(60): Show c.1368-1571_1368-1570insAGAGGCACCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGC	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	8/17			chr19	TogoVar
LPP_chr3_188149157_188895671	188602164	A A	AATATATA others(34): Show AATATATATATATAATATATATATAATATATATATAATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0027 a0002c0003t0013g0027	1	76	0.0132	41	c.430 others(58): Show c.430-6985_430-6984insAATATATATATAATATATATATAATATA TATATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188843786	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	76	0.0132	41	c.141 others(62): Show c.1411-22402_1411-22401insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH1_chr13_46548170_46749898	46573866	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	274	0.0037	41	c.307 others(60): Show c.307+20164_307+20165insATATATATATATATATATATATATAT ATATATATATATTTT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH3_chr3_197786254_197893436	197817334	G G	GTGTGTGT others(34): Show GTGTGTGTATTTTGTGTGTGTGTGCGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0061 a0001c0004t0061	a0001c0004t0061g0004 a0001c0004t0061g0004	1	292	0.0034	41	c.534 others(54): Show c.534+39_534+40insATTTTGTGTGTGTGTGCGTGTGTGTGTGTGTG TCTGTGTGT	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCOL1_chr12_132598151_132615582	132598232	C C	CCCCTCCT others(34): Show CCCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03098.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0029 a0003c0003t0001g0006 a0002c0002t0002g0029 a0003c0003t0001g0006	3	390	0.0077	41	c.51 others(52): Show c.5169_*5170insCGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAG AGGAGGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4918		chr12	TogoVar
LRFN2_chr6_40386591_40592364	40577103	C C	CTCTTCTC others(34): Show CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	228	0.0044	41	c.-19 others(58): Show c.-19+9837_-19+9838insAGAAGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAGAGAAGA	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar
LRFN2_chr6_40386591_40592364	40577108	C C	CTCTTCTC others(34): Show CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02027.hp1 HG02486.hp1 others(5): Show HG00140.hp1 HG02027.hp1 HG02486.hp1 HG02523.hp1 HG02622.hp2 HG03195.hp1 NA19066.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 a0001c0007t0003	a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 others(5): Show a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0215 a0001c0002t0002g0214 a0001c0006t0001g0209 a0001c0007t0003g0045	8	228	0.0351	41	c.-19 others(58): Show c.-19+9832_-19+9833insAGAGGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAGAGAAGA	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar
LRFN5_chr14_41601876_41909549	41610661	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0039 a0001c0002t0021g0039	1	280	0.0036	41	c.-19 others(60): Show c.-197+2121_-197+2122insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRIT3_chr4_109843107_109877315	109850402	C C	CTTTCTTT others(34): Show CTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0197 a0001c0004t0009g0197	1	332	0.0030	41	c.117 others(58): Show c.117-1102_117-1101insTTTCTTTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3			chr4	TogoVar
LRP1B_chr2_140226423_142136016	141544310	C C	CTTCTTCT others(34): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0027 a0005c0003t0002g0027	1	28	0.0357	41	c.206 others(60): Show c.206-63818_206-63778dupAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRRC14B_chr5_186495_201334	196705	A A	ATGTCACC others(34): Show ATGTCACCCCACTCCAGGTGTGCCCCCACCCCTGCTGCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	470	0.0021	41	c.13 others(52): Show c.1352_*1353insTGTCACCCCACTCCAGGTGTGCCCCCACCCCTGC TGCCCTG	LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding		372		chr5	TogoVar
LRRC40_chr1_70139805_70210579	70190677	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02132.hp2 HG02056.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0115 a0001c0001t0001g0118	2	320	0.0063	41	c.152 others(58): Show c.152-1405_152-1404insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	LRRC40	ENSG00000066557.6	transcript	ENST00000370952.4	protein_coding	1/14			chr1	TogoVar
LRRC4C_chr11_40109209_41464652	41034464	T T	TATATATG others(34): Show TATATATGTGTGTGTATATATATATACACATATATATACACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19030.hp1 HG03098.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0020 a0001c0001t0001g0027	2	48	0.0417	41	c.-49 others(64): Show c.-495-100742_-495-100741insTGTGTATATATATGTGTATATA TATATACACACACATATAT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
LRRC56_chr11_532527_559912	555205	A A	AGGGGCGG others(34): Show AGGGGCGGGGAGGAGAGCGGAGGGGCGGGGAGGAGAGCGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	387	0.0026	41	c.92 others(50): Show c.929_*930insGGGGCGGGGAGGAGAGCGGAGGGGCGGGGAGGAGAG CGGAG	LRRC56	ENSG00000161328.11	transcript	ENST00000270115.8	protein_coding		294		chr11	TogoVar
LRRC61_chr7_150318355_150343156	150340846	T T	TGCTTAGC others(34): Show TGCTTAGCAAAGTTCCCTGCCCACGGGCTAGGATCATCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	41	c.32 others(52): Show c.3205_*3206insGCTTAGCAAAGTTCCCTGCCCACGGGCTAGGATC ATCAAGG	LRRC61	ENSG00000127399.15	transcript	ENST00000359623.9	protein_coding		2691		chr7	TogoVar
LRRC75A_chr17_16436577_16497193	16476585	G G	GTAAAAAC others(34): Show GTAAAAACAAAAGCCAAATAAAGCCAGGTGCAGTGGCTCACT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0200 a0001c0007t0012g0200	1	342	0.0029	41	c.247 others(60): Show c.247-14200_247-14199insAGTGAGCCACTGCACCTGGCTTTATT TGGCTTTTGTTTTTA	LRRC75A	ENSG00000181350.12	transcript	ENST00000470794.2	protein_coding	1/3			chr17	TogoVar
LRRC7_chr1_69562922_70149364	69781786	A A	AAAGAAAG others(34): Show AAAGAAAGAAAGAAAGAAAGGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0024 a0001c0008t0024	a0001c0008t0024g0107 a0001c0008t0024g0107	1	108	0.0093	41	c.304 others(60): Show c.304-10254_304-10253insAAAGAAAGAAAGAAAGGAAAGGAAGG AAGGAAGGAAGGAAG	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRK1_chr15_100914357_101083257	100962823	A A	ACATATAT others(34): Show ACATATATATATATATACATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0178 a0001c0083t0178	a0001c0083t0178g0081 a0001c0083t0178g0081	1	338	0.0030	41	c.98- others(58): Show c.98-10981_98-10980insCATATATATATATATACATATATATATA TATATATTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33			chr15	TogoVar
LRRK1_chr15_100914357_101083257	100962823	A A	ACATATAT others(34): Show ACATATATATATATATACATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG02280.hp2 others(2): Show HG00735.hp2 HG01081.hp2 HG02280.hp2 HG02723.hp2 HG02965.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0066 a0001c0070 a0001c0103 others(2): Show a0001c0066 a0001c0070 a0001c0103 a0002c0105 a0004c0085	a0001c0066t0232 a0001c0070t0155 a0001c0103t0050 others(2): Show a0001c0066t0232 a0001c0070t0155 a0001c0103t0050 a0002c0105t0125 a0004c0085t0213	a0001c0066t0232g0076 a0001c0070t0155g0073 a0001c0103t0050g0323 others(2): Show a0001c0066t0232g0076 a0001c0070t0155g0073 a0001c0103t0050g0323 a0002c0105t0125g0314 a0004c0085t0213g0319	5	338	0.0148	41	c.98- others(58): Show c.98-10981_98-10980insCATATATATATATATACATATATATATA TATATTTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33			chr15	TogoVar
LRRN1_chr3_3794431_3854834	3834525	G G	GATATATA others(34): Show GATATATATATATATATCATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0205 a0001c0001t0007g0205	1	422	0.0024	41	c.-27 others(60): Show c.-278-9823_-278-9822insCATATATATATATATATATATATATA TATATATATATATAT	LRRN1	ENSG00000175928.6	transcript	ENST00000319331.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRN1_chr3_3794431_3854834	3834527	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01261.hp2 HG01069.hp2 HG01071.hp2 HG01261.hp2	a0004 a0004	a0004c0010 a0004c0013 a0004c0010 a0004c0013	a0004c0010t0006 a0004c0013t0030 a0004c0010t0006 a0004c0013t0030	a0004c0010t0006g0324 a0004c0013t0030g0007 a0004c0010t0006g0324 a0004c0013t0030g0007	3	422	0.0071	41	c.-27 others(60): Show c.-278-9811_-278-9810insATATATATATATATGATATATATATA TATATATATATATAT	LRRN1	ENSG00000175928.6	transcript	ENST00000319331.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	294	0.0034	41	c.153 others(62): Show c.1536+50101_1536+50102insAAAAATATATATATATATATATAT ATATATATATATATATA	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	ATAAAAAA others(34): Show ATAAAAAAAATAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	294	0.0034	41	c.153 others(62): Show c.1536+50100_1536+50101insTAAAAAAAATAAAAAAAAAATATA TATATATATATATATAT	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2			chr10	TogoVar
LRRTM4_chr2_76742685_77527376	76812776	C C	CCCTCCTC others(34): Show CCCTCCTCCTCTCCCTCCCCCTCCTCCTCTCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	128	0.0078	41	c.155 others(62): Show c.1552-63861_1552-63860insAAGGGGGGAGGGAGAGGAGGAGGG GGAGGGAGAGGAGGAGG	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LSAMP_chr3_115797374_116450487	116113420	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0075 a0001c0001t0061g0075	1	104	0.0096	41	c.156 others(60): Show c.156-26865_156-26864insAAAAAAAAAAATATATATATATATAT ATATATATATATATA	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	1/6			chr3	TogoVar
LSAMP_chr3_115797374_116450487	116113420	A A	ATATATAT others(34): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0003 a0001c0001t0019g0003	1	104	0.0096	41	c.156 others(60): Show c.156-26865_156-26864insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATATATATA	LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	1/6			chr3	TogoVar
LSP1_chr11_1848084_1897263	1881607	G G	GCCTCGAG others(34): Show GCCTCGAGGGCGGGCGCTGGGCAGAGCAGGGCTCCCTCTGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0158 a0002c0005t0001g0158	1	360	0.0028	41	c.356 others(55): Show c.356+84_356+124dupTCCCTCTGGACCTCGAGGGCGGGCGCTGGGC AGAGCAGGGC	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LTBP2_chr14_74493183_74617237	74563247	T T	TCCTTTCG others(34): Show TCCTTTCGCATTTCCCCCGCAAAATCACACACACTGGAATCC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0025 a0002c0004t0004g0025	1	282	0.0036	41	c.831 others(58): Show c.831-7595_831-7555dupGGATTCCAGTGTGTGTGATTTTGCGGGG GAAATGCGAAAGG	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LUC7L_chr16_183990_234449	186425	G G	GGAGGAAC others(34): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	350	0.0029	41	c.27 others(52): Show c.2772_*2773insTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2564		chr16	TogoVar
LUC7L_chr16_183990_234449	186714	G G	GGAGGAAC others(34): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	350	0.0029	41	c.24 others(52): Show c.2483_*2484insTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2275		chr16	TogoVar
LUC7L_chr16_183990_234449	186833	G G	GGAGGAAC others(34): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	350	0.0029	41	c.23 others(52): Show c.2364_*2365insTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2156		chr16	TogoVar
LUZP2_chr11_24492053_25087638	24774678	A A	ATATTCTA others(34): Show ATATTCTATATATATATAGAATATATATAGAATATATTCTAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0115 a0001c0001t0006g0115	1	116	0.0086	41	c.396 others(60): Show c.396+11370_396+11371insTATTCTATATATATATAGAATATATA TAGAATATATTCTAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11			chr11	TogoVar
LUZP2_chr11_24492053_25087638	24774678	A A	ATATTCTA others(34): Show ATATTCTATATATATGTAGAATATATATAGAATATATTCTAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03041.hp1 HG02896.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0012 a0001c0001t0013 a0001c0003t0012	a0001c0001t0013g0086 a0001c0003t0012g0046 a0001c0001t0013g0086 a0001c0003t0012g0046	2	116	0.0172	41	c.396 others(60): Show c.396+11370_396+11371insTATTCTATATATATGTAGAATATATA TAGAATATATTCTAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11			chr11	TogoVar
LY86_chr6_6583720_6659982	6657546	G G	GGATCCAA others(34): Show GGATCCAATCAGATCATGCCTCCCAGCATCACCTCATTGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	424	0.0024	41	c.29 others(52): Show c.2919_*2920insGATCCAATCAGATCATGCCTCCCAGCATCACCTC ATTGCAA	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding		2565		chr6	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0143 a0003c0003t0002g0143	1	306	0.0033	41	c.101 others(60): Show c.101+16774_101+16775insATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYSMD1_chr1_151154748_151170902	151160238	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 NA19007.hp1 HG03491.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0002c0002t0040 a0001c0001t0040 a0002c0002t0040	a0001c0001t0040g0140 a0002c0002t0040g0094 a0001c0001t0040g0140 a0002c0002t0040g0094	2	344	0.0058	41	c.64 others(50): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3	643		chr1	TogoVar
LYZL2_chr10_30606779_30634753	30611718	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18997.hp1 NA19078.hp2 NA18944.hp1 NA18997.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0231 a0001c0001t0001g0023 a0001c0001t0001g0231	3	456	0.0066	41	c.23 others(50): Show c.236_*237insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		60		chr10	TogoVar
MACC1_chr7_20129655_20222384	20160280	A A	ATAAGGTG others(34): Show ATAAGGTGGCACTGTGAGTTACAATCAAGATTAATTTTAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 NA18943.hp2 others(2): Show HG00408.hp1 HG00438.hp2 NA18943.hp2 NA18946.hp2 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0045 a0002c0002t0105 others(1): Show a0002c0002t0001 a0002c0002t0045 a0002c0002t0105 a0002c0002t0108	a0002c0002t0001g0212 a0002c0002t0045g0062 a0002c0002t0045g0085 others(2): Show a0002c0002t0001g0212 a0002c0002t0045g0062 a0002c0002t0045g0085 a0002c0002t0105g0243 a0002c0002t0108g0105	5	316	0.0158	41	c.116 others(54): Show c.116-36_116-35insCTCTAAAATTAATCTTGATTGTAACTCACAGT GCCACCTTA	MACC1	ENSG00000183742.13	transcript	ENST00000400331.10	protein_coding	4/6			chr7	TogoVar
MACF1_chr1_39199695_39492138	39307901	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0182 a0002c0003t0002g0182	1	246	0.0041	41	c.279 others(60): Show c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	23/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACIR_chr5_103253763_103283660	103261654	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp2 HG02055.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0012 a0001c0001t0004 a0001c0002t0012	a0001c0001t0004g0225 a0001c0002t0012g0224 a0001c0001t0004g0225 a0001c0002t0012g0224	2	360	0.0056	41	c.-11 others(60): Show c.-114+2761_-114+2801dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261658	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18946.hp1 NA18973.hp1 others(2): Show HG01257.hp1 NA18946.hp1 NA18973.hp1 NA18994.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0229 a0001c0001t0002g0010 a0001c0001t0002g0229	5	360	0.0139	41	c.-11 others(60): Show c.-114+2765_-114+2805dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261662	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18975.hp2 HG03516.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	2	360	0.0056	41	c.-11 others(60): Show c.-114+2768_-114+2808dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAD1L1_chr7_1810795_2237945	1930262	C C	CCCCGTCC others(34): Show CCCCGTCCCCACTGCCACGTCCCCACTGCCACGTCCCCTCAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0129 a0001c0001t0002g0130	2	264	0.0076	41	c.180 others(60): Show c.1807+6424_1807+6425insATGAGGGGACGTGGCAGTGGGGACGT GGCAGTGGGGACGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2058245	C C	CGGGGCTG others(34): Show CGGGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGGCGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03209.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147	3	264	0.0114	41	c.121 others(62): Show c.1218+10948_1218+10949insACGCCTCTCCTCTCCTCTGGCCAC ACTCCCTCTCCAGCCCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar

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