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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
LRBA_chr4_150259435_151020284	150489239	C C	CGAATATA others(209): Show CGAATATATAATATATTATATATACGAATATATAATATATTATATATACG TATATATAATATATTATATATACGAATATATAATATATTATATATACGAA TATATAATATATTATATATACGAATATATAATATATTATATATACGAATA TATAATATATTATATATACGAATATATAATATATTATATATACGAATATA TAATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	180	0.0056	216	c.644 others(235): Show c.6449-1406_6449-1405insTTATATATAATATATTATATATTCGT ATATATAATATATTATATATTCGTATATATAATATATTATATATTCGTAT ATATAATATATTATATATTCGTATATATAATATATTATATATTCGTATAT ATAATATATTATATATTCGTATATATAATATATTATATATACGTATATAT AATATATTATATATTCGTATATATAATATATTATATATTC	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150489239	C C	CGAATATA others(209): Show CGAATATATAATATATTATATATACGAATATATAATATATTATATATACG TATATATAATATATTATATATACGTATATATAATATATTATATATACGAA TATATAATATATTATATATACGAATATATAATATATTATATATACGAATA TATAATATATTATATATACGAATATATAATATATTATATATACGAATATA TAATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	180	0.0056	216	c.644 others(235): Show c.6449-1406_6449-1405insTTATATATAATATATTATATATTCGT ATATATAATATATTATATATTCGTATATATAATATATTATATATTCGTAT ATATAATATATTATATATTCGTATATATAATATATTATATATTCGTATAT ATAATATATTATATATACGTATATATAATATATTATATATACGTATATAT AATATATTATATATTCGTATATATAATATATTATATATTC	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LRCH3_chr3_197786254_197893436	197876842	G G	GCAGTGAT others(209): Show GCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTT TACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCG CACCCGTGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTG ATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA ACTCACCGCACCCATGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	292	0.0034	216	c.220 others(235): Show c.2208+1086_2208+1087insGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCGTGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGC AGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197876899	C C	CTCACTGC others(209): Show CTCACTGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCT TTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACC GCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGT GATTCTCTTTACCCAGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0165 a0001c0001t0064g0165	1	292	0.0034	216	c.220 others(235): Show c.2208+1128_2208+1129insTGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCA CCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGAT TCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGT TCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCAC	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197876914	G G	GCAGTGAT others(209): Show GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCG CACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTG ATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA ACTCACCGCACCCATGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp1 HG01361.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0072 a0001c0001t0011g0136 a0001c0001t0011g0072 a0001c0001t0011g0136	2	292	0.0069	216	c.220 others(235): Show c.2208+1210_2208+1211insACAGTGATTCTCTTTACCCAACTCAC CGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAG TGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACC CAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACC CATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877223	C C	CTCACCGC others(209): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAATTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGT GATTCTCTTTACCCAGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19057.hp2 NA18953.hp1 NA19057.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0013 a0002c0003t0001 a0002c0003t0013	a0002c0003t0001g0281 a0002c0003t0013g0241 a0002c0003t0001g0281 a0002c0003t0013g0241	2	292	0.0069	216	c.220 others(235): Show c.2208+1518_2208+1519insATTCACCGCACCCATGGCAGTGATTC TCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGC AGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877295	T T	TTCACCGC others(209): Show TTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGT GATTCTCTTTACCCAAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	292	0.0034	216	c.220 others(235): Show c.2208+1571_2208+1786dupGCAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAG TGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACC CAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACC CATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877439	C C	CTCACCGC others(209): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCT TTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGT GATTCTCTTTACCCAGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02615.hp2 others(1): Show HG01884.hp2 HG01934.hp1 HG02615.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0002 a0002c0006t0018 a0002c0006t0047 a0002c0003t0002 a0002c0006t0018 a0002c0006t0047	a0002c0003t0002g0076 a0002c0003t0002g0288 a0002c0006t0018g0149 others(1): Show a0002c0003t0002g0076 a0002c0003t0002g0288 a0002c0006t0018g0149 a0002c0006t0047g0059	4	292	0.0137	216	c.220 others(235): Show c.2208+1734_2208+1735insGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGC AGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877562	A A	ACAGTGAT others(209): Show ACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCAACTTACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCG CACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTG ATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCA GTTCACCGCACCCATGG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0063 a0003c0009t0063	a0003c0009t0063g0113 a0003c0009t0063g0113	1	292	0.0034	216	c.220 others(235): Show c.2208+1806_2208+1807insACTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTTACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGC AGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(209): Show CCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACTCATGCTTACATCTACCTCCACACCCAC ACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0186 a0005c0016t0002g0186	1	290	0.0035	216	c.129 others(233): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGCTTACAT CTACCTCCACACCCACACTTACACTCATGCTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTCACACCCACCCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(209): Show CCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC GCGCTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCAC ACTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	290	0.0035	216	c.129 others(233): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCGCGCTTAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCGCGCTTACACCCACCCTTACATCTACCTCCACAC CCGCGCTTACACCCACACTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LY6E_chr8_143013529_143027409	143014705	C C	CGTGTGAG others(209): Show CGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAG GAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGA GGGAGTCCTGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAGGGAGTCC CGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAG GAGGAGGAGGGAGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	377	0.0027	216	c.-39 others(227): Show c.-3939_-3938insGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAG GGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGT CCTGTGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCCGTGTG AGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAG GGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCT	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3823		chr8	TogoVar
MACROD2_chr20_13990516_16058197	14862054	T T	TATATATA others(209): Show TATATATATTTATATATATATTTATATATATATTTATATATATATTTATA TATATATATTTATATATATTTATATATATTTTTATATATTTTTATATATT TTTATATATATAAATATATAAAAATATATATAAATATATAAAAATATATA AAAATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0013 a0002c0002t0007g0013	1	24	0.0417	216	c.418 others(237): Show c.418+177103_418+177104insTTATATATATATTTATATATATAT TTATATATATATTTATATATATATATTTATATATATTTATATATATTTTT ATATATTTTTATATATTTTTATATATATAAATATATAAAAATATATATAA ATATATAAAAATATATAAAAATATATAAATATATATAAATATATAAATAT ATATAAATATATATAAATATATATTTATATATAAATATATAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1929941	C C	CCCCACTG others(209): Show CCCCACTGCCACGTCCCCTCGCCCCGCCCCCACTGCCACGTCCCCTCATC CCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCA CCACCACGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGT CCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCC ACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG02886.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0222 a0001c0001t0005g0137 a0001c0001t0005g0222	2	264	0.0076	216	c.180 others(235): Show c.1807+6745_1807+6746insACGGGGCGAGGGGACGTGGCAGTGGG GACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAG TGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGATGTG GCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGATGAGGGG ACGTGGCAGTGGGGGCGGGGCGAGGGGACGTGGCAGTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(209): Show TGCCACGTCCCCTCGCCCCGTCCACACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACATCCCACC ACCACGTCCACACTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCG CTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02965.hp2 HG03195.hp2 others(6): Show HG01081.hp2 HG02965.hp2 HG03195.hp2 HG03471.hp1 HG04115.hp2 HG06807.hp2 NA18981.hp1 NA19030.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0003t0001 a0001c0015t0001 a0001c0001t0001 a0001c0003t0001 a0001c0015t0001	a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0142 others(6): Show a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0204 a0001c0001t0001g0230 a0001c0003t0001g0005 a0001c0015t0001g0238	9	264	0.0341	216	c.180 others(235): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGTGGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1937626	C C	CCAGCAGG others(209): Show CCAGCAGGGAGGTGCAGGGTCACTGCGCACCCGAGACCCCGACCTCACGC CACACACAAACATCAGCCGCCCACAGCAGGGAGGTGCAGGGTCACTGCGC ACCCGAGACCCCGACCTCACGCCACACACAAACATCAGCCGCCCACAGCA GGGAGGTGCAGGGTCACTGCGCACCCGAGACCCCGACCTCACGCCACACA CAAACATCAGCCGCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG03540.hp2 HG02615.hp2 HG02630.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0140 a0001c0001t0001g0210 a0001c0001t0001g0211	3	264	0.0114	216	c.159 others(233): Show c.1597-945_1597-730dupTGGGCGGCTGATGTTTGTGTGTGGCGTG AGGTCGGGGTCTCGGGTGCGCAGTGACCCTGCACCTCCCTGCTGTGGGCG GCTGATGTTTGTGTGTGGCGTGAGGTCGGGGTCTCGGGTGCGCAGTGACC CTGCACCTCCCTGCTGTGGGCGGCTGATGTTTGTGTGTGGCGTGAGGTCG GGGTCTCGGGTGCGCAGTGACCCTGCACCTCCCTGCTG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1316984	T T	TAGACTCA others(209): Show TAGACTCACCCCCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCTGC AGGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCTGGCC CCCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACT CACCCCCAGGCCCACCCCCGCCCCCACACTCCACACTCACCTGCAGGCCC ACCCGGTCCCACACTCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0284 a0001c0003t0001g0284	1	388	0.0026	216	c.456 others(233): Show c.456+1406_456+1407insTGGCCCCCACACTCCAGACTCACCTGCA GGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCTGGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTC ACCCCCAGGCCCACCCCCGCCCCCACACTCCACACTCACCTGCAGGCCCA CCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317008	G G	GGCCCCCA others(209): Show GGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTA GACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAG GCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCC CACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCA CCCGCAGGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02280.hp1 HG02647.hp2 others(2): Show HG01255.hp2 HG02280.hp1 HG02647.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0093 a0001c0002t0001g0095 others(2): Show a0001c0002t0001g0082 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0120 a0001c0002t0001g0122	5	388	0.0129	216	c.456 others(233): Show c.456+1445_456+1446insCCCCACACTCTAGACTCACCCCCAGGCC CACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCAC CTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317175	T T	TGCAGGCC others(209): Show TGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCG GCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGG CCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0116 a0001c0002t0003g0116	1	388	0.0026	216	c.456 others(233): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCCCAGG CCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACC CCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI3_chr1_113385515_113690923	113416418	A A	AATATATA others(209): Show AATATATATTAATTATATATTATTTATATATCAATTATATATTAATTATA TATAATTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTA CAGTTAATATATATTAATATATAACTATATATTAATTATATATATTAATA TATATAATATATATTAATTATATATATTAATATATATAATATATATTAAT TATATATATTAATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	236	0.0042	216	c.316 others(235): Show c.316+25071_316+25072insATATATTAATTATATATTATTTATAT ATCAATTATATATTAATTATATATAATTAATTTTATATATTAATTCTATA TAGTTAATTATATATTAATTACAGTTAATATATATTAATATATAACTATA TATTAATTATATATATTAATATATATAATATATATTAATTATATATATTA ATATATATAATATATATTAATTATATATATTAATATATAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MALRD1_chr10_19043801_19739478	19315545	A A	ACTATAAT others(209): Show ACTATAATTTATATAAATATATAACTATAATTTATATAAATATATAACTA TAATTTATATAAATATATAACTATAATTTATATAAATATATAACTATAAT TTATATAAATATATAAAAATATAAATATAATTTATATAAATATATAAATA TTTATATATAAATATTTATATATATTTATATATAAATATTTATATATATT TATATAAATATATAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0051 a0051	a0051c0037 a0051c0037	a0051c0037t0001 a0051c0037t0001	a0051c0037t0001g0121 a0051c0037t0001g0121	1	152	0.0066	216	c.342 others(235): Show c.3420-8404_3420-8403insCTATAATTTATATAAATATATAACTA TAATTTATATAAATATATAACTATAATTTATATAAATATATAACTATAAT TTATATAAATATATAACTATAATTTATATAAATATATAAAAATATAAATA TAATTTATATAAATATATAAATATTTATATATAAATATTTATATATATTT ATATATAAATATTTATATATATTTATATAAATATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39			chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579162	C C	CCACCACC others(209): Show CCACCACCACCACCACCACCACCACCATCACCATCACCAGCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATC ACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02071.hp1 HG02074.hp1 others(15): Show HG00423.hp2 HG02071.hp1 HG02074.hp1 HG02602.hp1 NA18612.hp2 NA18941.hp2 NA18955.hp2 NA18962.hp2 NA18994.hp1 NA19000.hp1 NA19005.hp1 NA19011.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp1	a0001 a0002 a0023 others(1): Show a0001 a0002 a0023 a0028	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0023c0027 a0028c0048	a0001c0001t0001 a0002c0002t0001 a0002c0004t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0002 a0023c0027t0001 a0028c0048t0001	a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0117 others(13): Show a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0117 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0051 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0004t0002g0112 a0023c0027t0001g0121 a0028c0048t0001g0120	18	362	0.0497	216	c.391 others(231): Show c.391+681_391+682insCCACCACCATCACCATCACCAGCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(209): Show TATATATAATTATATATAATATAATTATATAATATATAATTTATATATAA TATAATTATATAATATATAATTTATATATAATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATAATATAATTATATAATATATAATTTATA TATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	216	c.-31 others(227): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(209): Show TATATATAATTATATATAATATAATTATATAATATATAATTTATATATAA TATAATTATATAATATATAATTTATATATTATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATAATATAATTATATAATATATAATTTATA TATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01169.hp2 others(18): Show HG00323.hp1 HG00408.hp2 HG01169.hp2 HG01258.hp2 HG01358.hp2 HG01928.hp1 HG01981.hp1 HG02004.hp2 HG04228.hp1 NA18954.hp1 NA18957.hp2 NA18963.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19064.hp2 NA19070.hp2 NA19076.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0005 a0002c0004 a0004c0005	a0002c0004t0001 a0004c0005t0001 a0002c0004t0001 a0004c0005t0001	a0002c0004t0001g0005 a0002c0004t0001g0021 a0004c0005t0001g0007 others(1): Show a0002c0004t0001g0005 a0002c0004t0001g0021 a0004c0005t0001g0007 a0004c0005t0001g0036	21	288	0.0729	216	c.-31 others(227): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATAATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396592	C C	CTATATAT others(209): Show CTATATATATTCACATATATATTCATATATATTCACATATATATATTCAC ATATATATTCACATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATAGATTCATATATAGATTCATATATAGATTCAT ATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATAT ATTCATATATATATTCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	191	0.0052	216	c.343 others(233): Show c.343-4259_343-4258insTGAATATATATATGAATATATATATGAA TATATATGAATCTATATATGAATATATATGAATCTATATATGAATCTATA TATGAATCTATATATGAATCTATATATATGAATATATATATGAATATATA TATGAATATATATATGAATATATATATGTGAATATATATGTGAATATATA TATGTGAATATATATGAATATATATGTGAATATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(209): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATTCATATATAGATTCATATATATATTCATATATAGATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	191	0.0052	216	c.343 others(233): Show c.343-4346_343-4345insGAATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATCTATATAT GAATATATATATGAATCTATATATGAATATATATGAATCTATATATGAAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAATATATAT ATGAATCTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCC_chr5_113017106_113493453	113333828	T T	TATATATG others(209): Show TATATATGTACATATATGTATATATGTACATATATGTATATATGTACATA TATGTATATATGTACATATATGTATATATGTACATATATGTATATATGTA CATATATGTATATATGTACATATATGTATATATGTACATATATGTATATA TGTACATATATGTATATATGTACATATGTACATATATGTACATATATGTA TATATGTACATATGTAC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0095 a0001c0003t0001g0095	1	160	0.0063	216	c.627 others(233): Show c.627+6690_627+6691insGTACATATGTACATATATACATATATGT ACATATATGTACATATGTACATATATACATATATGTACATATATACATAT ATGTACATATATACATATATGTACATATATACATATATGTACATATATAC ATATATGTACATATATACATATATGTACATATATACATATATGTACATAT ATACATATATGTACATATATACATATATGTACATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333836	T T	TATATATG others(209): Show TATATATGTATATATGTACATATATGTATATATGTATATATGTATATATG TACATATATGTATATATGTATATATGTACATATATACATATATGTACATA TATGTATATATGTACACATGTACATATATGTACATATGTACACATGTACA TATATGTACATATGTACATATATGTACATATATGTACATATATGTACATA TATGTACATATATGTAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0121 a0002c0001t0002g0121	1	160	0.0063	216	c.627 others(233): Show c.627+6682_627+6683insGTACATATATGTACATATATGTACATAT ATGTACATATATGTACATATATGTACATATGTACATATATGTACATGTGT ACATATGTACATATATGTACATGTGTACATATATACATATATGTACATAT ATGTATATATGTACATATATACATATATACATATATGTACATATATACAT ATATACATATATACATATATGTACATATATACATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L_chr13_112964214_113104742	113024957	A A	AGGGCAGA others(209): Show AGGGCAGAGTCTCTGTGAGGTTTCCCCATTGTGGGGTCCCCGTGACTGTG GGTCGGGGCAGAGTCCCTGTGAGGTTTCCCCGTCATGGGGTCCCCGTGAC TGTGGGTTGGGGCAGAGTCTCCGTGAGGTTTCATCATGGTGGGGTCCCCG TGACTGTGGGTTGGGGCAGAGTCTCCCTGAGGTTTCATCATGGTGGGGTC CCCGTGACTGTGGGTCG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0091 a0001c0005t0029g0091	1	116	0.0086	216	c.278 others(231): Show c.278+222_278+223insCCCATTGTGGGGTCCCCGTGACTGTGGGTC GGGGCAGAGTCCCTGTGAGGTTTCCCCGTCATGGGGTCCCCGTGACTGTG GGTTGGGGCAGAGTCTCCGTGAGGTTTCATCATGGTGGGGTCCCCGTGAC TGTGGGTTGGGGCAGAGTCTCCCTGAGGTTTCATCATGGTGGGGTCCCCG TGACTGTGGGTCGGGGCAGAGTCTCTGTGAGGTTTC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113024957	A A	AGGGCAGA others(209): Show AGGGCAGAGTCTCTGTGAGGTTTCCCCATTGTGGGGTCCCCGTGACTGTG GGTCGGGGCAGAGTCCCTGTGAGGTTTCCCCGTCATGGGGTCCCCGTGAC TGTGGGTTGGGGCAGAGTCTCCGTGAGGTTTCATCATGGTGGGGTCCCCG TGACTGTGGGTTGGGGCAGAGTCTCCGTGAGGTTTCATCATGGTGGGGTC CCCGTGACTGTGGGTCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00544.hp2 others(40): Show HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00733.hp2 HG01070.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01978.hp1 HG01993.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02738.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA19005.hp2 NA19081.hp1 NA19085.hp2 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0013 a0001c0015 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0005 a0001c0002t0016 a0001c0002t0027 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0006t0002 a0001c0012t0031 a0001c0013t0001 a0001c0015t0001 a0001c0016t0004	a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0049 others(40): Show a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0003g0099 a0001c0001t0006g0108 a0001c0001t0012g0055 a0001c0001t0017g0059 a0001c0001t0018g0077 a0001c0001t0019g0107 a0001c0002t0001g0069 a0001c0002t0005g0060 a0001c0002t0016g0054 a0001c0002t0027g0065 a0001c0003t0001g0053 a0001c0003t0002g0019 a0001c0003t0002g0042 a0001c0003t0002g0047 a0001c0003t0002g0064 a0001c0003t0002g0078 a0001c0003t0002g0111 a0001c0003t0020g0089 a0001c0004t0001g0102 a0001c0004t0004g0097 a0001c0004t0005g0095 a0001c0005t0001g0020 a0001c0005t0001g0068 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0081 a0001c0005t0001g0088 a0001c0006t0002g0110 a0001c0012t0031g0021 a0001c0013t0001g0067 a0001c0015t0001g0013 a0001c0016t0004g0085	43	116	0.3707	216	c.278 others(231): Show c.278+222_278+223insCCCATTGTGGGGTCCCCGTGACTGTGGGTC GGGGCAGAGTCCCTGTGAGGTTTCCCCGTCATGGGGTCCCCGTGACTGTG GGTTGGGGCAGAGTCTCCGTGAGGTTTCATCATGGTGGGGTCCCCGTGAC TGTGGGTTGGGGCAGAGTCTCCGTGAGGTTTCATCATGGTGGGGTCCCCG TGACTGTGGGTCGGGGCAGAGTCTCTGTGAGGTTTC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCTP1_chr5_94698690_95290094	94891141	A A	AGCCTAAC others(209): Show AGCCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0009 a0002c0008t0009	a0002c0008t0009g0008 a0002c0008t0009g0008	1	98	0.0102	216	c.184 others(235): Show c.1840-2170_1840-2169insAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAGGC	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	11/22			chr5	TogoVar
METTL26_chr16_629430_641305	631760	T T	TCCTCTCC others(209): Show TCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCAC CCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCAC TTCTTCCATCCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCT CCTATCCACTCCTCCCATCCACTTTTTCCATCCTCTTCTCTCACCCCGTC ACTGCCTCTCCTCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	216	c.28 others(227): Show c.2836_*2837insGTGGGAGGAGAGGCAGTGACGGGGTGAGAGAAGA GGATGGAAAAAGTGGATGGGAGGAGTGGATAGGAGAGGATGGAAGGAGAG GCAGTGATGGGGTGGGAGAAGAGGATGGAAGAAGTGGATGGGAGGAGTGG ATAGGAGAGGATGGAAGGAGAGGCAGTGATGGGGTGGGAGAAGAGGATGG AAGAAGTGGATGGGAGGAGTGGATAGGAGAGG	METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding		2669		chr16	TogoVar
MICAL3_chr22_17782649_18029561	17876802	T T	TGGAGGTT others(209): Show TGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATG GAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0195 a0003c0004t0001g0195	1	274	0.0037	216	c.224 others(235): Show c.2242-4780_2242-4779insCTAACCTCCATAACCTCCATAACTTC CCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCC TTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876806	G G	GGTTATGG others(209): Show GGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTAT GGAGGTTAGGGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGG TTAAGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	274	0.0037	216	c.224 others(235): Show c.2242-4784_2242-4783insTTCCCTAACCTCCTTAACCTCCCTAA CCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAAC CTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCC TAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876838	G G	GGGAGCTT others(209): Show GGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAG GTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGG TTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGG GAGGTTATGGCAGTTAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0036 a0002c0006t0036	a0002c0006t0036g0273 a0002c0006t0036g0273	1	274	0.0037	216	c.224 others(235): Show c.2242-4816_2242-4815insATAACTGCCATAACCTCCCTAACCTC CCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CTTCTCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876901	G G	GGGAGGTT others(209): Show GGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGG TTAGGGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAG GAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	274	0.0037	216	c.224 others(235): Show c.2242-4879_2242-4878insATAACTTCCCTAACCTCCTTAACCTC CCTAACCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATAA GCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877077	G G	GTTAGGGA others(209): Show GTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGT TAGGGAGGTTAGGGAGA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	274	0.0037	216	c.224 others(235): Show c.2242-5055_2242-5054insTCTCCCTAACCTCCCTAACCTCCCTC ACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTCACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877135	G G	GGGAGGTT others(209): Show GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGCAG TTATGGAGGTTAGGGAGATTATGGAGATTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0002 a0002c0040t0002	a0002c0040t0002g0261 a0002c0040t0002g0261	1	274	0.0037	216	c.224 others(235): Show c.2242-5113_2242-5112insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAATCTCCATAATCTCCCTAACCTCCATAACTGCCATAA CCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTCACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAAC TTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877211	G G	GGTTATGG others(209): Show GGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	274	0.0037	216	c.224 others(235): Show c.2242-5189_2242-5188insTTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877342	G G	GGGAGGTT others(209): Show GGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTAT GGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGG TGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATG GAGGTGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0152 a0001c0001t0010g0152	1	274	0.0037	216	c.224 others(235): Show c.2242-5320_2242-5319insATAACCTCCCTCACCTCCATAACCTC CCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAA TCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCC CTCACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877493	T T	TAGGGAGA others(209): Show TAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTA TGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20300.hp2 NA20905.hp2 HG02486.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0002c0003t0002 a0001c0001t0002 a0001c0001t0004 a0002c0003t0002	a0001c0001t0002g0264 a0001c0001t0004g0126 a0002c0003t0002g0113 a0001c0001t0002g0264 a0001c0001t0004g0126 a0002c0003t0002g0113	3	274	0.0110	216	c.224 others(235): Show c.2242-5471_2242-5470insCACCTCCATAACCTCCATAACTTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTT CCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17983410	T T	TCATCTCT others(209): Show TCATCTCTACCTATTATCCTCATGACAGAACCCTGTGCGCCCCAAGGATG GAGACCATCTCTACCTATTATCCTCATGACAGAACCCTGTGCGCCCCAAG GATGGAGACCGTCTCTACCTATTATCCTCATGACAGAACCCTGTGCGCCC CAAGGATGGAGACCATCTCTACCTATTATCCTCATGACAGAACCCTGTGC GCCCCAAGGATGGAGAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0031 a0004c0007t0031	a0004c0007t0031g0169 a0004c0007t0031g0169	1	274	0.0037	216	c.-75 others(235): Show c.-75+40870_-75+40871insGTCTCCATCCTTGGGGCGCACAGGGT TCTGTCATGAGGATAATAGGTAGAGATGGTCTCCATCCTTGGGGCGCACA GGGTTCTGTCATGAGGATAATAGGTAGAGACGGTCTCCATCCTTGGGGCG CACAGGGTTCTGTCATGAGGATAATAGGTAGAGATGGTCTCCATCCTTGG GGCGCACAGGGTTCTGTCATGAGGATAATAGGTAGAGATG	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/31			chr22	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CCTTCCCT others(209): Show CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	181	0.0055	216	c.107 others(235): Show c.1074-5162_1074-5161insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(209): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	181	0.0055	216	c.107 others(235): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MPPED1_chr22_43407014_43512848	43432704	G G	GATAAAGG others(209): Show GATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGGGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	250	0.0040	216	c.225 others(233): Show c.225-2329_225-2328insTAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGA GGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432754	A A	AGAGAGAG others(209): Show AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 NA21309.hp1 HG02559.hp1 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0006 a0001c0002t0005 a0001c0002t0006	a0001c0002t0005g0247 a0001c0002t0006g0244 a0001c0002t0006g0248 a0001c0002t0005g0247 a0001c0002t0006g0244 a0001c0002t0006g0248	3	250	0.0120	216	c.225 others(233): Show c.225-2277_225-2276insAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED2_chr11_30405224_30591353	30557225	A A	AATATATA others(209): Show AATATATATATATTATATATATTATATAATAAATATATATATAATATATA TATAATATATATATTATATATATTATATATAATATATATTATATATATTA TATATAATATATATATTATATATATATAATATATATATTATATATATTAT ATATAATATATATTATATATATATAATATATATATAATATATATTATATA TATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	262	0.0038	216	c.129 others(235): Show c.129-21051_129-21050insAATATATATATTATATATATATAATA TATATTATATATATATTATATATATATAATATATATTATATATAATATAT ATAATATATATATTATATATATATAATATATATATTATATATAATATATA TAATATATATTATATATAATATATATAATATATATATTATATATATATTA TATATATATTTATTATATAATATATATAATATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar
MRI1_chr19_13759522_13779282	13764287	A A	ACGTGGAA others(209): Show ACGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCC GTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGT GGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGG AATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGGAA TCCGCGTCCTGGGAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	460	0.0022	216	c.-30 others(225): Show c.-302_-301insCGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGC GTCCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGT CCTGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCC TGGGAACCCGTGGAATCCGCGTCCTGGGAACCCGTGGAATCCGCGTCCTG GGAACCCGTGGAATCCGCGTCCTGGGAACC	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding		234		chr19	TogoVar
MSLN_chr16_755734_773862	769162	T T	TGGCCCCG others(209): Show TGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCG GCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCC CACCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCGGCCCCACCCCCG GCCCCGGCCCCACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0028 a0028	a0028c0044 a0028c0044	a0028c0044t0002 a0028c0044t0002	a0028c0044t0002g0250 a0028c0044t0002g0250	1	388	0.0026	216	c.42 others(225): Show c.429_*430insGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCC GGCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCC CCGGCCCCACCCCCACCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCC GGCCCCACCCCCGGCCCCGGCCCCACCCCC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		301		chr16	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCAGC others(209): Show GCCCCAGCCCCGGCCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCCGGC CCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCC CAGCCCCGGCCCCGGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCG GCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCACC CCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0002 a0015c0020t0002	a0015c0020t0002g0296 a0015c0020t0002g0296	1	388	0.0026	216	c.43 others(225): Show c.431_*432insCCCCAGCCCCGGCCCCGGCCCCAGCCCCAGCCCCGG CCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCC CCGGCCCCAGCCCCAGCCCCGGCCCCGGCCCCGGCCCCACCCCCACCCCC GGCCCCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		303		chr16	TogoVar

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Search Results (Total: 10000 hits)