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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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDC34_chr19_526760_547087	545099	A A	ATCCCTCC others(696): Show ATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCT CCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCA TCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCA TCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCTCCACCCGTCGTCCC TCCCTCCCTCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTCT TCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCC CTCCTTCCATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTC CATGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTC CTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCT CCTTCCCTCCACCCATCATCCCTCCCTCCCTCCTTCCATGTATCCACCCA TCCATCCATCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCT CCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCC TTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	328	0.0031	703	c.35 others(714): Show c.3547_*3548insTCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCC CTCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTC CCCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTC CATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTAT CCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCT CCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCC TCCACCCGTCGTCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCC ATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCC ATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCTCCACCCGTCATCC CTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTC TTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATC CCTCCTTCCATCCCTCCTTCCCTCCACCCATCATCCCTCCCTCCCTCCTT CCATGTATCCACCCATCCATCCATCATGACTCTCTCTTCCTTTCCCCCCT CCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCC TCCTTCCTCCCTCCCTTTG	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding		3013		chr19	TogoVar
CDON_chr11_125951821_126067866	126065143	G G	GTGATAGT others(696): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATGATAGTATTAAGAGGTGATGA TAGTATTAAGAGGTGATGATAGTATTAAGAGGTGATGATAGTATTAAGAG GTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0010 a0002c0002t0066g0010	1	334	0.0030	703	c.-26 others(714): Show c.-2627_-2626insTCACCTCTTAATACTATCATCACCTCTTAATACT ATCATCACCTCTTAATACTATCATCACCTCTTAATACTATCATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2278		chr11	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(696): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGAGGG AGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGA GGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGG GGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGC AGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGG AGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA18747.hp1 HG02080.hp2 NA18747.hp1	a0000 a0001 a0000 a0001	a0000c0006 a0001c0001 a0000c0006 a0001c0001	a0000c0006t0004 a0001c0001t0004 a0000c0006t0004 a0001c0001t0004	a0000c0006t0004g0095 a0001c0001t0004g0088 a0000c0006t0004g0095 a0001c0001t0004g0088	2	168	0.0119	703	c.-26 others(712): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCT CCTCCCCCCTCCCCTGCTCCCTCTCCTCCCCCCTCCCCTGCTCCCCCTCC TCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCTGCTC CCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(696): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGA GGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGG GGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGC AGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGG AGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG02486.hp2 HG02896.hp2 others(2): Show HG01993.hp2 HG02486.hp2 HG02896.hp2 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0004g0083 others(1): Show a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0004g0083 a0001c0001t0004g0085	5	168	0.0298	703	c.-26 others(712): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCT CCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCC TCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCTGCTC CCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CLPTM1L_chr5_1312752_1350099	1333251	C C	CGGATGAG others(696): Show CGGATGAGGATAAGGGGGGACTACTGTATACACACACGGGATGAGGATAA GGGGGGACTACTGTATACACACGGGATGAGGATGAGGGACTATTGTATAC ACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGAT AAGGGGGGACTACTGTATACACACCAGATGAAGATAAGGGGGGACTACTG TAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG AGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGAC TACTGTAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACC GGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGGACTACTGTAAACACACGGGATGAGGATGAGGGACTATTGTATACACA CCAGATGAGGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAG GGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAT ACACACCGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGG ATAAGGGGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTATACACACCGGATGAGGATAAGGGGGGGACTACTGTATACACACCGG ATGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp2 HG00438.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	370	0.0054	703	c.891 others(720): Show c.891+1037_891+1038insTCATCCGGTGTGTATACAGTAGTCCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAG TCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTC ATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTATCTAC AGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCC TCATCCCGTGTGTTTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCT TATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCCTCATCTGGTG TGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCTTCATC TGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCA TCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTATA CAGTAGTCCCCCCTTATCCTCATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
DCDC2C_chr2_3698575_3853008	3725522	A A	AGAGGGAG others(696): Show AGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGG AGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0180 a0001c0006t0002g0180	1	324	0.0031	703	c.340 others(720): Show c.340-1477_340-1476insGAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGA TCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC GGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCGGAGG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725566	A A	AGAGGAAG others(696): Show AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAG GGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATG AGCAGGGAGTGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0272 a0001c0001t0012g0272	1	324	0.0031	703	c.340 others(720): Show c.340-1395_340-1394insCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAG GATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGC CCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCAGGTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPEP1_chr16_89608642_89643433	89619039	T T	TGCTCCCC others(696): Show TGCTCCCCTCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCC CCCCTGCCCCCCCCGCTCCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG TAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCCGCTCCCC TCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCC CCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	250	0.0040	703	c.-10 others(722): Show c.-107+5330_-107+5331insTGCAGCTCCCTGCCCCCCCCTGCTCC CCTCCCTGCAGCCCCCCTGCCCCCCCCGCTCCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCC TGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC GCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCC CCCTGCTCCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCC CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGC AGCCCCCCTGCCCCCCCGCTCCCCTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYSF_chr2_71448561_71691763	71618390	T T	TGTGTGTG others(696): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGA GGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG TGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGA GGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTG TTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGG GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTG TGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGT GTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAG TAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA GGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	192	0.0052	703	c.441 others(722): Show c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGCGTATATGTGT GTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGT GTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG GTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGT GTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGG TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGG TACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTG GTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618390	T T	TGTGTGTG others(696): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGA GGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG TGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGA GGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTG TTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGG GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTG TGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGT GTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAG TAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA GGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	208	0.0048	703	c.446 others(722): Show c.4465-2144_4465-2143insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGCGTATATGTGT GTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGT GTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG GTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGT GTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGG TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGG TACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTG GTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(696): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCG CTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGA AGGC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	384	0.0026	703	c.215 others(720): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTG AGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCT GGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(696): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCG CTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGA AGGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01109.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0003g0072 a0001c0001t0001g0070 a0001c0001t0003g0072	2	384	0.0052	703	c.215 others(720): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTG AGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCT GGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(696): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCG CTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGA AGGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0324 a0001c0003t0001g0324	1	384	0.0026	703	c.215 others(720): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTG AGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCT GGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGTGAG others(696): Show GGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCG CTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGA AGGC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	384	0.0026	703	c.215 others(720): Show c.2155-379_2155-378insTGAGCTCTTCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AAGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTG AGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCT GGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
F13A1_chr6_6139084_6325662	6262021	G G	GTGACCCT others(696): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGC GTGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01257.hp2 HG00738.hp2 HG01109.hp2 HG01257.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0015 a0005c0005 a0003c0003 a0003c0015 a0005c0005	a0003c0003t0001 a0003c0015t0001 a0005c0005t0002 a0003c0003t0001 a0003c0015t0001 a0005c0005t0002	a0003c0003t0001g0205 a0003c0015t0001g0091 a0005c0005t0002g0270 a0003c0003t0001g0205 a0003c0015t0001g0091 a0005c0005t0002g0270	3	292	0.0103	703	c.571 others(720): Show c.571+4536_571+4537insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FERMT1_chr20_6069845_6128030	6125413	C C	CTGTCCTA others(696): Show CTGTCCTAGGCTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTT TATTATTTTTTTATTTTTATTTATTTATTTATTTTTTTTATTATACTCTA AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATT CCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATA GTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGAT ATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTG CCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCC AAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTG TCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGG GATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCC ACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGT AAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0019 a0001c0022t0019	a0001c0022t0019g0201 a0001c0022t0019g0201	1	368	0.0027	703	c.-26 others(714): Show c.-2659_-2658insTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACT ATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAG ACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCC ATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGA AACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCA TATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGA GGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTG CAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAATAAATAAATAA ATAAAAATAAAAAAATAATAAAAAAATAAAACCCCCTAAAAAAAAAAAAA AAAAAAAAAGCCTAGGACA	FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding		2384		chr20	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(696): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATATGTATATACATATATATATATGTATATACAT ATAAATATATATGTATATACATATAAATATATATGTATATACATATAAAT ATATATGTATATACATATAAATATATATGTATATACATATAAATATATAT GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATTTACA TACATATAAATATATATTTACATACATATAAATATATACATTTATATACA TATAAATATATACATATATACATATAAATATATATTTATATACATATAAA TATATATATTTATATATATTTATATATATATAAATATATATATATTTATA TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	292	0.0034	703	c.51 others(714): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATACATATATATTTATATGTATATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATATATGTATATAC ATATATATATATATGTATATACATATATATATGTATATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATTTATATGTAT ATACATATATATTTATATGTATATAAATATATATTTATATGCATATAAAT ATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999036	C C	CATATAAA others(696): Show CATATAAATATATATGTATATACATATAAATATATATGTATATACATATA TATATGTATATACATATATATATATGTATATACATATATATATGTATATA CATATATATATATGTATATACATATAAATATATATGTATATACATATAAA TATATATGTATATACATATAAATATATATGTATATACATATAAATATATA TGTATATACATATAAATATATATGTATGTATATTATATACATATAAATAT ATATATTTATATACATATAAATATATATATTTATATACATATAAATATAT ATATTTATATACATATAAATATATATATTTATATACATATAAATATATAT TTATATACATATAAATATATATTTATATACATATAAATATATATTTATAT ACATATAAATATATATTTACATACATATAAATATATATTTACATACATAT AAATATATACATTTATATACATATAAATATATACATATATACATATAAAT ATATATTTATATACATATAAATATATATATTTATATATATTTATATATAT ATAAATATATATATATTTATATATATATAAATATATATATATTTATATAT ATATAAATATATATATATTTATATATATATACATATAAATATATAATTAT ATACATATAAATATATAATTATATACATATAAATATATAATTATATACAT ATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0106 a0001c0030t0001g0106	1	292	0.0034	703	c.50 others(714): Show c.5015_*5016insTTATATGTATATAATTATATATTTATATGTATAT AATTATATATTTATATGTATATAATTATATATTTATATGTATATATATAT AAATATATATATATTTATATATATATAAATATATATATATTTATATATAT ATAAATATATATATATTTATATATATATAAATATATATAAATATATATAT TTATATGTATATAAATATATATTTATATGTATATATGTATATATTTATAT GTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATGTAT GTAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAAT ATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATAT ATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATAT TTATATGTATATAAATATATATATTTATATGTATATAATATACATACATA TATATTTATATGTATATACATATATATTTATATGTATATACATATATATT TATATGTATATACATATATATTTATATGTATATACATATATATTTATATG TATATACATATATATATATGTATATACATATATATATGTATATACATATA TATATATGTATATACATATATATATGTATATACATATATATTTATATGTA TATACATATATATTTATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4237		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(696): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTC TCTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTT CCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCC CTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCT CCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTC TCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTC CATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTC TCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCC CCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCC TTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCT CCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTC CCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTCTGTCCCCCTCTCCCTGT CTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01517.hp2 NA18947.hp2 others(1): Show HG00738.hp1 HG01517.hp2 NA18947.hp2 NA18971.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0008	a0001c0001t0009 a0001c0002t0008 a0001c0003t0005 others(1): Show a0001c0001t0009 a0001c0002t0008 a0001c0003t0005 a0004c0008t0007	a0001c0001t0009g0094 a0001c0002t0008g0220 a0001c0003t0005g0212 others(1): Show a0001c0001t0009g0094 a0001c0002t0008g0220 a0001c0003t0005g0212 a0004c0008t0007g0063	4	230	0.0174	703	c.126 others(720): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAAAGGGCGGGGGAGAGAGGG AGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAG AGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGGAGAGAGG GAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGGGGA GACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGGG AGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGG GGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAG AGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAG AGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGA GAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGG AAGGGGAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAG AGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGG GAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FUT7_chr9_137025174_137037088	137034333	A A	AGAGGGGG others(696): Show AGAGGGGGGGTTTGGAGGGAGGGGGGCTGGAGGGAGGGGGCTTGGAGGGA GGGGGTTTGGGGAGGCTAAAGGGAGGGGAACTTGGAAGGAGGGGGGTTTG GAGGGAGAGGGGTTTGGAGGGAGGGTGGCTTGGAGGGAGGGGGGGTTTGG AGGGAGGGGCTTGGAGAGAGGGGGGTTTGGAGGGAGGGGGCTGGAGGGAG GGAGCTTGGAGGGGAGCTTGGAGGGGGTTCGGAGGGGGGGCTTGGAGGGA GGGGGAGTTTGGAGGGAGGGGAGCTTGGAGGGAGGGGGGTTTTAGAGCGG AGGGAGCTGGAGGGAGGGGAGCTTGGAGGGGAGCTTGGAGGGAGGGGGTT CGGAGGGGGGGACTTGGAGGGAGGGGGCTTGGAGGGAGGGGGGCTTGGGA GGGAGGGGGGCTTGGAGGGAGGGGAGTTTGGAGGGAGGGGGCTGGAGGGA GGGGAGCTTGGTGGAGGAGCTTGGAGGGAGGGGAGCTTGGAAGGAGGGGG GTTTGGAGGGAGGGGGTTTGGAGGTGAGGGCGGCTTGGAGGGAGGGGGGG TTTGGAGGGGGGGGGCTTGGAGAGGGGGGTTTGGAAGGAGGGGACGAGGG AGGTGGGAGCTTGGGAGGGGAGCTTGGAGGGAGGGGGTTCGGAGTGGGGG CTTGGAGGGAGGGGGCTTGGAGGGAGGGGGCTTGGAGGGAGGGGGGCTTG GAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	358	0.0028	703	c.-23 others(714): Show c.-2343_-2342insCCTCCAAGCCCCCCTCCCTCCAAGCCCCCTCCCT CCAAGCCCCCTCCCTCCAAGCCCCCACTCCGAACCCCCTCCCTCCAAGCT CCCCTCCCAAGCTCCCACCTCCCTCGTCCCCTCCTTCCAAACCCCCCTCT CCAAGCCCCCCCCCTCCAAACCCCCCCTCCCTCCAAGCCGCCCTCACCTC CAAACCCCCTCCCTCCAAACCCCCCTCCTTCCAAGCTCCCCTCCCTCCAA GCTCCTCCACCAAGCTCCCCTCCCTCCAGCCCCCTCCCTCCAAACTCCCC TCCCTCCAAGCCCCCCTCCCTCCCAAGCCCCCCTCCCTCCAAGCCCCCTC CCTCCAAGTCCCCCCCTCCGAACCCCCTCCCTCCAAGCTCCCCTCCAAGC TCCCCTCCCTCCAGCTCCCTCCGCTCTAAAACCCCCCTCCCTCCAAGCTC CCCTCCCTCCAAACTCCCCCTCCCTCCAAGCCCCCCCTCCGAACCCCCTC CAAGCTCCCCTCCAAGCTCCCTCCCTCCAGCCCCCTCCCTCCAAACCCCC CTCTCTCCAAGCCCCTCCCTCCAAACCCCCCCTCCCTCCAAGCCACCCTC CCTCCAAACCCCTCTCCCTCCAAACCCCCCTCCTTCCAAGTTCCCCTCCC TTTAGCCTCCCCAAACCCCCTCCCTCCAAGCCCCCTCCCTCCAGCCCCCC TCCCTCCAAACCCCCCCTC	FUT7	ENSG00000180549.8	transcript	ENST00000314412.7	protein_coding		2246		chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241807847	C C	CCTCCCTC others(696): Show CCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCC TCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCCTCAACCCAGGGACCTCTGCAGGC CACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	314	0.0032	703	c.36 others(714): Show c.3681_*3682insCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCCTCAAC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTC CGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCT CTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCCTCAACCCA GGGACCTCTGCAGGCCACT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3561		chr2	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(696): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCACCATAATC ACCATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAAT CACCATCACCACCACCACCATAATCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCACCACCACCACCATCACCACCACCACCACCATCA TCATCACCACCACCACCACCATCACCACCACCACCACCATCATCACCATC ATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCAC CATCATCATCACCACCATCACCACCACCATCATCATCACCACCACCACCA TCACCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCACC ACCACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGCAC CACCAACACCATCATCACCACCACCACCATCACCACCACCATCCCCATCA TCAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02451.hp1 HG02559.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0007 a0004c0011t0023 a0004c0011t0007 a0004c0011t0023	a0004c0011t0007g0124 a0004c0011t0023g0007 a0004c0011t0007g0124 a0004c0011t0023g0007	2	128	0.0156	703	c.116 others(722): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ACCATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCAC CACCATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CAATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCACCACCACCACCATCACCACCACCA CCACCATCATCATCACCACCACCACCACCATCACCACCACCACCACCATC ATCACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCAC CACCACCACCATCATCATCACCACCATCACCACCACCATCATCATCACCA CCACCACCATCACCACCACCACCACCATGACCACCACCACCACCCTCATC ACCACCACCACCACCATCACCATTACCACTACCACCGCCACCATCATCAC CACCAGCACCACCAACACCATCATCACCACCACCACCATCACCACCACCA TCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(696): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATC ATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCAC CATCATCATCACCACCATCACCACCACCATCATCATCACCACCACCACCA TCACCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCACC ACCACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGCAC CACCAACACCATCATCACCACCACCACCATCACCACCACCATCCCCATCA TCAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(74): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG02040.hp2 HG02055.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18906.hp1 NA18948.hp2 NA18960.hp1 NA18960.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0016 a0001c0017 a0001c0018 a0001c0020 a0002c0008 a0005c0013 a0007c0019 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0020 a0001c0004t0001 a0001c0004t0002 a0001c0004t0027 a0001c0005t0001 a0001c0005t0003 a0001c0005t0013 a0001c0006t0001 a0001c0006t0002 a0001c0006t0005 a0001c0006t0007 a0001c0006t0010 a0001c0006t0011 a0001c0007t0001 a0001c0007t0003 a0001c0007t0004 a0001c0007t0021 a0001c0009t0002 a0001c0009t0012 a0001c0012t0007 a0001c0016t0001 a0001c0017t0001 a0001c0018t0003 a0001c0020t0001 a0002c0008t0006 a0005c0013t0004 a0007c0019t0022 a0008c0021t0001	a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0116 others(74): Show a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0002g0013 a0001c0001t0002g0106 a0001c0001t0002g0120 a0001c0001t0003g0025 a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0114 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0028 a0001c0001t0004g0047 a0001c0001t0004g0075 a0001c0001t0004g0102 a0001c0001t0004g0125 a0001c0001t0006g0009 a0001c0001t0013g0032 a0001c0001t0017g0076 a0001c0001t0018g0040 a0001c0002t0001g0023 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0081 a0001c0002t0004g0015 a0001c0002t0005g0010 a0001c0002t0009g0036 a0001c0002t0010g0128 a0001c0002t0012g0001 a0001c0003t0001g0005 a0001c0003t0002g0012 a0001c0003t0003g0026 a0001c0003t0003g0039 a0001c0003t0003g0127 a0001c0003t0004g0045 a0001c0003t0004g0048 a0001c0003t0020g0043 a0001c0004t0001g0037 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0078 a0001c0004t0002g0099 a0001c0004t0027g0069 a0001c0005t0001g0031 a0001c0005t0001g0095 a0001c0005t0001g0126 a0001c0005t0003g0073 a0001c0005t0013g0052 a0001c0006t0001g0049 a0001c0006t0002g0074 a0001c0006t0005g0004 a0001c0006t0005g0016 a0001c0006t0007g0088 a0001c0006t0007g0103 a0001c0006t0010g0113 a0001c0006t0011g0112 a0001c0007t0001g0115 a0001c0007t0003g0027 a0001c0007t0003g0046 a0001c0007t0003g0068 a0001c0007t0004g0101 a0001c0007t0021g0070 a0001c0009t0002g0100 a0001c0009t0012g0002 a0001c0012t0007g0018 a0001c0016t0001g0041 a0001c0017t0001g0071 a0001c0018t0003g0051 a0001c0020t0001g0086 a0002c0008t0006g0097 a0005c0013t0004g0021 a0007c0019t0022g0014 a0008c0021t0001g0110	77	128	0.6016	703	c.116 others(722): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CAATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCA CCACCACCATCATCATCACCACCACCACCACCATCACCACCACCACCATC ATCACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCAC CACCACCACCATCATCATCACCACCATCACCACCACCATCATCATCACCA CCACCACCATCACCACCACCACCACCATGACCACCACCACCACCCTCATC ACCACCACCACCACCATCACCATTACCACTACCACCGCCACCATCATCAC CACCAGCACCACCAACACCATCATCACCACCACCACCATCACCACCACCA TCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(696): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATC ATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCAC CATCATCATCACCACCATCACCACCACCATCATCATCACCAGCATCACCA TCACCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCACC ACCACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGCAC CACCAACACCATCATCACCACCACCACCATCACCACCACCATCCCCATCA TCAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0123 a0001c0003t0025g0123	1	128	0.0078	703	c.116 others(722): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CAATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCA CCACCACCATCATCATCACCACCACCACCACCATCACCACCACCACCATC ATCACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCAC CACCACCACCATCATCATCACCACCATCACCACCACCATCATCATCACCA GCATCACCATCACCACCACCACCACCATGACCACCACCACCACCCTCATC ACCACCACCACCACCATCACCATTACCACTACCACCGCCACCATCATCAC CACCAGCACCACCAACACCATCATCACCACCACCACCATCACCACCACCA TCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(696): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACCATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATC ATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCAC CATCATCATCACCACCATCACCACCACCATCATCATCACCACCACCACCA TCACCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCACC ACCACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGCAC CACCAACACCATCATCACCACCACCACCATCACCACCACCATCCCCATCA TCAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp2 HG02896.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0024 a0001c0001t0008 a0001c0001t0024	a0001c0001t0008g0082 a0001c0001t0024g0083 a0001c0001t0008g0082 a0001c0001t0024g0083	2	128	0.0156	703	c.116 others(722): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CCATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCA CCACCACCATCATCATCACCACCACCACCACCATCACCACCACCACCATC ATCACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCAC CACCACCACCATCATCATCACCACCATCACCACCACCATCATCATCACCA CCACCACCATCACCACCACCACCACCATGACCACCACCACCACCCTCATC ACCACCACCACCACCATCACCATTACCACTACCACCGCCACCATCATCAC CACCAGCACCACCAACACCATCATCACCACCACCACCATCACCACCACCA TCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(696): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCATCATCATCATCA CCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCATCA CCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCA TCATCATCACCACCACCACCACCATCACCACCACCACCACCATCATCACC ATCATCACCACCACTATCATCATCATCACCACCATCACCACCACCACCAC CATCATCATCACCACCATCACCACCACCATCATCATCACCACCACCACCA TCACCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCACC ACCACCATCACCACCACCATCACCACCACCATCATCATCACCACCAGCAC CACCAACACCATCATCACCACCACCACCATCACCACCACCATCCCCATCA TCAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0026 a0003c0010t0026	a0003c0010t0026g0064 a0003c0010t0026g0064	1	128	0.0078	703	c.116 others(722): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCATCA TCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCACAA TCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATCACC ATCACCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCA CCACCACCATCATCATCACCACCACCACCACCATCACCACCACCACCACC ATCATCACCATCATCACCACCACTATCATCATCATCACCACCATCACCAC CACCACCACCATCATCATCACCACCATCACCACCACCATCATCATCACCA CCACCACCATCACCACCACCACCACCATGACCACCACCACCACCCTCATC ACCACCACCACCACCATCACCACCACCATCACCACCACCATCATCATCAC CACCAGCACCACCAACACCATCATCACCACCACCACCATCACCACCACCA TCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GZMM_chr19_539053_554922	545099	A A	ATCCCTCC others(696): Show ATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCT CCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCA TCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCA TCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCTCCACCCGTCGTCCC TCCCTCCCTCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTCT TCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCC CTCCTTCCATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTC CATGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTC CTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCT CCTTCCCTCCACCCATCATCCCTCCCTCCCTCCTTCCATGTATCCACCCA TCCATCCATCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCT CCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCC TTTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	398	0.0025	703	c.55+ others(716): Show c.55+984_55+985insCTCCACCCGTCATCCCTCCCTCCCTCCTTCCA TGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCT TCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCC TTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATCCACCCATC CATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCC CATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCTCCACCCGT CGTCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCATCATGCCT CTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCAT CCATCCCTCCTTCCATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCC TCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCC CCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCC ATCCCTCCTTCCCTCCACCCATCATCCCTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTC CCTCCCTTTGTCCCTCCTTCC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
HLA-DRB1_chr6_32573775_32594848	32587399	A A	AAATAAAT others(696): Show AAATAAATTGAATATAAATTGACTCTCCTTGTAACCATACAGTAGCTTCT CGTATCTATTTAAATAAAATTCAGTCCGGCCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATTATCTGAGGTCAGGAG TTCGAGACCAGCATGGTCAACATGGTGATACCCCATGTCTACTAAAAATA CAAAAAAATAAAAATTAGCCAGGTATGGTGGTGGGTGCCTGTAATCTCAG ATACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGG TTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAA CGAAACTCCGTCTCAAAAAAAAAAAAATAGGCCAGGCGTGGTGGCTCACA CCTGTAGTCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCA GGAGATGGAGACCACCCTGGCTAACATGACGAAATGCCCTCACTACTAAA AATACTAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTA CTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGCTTG CAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGCGAG ACTCCATCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATA AAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG03041.hp2 others(2): Show HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03540.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0003 a0011c0012t0003	a0011c0012t0003g0009 a0011c0012t0003g0009	5	208	0.0240	703	c.100 others(720): Show c.100+2243_100+2244insATTTTATTTATTTATTTATTTATTTATT TATTTATTTATTTTTTGAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGAG TGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCGCC ACCACACCTGGCTAATTTTTAGTATTTTTAGTAGTGAGGGCATTTCGTCA TGTTAGCCAGGGTGGTCTCCATCTCCTGACCTCGTGATCCACCTGCCTCG GCCTCCCAAAGTGCTGAGACTACAGGTGTGAGCCACCACGCCTGGCCTAT TTTTTTTTTTTTGAGACGGAGTTTCGTTCTTGTTGCCCAGGCTGGAGTGC AATGGTGCAATCTCGGCTCACTGCAACCTTCGCCTCCCTGGTTCAAGTGA TTCTCCTGCCTCAGCTTCCCAAGTATCTGAGATTACAGGCACCCACCACC ATACCTGGCTAATTTTTATTTTTTTGTATTTTTAGTAGACATGGGGTATC ACCATGTTGACCATGCTGGTCTCGAACTCCTGACCTCAGATAATCTGTCT GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGGCCG GACTGAATTTTATTTAAATAGATACGAGAAGCTACTGTATGGTTACAAGG AGAGTCAATTTATATTCAATTTATT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	1/5			chr6	TogoVar
KIF25_chr6_167992671_168050091	167997234	G G	GGGGTCGG others(696): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAG AGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	375	0.0027	703	c.-22 others(714): Show c.-2235_-2234insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGG CGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		436		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997259	G G	GGGGGCGG others(696): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGC AGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	375	0.0027	703	c.-22 others(714): Show c.-2210_-2209insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGA ATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		411		chr6	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(696): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCC CTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0097 a0002c0002t0012g0097	1	370	0.0027	703	c.-27 others(714): Show c.-2761_-2760insTGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(696): Show TCCTCTCCCTCTCCCTCCTCTCCCCTCCTCTCCCTCTCCCTCCTCTCCAC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCTCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTC CCTCTCCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCT CTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	703	c.-27 others(714): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGGGAGAGGGA GAGGGAGAGAGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGTGGAGAGGAGGGAGAGGGAGAGGAGGGGA GAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(696): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATATTA TTTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02165.hp2 HG00642.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0174 a0001c0001t0001g0067 a0001c0001t0001g0174	2	260	0.0077	703	c.125 others(720): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATATTATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(696): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTTTATATATTTATGTATATTTATATATATTTA TATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTTA TATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTA TATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTTA TACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATGT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT ATTATTTATATATATATTTATATATATTTATATATATTTATATATATTTA TATA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	260	0.0039	703	c.125 others(720): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTTTATATATTT ATGTATATTTATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTATATATATATTTATATGTATTTATATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATATAT ATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATATTATTTATATATATATTTATATATATTT ATATATATTTATATATATTTATATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMF1_chr16_848634_975984	857698	C C	CGGGTGTG others(696): Show CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCA GTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GCGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCG GGAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	294	0.0034	703	c.153 others(722): Show c.1530-2993_1530-2992insATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGA CACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG TGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACA CCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTGCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(696): Show GGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGG GAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGG GAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAG GAGGGGGGAGGAGGGAGAGAAGGGGGAGGAGGGGGAAAAAGGGGGAGGAG GCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGT GAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGA GAGAAGAGTGAAGAGGGAGAGGAGGGGGAGGAGGGAGAGAAGGGGGGAGG AGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGA GGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAG GGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGGA GGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTG GAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTGA GGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGG TAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGGGGG AGGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	280	0.0036	703	c.641 others(718): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCC TCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTC CTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTC CCCCCTCCTCTCCCTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(696): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAA GGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCA GCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTT GCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAG CAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGC AATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGC TCAGCTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCCGGGT TCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGT GCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTC ACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGCCCGC CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA19059.hp1 NA18974.hp2 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0020 a0002c0002t0012g0020	2	418	0.0048	703	c.23 others(714): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCCTG CGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTTTT TTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCG CGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGTCT GCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGG CTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTTTT TTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(696): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGAAAGGGGTG AGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGG GGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGG GGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGA GTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGG GAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGG AGGGGAGTGGAGGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGG GTGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	272	0.0037	703	c.250 others(718): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCC CTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCC CCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCC TCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(696): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGA GGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGG GGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAG GGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAG GAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAAGGGAGG GTGG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	272	0.0037	703	c.250 others(718): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCT CCCCTCACCCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTT CCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCC TTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCC CTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCC CCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(696): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATAT AAATATATAAATATAAATATATAAATATATATATATAATTATATATATAT ATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTC TTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAAT ATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTA TATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01099.hp2 others(28): Show HG00280.hp2 HG00733.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01256.hp1 HG01346.hp2 HG01496.hp2 HG01981.hp1 HG02155.hp2 HG02300.hp1 HG02572.hp2 HG02698.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp1 NA18984.hp2 NA19004.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0001 a0001c0001t0002 a0001c0001t0019	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(28): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0002g0154 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0019g0077	31	312	0.0994	703	c.293 others(722): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTT GGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATAT ATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATA TATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(696): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATAT AAATATATAAATATAAATATATAAATATATATATATAATTATATATATAT ATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTC TTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAAT ATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTA TATG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18974.hp1 NA19007.hp1 others(1): Show HG00558.hp2 NA18974.hp1 NA19007.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0001g0243 others(1): Show a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0262	4	312	0.0128	703	c.293 others(722): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTT GGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATAT ATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATA TATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(696): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATAT AAATATATAAATATAAATATATAAATATATATATATAATTATATATATAT ATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTC TTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAAT ATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTA TATG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	312	0.0032	703	c.293 others(722): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTT GGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATAT ATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATA TATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(696): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATGTATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATAT AAATATATAAATATAAATATATAAATATATATATATAATTATATATATAT ATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTC TTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAAT ATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTA TATG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	312	0.0032	703	c.293 others(722): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATGTATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTT GGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATAT ATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATA TATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(696): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATATAAATATAAATATATAAATATATATATATAATTATATATATATAT TTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATATTTAGGTC TTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAAT ATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTA TATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0059 a0001c0002t0025g0059	1	312	0.0032	703	c.293 others(722): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAAAC CAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATATAAAT ATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCCTC TGGTTTTGGTTTTTTTTATATATATATATATATTTAGGTCTTCTGGTTTT GGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATAT ATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATA TATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCOR2_chr12_124319415_124572612	124468037	A A	ATCCTCAT others(696): Show ATCCTCATCACCCTCATCATCCTCATCCTCATCACCCCCATCATCCTCAT CCTCATCACCCTCATCATCCTCATCCTCATCACCCCATCATCCTCATCCT CATCACCCCCATCACCCTCATCCTCATCACCCCCATCATCCTCATCCTCA TCACCCCCATCATCCTCATCACCCCCATCATCCTCATCACCCCCATCACC CTCATCCTCATCACCCCCATCGTCCTCATCCTCATCACTGTCATCCTCAT CCCTCCCCTCATCTTCATCCTCATTACCCCCCTCATCTTCATCATCTTCA CCCCATCATCCTTATCTTCATCACCCCATCACCCTTATCATCCTCATGAC CTCCATCATCCTTATCACCCTCATCATCCTCATCACCCTCATCCTCATCA CCCCATCACCCTCATCTTCATCACCCCCATCACCCTCATCATCCTTATCC TCATCACCCCCATCATCCTCATCCTTATCACCCCCATCACCCTCATCCTC ATCACCCCTTCATCCTCATCCTCATCACCCCCATCACCCTCATCCTCATC ACCCTCTTCACCCTCATCCTCATCACCCTCATCCTCATCACCCCCCTCAT CCTCATCACCCCCCTCATCCTCATCACCCCCCTCATCCTCATCCTCATCA CCCCCATCATCCTCATCACCCTCATCCTCATCACGCCCATCACCCTCATC ATCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02280.hp1 others(5): Show HG01243.hp2 HG01884.hp1 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG03041.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0048	a0002c0001 a0002c0015 a0002c0108 others(4): Show a0002c0001 a0002c0015 a0002c0108 a0002c0115 a0003c0074 a0006c0004 a0048c0077	a0002c0001t0003 a0002c0001t0010 a0002c0015t0078 others(5): Show a0002c0001t0003 a0002c0001t0010 a0002c0015t0078 a0002c0108t0028 a0002c0115t0007 a0003c0074t0005 a0006c0004t0001 a0048c0077t0021	a0002c0001t0003g0173 a0002c0001t0010g0204 a0002c0015t0078g0231 others(5): Show a0002c0001t0003g0173 a0002c0001t0010g0204 a0002c0015t0078g0231 a0002c0108t0028g0162 a0002c0115t0007g0167 a0003c0074t0005g0127 a0006c0004t0001g0143 a0048c0077t0021g0101	8	234	0.0342	703	c.592 others(720): Show c.592-1752_592-1751insGGATGATGAGGGTGATGGGCGTGATGAG GATGAGGGTGATGAGGATGATGGGGGTGATGAGGATGAGGATGAGGGGGG TGATGAGGATGAGGGGGGTGATGAGGATGAGGGGGGTGATGAGGATGAGG GTGATGAGGATGAGGGTGAAGAGGGTGATGAGGATGAGGGTGATGGGGGT GATGAGGATGAGGATGAAGGGGTGATGAGGATGAGGGTGATGGGGGTGAT AAGGATGAGGATGATGGGGGTGATGAGGATAAGGATGATGAGGGTGATGG GGGTGATGAAGATGAGGGTGATGGGGTGATGAGGATGAGGGTGATGAGGA TGATGAGGGTGATAAGGATGATGGAGGTCATGAGGATGATAAGGGTGATG GGGTGATGAAGATAAGGATGATGGGGTGAAGATGATGAAGATGAGGGGGG TAATGAGGATGAAGATGAGGGGAGGGATGAGGATGACAGTGATGAGGATG AGGACGATGGGGGTGATGAGGATGAGGGTGATGGGGGTGATGAGGATGAT GGGGGTGATGAGGATGATGGGGGTGATGAGGATGAGGATGATGGGGGTGA TGAGGATGAGGGTGATGGGGGTGATGAGGATGAGGATGATGGGGTGATGA GGATGAGGATGATGAGGGTGATGAGGATGAGGATGATGGGGGTGATGAGG ATGAGGATGATGAGGGTGATGAGGA	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48			chr12	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(696): Show TATATTCCATACATATACATACATGGTATATATTCCATACATATACATAC ATGGTATATATTCCATACATATACATACATGGTATATATTCCATATATAC ATACATGGTATATATTCCTATATATACATACATGGTATATATTCCATATA TATACATACATGGTATATATTCCATATATATATACACATACATGGTATAT ATTCCATATATATATACACATACATGGTATATATTCCATATATACATACA TGGTATATATTCCTATATATACATACATGGTATATATTCCTATATATACA TACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATA TATATACATACATGGTATATATTCCATATATATACATACATGGAATATAT ATATTCCATACATGGAATATATATATTCCATATATACATATATATATTCC ATATATACACATATATATATTCCATATATACACATATACATGGAATATAT ATCTGTATATATATGGAATATATATATGTATATATATGAAATATATATGT ATATGTATTTATATTATGTATTTATATTATAAATATATATTATGTATATA TATTTATATTATAAATATATATTATGTATATATATTTATAATATAAATAT ATATTATGTATATATATTTATATTATAAATATATATTATGTATATATATT TATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	66	0.0152	703	c.474 others(722): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATACATATACATACATGGTATATATTCCATACATATACATACATG GTATATATTCCATATATACATACATGGTATATATTCCTATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ATACACATACATGGTATATATTCCATATATATATACACATACATGGTATA TATTCCATATATACATACATGGTATATATTCCTATATATACATACATGGT ATATATTCCTATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATATACATACATGGTATATATTCCATATAT ATACATACATGGAATATATATATTCCATACATGGAATATATATATTCCAT ATATACATATATATATTCCATATATACACATATATATATTCCATATATAC ACATATACATGGAATATATATCTGTATATATATGGAATATATATATGTAT ATATATGAAATATATATGTATATGTATTTATATTATGTATTTATATTATA AATATATATTATGTATATATATTTATATTATAAATATATATTATGTATAT ATATTTATAATATAAATATATATTATGTATATATATTTATATTATAAATA TATATTATGTATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(696): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGACCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCAAGTCCCTCCCCACAGAG CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCGAGTCCG TCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCC CCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAG AGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCC CCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTC CCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCGAGTCTGTCCCCACA GGCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCGAGTC CCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCA GGCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0122 a0001c0006t0002g0122	1	324	0.0031	703	c.140 others(720): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCT GTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGG ACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGA CTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGG GCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTC TGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTG AGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGCTCT GTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGG GGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAG GGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGTCTGTGGGGAGGGAC TGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(696): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCT CACCATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCT CACCATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCA CCACCACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATC ATCATCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCAC CAGCACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCAT CACCACCATCATCACCACCACCATCACCACCACCATCACCATCACCATCA CCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCA TCACCACCACCATCACCATCACCATCACCACCATCATCATCACCACCATC ACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAA CATCATCATCATCACCACCACCACCACCATCACCACCACCACCACCATCA ACACCACCATCACCACCACCATCATCATCACCACCACCACCATCACCACC ATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG06807.hp1 HG02257.hp1 HG02486.hp2 HG06807.hp1	a0001 a0003 a0032 a0001 a0003 a0032	a0001c0001 a0003c0008 a0032c0040 a0001c0001 a0003c0008 a0032c0040	a0001c0001t0003 a0003c0008t0003 a0032c0040t0003 a0001c0001t0003 a0003c0008t0003 a0032c0040t0003	a0001c0001t0003g0141 a0003c0008t0003g0178 a0032c0040t0003g0129 a0001c0001t0003g0141 a0003c0008t0003g0178 a0032c0040t0003g0129	3	322	0.0093	703	c.48 others(714): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGT GATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGA TGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGATGG TGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGG TGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTG GTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCT GGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGG TGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGA TGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTA TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTG GTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGAT GGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(696): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGAATTGGGAGGAAATATGCCAAAATG AGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGTT CTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTTT TTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGAT CTCG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	396	0.0025	703	c.907 others(720): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGAATTGGGAGGAA ATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTT ATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTT TTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAAT GTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(696): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGAT CTCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA19002.hp1 NA19086.hp2 HG01516.hp2 NA19002.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0168 a0001c0001t0003g0177 a0001c0001t0005g0048 a0001c0001t0003g0168 a0001c0001t0003g0177 a0001c0001t0005g0048	3	396	0.0076	703	c.907 others(720): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAAT GTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 8931 hits)