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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(698): Show GGGAGGGGGGAGGAGGGGGAGCAGGGAGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAG GAGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCTGG GGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGG AGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAG GGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGG GGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0006 a0000c0006t0006	a0000c0006t0006g0093 a0000c0006t0006g0093	1	168	0.0060	705	c.-26 others(714): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTC CTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCC CAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTC CTCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCT CCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCC CTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCTGC TCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CNTN6_chr3_1088024_1409217	1245281	A A	ATATATAT others(698): Show ATATATATAATATATATATAACATATATAATATATATATAACATATATAT ATAATATATATAACATATATATATAATATATATATAACATATATATATTA TATATATATAACATATATATATAATATATATATAACATATATAATATATA TATAACATATATATAATATATATATAACATATATATAATATATATATAAC ATATATAATATATATATAACATATATATAATATATATATAACATATATAT ATTATATATATAACATATATATATTATATATATAACATATATATATTATA TATAACATATATATATAATATATATATAACATATATATATTATATATATA ACATATATATTATATATATAACATATATATTATATATATAACATATATAT TATATATATAACATATATATTATATATATAACATATATATATAATATATA TATAACATATATATATAATATATATATAACATATATATATAATATATATA ACATATATATATATAATATATATATAACATATATATATAATATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATATAATATATATATAACATATATATATAATATATATATAACAT ATATATATAATATATATATAACATATATATATAATATATATATAACATAT ATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0123 a0001c0004t0001g0123	1	232	0.0043	705	c.358 others(724): Show c.358+17288_358+17289insTATATATAATATATATATAACATATA TAATATATATATAACATATATATATAATATATATAACATATATATATAAT ATATATATAACATATATATATTATATATATATAACATATATATATAATAT ATATATAACATATATAATATATATATAACATATATATAATATATATATAA CATATATATAATATATATATAACATATATAATATATATATAACATATATA TAATATATATATAACATATATATATTATATATATAACATATATATATTAT ATATATAACATATATATATTATATATAACATATATATATAATATATATAT AACATATATATATTATATATATAACATATATATTATATATATAACATATA TATTATATATATAACATATATATTATATATATAACATATATATTATATAT ATAACATATATATATAATATATATATAACATATATATATAATATATATAT AACATATATATATAATATATATAACATATATATATATAATATATATATAA CATATATATATAATATATATATAACATATATATATAATATATATATAACA TATATATATAATATATATATAACATATATATATAATATATATATAACATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATATAATATATATATAACATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(698): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGACGGCACGGCTGGCCGGGCGGGG GGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0261 a0001c0014t0001g0261	1	342	0.0029	705	c.844 others(722): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTG ACCCCCCCACCTCCCTCCTGGACGGCACGGCTGGCCGGGCGGGGGGGCTG ACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(698): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATAAATATATATATAAATATATATATAAATATATAT ATAAATATATATATATAAATATATATAAATATATAACTATATAAATAAAT ATATATAAATATATAAATATATAAAAATATATATAAATATATATGTAAAT ATATAAATATATATAAATATATATAAATATATATAAGTATATAAATATAT ATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATAT AAATATATATATAAATATATATAAGTATATAAATATATATAAATATATAT AAGTATATAAATATATATATAAATATATATAAGTATATATAAATATATAT AAATATATATAAGTATATATAAATATATAAAAATATATATAAGTATATAT AAATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp1 HG02486.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0057 a0001c0001t0015g0083 a0001c0001t0015g0057 a0001c0001t0015g0083	2	264	0.0076	705	c.181 others(724): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATATTTAT ATATATATTTATATATATATTTATATATATTTACATATATTTATATATTT ATATATATTTATATTTTTTATATATTTATATATATTTTTATATATATTTA TATATTTATAAATATATATATATTTATATATTTATAAATATATATATATT TATATATTTATAAATATATATATATTTATATATTTATAAATATATTTATA TTTATATATATTTACATATATATTTAGAATTACATATTTATATATATATT TATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CRTC3_chr15_90524923_90650345	90647358	A A	ACCCCTCC others(698): Show ACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCACC TCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACAT CCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCT CCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCC CTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCA CACCCCTCCTCCTCTACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCC TCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTCTTCCTCCTCCATA CCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACAT CCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTT CTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCT CCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCC TCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCT TGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCC TGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCA CCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0217 a0003c0003t0001g0217	1	276	0.0036	705	c.52 others(716): Show c.5218_*5219insCCCCTCCTCAACCTCCACACCACACCCCCTCCAC TACCCGCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCT CCTCCTCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACTTTTC CCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTCCT TCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACC CCTCCTCCTCCTCCACACCCCTCCTCCTCTACACCCCTCCTCCTCCTCCA CACCCCTCCTCTTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCC TCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTC ACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCC TCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTC CTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCT CCACACTCATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACA CCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTT CCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACAC CCCTCCCCCTCCTCACCCCGT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2014		chr15	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(698): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGGAGGGAGGGAGGAATGAAG GGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGG AGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGG GAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGG GGAAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAAGGGGAGGGGGAGGGG AAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGGGAGACAGAGGGGAG GGGGAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	216	0.0046	705	c.923 others(724): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCCT TCCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCC CTTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCT TCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCC TCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCC ATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCC CCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAT others(698): Show TCCACCATCACCACCATCTTCACCACCACCACCACCTCCACCACCAGCAC TTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCAT CACCATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCA CTATCACCACCACCTCCACCACCACCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCA CCATCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0004 a0001c0051t0004	a0001c0051t0004g0059 a0001c0051t0004g0059	1	256	0.0039	705	c.323 others(722): Show c.3234+744_3234+745insTCACCACCATCTTCACCACCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATCAC CACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA GCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCAC CTCCACTATCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCA TCACCACCACCTCCACTATCACCACCACCTCCACCACCACCACCACCACC TCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCAGCATCTTCACCATCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATA others(698): Show ATATAATATATAATTATATATAATATATATATTATATATAATTATATATT ATATATAATTATATATTATATATAATATATAATATATAATTATATATTAT ATATAATATATAATTATATATAATATATATTATATATAATTATATATTAT ATATATTATATAAATATATAATATATTATATATAATTATATATTATATAT TATATATAATATATAATTATATGTTATATATTATATATAATATATAATTA TATGTTATATATTATATATATTATATATTATATATATATTATATATATAA TATATATTATATATTAAATTATATATAATATATATTATATATATAATTTA TATATATAAAATATATTATATATTATATAAATATATATATTTTATATATA TAAAATATATATTTTATAATATATAATATAGAAATATATATTATATAATA TATAATTATATATAATTATATATTATATAATATATATTTCTATATTATAT ATTTATAATGTATAATATATAAATATATTATAAATATATATTATATACTA TATAATGCATTATAAATATATTATATTTATATATTATAAATATATTACAT ATTTATATATTATATATATAATATATATATTATATATTATAAATATATTT TATAAAATATAATATATATATTATTATATTTTATAAAATATAATAATAAT ATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	220	0.0046	705	c.551 others(724): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATAATATATATATTATATTTTATAAAATATATTTATAATATATA ATATATATATTATATATATAATATATAAATATGTAATATATTTATAATAT ATAAATATAATATATTTATAATGCATTATATAGTATATAATATATATTTA TAATATATTTATATATTATACATTATAAATATATAATATAGAAATATATA TTATATAATATATAATTATATATAATTATATATTATATAATATATATTTC TATATTATATATTATAAAATATATATTTTATATATATAAAATATATATAT TTATATAATATATAATATATTTTATATATATAAATTATATATATAATATA TATTATATATAATTTAATATATAATATATATTATATATATAATATATATA TAATATATAATATATATAATATATAACATATAATTATATATTATATATAA TATATAACATATAATTATATATTATATATAATATATAATATATAATTATA TATAATATATTATATATTTATATAATATATATAATATATAATTATATATA ATATATATTATATATAATTATATATTATATATAATATATAATTATATATT ATATATTATATATAATATATAATTATATATAATATATAATTATATATAAT ATATATATTATATATAATTATATATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EML1_chr14_99788413_99947060	99927975	G G	GTGGTGGA others(698): Show GTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGATAGTAGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0125 a0003c0002t0003g0125	1	288	0.0035	705	c.190 others(724): Show c.1909+7104_1909+7105insAGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGATAGTAGTGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGAGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTATTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(698): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0262 a0002c0003t0001g0262	1	346	0.0029	705	c.-76 others(722): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAAC GTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTG GCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(698): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01175.hp1 others(6): Show HG00741.hp2 HG01106.hp2 HG01175.hp1 HG02257.hp1 HG02630.hp2 HG03017.hp1 HG03834.hp1 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0208 others(6): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0258 a0001c0001t0002g0163	9	346	0.0260	705	c.-76 others(722): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAAC GTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTG GCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FLT3_chr13_27998274_28105576	27999038	T T	TATAAATA others(698): Show TATAAATATATATGTATATACATATAAATATATATGTATATACATATATA TATGTATATACATATATATATATGTATATACATATATATATGTATATACA TATATATATATGTATATACATATAAATATATATGTATATACATATAAATA TATATGTATATACATATAAATATATATGTATATACATATAAATATATATG TATATACATATAAATATATATGTATGTATATTATATACATATAAATATAT ATATTTATATACATATAAATATATATATTTATATACATATAAATATATAT ATTTATATACATATAAATATATATATTTATATACATATAAATATATATAT TTATATACATATAAATATATATTTATATACATATAAATATATATTTACAT ACATATAAATATATATTTACATACATATAAATATATACATTTATATACAT ATAAATATATACATATATACATATAAATATATATTTATATACATATAAAT ATATAAATATATATATATTTATATATATATAAATATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATATTTAT ATATATATACATATAAATATATATTTATATACATATAAATATATAATTAT ATACATATAAATATATAATTATATACATATAAATATATATAATTATATAC ATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	292	0.0034	705	c.50 others(716): Show c.5013_*5014insTTATATGTATATAATTATATATATTTATATGTAT ATAATTATATATTTATATGTATATAATTATATATTTATATGTATATAAAT ATATATTTATATGTATATATATATAAATATATATATATTTATATATATAT AAATATATATATATTTATATATATATAAATATATATATATTTATATATAT ATAAATATATATATATTTATATATTTATATGTATATAAATATATATTTAT ATGTATATATGTATATATTTATATGTATATAAATGTATATATTTATATGT ATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAA ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAATATACATA CATATATATTTATATGTATATACATATATATTTATATGTATATACATATA TATTTATATGTATATACATATATATTTATATGTATATACATATATATTTA TATGTATATACATATATATATATGTATATACATATATATATGTATATACA TATATATATATGTATATACATATATATATGTATATACATATATATTTATA TGTATATACATATATATTTAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4235		chr13	TogoVar
FMN2_chr1_240086883_240480187	240185174	T T	TTCCCCTT others(698): Show TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTACACCTTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTT TCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCC TATACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0010 a0010	a0010c0003 a0010c0003	a0010c0003t0001 a0010c0003t0001	a0010c0003t0001g0016 a0010c0003t0001g0016	1	174	0.0058	705	c.193 others(724): Show c.1931-3032_1931-3031insCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTACACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCT TTCCCCTTCTCTTTCTCCCTCCTATACCT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(698): Show TCCCCTTTCCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCC CCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCC CCTTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCTCTCCCTCCCTACCCTC TCTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTT CCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCC CTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCT CCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTC TCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTC CATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCCTCTCCTT CTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTC CCCCCTCCCTCTCTCCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCT CCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCC CTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTT TCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTCTGTCCCCCTCTCCCT GTCTCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0211 a0001c0001t0008g0211	1	230	0.0044	705	c.126 others(722): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAAAGGGCGGGGGAGAGAGGG AGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAG AGGGGGAGGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGGAGAGAG GGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGGAGAGGGG GAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGG GGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGA GGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAA AGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGG AGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGT GAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGG GAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGA GAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGG GGAGGGAGGGAGAGGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(698): Show TCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCAC CATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCA CCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACC TCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCAC CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCACCACCAC CACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCATCA CCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATC ACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTAC CCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCA CCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCC ACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCAC CATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCTCCTCCA CCATCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	274	0.0037	705	c.804 others(722): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGT GGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGG TGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTG ATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGG AGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATG GTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGG TGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGG GTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGA GATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGG TGTTGAAGGAGATGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322664	T T	TGGAATAT others(698): Show TGGAATATATACATATGGAATATATATATGGAATATATACGTATGGAATA TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATATGGAATATATACGTATGGAATATA TATATATGGAATATATACGTATGGAATATATATATATGGAATATATACGT ATGGAATATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATA TGGAATATATACGTATGGAATATATATATATGGAATATATACGTATGGAA TATATATATATGGAATATATACGTATGGAATATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAA TATATATATATGGAATATACGTATGGAATATATATATATGGAATATATAT GTATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0238 a0002c0002t0002g0239	2	323	0.0062	705	c.-23 others(716): Show c.-2392_-2391insGGAATATATACATATGGAATATATATATGGAATA TATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATAT ATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATATGGAATATA TACGTATGGAATATATATATATGGAATATATACGTATGGAATATATATAT ATGGAATATATACGTATGGAATATATATATATGGAATATATACGTATGGA ATATATATATGGAATATATACGTATGGAATATATATATGGAATATATACG TATGGAATATATATATGGAATATATACGTATGGAATATATATATATGGAA TATATACGTATGGAATATATATATATGGAATATATACGTATGGAATATAT ATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATGG AATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATAT ATATGGAATATATATGTATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2305		chr21	TogoVar
INS_chr11_2154779_2166209	2161763	C C	CACCCCTG others(698): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT ATCCCCACACCCCCTGTCCCCACACCCCCTGTCCCCGGGACCCCTGTCCC CACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTC CCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCAGGACCCCTGTCCCCAGACCCCTATCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTC CCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	376	0.0027	705	c.-61 others(714): Show c.-614_-613insCCTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGATAGGGGT CTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT GTGGGGACAGGGGTCCTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGGTGTGGGGACAGGGGTCCTGGGGACAGGG GTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGG GTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGGTGTG GGGACAGGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTCCCGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCC GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		555		chr11	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(698): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCC ACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTG AGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGG CCACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCC TGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGG GGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACC CCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTA GGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCC TGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGG GGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAAC CCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTA GGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGA CCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGG GGCCAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0111 a0002c0002t0007g0111	1	330	0.0030	705	c.430 others(720): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATC CCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGA TGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCT CTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCA GCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACC CTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCC CAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCA CCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGG TCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCC ACCCCTTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LGR6_chr1_202188799_202324761	202205097	T T	TCCACACA others(698): Show TCCACACACATACCTAACACAAACCTCCTTCAAACGCACACACCCCCTTC AAACACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACA CCTAGCACACACTCCTCCACACACACACACACCTAACACACACCTCCTTC AAACACACACACACCTCCAAACACACATACACCTCCAAACACACACACAC CTCCAAACACACATACACCTCCAAACACACACACCTAACACACACCTCCT TCAAACACACACACCTCCAAACACACACACACCTAACACACACACCCCTC CTTCAAACACACACACACCTCCAAACACACACACACCTAACACACACCTC CTCCAAACACACACACACCTCCAAACACACACACACCTAACACACACCTC CTCCAAACACACACACCTCCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACACCTAACACACACCTCCTTCAAACACACACACACCTC CAAAGACACACACACACCTATCACACCTTCAAACACACACACACACCTAA CACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAA CACACACACACCTATCACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACATCTAACACCTCCTTCAG ACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03579.hp2 HG02630.hp1 HG03579.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0003 a0004c0003t0003 a0002c0002t0003 a0004c0003t0003	a0002c0002t0003g0016 a0004c0003t0003g0017 a0002c0002t0003g0016 a0004c0003t0003g0017	2	262	0.0076	705	c.212 others(724): Show c.212+10896_212+10897insCCACACACATACCTAACACAAACCTC CTTCAAACGCACACACCCCCTTCAAACACACACACCTCCTTCAAACACAC ACACCTCCAAACACACACACACACCTAGCACACACTCCTCCACACACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACA TACACCTCCAAACACACACACACCTCCAAACACACATACACCTCCAAACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACACACACCCCTCCTTCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTCCAAACACACACACCTCCAAACACA CACACACCTCCAAACACACACACACCTAACACACACACCTAACACACACC TCCTTCAAACACACACACACCTCCAAAGACACACACACACCTATCACACC TTCAAACACACACACACACCTAACACACACCTCCTCCAAACACACACACA CCTCCAAACACACACACACCTAACACACACACACCTATCACACACCTCCT TCAAACACACACACCTAACACACCCGTCCTTCAAACACACACACACCACA CACACATCTAACACCTCCTTCAGACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17			chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(698): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACA CACACACACCACACACACACCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACAC ACACCTCCTTCAAACACACACACACACCTCCACACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAAC ACACAGCTTCTTCAAACACACACACACCTCCAAACATACACACACCTAAC ACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACACA CCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACCTC CTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACCTT CAAACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(13): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG01099.hp1 HG01192.hp2 HG03654.hp2 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp2 NA18980.hp1 NA18982.hp1 NA18998.hp1 NA19007.hp2 NA19085.hp2 NA19088.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0014c0022	a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 others(3): Show a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0004c0003t0003 a0014c0022t0003	a0001c0001t0004g0060 a0001c0001t0004g0067 a0001c0001t0004g0068 others(13): Show a0001c0001t0004g0060 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0004g0071 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0003g0015 a0002c0002t0003g0061 a0002c0002t0003g0065 a0002c0002t0003g0069 a0002c0002t0003g0084 a0002c0002t0003g0088 a0002c0002t0006g0086 a0004c0003t0003g0066 a0014c0022t0003g0059	16	262	0.0611	705	c.212 others(724): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACACCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAACA TACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACAC ACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACACAC CTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCT AACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(698): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACA CACACACACCACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACAC ACACCTCCTTCAAACACACACACACACCTCCACACACACACACACACCTA ACACACACCTCCTTCAAACACACACACACACCTCCACACACACACCTAAC ACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACACA CCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACCTC CTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACCTT CAAACA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0215 a0001c0012t0001g0215	1	262	0.0038	705	c.212 others(724): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACACA CACACACACACCTAACACACACCTCCTTCAAACACACACACACACCTCCA CACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACAC ACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACACAC CTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCT AACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(698): Show CCACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTTCA AACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACACAC CTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACA CACACACCACACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCCCTCCTTCAAACACACACACAC CTCCAAAGACACACACACACCTATCACACCTTCAAACACACACATCTAAC ACACACCTCCTTCAAACACACACACACACCTCCACACACACACACACACC TAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTA ACACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACA CACCTCCTTCAAACACACACCTCCACACACACACACCTAACACACACCTC CTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACCTT CAAACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02155.hp1 NA19068.hp2 HG00408.hp1 HG02155.hp1 NA19068.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0010 a0001c0001 a0002c0002 a0008c0010	a0001c0001t0001 a0002c0002t0002 a0008c0010t0001 a0001c0001t0001 a0002c0002t0002 a0008c0010t0001	a0001c0001t0001g0103 a0002c0002t0002g0139 a0008c0010t0001g0104 a0001c0001t0001g0103 a0002c0002t0002g0139 a0008c0010t0001g0104	3	262	0.0115	705	c.212 others(724): Show c.212+10958_212+10959insACCTAACACGCACCTCGTTCAAACGC ACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCTCC AAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACA CACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCC GTCCTTCAAACACACACACACCACACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCCCTCCTTC AAACACACACACACCTCCAAAGACACACACACACCTATCACACCTTCAAA CACACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACA CACACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAA CACACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCAC ACACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACAC CTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCT AACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(698): Show CCACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTTCA AACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACACAC CTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACA CACACACCACACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCCCTCCTTCAAACACACACACAC CTCCAAAGACACACACACACCTATCACACCTTCAAACACACACATCTAAC ACACACCTCCTTCAAACACACACACACACCTCCACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAAC ACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACACA CCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACCTC CTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACCTT CAAACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03688.hp2 HG00741.hp2 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0164 a0003c0004t0001g0165 a0001c0001t0001g0164 a0003c0004t0001g0165	2	262	0.0076	705	c.212 others(724): Show c.212+10958_212+10959insACCTAACACGCACCTCGTTCAAACGC ACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCTCC AAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACA CACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCC GTCCTTCAAACACACACACACCACACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCCCTCCTTC AAACACACACACACCTCCAAAGACACACACACACCTATCACACCTTCAAA CACACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACAC ACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACACAC CTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCT AACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(698): Show CCACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTTCA AACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACACAC CTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACA CACACACCACACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACAC ACACCTCCTTCAAACACACACACACACCTCCACACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAAC ACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACACA CCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACCTC CTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACCTT CAAACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp1 HG03225.hp2 others(1): Show HG01891.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0032 a0004c0003 a0007c0009 a0002c0032 a0004c0003 a0007c0009	a0002c0032t0002 a0004c0003t0003 a0007c0009t0004 a0002c0032t0002 a0004c0003t0003 a0007c0009t0004	a0002c0032t0002g0261 a0004c0003t0003g0053 a0007c0009t0004g0018 others(1): Show a0002c0032t0002g0261 a0004c0003t0003g0053 a0007c0009t0004g0018 a0007c0009t0004g0019	4	262	0.0153	705	c.212 others(724): Show c.212+10958_212+10959insACCTAACACGCACCTCGTTCAAACGC ACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCTCC AAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACA CACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCC GTCCTTCAAACACACACACACCACACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACAC ACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACACAC CTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCT AACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(698): Show CCACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTTCA AACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACACAC CTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACA CACACACCACACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCTTCAAACACACACACACACGTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACAC ACACCTCCTTCAAACACACACACACACCTCCACACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAAC ACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACACA CCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACCTC CTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACCTT CAAACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0166 a0010c0017t0002g0166	1	262	0.0038	705	c.212 others(724): Show c.212+10958_212+10959insACCTAACACGCACCTCGTTCAAACGC ACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCTCC AAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACA CACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCC GTCCTTCAAACACACACACACCACACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACA CACACACACACGTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACAC ACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACACAC CTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCT AACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471488	A A	ATATATAA others(698): Show ATATATAAATTTTTTTTATATTTATATATTTTTTATATATTTATATATAT TACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATA TATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTTTATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATACATATATATTTATATGTATTTAT ATATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TATTATTTATATATATATTTATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATTTATATATAT TATATATATTTATATATATTTATATATATATTTATATATGTATTTATATA TATATT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0155 a0001c0001t0001g0158	2	260	0.0077	705	c.125 others(722): Show c.125+9502_125+9503insATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTATATATATATTTATATGTATTTTTATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATACAT ATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATATTTATATATATATT TATATATATATTTATATATATATTATTTATATATATATTTATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATTTATATATATTATATATATTTATATATATTTATATATATA TTTATATATGTATTTATATATATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(698): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCT GCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGA GCTCAGCTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCCGG GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGT GTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTT TCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGCCC GCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00597.hp2 others(19): Show HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG01070.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02602.hp1 HG03942.hp2 NA18747.hp1 NA18982.hp2 NA18983.hp1 NA18987.hp2 NA18992.hp2 NA19057.hp1 NA19081.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0003 a0001c0001t0050 a0002c0002t0002 others(4): Show a0001c0001t0003 a0001c0001t0050 a0002c0002t0002 a0002c0002t0012 a0002c0002t0025 a0002c0002t0061 a0004c0005t0002	a0001c0001t0003g0002 a0001c0001t0050g0126 a0002c0002t0002g0003 others(11): Show a0001c0001t0003g0002 a0001c0001t0050g0126 a0002c0002t0002g0003 a0002c0002t0002g0033 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0069 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0012g0065 a0002c0002t0012g0071 a0002c0002t0025g0060 a0002c0002t0061g0070 a0004c0005t0002g0066	22	418	0.0526	705	c.23 others(716): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCCTG CGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTTTT TTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCG CGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGTCT GCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGG CTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTTTT TTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(698): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCATATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCT GCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGA GCTCAGCTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCCGG GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGT GTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTT TCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGCCC GCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18977.hp1 NA18975.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0012 a0002c0002t0002 a0002c0002t0012	a0002c0002t0002g0003 a0002c0002t0012g0020 a0002c0002t0002g0003 a0002c0002t0012g0020	2	418	0.0048	705	c.23 others(716): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCCTG CGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTTTT TTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCG CGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGTCT GCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATATGCCACCACGCCTG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGG CTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTTTT TTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(698): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCAGTGGC TCACACCTGTAATCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAAG GTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAG CTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTTG CAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAGC AAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGCA ATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGCT CAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCCGG GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGT GTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTT TCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGCCC GCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0137 a0001c0001t0024g0137	1	418	0.0024	705	c.23 others(716): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGATTACAGGTGTGAGCCACTGCGCCCTGCCCTTTTTTTTTTT TTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(698): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCAGTGGCT CACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAAG GTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAG CTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTTG CAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAGC AAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGCA ATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGCT CAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCCGG GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGT GTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTT TCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGCCC GCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(78): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02129.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02698.hp2 HG03491.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 NA18939.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19059.hp2 NA19063.hp1 NA19064.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0048 a0001c0001t0054 a0001c0001t0068 a0001c0001t0069 a0001c0001t0079 a0002c0002t0002 a0002c0002t0014 a0002c0002t0040 a0003c0003t0019 a0006c0007t0023	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0226 a0001c0001t0008g0015 a0001c0001t0008g0043 a0001c0001t0008g0102 a0001c0001t0008g0225 a0001c0001t0010g0013 a0001c0001t0013g0022 a0001c0001t0017g0038 a0001c0001t0024g0130 a0001c0001t0025g0230 a0001c0001t0030g0122 a0001c0001t0030g0128 a0001c0001t0033g0112 a0001c0001t0034g0138 a0001c0001t0048g0124 a0001c0001t0054g0120 a0001c0001t0068g0135 a0001c0001t0069g0136 a0001c0001t0079g0234 a0002c0002t0002g0068 a0002c0002t0014g0064 a0002c0002t0040g0056 a0003c0003t0019g0086 a0006c0007t0023g0114	81	418	0.1938	705	c.23 others(716): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(698): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGG GGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGA GGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGG GGGAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGG AGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGG AGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGA GGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAAGGGA GGGTGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	272	0.0037	705	c.250 others(720): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATC CTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCT TCCCCCCTTCCCCCCACCCCTTTCCCCCCTTCCCCCCGCCCCTTTTCCCC CCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCC CCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTT CCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(698): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCC CCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCC CTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCT CCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	140	0.0071	705	c.114 others(724): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCT CCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCC TCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(698): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCC CCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCC CTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCT CCTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	140	0.0071	705	c.114 others(724): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCC CCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCT CCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCC TCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(698): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATAT ATAAATATATAAATATAAATATATAAATATATATATATAATTATATATAT ATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGG TCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAA ATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGT TATATG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	312	0.0032	705	c.293 others(724): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATAT AAATATAAATATATAAATATATATATATAATTATATATATATATTTAGGT CCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTT TTGGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAAT ATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATA TATATATATTTAGGTCCTCTGGTTTTGGT	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(698): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATATAAATATATATAAATA TATATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATA TCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGG CCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTG TAAATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATA TATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATAT ATAAATATATAAATATAAATATATAAATATATATATATAATTATATATAT ATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGG TCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAA ATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGT TATATG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	312	0.0032	705	c.293 others(724): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAA TGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATA ACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATA TATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATA TATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATAT AAATATAAATATATAAATATATATATATAATTATATATATATATTTAGGT CCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTT TTGGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAAT ATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATA TATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTIF3_chr13_27430643_27455564	27430708	G G	GACAAAAA others(698): Show GACAAAAAAAAAAAAATAAAAAACAATAAAAAAAAAAAATAAAAAAAAAA AAAATAAATAAAAAAATAACAAAAAAAAAAAAGAAAAAAAAAAATAATAC AAAAGAGAAACAAAAAAAAAAGAACAAAAAAACAAACACAAAAAAATAAA ACAAAAAAATAAATAAATAAAAAAACATAAAAAAAGAAAAAAATACAAAA AACACATAAAATAAAAAAAAAAAAAAAAAAAAAAAAGACAAAAAATAAAA AAAAAAAAAAAAAAAAACAAAAAAAAAATAATACAAAAAAAAAACAAAAA AAGAACAAAAAAAAAAAAACAAAAAAAACAATAAAAAAAAAAAAAACTGA AAAATAAAGACAAAAATAAAAAAAAAAAAAATAAAAAAAAAAACATAAAA AAAAAACAAGAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAACAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAAATAAAAAAA AAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGAAATATAT TGCAAAAAAAAAAATAAAGAAATCTTTTTTTCATAAAGACCCATTAAAAA AAAAATAGAATTAAAAGAAAAAAAAAAAAAACAAAAAACAAAAAAAATAA AAAAAAAACAATGTTTAACTATAACTAAGAAAAAATAAAAAAGACATAAT AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	414	0.0024	705	c.49 others(716): Show c.4966_*4967insTTTTTTATTATGTCTTTTTTATTTTTTCTTAGTT ATAGTTAAACATTGTTTTTTTTTTATTTTTTTTGTTTTTTGTTTTTTTTT TTTTTCTTTTAATTCTATTTTTTTTTTAATGGGTCTTTATGAAAAAAAGA TTTCTTTATTTTTTTTTTTGCAATATATTTCTTTTTGTATTTTTTTTTTT TTTTTTTTTTTTTTTTGTTTTTTTTTTTTATTTTTTTCTTTTTTTTTCTT TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA TTTTTTTTTTTTCTTGTTTTTTTTTTATGTTTTTTTTTTTATTTTTTTTT TTTTTATTTTTGTCTTTATTTTTCAGTTTTTTTTTTTTTTATTGTTTTTT TTGTTTTTTTTTTTTTGTTCTTTTTTTGTTTTTTTTTTGTATTATTTTTT TTTTGTTTTTTTTTTTTTTTTTTTTTATTTTTTGTCTTTTTTTTTTTTTT TTTTTTTTTTATTTTATGTGTTTTTTGTATTTTTTTCTTTTTTTATGTTT TTTTATTTATTTATTTTTTTGTTTTATTTTTTTGTGTTTGTTTTTTTGTT CTTTTTTTTTTGTTTCTCTTTTGTATTATTTTTTTTTTTCTTTTTTTTTT TTGTTATTTTTTTATTTATTTTTTTTTTTTTTATTTTTTTTTTTTATTGT TTTTTATTTTTTTTTTTTTGT	MTIF3	ENSG00000122033.15	transcript	ENST00000381120.8	protein_coding		4934		chr13	TogoVar
MUC4_chr3_195741771_195816929	195776415	C C	CCATACCT others(698): Show CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CGCACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAG TCATACCTTCCACAGTCATACCTTCCGCACCCATACCTTCCACAGTCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCGCACCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0006 a0006	a0006c0131 a0006c0131	a0006c0131t0002 a0006c0131t0002	a0006c0131t0002g0015 a0006c0131t0002g0015	1	249	0.0040	705	c.129 others(726): Show c.12943+1887_12943+1888insACTGTGGAAGGTATGGGTGCGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTG TGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAAGGTAT GGGTGCGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTG TGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776466	C C	CTTCCGCA others(698): Show CTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCC ACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAGT CATACCTTCCGCACCCATACCTTCCACAGTCATACCTTCCGCACCCATAC CTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCC GCACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGT CATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATAC CTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCC GCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACC CATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATAC CTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCC ACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACC CATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATAC CTTCCGCACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCC GCACCCTTACCTTCCGCACCCATACCTTCCACACCCATACCTTCCGCACC CATACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0046 a0046	a0046c0164 a0046c0164	a0046c0164t0002 a0046c0164t0002	a0046c0164t0002g0046 a0046c0164t0002g0046	1	249	0.0040	705	c.129 others(726): Show c.12943+1836_12943+1837insTGTATGGGTGCGGAAGGTATGGGT GTGGAAGGTATGGGTGCGGAAGGTAAGGGTGCGGAAGGTATGGGTGTGGA AGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTA TGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGT GTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGA AGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTA TGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGT GCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGA AGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTA TGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGT GTGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGA AGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTA TGACTGTGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGACT GTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGCGGA AGGTATGGGTGCGGAAGGTATGGGTGCGGAA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(698): Show TATATTCCATATATATACATACATGGTATATATTCCATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATA TATATACATACATGGTATATATTCCATATATATATACACATACATGGTAT ATATTCCATATATACATACATGGTATATATTCCTATATATACATACATGG TATATATTCCAATATATACATACATGGTATATATTCCATATATATACATA CATGGTATATATTCCATATATATATACATACATGGTATATATTCCATATA TATACATACATGGAATATATATATTCCATACATGGAATATATATATTCCA TATATACATATATATATTCCATATATACACAGATATATATTCCATATATA CACATATACATGGAATATATATCTGTATATATATGGAATATATATATGTA TATATATGAAATATATATGTATATGTATTTATATTATGTATTTATATTAT AAATATATATTATGTATATATATTTATATTATAAATATATATTATGTATA TATATTTATAATATAAATATATATTATGTATATATATTTATAATATAAAT ATATATTATGTATATATATTTATATTATAAATATATATTATGTATATATA TTTATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03688.hp2 HG01109.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0052 a0001c0001t0010g0053 a0001c0001t0002g0052 a0001c0001t0010g0053	2	66	0.0303	705	c.474 others(724): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATATACATACATGGTATATATTCCATATAT ATATACACATACATGGTATATATTCCATATATACATACATGGTATATATT CCTATATATACATACATGGTATATATTCCAATATATACATACATGGTATA TATTCCATATATATACATACATGGTATATATTCCATATATATATACATAC ATGGTATATATTCCATATATATACATACATGGAATATATATATTCCATAC ATGGAATATATATATTCCATATATACATATATATATTCCATATATACACA GATATATATTCCATATATACACATATACATGGAATATATATCTGTATATA TATGGAATATATATATGTATATATATGAAATATATATGTATATGTATTTA TATTATGTATTTATATTATAAATATATATTATGTATATATATTTATATTA TAAATATATATTATGTATATATATTTATAATATAAATATATATTATGTAT ATATATTTATAATATAAATATATATTATGTATATATATTTATATTATAAA TATATATTATGTATATATATTTATAATAT	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(698): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGACCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCAAGTCCCTCCCCACAGAG CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTC CCTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCT CCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAC AGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGC CCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCAC TCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTC CCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCGAGTCTGTCCCCA CAGGCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCGAG TCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACAC CAGGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0119 a0001c0007t0006g0119	1	324	0.0031	705	c.140 others(722): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCT GTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGG ACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGA CTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGG GCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTC TGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAG GGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGAC TGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGCT CTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGT GGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(698): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGACCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCAAGTCCCTCCCCACAGAG CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTC CGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCT CCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAC AGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGC CCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCAC TCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTC CCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCGAGTCTGTCCCCA CAGGCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCGAG TCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACAC CAGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(88): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18966.hp1 NA18975.hp2 NA18980.hp1 NA19002.hp1 NA19002.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0013 a0015 a0023	a0001c0001 a0001c0002 a0001c0004 others(22): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0017 a0001c0019 a0001c0020 a0001c0029 a0001c0037 a0001c0059 a0001c0060 a0001c0062 a0001c0064 a0001c0069 a0005c0023 a0006c0066 a0013c0065 a0015c0034 a0023c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0004t0005 a0001c0004t0006 a0001c0005t0001 a0001c0005t0025 a0001c0006t0002 a0001c0006t0004 a0001c0007t0005 a0001c0007t0006 a0001c0008t0002 a0001c0008t0005 a0001c0009t0002 a0001c0012t0002 a0001c0014t0002 a0001c0017t0002 a0001c0019t0002 a0001c0020t0002 a0001c0029t0006 a0001c0037t0002 a0001c0059t0004 a0001c0060t0011 a0001c0062t0005 a0001c0064t0006 a0001c0069t0004 a0005c0023t0004 a0006c0066t0002 a0013c0065t0005 a0015c0034t0014 a0023c0047t0004	a0001c0001t0001g0220 a0001c0001t0001g0251 a0001c0001t0001g0252 others(87): Show a0001c0001t0001g0220 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0038 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0126 a0001c0001t0004g0047 a0001c0001t0004g0059 a0001c0001t0004g0064 a0001c0001t0004g0090 a0001c0001t0004g0114 a0001c0001t0004g0128 a0001c0001t0004g0142 a0001c0001t0004g0174 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0011g0115 a0001c0001t0013g0054 a0001c0002t0002g0082 a0001c0002t0004g0097 a0001c0002t0005g0050 a0001c0002t0005g0072 a0001c0002t0005g0076 a0001c0002t0005g0091 a0001c0002t0005g0092 a0001c0002t0005g0093 a0001c0002t0005g0096 a0001c0002t0005g0103 a0001c0002t0005g0105 a0001c0002t0005g0106 a0001c0002t0005g0131 a0001c0002t0005g0141 a0001c0002t0006g0002 a0001c0002t0006g0040 a0001c0002t0006g0041 a0001c0002t0006g0075 a0001c0002t0006g0088 a0001c0002t0006g0089 a0001c0002t0006g0107 a0001c0002t0006g0108 a0001c0004t0005g0135 a0001c0004t0006g0147 a0001c0005t0001g0291 a0001c0005t0025g0068 a0001c0006t0002g0074 a0001c0006t0002g0100 a0001c0006t0004g0056 a0001c0006t0004g0067 a0001c0006t0004g0077 a0001c0006t0004g0084 a0001c0006t0004g0102 a0001c0006t0004g0146 a0001c0007t0005g0062 a0001c0007t0005g0080 a0001c0007t0006g0104 a0001c0007t0006g0118 a0001c0008t0002g0121 a0001c0008t0005g0177 a0001c0009t0002g0042 a0001c0009t0002g0069 a0001c0009t0002g0144 a0001c0012t0002g0057 a0001c0012t0002g0081 a0001c0012t0002g0113 a0001c0012t0002g0130 a0001c0012t0002g0140 a0001c0014t0002g0083 a0001c0014t0002g0085 a0001c0014t0002g0095 a0001c0017t0002g0063 a0001c0017t0002g0065 a0001c0019t0002g0149 a0001c0019t0002g0150 a0001c0020t0002g0055 a0001c0020t0002g0098 a0001c0020t0002g0111 a0001c0029t0006g0070 a0001c0029t0006g0071 a0001c0037t0002g0109 a0001c0059t0004g0125 a0001c0060t0011g0120 a0001c0062t0005g0116 a0001c0064t0006g0123 a0001c0069t0004g0112 a0005c0023t0004g0066 a0006c0066t0002g0099 a0013c0065t0005g0110 a0015c0034t0014g0087 a0023c0047t0004g0086	91	324	0.2809	705	c.140 others(722): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCT GTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGG ACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGA CTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGG GCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTC TGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAG GGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGAC TGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGCT CTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGT GGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(698): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGACCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCTGTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCAAGTCCCTCCCCACAGAG CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTC CGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCT CCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAC AGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGC CCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCAC TCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTC CCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCGAGTCTGTCCCCA CAGGCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCGAG TCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACAC CAGGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01993.hp1 HG00280.hp2 HG01175.hp1 HG01993.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0048 a0001c0009t0002g0101 a0001c0009t0002g0129 a0001c0009t0002g0048 a0001c0009t0002g0101 a0001c0009t0002g0129	3	324	0.0093	705	c.140 others(722): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCT GTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGG ACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGA CTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGG GCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTC TGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAG GGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGAC TGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGCT CTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGT GGGGACAGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(698): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATAAAGTATATATATAT ATATATATAATATATATTATATATATAAAGTATATATATAATATATATAA TATATATTATATATATAAAGTATATATATTATATATATAATATATATTAT ATATATAAAGTATATATATAATATATATAATATATATTATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATTATATATAAAGTAT ATATATAATATATATTATATATATATAAAATATATAATATATATTATATA TATAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0262	1	308	0.0033	705	c.730 others(722): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATAA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATATATATATATACTTTATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NXN_chr17_794310_984776	952163	A A	AGGTCACA others(698): Show AGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGACAGAC CAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGC TGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGTGGGGGGGCTGGAGTCAGACCAAGGTTGGAACCCGGCAGGTACCA CGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGACAGACCAA GGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGG GTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACT GTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	242	0.0041	705	c.360 others(724): Show c.360+27155_360+27156insGTCCGTGGTACCTGCCGGGTTCCAAC CTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGC CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCG GGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCCACAGTGTGACC GTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCC CCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTC TCTGACCCCAGCCCCCCCACAGTGTGACC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811306	T T	TTCCCTTC others(698): Show TTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCT TCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTC CTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCC TTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCC CTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCC CTTCCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	178	0.0056	705	c.773 others(720): Show c.773+661_773+662insCTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCC CTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTT CCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCT TCCTTCCTTCCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811344	C C	CCCTTCCC others(698): Show CCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTT CCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCTT CCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTC CCTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCC CTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCC TTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00099.hp2 HG00639.hp1 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0043 a0001c0001t0058 a0001c0001t0025 a0001c0001t0043 a0001c0001t0058	a0001c0001t0025g0121 a0001c0001t0043g0117 a0001c0001t0058g0099 a0001c0001t0025g0121 a0001c0001t0043g0117 a0001c0001t0058g0099	3	178	0.0169	705	c.773 others(720): Show c.773+697_773+698insCTCCCTTCCTTCCTCCCTTCCTTCCCTTCC TTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTT CCTTCCTTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCT TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTT CCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCT TCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTT CCCTCCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC CTTCCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTC CTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTCCCT TCCCTTCCTTCCCTTCCTTCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(698): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0130 a0001c0017t0002g0130	1	262	0.0038	705	c.129 others(722): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(698): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCAGCACCACCACCATCA ACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTCATC ACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATCATC ACCATCACCATCACCATCACCACCATCTCACCATCACCATCACCACCATC ATCACCACCACCATCTCACCATCACCATCACCACCATCATCACCACCACC ATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCACCAT CACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCACCA TCACCACCACCATCACCACCACCACCACCACCATCATCACCATCACCACC AGCACCACCACCAACATCATCATCATCACCACCACCACCACCATCACCAC CACCACCACCATCAACACCACCATCATCATCACCACCACCACCATCACCA CCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03195.hp2 HG02109.hp2 HG03195.hp2	a0005 a0029 a0005 a0029	a0005c0042 a0029c0062 a0005c0042 a0029c0062	a0005c0042t0025 a0029c0062t0023 a0005c0042t0025 a0029c0062t0023	a0005c0042t0025g0263 a0029c0062t0023g0215 a0005c0042t0025g0263 a0029c0062t0023g0215	2	322	0.0062	705	c.48 others(716): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGA TGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTGAT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGG TGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTG ATGGTGAGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGG TGGTGATGGTGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGG TGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTG ATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGT GGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGG TGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGG TGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGG TGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATG ATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TAATTATA others(698): Show TAATTATATATAATTATATACAATTATATAATTATATATAATTGTATATA ATTATTTATTATATAATTATATATTTTATTATATATTATATAATTATATA ATTATATATTATTTATTATATAATATATAATTATATATTATATATTATAT AATTATATATTATTTATTATATAATATATAATTATATATTATTTATTATA TAATTATATATTATTTATTATATATATTATTTATTATATAATTATATATT ATGTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA TTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATTA TATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATAAGTATATATTATTTATTACA TAAGTATATATTATTTATTACATAAGTATATATCACTTATTATATAATTG CATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTG TATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATATAATTC TATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	106	0.0094	705	c.862 others(722): Show c.862+3416_862+3417insATTATATATAATTATATACAATTATATA ATTATATATAATTGTATATAATTATTTATTATATAATTATATATTTTATT ATATATTATATAATTATATAATTATATATTATTTATTATATAATATATAA TTATATATTATATATTATATAATTATATATTATTTATTATATAATATATA ATTATATATTATTTATTATATAATTATATATTATTTATTATATATATTAT TTATTATATAATTATATATTATGTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATATTATGTATTATATAATTATATAATTATATA TTATGTATTATATAATTATATATTATTTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATTA TATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTAT TATATAATTATATATTATTTATTATATAATTATATATTATTTATTATATA AGTATATATTATTTATTACATAAGTATATATTATTTATTACATAAGTATA TATCACTTATTATATAATTGCATATAATTATTTATTATATAATTGCATAT AATTATTTATTATATAATTGTATATAGTTATTTATTATATAATTGTATAT AGTTATTTATTATATAATTCTATATAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(698): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCACACACTCCCACCCCCTCCCCGCA CACCCCCATCCCCTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCC ACCCCCTCCCCGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTC CCCTGCACACCCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCTGCA CACCCCCACCCCCTCCCCGCACACCCCCATCTCCTCCCCTGCACACCCCA CAACCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0003 a0004c0041t0003	a0004c0041t0003g0077 a0004c0041t0003g0077	1	210	0.0048	705	c.147 others(722): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACACTCCCACCCCCT CCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACCCCCTCCCCTGCA CACCCCCACCCCCTCCCCGCACACCCCCATCTCCTCCCCTGCACACCCCA CAACCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCACCCCCTC CCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATCTCCTCCCCTGCA CACCCCACAACCTCCCCTGCACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 8931 hits)