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
VIPR2_chr7_159023175_159149867	159088831	GGGAATGG others(487): Show GGGAATGGGAATAGCCTCAGGCCTCAGCTCCTCATCTGGGGAATGGGAAT AGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCT CGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATC TGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGA ATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGC CTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCA TCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGG GAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAG GCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCT CATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0047 a0001c0005t0047	a0001c0005t0047g0327 a0001c0005t0047g0327	1	336	0.0030	-494	c.357 others(19): Show c.357+14432_357+14925del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088856	AGCTCCTC others(487): Show AGCTCCTCATCTGGGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTC ATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATG GGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCA GGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp1 NA19043.hp2 HG02451.hp1 HG02809.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0288 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0288	3	336	0.0089	-494	c.357 others(19): Show c.357+14407_357+14900del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
CDC34_chr19_526760_547087	540125	CGTTTAGA others(486): Show CGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCC GGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGT GGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC CGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA21309.hp1 HG02559.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	328	0.0061	-493	c.498 others(16): Show c.498-1139_498-647del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132134886	TCCTCCCA others(486): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAG TATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC CCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	334	0.0030	-493	c.38 others(11): Show c.3893_*4385del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1707		chr12	TogoVar
ENOSF1_chr18_665318_717630	689845	AGGCATGA others(486): Show AGGCATGATTGTGGGGTTGGAAACTTTAGCCTATTCCCAGATAGCTGGGG AGGCGAGGGGGCTGAAGGCTGAATTGATGGCCAATGGCCAAATAATGAAT CACATCTAAATACTGAAGCCTCCATAAAACCCCCAAGGAACAGGGTTCAG AGAGCTTCCAGGTTGGTGAACACGTGGAGGTACTGGGAGTGTGGCTCACC TGGAGGGGACATGGAAGCTCTGTACCCCCTCCTCACACCTTGCCCTGTGT GTCTCTTCAGTTTGGCTGTTCTTAAGTTGCATCCTTTATAATAAATGAGT AAACATAAGTAGTGTTTCCCTGAATTCCGTGAGCCATTCCACCAAATGAT TCAACTCAAAGCGGGGTTTGTGGGAACCTCTAATCTGAGGCAAAGCCAGT CAGAAGCACAGGTGACAACGTGGACTTGTGACTGGCATCTGCCATAGGGC AGTCCTGTAAGACTGAGCCCTTAACCTGTGGGGTCTGAGGCTAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02559.hp1 HG02055.hp2 HG02257.hp1 HG02559.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0002c0015 a0009c0014 a0002c0002 a0002c0015 a0009c0014	a0002c0002t0009 a0002c0015t0002 a0009c0014t0027 a0002c0002t0009 a0002c0015t0002 a0009c0014t0027	a0002c0002t0009g0026 a0002c0015t0002g0260 a0009c0014t0027g0156 a0002c0002t0009g0026 a0002c0015t0002g0260 a0009c0014t0027g0156	3	418	0.0072	-493	c.618 others(15): Show c.618+211_618+703del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	8/15			chr18	TogoVar
GZMM_chr19_539053_554922	540125	CGTTTAGA others(486): Show CGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCC GGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGT GGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC CGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA19240.hp1 HG02559.hp1 NA19240.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0030 a0002c0010t0001g0030	2	398	0.0050	-493	c.-39 others(11): Show c.-3946_-3454del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3927		chr19	TogoVar
ITGB5_chr3_124756948_124892365	124789758	TCAGAACC others(486): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTAACAGAACCGCCTCTGACTAGACAGGGTTATC AGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACA GGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTG ACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	352	0.0028	-493	c.169 others(19): Show c.1693+6137_1693+6629del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
LHPP_chr10_124456823_124619141	124507303	TGTGGAGG others(486): Show TGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG GGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGATAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGG GGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGG GGATAGGGAGTATTTCAGGTGGGGAGGGTAGACAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	260	0.0039	-493	c.624 others(17): Show c.624+9177_625-9383del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(486): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG03654.hp1 HG03927.hp2 others(2): Show HG00609.hp1 HG03654.hp1 HG03927.hp2 HG04184.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0200 a0001c0001t0001g0215 others(2): Show a0001c0001t0001g0119 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0233	5	350	0.0143	-493	c.26 others(11): Show c.2671_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
NRG3_chr10_81870194_82992178	82478216	TTGGCTTG others(486): Show TTGGCTTGTGTCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTA TTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAG GGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAA AGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTT GTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCA TGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAA TCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTT GGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTT AGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGA CACGGCAACCATCGGAAAGGTGGGGAAAAGATTGAGAAATCCGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00639.hp2 others(25): Show HG00280.hp2 HG00438.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01952.hp1 HG02055.hp1 HG02280.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03516.hp1 HG03516.hp2 HG04204.hp1 HG04204.hp2 NA18942.hp1 NA19079.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0005t0003 a0002c0003t0004 a0003c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0029 others(25): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0054 a0001c0001t0005g0023 a0001c0001t0005g0060 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0005g0002 a0001c0002t0007g0066 a0001c0005t0003g0005 a0002c0003t0004g0055 a0002c0003t0004g0061 a0003c0004t0001g0064 a0003c0004t0001g0065	28	66	0.4242	-493	c.953 others(21): Show c.953+119366_953+119858del	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCMT1_chr6_149744741_149816419	149762789	TATACCTA others(486): Show TATACCTATGATATATATATCTATGATAATCTATGATATATATGATATAT ATATCTATGATATATATCTATGATATATATATCTATGATATATATGTTAT ATATATCTATGATATATATCTATGATATATATATCTATGATATATATGAT ATATATATCTATGATATGTATATCTATGATATATATGATATATATATCTA TGATATATATGATATATATATCTATGATATATATGATATATCTATGATAT CTATGATATGTATATCTATGATATATATATCTATGATATGTATATCTATG ATATATATGATATATATATCTATGATATGTATATCTATGATATATATGAT ATATATATCTATGATATATATCTATGATATCTATGATATATATCTATGAT ATCTATGATATATATATCTATGATATCTATGATATAAATATCTATGATAT CTATGATATATATATCTATGATATCTATGATATAAATATCTATG	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	334	0.0030	-493	c.56- others(15): Show c.56-8369_56-7877del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
POR_chr7_75910155_75991855	75942460	TTTTTTTT others(486): Show TTTTTTTTTTAGATTCCCCTCTTGATATTTGCCTTTTTGCATTATTGCAT TGCAGATCAGCCACTTCCAATTGAAGGTTAGATGAGAGCTGCTCAATTGT ACAGTTAAATGGATTTTAAAATATGGGAATTTCCTTCATACTTAGATCAA GATCTGAAAAACGCTGCTAGGGCTAGAACTAGCAGCTCAAAGTTTTTGTT TTTTTTGAGCTCAAGGTTTGAGCTCAAAAAAATGTGCAAAGGTTTTTCAC TTGTTCTAACCTTGACAGTCTAGGAATTGTATGGCGCAGGTTGACATTAC TTGTGATTCATACAATGTTAATTTCATTGAAATGACTTTACCGCAATATA AGTTTTGCATATAACTGCTGTTTTGCCTTATAATTTTAGATTGGCCTCAT TAAGAAACATCAAGTCTGCAGCAAAAGCTAATTTCCAAAGCGATTTAGTA TTTGGTAATAGTGGTTGAGGGCAGTTCTTTCTTTTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0234 a0001c0024t0001g0234	1	278	0.0036	-493	c.-13 others(19): Show c.-13-11519_-13-11027del	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX29_chr16_11971734_12579287	12013051	AGAACCGG others(486): Show AGAACCGGGGTTGGAGGGCAGAGTGAAGCAGGGACTGGGGAAGAGACAGA AGGATTGAGGTTTGGGACTGAGCCTTGATGAGATTCAGTGATTACCCAGA TGTGGAGGTTGAGAAATAATGTCATGGCTCTACCATGGAAGCTTTGCATA AAACAGCAAAGCCAAATAGCCAGCAAACATATATTAGGAAAATAAAGACA CCGAAATTCACTAGTAGTCAAGGAAATGCAAATTAAAGCAACAGTGAGCT GCCTACTTTTCACCCATCAGACTGACAAAACCTCAAAACAACAGTCAAGA TTATTGTTAGTGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTT TGGGAGGCTGAGTGGGGGACAGATTGCTTGAGGCCAGGAGTTCGAGACCA GCCTGGCCAACATAGTGAAACCCTGTCTCTACTGGGGGAAAAAAAAAAAA ATATATATATATATATATATATATATATATATATATATATATCG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19065.hp1 NA18986.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0102 a0001c0002t0005 a0001c0001t0102 a0001c0002t0005	a0001c0001t0102g0001 a0001c0002t0005g0002 a0001c0001t0102g0001 a0001c0002t0005g0002	2	176	0.0114	-493	c.122 others(19): Show c.122+10009_122+10501del	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	3/20			chr16	TogoVar
TCERG1L_chr10_131087391_131316721	131289536	TGTGTATG others(486): Show TGTGTATGTGTGCACCGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCT CCTATCAATGTGAGTGTATGTGTGCACCGCTGTGTGTGAGGTGTGCACTG CCTCCATCTCCTATCGGTGTGTGTGTGTGTATGTGTGCACTGCTGTGTGT GAGGTGTGCACTGCCTCCATCTATCAATGTGAGTGTACGTGTGCACTGCT GTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCGGTGTGAGTGTAT GTGTGCACTGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCG GTGTGTGTGTGTGTATGTGTGCACTGCTGTGTGTGAGCAGGTGTGCACTG CCTCCATCTCCTATCGGTGTGTGTGTGTATGTGTGCACTGCTGTGTGTGA GCAGGTGTGCACTGCCTCCATCTCCTATCGGTGTGTGAGTGTATGTGTGC ACTGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCG	T T	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	324	0.0031	-493	c.670 others(19): Show c.670+18182_670+18674del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	3/11			chr10	TogoVar
USP8_chr15_50419405_50519421	50454975	GTGTTGCC others(486): Show GTGTTGCCCAGGATGGTTCTCCCTTCAAATACTGACTCTTTACTTTGTCA TCTCCAATTTTGTGTTGAGTGAATTTTTTTCAGTTATATGTTTCAATTCT AGAATTTCTTCCTTTTTTTGAGACAGAGTCTCACTCTGTTGTCGAGGTTG GAGTACAGTGGCGTGATCACATCTCACTGCAACCTCAGCCTCCTGGCCTC AAGTGATTCTCCCGCCTTCACCTCCTGAACAACTGGAACTACAGATGCAC ACCACCAGGCCCAGTTAGTTTTTTTGTGTTTTTTTGTAGAGACAGGGTTT CACCATGTTGCCCAAACTGGTCTCAAGCTCTGGGCTCAAGCAGTCCTCCT ACCAGGGCCTCCCAAAGAGTTAGGATTATAGGCATGAGCCACTGCGCCCA GCCCAATTCTAGAATTTCTGTGTGGTTCTTTTTTATAGCGTCTATTATTT TTTTACAGAGATTTCCTATTTGTTCATTTATTACAAGCACATTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG02027.hp2 others(29): Show HG00140.hp1 HG00408.hp1 HG02027.hp2 HG02071.hp1 HG02257.hp1 HG03209.hp2 HG03704.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18974.hp1 NA18978.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA19000.hp1 NA19004.hp2 NA19058.hp2 NA19067.hp2 NA19079.hp2 NA19089.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0014 a0002c0003t0015 a0002c0003t0032 others(23): Show a0002c0003t0014 a0002c0003t0015 a0002c0003t0032 a0002c0003t0033 a0002c0003t0137 a0002c0003t0138 a0002c0003t0139 a0002c0003t0140 a0002c0003t0141 a0002c0003t0142 a0002c0003t0143 a0002c0003t0144 a0002c0003t0145 a0002c0003t0147 a0002c0003t0148 a0002c0003t0149 a0002c0003t0150 a0002c0003t0151 a0002c0003t0152 a0002c0003t0153 a0002c0003t0154 a0002c0003t0155 a0002c0003t0156 a0002c0007t0146 a0002c0007t0199 a0002c0007t0200	a0002c0003t0014g0037 a0002c0003t0014g0080 a0002c0003t0014g0099 others(29): Show a0002c0003t0014g0037 a0002c0003t0014g0080 a0002c0003t0014g0099 a0002c0003t0015g0079 a0002c0003t0015g0082 a0002c0003t0015g0087 a0002c0003t0032g0084 a0002c0003t0032g0085 a0002c0003t0033g0077 a0002c0003t0033g0104 a0002c0003t0137g0092 a0002c0003t0138g0003 a0002c0003t0139g0002 a0002c0003t0140g0093 a0002c0003t0141g0086 a0002c0003t0142g0098 a0002c0003t0143g0095 a0002c0003t0144g0097 a0002c0003t0145g0096 a0002c0003t0147g0078 a0002c0003t0148g0081 a0002c0003t0149g0100 a0002c0003t0150g0091 a0002c0003t0151g0089 a0002c0003t0152g0090 a0002c0003t0153g0083 a0002c0003t0154g0088 a0002c0003t0155g0076 a0002c0003t0156g0103 a0002c0007t0146g0094 a0002c0007t0199g0074 a0002c0007t0200g0075	32	382	0.0838	-493	c.336 others(17): Show c.336-4023_336-3531del	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
XPNPEP3_chr22_40852148_40937815	40890740	ACCTGTAG others(486): Show ACCTGTAGTCCCAGCTACTCAGGAGGCCAAAATGGGAGGATCACATGAGC CCAGGGAGGTCGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAG TCTGGGTGACAGAGTGAGACCCTGTCTCAATAAAGAAATAAAGAAATAGA AGACAAAATCGTGGTGTAATTATTTTGTCCCTCCCTATGCAATTTACCTC TTCTCATATACTGTATATTATTTCTCATAGGAGTCTAAATCAGAGGTCAT ATCTCTGCTCTTTCAAAATTCAAAACATCTTGAAAACAGCCAGATTTCCT TCTCAAAAAGTTACATGATTTGGCCAGATGTGGTGACTCATACCTGTAAT CCCAGCACTTCGGGAGCCCAAGACGGGTGGATCACTTGAGCCCAGGAGTT TGAAACCAACCTAGGCCTCATAGTAAGACCCCATTTCTACAAAAAAAAAA AAAAAAAAAAAAAGTTTTTAATTAGCTGCATGTGGTGGCACATG	A A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0197 a0001c0001t0006g0197	1	248	0.0040	-493	c.792 others(17): Show c.792+4244_792+4736del	XPNPEP3	ENSG00000196236.13	transcript	ENST00000357137.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
ZNF516_chr18_76352682_76500242	76393161	GAAGGCAG others(486): Show GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAG GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19077.hp1 NA18995.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0144 a0001c0001t0043 a0001c0001t0144	a0001c0001t0043g0294 a0001c0001t0144g0144 a0001c0001t0043g0294 a0001c0001t0144g0144	2	346	0.0058	-493	c.181 others(21): Show c.1811-13351_1811-12859del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393167	AGGTGGTC others(486): Show AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0149 a0001c0001t0041g0149	1	346	0.0029	-493	c.181 others(21): Show c.1811-13357_1811-12865del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ARHGAP39_chr8_144524179_144690846	144634144	AGAACTCC others(485): Show AGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCA GGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGC AGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGT CTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCC TGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAA CTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCC TCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGC GCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCC ACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTC TGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02622.hp2 others(9): Show HG02109.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02895.hp1 HG02896.hp2 HG03041.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0018t0001	a0001c0001t0001g0024 a0001c0001t0001g0228 a0001c0001t0001g0229 others(9): Show a0001c0001t0001g0024 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0222 a0001c0018t0001g0230	12	246	0.0488	-492	c.-81 others(19): Show c.-81-28941_-81-28450del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ATP11A_chr13_112685038_112892168	112785949	ATTTATCT others(485): Show ATTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCACGCACACGC GTGGACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAAC GCACGTGCCTGCGTTCAGACTCCATTTATCCTCACCGTCCTTCAAAATGG ATGAGCTAAACCCACGCACACGCGTGGACGGGCTGCACATGGGGTAAACT GTGCTTTCCAGGTAATGCGGAACACACGTGCCTGCATTCATACTCCATTT ATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCACGCACACGCGTGG ACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACGCAC GTGCCTGCGTTCAGACTCCGTTTATCTTCACCGTCCTTCAAAATGGATGA GCTAAACCCACGCACACGCGTGGACGGGCTGCACATGGGGTAAACTGTGC TTTCCAGGTAATGCGGAACGCACGTGCCTGCGTTCAGACTCCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02572.hp1 others(9): Show HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp2 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0045 a0009c0038	a0001c0001t0001 a0001c0001t0023 a0001c0002t0004 others(8): Show a0001c0001t0001 a0001c0001t0023 a0001c0002t0004 a0001c0002t0008 a0001c0002t0013 a0001c0002t0034 a0001c0009t0004 a0001c0009t0048 a0001c0009t0049 a0001c0045t0014 a0009c0038t0069	a0001c0001t0001g0065 a0001c0001t0023g0157 a0001c0001t0023g0158 others(9): Show a0001c0001t0001g0065 a0001c0001t0023g0157 a0001c0001t0023g0158 a0001c0002t0004g0041 a0001c0002t0008g0066 a0001c0002t0013g0117 a0001c0002t0034g0042 a0001c0009t0004g0140 a0001c0009t0048g0045 a0001c0009t0049g0141 a0001c0045t0014g0254 a0009c0038t0069g0044	12	254	0.0472	-492	c.162 others(16): Show c.162+733_162+1224del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CCNE1_chr19_29806991_29829312	29825761	GGAGGCTG others(485): Show GGAGGCTGAGGCAGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTGCAGT GAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCATCTCAAAAAAAAAGAAAAGAAAAGAAAATTAGCCAGGCGTGGTGGCA CACATCTGTAATCCCAGCTAGTGGGGTGGCTGAGGCAGGAGAATCACTTG AACCAGGAGGCAGCAGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCA GCCTGGGTGACGGAGTGAGACTCTATCTCATAAAAAAAAAAAAAAAAAAA AAAAGTCAGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGTGGGCGGATCACCTGAGGTTGGGAGTACAAAACAAGCCTGACCA ACATGGAGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAAAAT TAGCCAGGTGTGGTGGCACATGCTTATAATCCTAGCTACTCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(100): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18951.hp2 NA18952.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18984.hp2 NA18986.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0026 others(49): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0002g0085 a0001c0001t0007g0161 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0036 a0001c0002t0001g0046 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0181 a0001c0002t0004g0037 a0001c0003t0001g0014 a0001c0003t0001g0112 a0002c0004t0001g0003	103	426	0.2418	-492	c.19 others(11): Show c.1985_*2476del	CCNE1	ENSG00000105173.14	transcript	ENST00000262643.8	protein_coding		1450		chr19	TogoVar
CDC34_chr19_526760_547087	540298	GTGGCCAG others(485): Show GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGA ATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCG GGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGC CCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTA GAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGC CGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAG GCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCGGAGG CTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp2 HG02055.hp1 others(25): Show HG00408.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02486.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03688.hp1 NA18522.hp1 NA18982.hp1 NA19010.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0023 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0011g0023	28	328	0.0854	-492	c.498 others(16): Show c.498-1024_498-533del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DGKB_chr7_14140049_14907751	14211640	ATTTACTC others(485): Show ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTT TTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGAT TTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTC TCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0005 a0001c0003t0037g0005	1	148	0.0068	-492	c.212 others(21): Show c.2123-33981_2123-33490del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
F7_chr13_113100791_113125685	113107497	TGTGGGTG others(485): Show TGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAG GCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGG AGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGG GGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCG GGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCC GGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGAGTGTGGGTGTTC CGGAGGCGAGGGTGTCCCGGGAGTGTGCGTGTCCCGGGGGCGTGGGTGTC CCGGGGGCGTGGGTGTCCCGGGGGCGTGGGTGTTCCGGAGGCGAGGGTAT CCCAGAAGTGTGAGTGTCCCAGGGGCGTGGGTGTCCCGGGGGTGTGGGTG TCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	400	0.0025	-492	c.64+ others(15): Show c.64+1593_64+2084del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7			chr13	TogoVar
GRIN2B_chr12_13532337_13986602	13899392	TCAGTGTC others(485): Show TCAGTGTCAAGTTGAAGAGTGTTTAATCGTAGGGCAATCGGGGAGGTACC TTATGTAAGCCATGTTCAACCCAAATGAAAATGAAAATAGGCAGCAATGT CCAGAGGGGTGTTGTCTCCTCTTGGCCCAGGCATTTTTGTTAGGCACACA GCATAGTAGTAAAAAGTAACTGACACACATTAAGGAACACATTAACATTA AATCTGATTATTTCCTATGTCAAAATAATAATTTAAACCAAATAATTCAT TGTAATTAAATAAGTCAAAGGGGGACATTGCCAACTATCCACTTCCTGTT AGCTAGCATACACAAAGAAGAGCATGTTAAGATGTTGGAAACTTTTCTTA TTTTGTCTGATACTAAAACCTATGAAGACGTAGCTATGGCCATGCTTTTT TTAGAGAAATCCACAGATGTGCTTTATAGAAGACAGTATATGTACAAATT TTTTTAATTGAGGAATAATTTCACCATAGTCTTTGAGTCTATG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG01243.hp1 others(4): Show HG00140.hp1 HG01081.hp2 HG01243.hp1 HG02015.hp2 HG02293.hp1 HG04184.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0012 a0001c0013	a0001c0001t0107 a0001c0002t0027 a0001c0005t0041 others(3): Show a0001c0001t0107 a0001c0002t0027 a0001c0005t0041 a0001c0007t0140 a0001c0012t0001 a0001c0013t0001	a0001c0001t0107g0067 a0001c0002t0027g0032 a0001c0005t0041g0041 others(4): Show a0001c0001t0107g0067 a0001c0002t0027g0032 a0001c0005t0041g0041 a0001c0007t0140g0057 a0001c0012t0001g0047 a0001c0012t0001g0097 a0001c0013t0001g0121	7	194	0.0361	-492	c.-18 others(19): Show c.-18-33658_-18-33167del	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	2/13			chr12	TogoVar
GZMM_chr19_539053_554922	540298	GTGGCCAG others(485): Show GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGA ATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCG GGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGC CCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTA GAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGC CGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAG GCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCGGAGG CTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01978.hp1 others(27): Show HG01109.hp1 HG01884.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03688.hp2 NA18522.hp1 NA19010.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0007c0013 a0009c0016	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0002c0003t0001 a0007c0013t0001 a0009c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0050 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0002t0001g0106 a0001c0005t0001g0105 a0002c0003t0001g0067 a0002c0003t0001g0097 a0007c0013t0001g0098 a0009c0016t0001g0128	30	398	0.0754	-492	c.-37 others(11): Show c.-3773_-3282del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3754		chr19	TogoVar
NEDD4L_chr18_58039226_58406539	58170896	AACACTGC others(485): Show AACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCT GCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTC ATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCA GCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAG GACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACA CTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCC GCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCA CCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCC AAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACA GAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp2 HG02145.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0058 a0001c0001t0039g0012 a0001c0001t0002g0058 a0001c0001t0039g0012	2	118	0.0170	-492	c.122 others(17): Show c.122+5089_122+5580del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NKD2_chr5_1003802_1043943	1023240	GCTGTGGG others(485): Show GCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCC CACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTG TGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATT GTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCT CTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACC CTCTGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0193 a0001c0001t0019g0193	1	319	0.0031	-492	c.142 others(17): Show c.142-8900_142-8409del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023494	CGTCTCAG others(485): Show CGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGC CCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCC CTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTC CCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCT GTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCCTCTGTGGGCGTC TCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCAT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGC TCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCAC TCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGG GCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0082	1	319	0.0031	-492	c.142 others(17): Show c.142-8654_142-8163del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023867	CCAGCCCA others(485): Show CCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCAT TGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGC TCTTCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCAC CCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAG CCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTC CCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTT CCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTC TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp2 HG02886.hp2 HG00140.hp2 HG01515.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0001t0005g0081 a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0001t0005g0081	3	319	0.0094	-492	c.142 others(17): Show c.142-8258_142-7767del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024735	ATTGTCCC others(485): Show ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCC ACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTC AGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	319	0.0031	-492	c.142 others(17): Show c.142-7395_142-6904del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024921	TCTGTGGG others(485): Show TCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACC CGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00639.hp2 others(17): Show HG00140.hp1 HG00597.hp2 HG00639.hp2 HG01099.hp2 HG01192.hp2 HG01361.hp1 HG01517.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG04228.hp2 NA18612.hp1 NA18952.hp2 NA18967.hp1 NA18968.hp2 NA18995.hp2 NA19009.hp1 NA19066.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 a0001c0001t0001 a0001c0001t0002 a0001c0016t0002	a0001c0001t0001g0047 a0001c0001t0002g0005 a0001c0001t0002g0007 others(15): Show a0001c0001t0001g0047 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0134 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0261 a0001c0016t0002g0182	20	319	0.0627	-492	c.142 others(17): Show c.142-7212_142-6721del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025456	TGTGGGCG others(485): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCG TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCA CCCTCTGTGGGTGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCA GCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGT CCCTGCTCTTCCCACCCGCTAGTGGGCATCTCAGCCCGTTGTCCCTGCTC TTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCC TCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	319	0.0031	-492	c.142 others(17): Show c.142-6695_142-6204del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
PIGN_chr18_62036164_62192056	62039680	ATCCAGGG others(485): Show ATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACA TCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCAT CCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCC ATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCC AGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCAT GTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCCA GGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATG TTTAGGGCCCCATCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGAC GATGCCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGT TTAGGGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	342	0.0029	-492	c.56 others(11): Show c.5684_*6175del	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1483		chr18	TogoVar
POLH_chr6_43571185_43625523	43580586	GGGCTCCT others(485): Show GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCT CCCGGACTGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGG AGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGCGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp2 HG06807.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0014 a0004c0004t0019 a0004c0004t0014 a0004c0004t0019	a0004c0004t0014g0070 a0004c0004t0014g0071 a0004c0004t0019g0067 a0004c0004t0014g0070 a0004c0004t0014g0071 a0004c0004t0019g0067	3	262	0.0115	-492	c.-4- others(15): Show c.-4-1716_-4-1225del	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2123700	GGTAGTTA others(485): Show GGTAGTTAGGGTGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGG TGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT GTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGT TGTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGG TCACGGCGGCGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTT AGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCGTGGTGGT TAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGG CGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACG GCGACGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGT CACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCT	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19080.hp2 NA18968.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0281 a0001c0002t0001g0004 a0001c0002t0001g0281	2	286	0.0070	-492	c.335 others(19): Show c.335-11550_335-11059del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF180_chr5_64160843_64377869	64343462	AATTTTCC others(485): Show AATTTTCCAAAACTGAAGACAGACATCAGTACCTATTGATAAATCTCAGC ATAGCCTAATTAGGATAAATAGAAAGAAAACCATATCTAGAGACATCATC TAGAGCAGCCAAACTGCTGAAACCCAAATATAAAGAAAAAAATCTTAAAA ACATCTAGAAAAAAAAGTTACCTTCCAAGAAGCAAGGATGACTGACTTGA ACAGGAACACCACAGGACCAAATGGTGGAATAACATCTTTAATGTGCTCA TGGAACATTAAACATGCTGTTTAATGGCTTACTGCTAACCAAGAATTCTT TATCCAGCAAAAATATCCTTAAAAAATGAAGGTGAAATAAAGACATTTCA GGTATCCAGTAGACCTACACTACAAGAAAAACTAAAGGTAGCTCTTTAGG GCAAAAGGATCCTAGCTGGAAGCACAGAACTTTAGCAAGGAAGGTCTACT GGATACCTGAAATGTCTTTATTTCACCTTCATTTTTTAAGGAT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	250	0.0040	-492	c.157 others(21): Show c.1579+13218_1579+13709del	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1288903	TCCCGTGT others(485): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	290	0.0035	-492	c.166 others(17): Show c.1662+888_1663-855del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGTA_chr19_2749715_2788273	2773503	GTGGGTGA others(485): Show GTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGAC GCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACA CGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGA CACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGG CAGAGATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGG GTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGG CCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGC AGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGACTCC GAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACTCCGAGGGCAGA GATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 NA18906.hp1 HG03098.hp2 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0206 a0001c0003t0006g0325 a0001c0003t0006g0326 a0001c0003t0006g0206 a0001c0003t0006g0325 a0001c0003t0006g0326	3	396	0.0076	-492	c.-23 others(17): Show c.-23-4904_-23-4413del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
USP40_chr2_233470526_233571782	233567482	CTATATAA others(485): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAA GATTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03486.hp2 NA18522.hp1 HG02630.hp2 HG03486.hp2 NA18522.hp1	a0002 a0026 a0002 a0026	a0002c0008 a0026c0016 a0002c0008 a0026c0016	a0002c0008t0009 a0026c0016t0009 a0002c0008t0009 a0026c0016t0009	a0002c0008t0009g0121 a0002c0008t0009g0122 a0026c0016t0009g0115 a0002c0008t0009g0121 a0002c0008t0009g0122 a0026c0016t0009g0115	3	324	0.0093	-492	c.-13 others(10): Show c.-1310_-819del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		701		chr2	TogoVar
EHMT1_chr9_137614005_137841127	137818595	GGCGCCAT others(484): Show GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp2 HG03688.hp2 HG00323.hp1 HG01175.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045	3	170	0.0177	-491	c.354 others(17): Show c.3540+459_3540+949del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERICH1_chr8_659200_736224	675569	GTGAGGAC others(484): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGG CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02735.hp2 HG04184.hp1 others(1): Show HG00642.hp2 HG02735.hp2 HG04184.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0002t0001g0144 a0001c0002t0002g0338 a0001c0002t0002g0341 others(1): Show a0001c0002t0001g0144 a0001c0002t0002g0338 a0001c0002t0002g0341 a0001c0002t0005g0243	4	378	0.0106	-491	c.305 others(17): Show c.305-2013_305-1523del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
F7_chr13_113100791_113125685	113112357	CACTCTCA others(484): Show CACTCTCACAGGACACCTCACACAGGGCACACTTCACTCCCACAGGTCAC CATACCTCACACAGATCACCTCATACTCACAGATCACTTCATTCTCACAG GATACCTCACACTCAGGGCACACTTCACACTCACAGGTCACACCTCACAC AGATCATCTCATTCTCACAGGACACCTCCCTCTCACAGGTCACCTCACAC TCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACAG AGGTCACCTCACACGGGGCACACTTCACACTCAGGTCACCTCACACCCAC AGGACACCTCACAGAGGTCACCTCACACCCACAGGACAACTCACAGAGGT CACCTCACACAGGACACCTCACAAAGGTCACCTCACACCCACAGGACACC TCACACTCATAGGTCACCTCAGTCTTACAGGACAACTCACACTCACAGGT CACCTTACTCTCACAGGACACCTCACACTCACAGGTCACCTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03579.hp1 HG03195.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0003 a0001c0001t0004 a0002c0002t0003	a0001c0001t0004g0172 a0002c0002t0003g0066 a0001c0001t0004g0172 a0002c0002t0003g0066	2	400	0.0050	-491	c.226 others(16): Show c.226-1200_226-710del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GAL3ST2_chr2_241771822_241809287	241806648	CTCCCCCC others(484): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0125	1	314	0.0032	-491	c.24 others(11): Show c.2483_*2973del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2362		chr2	TogoVar
LARP4B_chr10_804497_936705	909151	GGGCATGG others(484): Show GGGCATGGTGGTGGGCACTTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCGAGATCGC GCCACTGCAATCCAGCCTGGGCGACAGAGCACGACTCCGTCTCAAAAAAA AAAAAAAAAAAAGGAAATTCCAAGTTGCTCAGAGAGTCAATGTCACTGAC TCCAAGCACAGAATCCAACAACAATCTTCAAATATTAGGCATTACACCTG CAGACCAGAATTGTTTCCCAGAAACAATGCAAACTGTTTAATATTAAAAT ATAGTGAATGTCCCCTAAAATTGTTACTTACAAAAGTACTTTTTACAAAA GAGACCGGGCTCTGTGGCTCATGCCTGTAATCCTGGCACTTTGGGGGGCC AAGGCAGGTGGATCACCTGAGGGCACGAGTTTGAGACCAGCCTGGCCAAC ATGGTGAAACCTCGTCTCTACTAAAAGTACAAAAATTTGGCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	288	0.0035	-491	c.-40 others(19): Show c.-40+21786_-40+22276del	LARP4B	ENSG00000107929.16	transcript	ENST00000316157.8	protein_coding	1/17			chr10	TogoVar
LY6E_chr8_143013529_143027409	143014934	GGGAGTGC others(484): Show GGGAGTGCCATGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTCC CGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGT GAGGAGGAGGGAGTCCCATGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGA GGGAGTCCCGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAGGAGGGAG TCCTGTGTGAGGAGGAAGGAGTCCCATGTGAGGAGGAGGAGGGAGTCCTG TGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGGAGTCCTGTGTGAGGA GGAGGGAGTCCTGTGTGAGGGGGAGGGAGTGCCGTGTGAGGGGGAGGGAG TCCCGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAGGGAGTCCCATGT GAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGA GGGAGTGCCGTGTGAGGGGGAGGGAGTCCCGTGTGAGGAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	377	0.0027	-491	c.-37 others(11): Show c.-3709_-3219del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3594		chr8	TogoVar
MS4A10_chr11_60780333_60806305	60803957	GTTTGTTT others(484): Show GTTTGTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAG TGGCGCCATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCAATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCAC GCCTGGCTGATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCGTGGTA GCCAGGATGGTCTCGATCTCCCGACCTCATGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGACTACCGGCGTGAGCCACCACACCCAGCCTGGGACAG CTATATCTTTAACACCTAACACTTGTTCTTCCTTCCTTTTACTAAGACAG CAAGCCCAGCGTGCAGCAGGCAATCGTATAGAGCCAGAATTCGACAACAC AGTTTTGTTCCCATTGGGTTTTTTTTTTTTTTTTTGGTTTTTGGTTTTTT TTGTGCTGTTTTGTTTTGGTTTTTTGTTTGTTTTTTTGTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp2 others(24): Show HG00099.hp2 HG00280.hp2 HG00642.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG02071.hp1 HG02083.hp2 HG02293.hp1 HG02735.hp1 HG02922.hp2 HG02970.hp2 HG03471.hp1 HG03704.hp1 HG04199.hp1 NA18971.hp1 NA18995.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022 a0001c0001t0032 a0001c0001t0037	a0001c0001t0004g0003 a0001c0001t0004g0046 a0001c0001t0004g0049 others(7): Show a0001c0001t0004g0003 a0001c0001t0004g0046 a0001c0001t0004g0049 a0001c0001t0004g0082 a0001c0001t0004g0101 a0001c0001t0007g0052 a0001c0001t0021g0048 a0001c0001t0022g0003 a0001c0001t0032g0003 a0001c0001t0037g0003	27	432	0.0625	-491	c.40 others(11): Show c.4049_*4539del	MS4A10	ENSG00000172689.2	transcript	ENST00000308287.2	protein_coding		2653		chr11	TogoVar
NEU4_chr2_241804193_241822413	241806648	CTCCCCCC others(484): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	319	0.0031	-491	c.-26 others(11): Show c.-2629_-2139del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2544		chr2	TogoVar
SLC9A3_chr5_465456_529449	486973	GACCGCAC others(484): Show GACCGCACTGACACCCACCGCACTGACACCGTGATCCAGACCGCACTGAC ACCCACCACACTGACACCCACCGCACTGACACCCACCACACTGACACCCA CCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACAC CCACCACACTGACACCCACCGCACTGACACCCACCACACTGACACCGTGA TCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACCC ACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACA CCCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTG ACACCCACCACACTGACACCCACCGCACTGACACCCACCACACTGACACC GTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGAC ACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp2 HG02897.hp1 others(3): Show HG02257.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp2 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0022 a0001c0001t0001g0155 a0001c0001t0001g0156 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0014g0060 a0001c0001t0014g0061	6	218	0.0275	-491	c.675 others(16): Show c.675+852_675+1342del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
ZNF516_chr18_76352682_76500242	76393487	TGGGGGGA others(484): Show TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18946.hp1 NA18954.hp2 others(2): Show HG03491.hp2 NA18946.hp1 NA18954.hp2 NA18967.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0030	a0001c0001t0004g0081 a0001c0001t0005g0201 a0001c0001t0010g0313 others(2): Show a0001c0001t0004g0081 a0001c0001t0005g0201 a0001c0001t0010g0313 a0001c0001t0012g0213 a0001c0001t0030g0310	5	346	0.0145	-491	c.181 others(21): Show c.1811-13675_1811-13185del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar

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Search Results (Total: 10000 hits)