Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
LMCD1_chr3_8496823_8579668	8502322	T T	TATATATA others(40): Show TATATATATAAAATATATATAATATATATAATATATATTATATATAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0020 a0001c0001t0012g0020	1	314	0.0032	47	c.42+ others(60): Show c.42+349_42+350insTAAAATATATATAATATATATAATATATATTA TATATAAAATATATA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(40): Show GAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	294	0.0034	47	c.153 others(66): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACGCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857775	G G	GAGTGGTG others(40): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	294	0.0034	47	c.153 others(66): Show c.1530-3070_1530-3069insGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858301	T T	TGGGTGTG others(40): Show TGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01081.hp1 others(6): Show HG00423.hp1 HG00609.hp1 HG01081.hp1 HG02300.hp1 NA18967.hp2 NA19003.hp2 NA19009.hp2 NA19066.hp2 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0001c0010 others(2): Show a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0003c0015	a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 others(2): Show a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0011t0001 a0003c0015t0001	a0001c0003t0001g0180 a0001c0003t0001g0237 a0001c0005t0001g0112 others(6): Show a0001c0003t0001g0180 a0001c0003t0001g0237 a0001c0005t0001g0112 a0001c0005t0001g0129 a0001c0005t0001g0130 a0001c0010t0001g0115 a0001c0011t0001g0155 a0001c0011t0001g0158 a0003c0015t0001g0014	9	294	0.0306	47	c.153 others(66): Show c.1530-3596_1530-3595insGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACGCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858424	T T	TGCAGTGG others(40): Show TGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	294	0.0034	47	c.153 others(66): Show c.1530-3719_1530-3718insGCACCCGTCCCGAGACACCACTCGCA CCCGTCCCGTGACACCACTGC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858592	T T	TGGTGTCT others(40): Show TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0002 a0003c0030t0002	a0003c0030t0002g0008 a0003c0030t0002g0008	1	294	0.0034	47	c.153 others(66): Show c.1530-3887_1530-3886insCCTGCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGAGACACC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858776	C C	CAGTGGTG others(40): Show CAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0250 a0001c0003t0001g0250	1	294	0.0034	47	c.153 others(66): Show c.1530-4071_1530-4070insCACACCCGTCCCGAGACACCACTGCA CACCCCTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858868	G G	GAGTGGTG others(40): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0001 a0005c0027t0001	a0005c0027t0001g0032 a0005c0027t0001g0032	1	294	0.0034	47	c.153 others(66): Show c.1530-4163_1530-4162insGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858981	G G	GGGTGTGA others(40): Show GGGTGTGAGTGTTGTCTCGGGACCGGTGTGCAGTGTTGTCTCGGGACC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02698.hp2 HG01168.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0229 a0001c0008t0002g0071 a0001c0001t0002g0229 a0001c0008t0002g0071	2	294	0.0068	47	c.153 others(66): Show c.1530-4276_1530-4275insGGTCCCGAGACAACACTGCACACCGG TCCCGAGACAACACTCACACC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859441	G G	GTGTCTCG others(40): Show GTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0006 a0006c0021t0006	a0006c0021t0006g0019 a0006c0021t0006g0019	1	294	0.0034	47	c.153 others(66): Show c.1530-4736_1530-4735insTCACTGCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGAGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	902664	G G	GTGGTGAC others(40): Show GTGGTGACCTCTGCACTGCCCACAGGACTCCTGTCTCTGCTGTGTGGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	294	0.0034	47	c.663 others(64): Show c.663+8266_663+8267insACCACACAGCAGAGACAGGAGTCCTGTG GGCAGTGCAGAGGTCACCA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAAAGAAA others(40): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	400	0.0025	47	c.-20 others(58): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTT TCTTTCTTTCTTT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		1795		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0347 a0001c0002t0004g0347	1	428	0.0023	47	c.165 others(66): Show c.1657-1733_1657-1732insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140148	T T	TGTCTGTC others(40): Show TGTCTGTCTGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG02602.hp1 others(1): Show HG00558.hp2 HG00741.hp1 HG02602.hp1 NA19054.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0026 a0001c0001 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0058 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0058 a0005c0026t0018	a0001c0001t0001g0221 a0001c0001t0002g0283 a0001c0001t0058g0206 others(1): Show a0001c0001t0001g0221 a0001c0001t0002g0283 a0001c0001t0058g0206 a0005c0026t0018g0218	4	390	0.0103	47	c.232 others(64): Show c.232-1249_232-1248insGTCTGTCTGTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTC	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13			chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140149	T T	TTCTGTCT others(40): Show TTCTGTCTGTCTGTCCGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0241 a0001c0018t0002g0241	1	390	0.0026	47	c.232 others(64): Show c.232-1247_232-1246insCTGTCTGTCTGTCCGTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCT	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140149	T T	TTCTGTCT others(40): Show TTCTGTCTGTCTGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03710.hp2 HG03942.hp1 others(2): Show HG03209.hp1 HG03710.hp2 HG03942.hp1 NA18953.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0011 a0007c0014 a0001c0001 a0001c0011 a0007c0014	a0001c0001t0002 a0001c0001t0055 a0001c0011t0002 others(1): Show a0001c0001t0002 a0001c0001t0055 a0001c0011t0002 a0007c0014t0001	a0001c0001t0002g0320 a0001c0001t0002g0324 a0001c0001t0055g0265 others(2): Show a0001c0001t0002g0320 a0001c0001t0002g0324 a0001c0001t0055g0265 a0001c0011t0002g0321 a0007c0014t0001g0234	5	390	0.0128	47	c.232 others(64): Show c.232-1247_232-1246insCTGTCTGTCTGTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCT	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA18962.hp1 HG00673.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	330	0.0061	47	c.-41 others(58): Show c.-4154_-4153insAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAG ACAGAGACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	47	c.-41 others(58): Show c.-4154_-4153insAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAG AGAGACAGAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(40): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18940.hp1 NA18941.hp2 others(5): Show HG02523.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18990.hp2 NA18998.hp1 NA19075.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0014 a0001c0001t0000g0080 a0001c0001t0000g0171 a0001c0001t0000g0014 a0001c0001t0000g0080 a0001c0001t0000g0171	8	462	0.0173	47	c.106 others(64): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128462377_chr16_89312046_89423292	89390139	C C	CAGAGAAG others(40): Show CAGAGAAGATCACTGGGGCGAACACCGAGTGTGGCGGGGAGCACCGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG03130.hp2 others(2): Show HG02723.hp2 HG02896.hp1 HG03130.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0362 a0001c0001t0000g0363 a0001c0001t0000g0364 others(2): Show a0001c0001t0000g0362 a0001c0001t0000g0363 a0001c0001t0000g0364 a0001c0001t0000g0365 a0001c0001t0000g0366	5	366	0.0137	47	c.9+2 others(62): Show c.9+28098_9+28144dupCTCGGTGCTCCCCGCCACACTCGGTGTTCG CCCCAGTGATCTTCTCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11499173	G G	GAAGGGAG others(40): Show GAAGGGAGGCAGAGGGGAGGGGGGAAGGGAGGCAGAGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp1 HG02559.hp1 others(2): Show HG02015.hp2 HG02040.hp1 HG02559.hp1 NA18971.hp2 NA19009.hp2	a0003 a0022 a0023 others(1): Show a0003 a0022 a0023 a0093	a0003c0002 a0022c0156 a0023c0018 others(1): Show a0003c0002 a0022c0156 a0023c0018 a0093c0122	a0003c0002t0001 a0022c0156t0003 a0023c0018t0002 others(1): Show a0003c0002t0001 a0022c0156t0003 a0023c0018t0002 a0093c0122t0004	a0003c0002t0001g0073 a0003c0002t0001g0210 a0022c0156t0003g0269 others(2): Show a0003c0002t0001g0073 a0003c0002t0001g0210 a0022c0156t0003g0269 a0023c0018t0002g0078 a0093c0122t0004g0307	5	310	0.0161	47	c.124 others(66): Show c.1245+1630_1245+1631insTCCCCCCTCCCCTCTGCCTCCCTTCC CCCCTCCCCTCTGCCTCCCTT	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66			chr16	TogoVar
LPA_chr6_160526482_160669275	160654056	T T	TATTATAT others(40): Show TATTATATATTATATATAATATATATAATATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0046 a0002c0013t0002g0046	1	148	0.0068	47	c.50- others(62): Show c.50-3560_50-3559insTATATTATATATAATATATATTATATATAT TATATATAATATATAAT	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	1/38			chr6	TogoVar
LPIN1_chr2_11741632_11832409	11759769	G G	GCCCCCCA others(40): Show GCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	278	0.0036	47	c.-9- others(62): Show c.-9-5717_-9-5671dupACCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGCTG	LPIN1	ENSG00000134324.12	transcript	ENST00000674199.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
LPIN2_chr18_2911999_3018144	2958141	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0303 a0001c0001t0021g0303	1	380	0.0026	47	c.192 others(64): Show c.192+2507_192+2508insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19			chr18	TogoVar
LPP_chr3_188149157_188895671	188893038	A A	ATATATAT others(40): Show ATATATATATATACATTATATATATATACATTATATATATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0040 a0002c0004t0012g0040	1	76	0.0132	47	c.18 others(60): Show c.18559_*18560insTATATATATATACATTATATATATATACATTA TATATATATATACAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding		2368		chr3	TogoVar
LRBA_chr4_150259435_151020284	150648158	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0159 a0001c0005t0001g0159	1	180	0.0056	47	c.592 others(68): Show c.5921+35392_5921+35393insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150658707	C C	CCCTCTCC others(40): Show CCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	180	0.0056	47	c.592 others(68): Show c.5921+24843_5921+24844insAGAGGGAGAGGGAGGAGGGAGAGG GAGAGGAGAGGGAGAGGGAGAGG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150805325	A A	AAAGGAAA others(40): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG03225.hp1 HG02055.hp2 HG02109.hp2 HG03225.hp1	a0006 a0012 a0006 a0012	a0006c0008 a0012c0018 a0006c0008 a0012c0018	a0006c0008t0001 a0006c0008t0002 a0012c0018t0001 a0006c0008t0001 a0006c0008t0002 a0012c0018t0001	a0006c0008t0001g0113 a0006c0008t0002g0116 a0012c0018t0001g0126 a0006c0008t0001g0113 a0006c0008t0002g0116 a0012c0018t0001g0126	3	180	0.0167	47	c.551 others(64): Show c.5518+945_5518+946insCTCCTTCTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	33/56			chr4	TogoVar
LRFN3_chr19_35931374_35951624	35947607	T T	TGTGTGTG others(40): Show TGTGTGTGTGTGTGTGTTCCCATGAGGGGGAGCCAGAGGGCACTGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0025	1	418	0.0024	47	c.25 others(58): Show c.2588_*2589insGTGTGTGTGTGTGTGTTCCCATGAGGGGGAGCCA GAGGGCACTGTTC	LRFN3	ENSG00000126243.9	transcript	ENST00000246529.4	protein_coding		984		chr19	TogoVar
LRGUK_chr7_134122340_134269595	134129064	T T	TCTCTTTC others(40): Show TCTCTTTCTTTCTTTCTCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG03540.hp1 others(1): Show HG02280.hp2 HG02976.hp1 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0003 a0001c0001t0001 a0001c0008t0003	a0001c0001t0001g0013 a0001c0008t0003g0010 a0001c0008t0003g0011 others(1): Show a0001c0001t0001g0013 a0001c0008t0003g0010 a0001c0008t0003g0011 a0001c0008t0003g0012	4	220	0.0182	47	c.297 others(64): Show c.297+1430_297+1431insCCTCCCTCCCTCCCTTCCTCTTTCTTTC TTTCTCCTTCCTTCCTTCC	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRIT3_chr4_109843107_109877315	109850418	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19060.hp2 HG02970.hp2 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0003 a0003c0003t0004 a0001c0002t0003 a0003c0003t0004	a0001c0002t0003g0069 a0003c0003t0004g0140 a0001c0002t0003g0069 a0003c0003t0004g0140	2	332	0.0060	47	c.117 others(64): Show c.117-1086_117-1085insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3			chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCCTT others(40): Show CCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	332	0.0030	47	c.117 others(64): Show c.117-1079_117-1078insCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCCTT others(40): Show CCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03831.hp1 NA18947.hp1 others(2): Show HG03017.hp2 HG03831.hp1 NA18947.hp1 NA18965.hp1 NA18982.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0006 a0001c0002t0001 a0004c0005t0006	a0001c0002t0001g0006 a0001c0002t0001g0095 a0004c0005t0006g0015 a0001c0002t0001g0006 a0001c0002t0001g0095 a0004c0005t0006g0015	5	332	0.0151	47	c.117 others(64): Show c.117-1079_117-1078insCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCTTT others(40): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0005 a0005c0010t0005	a0005c0010t0005g0243 a0005c0010t0005g0243	1	332	0.0030	47	c.117 others(64): Show c.117-1079_117-1078insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02559.hp2 HG02015.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0010 a0002c0001t0019 a0001c0004t0010 a0002c0001t0019	a0001c0004t0010g0107 a0002c0001t0019g0268 a0001c0004t0010g0107 a0002c0001t0019g0268	2	332	0.0060	47	c.117 others(64): Show c.117-1082_117-1081insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3			chr4	TogoVar
LRP11_chr6_149813757_149869359	149859396	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	334	0.0030	47	c.613 others(64): Show c.613+4011_613+4012insAAAAAAATATATATATATATATATATAT ATATATATATATATATATA	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRRC71_chr1_156915632_156938094	156928363	C C	CTCTCTTC others(40): Show CTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0062 a0003c0004t0001g0062	1	402	0.0025	47	c.996 others(62): Show c.996+362_996+363insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	LRRC71	ENSG00000160838.14	transcript	ENST00000337428.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRK1_chr15_100914357_101083257	100962823	A A	ATACATAT others(40): Show ATACATATATATATATATACATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG04228.hp1 HG00642.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0018 a0001c0002 a0002c0018	a0001c0002t0173 a0002c0018t0023 a0001c0002t0173 a0002c0018t0023	a0001c0002t0173g0224 a0002c0018t0023g0212 a0001c0002t0173g0224 a0002c0018t0023g0212	2	338	0.0059	47	c.98- others(64): Show c.98-10980_98-10979insACATATATATATATATACATATATATAT ATATATATATTTTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRK1_chr15_100914357_101083257	100962823	A A	ATACATAT others(40): Show ATACATATATATATATATATACATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0005 a0005	a0005c0106 a0005c0106	a0005c0106t0144 a0005c0106t0144	a0005c0106t0144g0317 a0005c0106t0144g0317	1	338	0.0030	47	c.98- others(64): Show c.98-10980_98-10979insACATATATATATATATATACATATATAT ATATATATATATTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRK1_chr15_100914357_101083257	101079864	G G	GGACCTAA others(40): Show GGACCTAAGAACCATGGATTGGAGCGTTGTGTGCCAGGCGTGCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0119 a0002c0001t0119	a0002c0001t0119g0041 a0002c0001t0119g0041	1	338	0.0030	47	c.11 others(60): Show c.11016_*11017insGACCTAAGAACCATGGATTGGAGCGTTGTGTG CCAGGCGTGCCCCCT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding		1608		chr15	TogoVar
LUC7L2_chr7_139354894_139428454	139424850	G G	GTTTTTTT others(40): Show GTTTTTTTTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTTGTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	276	0.0036	47	c.25 others(58): Show c.2510_*2511insTTTTTTTTTTTTTTTTTTTTGTTTTTTGTTTTTT TTTTGTTTTTTTT	LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding		1397		chr7	TogoVar
LY86_chr6_6583720_6659982	6659110	C C	CCCAGACT others(40): Show CCCAGACTCCTTAGCGAGAGAACAGAAAGGGGCCACATCTGATGACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	424	0.0024	47	c.44 others(58): Show c.4483_*4484insCCAGACTCCTTAGCGAGAGAACAGAAAGGGGCCA CATCTGATGACAA	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding		4129		chr6	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	306	0.0033	47	c.101 others(66): Show c.101+16774_101+16775insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	306	0.0033	47	c.101 others(66): Show c.101+16774_101+16775insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYRM4_chr6_5103419_5265950	5214953	C C	CGCCCTTG others(40): Show CGCCCTTGCCCTGCACATGCCACTGCTCCAGTGCGTCTGTCCTGGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01361.hp1 NA18972.hp1 others(2): Show HG01074.hp1 HG01361.hp1 NA18972.hp1 NA18983.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0214 a0002c0002t0006g0224 a0002c0002t0006g0227 others(2): Show a0002c0002t0006g0214 a0002c0002t0006g0224 a0002c0002t0006g0227 a0002c0002t0006g0261 a0002c0002t0006g0262	5	286	0.0175	47	c.207 others(64): Show c.207+1618_207+1664dupCTCCCAGGACAGACGCACTGGAGCAGTG GCATGTGCAGGGCAAGGGC	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MACIR_chr5_103253763_103283660	103261638	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	360	0.0028	47	c.-11 others(66): Show c.-114+2744_-114+2745insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	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(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	360	0.0028	47	c.-11 others(66): Show c.-114+2801_-114+2802insTCTTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAEA_chr4_1284891_1345137	1334088	A A	ATCCACCC others(40): Show ATCCACCCCCATGCCCACCGTGTGCTCACCCCTGTGCTCACCCCTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20300.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0252 a0001c0001t0004g0295 a0001c0001t0001g0252 a0001c0001t0004g0295	2	388	0.0052	47	c.765 others(64): Show c.765+1223_765+1224insTCCACCCCCATGCCCACCGTGTGCTCAC CCCTGTGCTCACCCCTGTG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8			chr4	TogoVar
MAGI1_chr3_65348526_66043918	65610742	G G	GTATATAC others(40): Show GTATATACTATATACTATATATATATATATATATACTATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA20805.hp1 HG01361.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0077 a0002c0002t0001g0060 a0001c0001t0001g0077 a0002c0002t0001g0060	2	104	0.0192	47	c.430 others(66): Show c.430+11229_430+11230insTATATATATATAGTATATATATATAT ATATATAGTATATAGTATATA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65610742	G G	GTATATAC others(40): Show GTATATACTATATACTATATATATATATATATATATACTATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0043 a0001c0005t0001g0043	1	104	0.0096	47	c.430 others(66): Show c.430+11229_430+11230insTATATATATAGTATATATATATATAT ATATATAGTATATAGTATATA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar

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