Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAGA others(791): Show TAAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0137 a0002c0003t0001g0137	1	308	0.0033	798	c.127 others(817): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KCNG2_chr18_79792938_79905100	79887065	G G	GACATGGG others(791): Show GACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGG GGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGG GACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGA ACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGG GATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGG AGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGG GACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGG GACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGG ACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGG GACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGG ACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAA CATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGG ATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGG ACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGG ACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG02886.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0217 a0001c0005t0001g0231 a0001c0005t0001g0217 a0001c0005t0001g0231	2	312	0.0064	798	c.625 others(817): Show c.625-11953_625-11952insGATGGGGATGGGAACATAGGGACGTG GGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAG GGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGG AACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGG GGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGG GAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACG GGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGG GGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGG GACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGG GGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGG GACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGA ACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGG GATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGG AGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGG GACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGG GACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGA ACATGGGGACACGGGACAGGGA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCTD8_chr4_44168903_44453809	44179714	T T	TAGGGATC others(791): Show TAGGGATCACTAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTCCTTTCTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTAC ATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGG TGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATG CTATCCCTCCCCCCTCCCCCCGACCCCACCACAGTCCCCAGAGTGTGATA TTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAG TGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAA TGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCA TTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT AATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTA TTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAG CATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTC AAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCC ACAATGGTTGAACTAGTTGACAGTCCCACCAACAGTGTAAAAGTGTTCCT ATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGAT TGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	294	0.0034	798	c.962 others(815): Show c.962-4465_962-4464insGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTCAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATAATCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGACTATTAGTGATCCCT	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(791): Show GCATCAGGGCCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGA GGGGATGGGAGCCAGCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCC TGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTG AGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATC AGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAG GGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCAT CAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGA GGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACC ATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGA GAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCA CCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGA GAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCC TGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGT GAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGCCA CCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCCTGA GGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19054.hp2 NA18969.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0002t0001g0099 a0002c0002t0001g0105	2	330	0.0061	798	c.430 others(813): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATC CCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGA TGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCT CTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCA GCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACC CTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTC CTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCAC CCCTTTACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTG GTGGTGGCCCCCACCCCCTCACTCAGGGGTCCTGATGGCGGCCCCCACCC CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCCACCCCCT CACTCAGGGGCCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(791): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCTTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	798	c.-27 others(809): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LHPP_chr10_124456823_124619141	124471437	T T	TTATGTAT others(791): Show TTATGTATATATTTATATATATTTATATATATTTTATATATATTTATATA TATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATTA CATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATA TTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTAT ATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTTAT ATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTAT ATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTTAT ACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTA TTTATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATT TATATATATTTATATATATATTTATATATATATTTATATATATATTATTT ATATATATATTTATATATATTTATATATATTTATATATATTTATATATAT TTATATATATATTTATATATATATTTATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	260	0.0039	798	c.125 others(815): Show c.125+9453_125+9454insGTATATATTTATATATATTTATATATAT TTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTTTTT ATATATTTATATATATTACATATATTTTTATATTTTATATATATTTATAT ATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATATAT TTATATATATTTATGTATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATTTATAT ATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTATAT ATATTTATATGTATTTATATATATATTTATATGTATTTATATATATTTAT ATATTTATATGTATTTATACATATATATTTATATGTATTTATATATATTT ATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATATTATTTATATATATATTTATATATATTTATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATATTTATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610869	A A	AGGGTGCT others(791): Show AGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGAGGGTG CTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCG GGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATG GAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGG AGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGG GTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGTTG ACGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGCGGGT GAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGG TGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTG CGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	260	0.0039	798	c.717 others(815): Show c.717-2390_717-2389insCTGGTGGAGCGGGTGAGGGTGAGGGTGA GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGCG GGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGA GGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCA GGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGG AGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGG GTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCT GATGGAGCGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGG TGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGG GTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGT GAGGGTGCGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGA TGGAGCGGGTGCGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAG CGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGA GGGTGTTGACGGAGCGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	953666	C C	CTCCTGCA others(791): Show CTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTT CACACAGACACGGACCCCAAACCAGCCTCCTGCACGTCCACACAGACACC CACCCCAAACCAGCCTCCTGCACGTCCACACAGACACGGACCCCAAACCA GCCTCCTGCACATCCACACAGACACCCACCCCAAACCAGCCTCCTGCACG TCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACA CGGACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAAC CAGCCTCCTGCACGTCCACACAGACACACACCCCAAACCAGCCTCCTGCA CATCCACACAGACACAGACCCGAAACCAGCTTCCTACATGTCCACACAGA CACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCCAC ACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTG CACATCCACACAGACACAGACCCGAAACCAGCCTCCTGCACATCCACACA GACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCC ACACCAGCTTCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCC TACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTGCACATCCACA CAGACACAGACCCGAAACCAGCCTCCTGCACATCCACACAGACACAGACC CGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00642.hp2 HG00733.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0028 a0001c0001 a0007c0028	a0001c0001t0001 a0007c0028t0004 a0001c0001t0001 a0007c0028t0004	a0001c0001t0001g0164 a0007c0028t0004g0265 a0001c0001t0001g0164 a0007c0028t0004g0265	2	294	0.0068	798	c.503 others(813): Show c.503+690_503+691insAGCTGGTGTGGGGTGGGTGTCTGTGTGGAC GTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCT GGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTCC GTGTCTGTGTGAACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGG ACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAG CTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTCGGGT CTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGT GAACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGA AGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTTTCGG GTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGTGTGTCTGT GTGGACGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAG GAGGCTGGTTTGGGGTCCGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTG GGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGGTGGGTGTCT GTGTGGATGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGGACGTGC AGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTGGTT TGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGGTGT CTGTGTGGACGTGCAGGA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953697	A A	AACCAGCT others(791): Show AACCAGCTTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCT ACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCC CACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTC CTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCAC CCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCC TCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCC ACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCC ACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAG CCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGT CCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACC AGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACAC GTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGAC ACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	294	0.0034	798	c.503 others(813): Show c.503+659_503+660insGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTA GGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGT GGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTC TGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTG TAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTG AACGTGTAGGAAGCTGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061789	A A	AATTATAT others(791): Show AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAAATTATATATAATATAGAATATAATTATA TAATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTA TATTCTATAGAATATAATTATATAATATATAATTATATTCTATAGAATAT AATTATATAATATATAATTATATTCTATAGAATATAATTATATAATATAT AATTATATTCTATATTATATAATTATAATATAATTATATAATATAATTAT ATTATATATAATTATATTAAATATATTATATAATATAATTATATTATATA TTATATAATATATAATTATAATTATATATTATATAATATATAATTATATT ATATATTATATAATATATAATTATATTATATAATATATAATATATAATAT AATTATATATTATATAATATATAATTATATTATATATTATAATACATTTA ATATAATTATATTATAGATTATAATCTATAATATAATTATATTAATAGTA TTATAATATATAATATATTATATATAATTATATTATAACATATTATATAT AATTATATTATAGATCATAATCTATAATATAATTATATATAATATGTTAT AATATATAATTATATTCTATATATAATTATATATAATATAATTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	798	c.-31 others(809): Show c.-3185_-3184insGAATATAATTATATTATATATAATTATATATAGA ATATAATTATATATTATAACATATTATATATAATTATATTATAGATTATG ATCTATAATATAATTATATATAATATGTTATAATATAATTATATATAATA TATTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCT ATAATATAATTATATTAAATGTATTATAATATATAATATAATTATATATT ATATAATATATAATTATATTATATATTATATATTATATAATATAATTATA TATTATATAATATATAATATAATTATATATTATATAATATATAATTATAA TTATATATTATATAATATATAATATAATTATATTATATAATATATTTAAT ATAATTATATATAATATAATTATATTATATAATTATATTATAATTATATA ATATAGAATATAATTATATATTATATAATTATATTCTATAGAATATAATT ATATATTATATAATTATATTCTATAGAATATAATTATATATTATATAATT ATATTCTATAGAATATAATTATATATTATATAATTATATTCTATATAGAA TATAATTATATATTATATAATTATATTCTATATTATATATAATTTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3114		chr19	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(791): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCTC CCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC CTCCACCCTCCCCTCCCCTCCCTTCCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCTCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCGCCTTCCCCTCCCCTCCCCTCCACC CTCCCCCTCCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT TCCCCCTCCCCCCCTCCCCCTTCCCCTCCCCTCCCCCCTTCCCCTCCCCT CCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTC CCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCC CTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCC CTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTC CCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCCTCCCTCCCCCCTCCT CCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCCTCTCCTCTCCC CTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCTCCCCTCCCTTCCCT CTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0187 a0001c0011t0002g0187	1	278	0.0036	798	c.115 others(815): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCC CTCCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCCTCCACCCTCCCCTCCCCTCCCTTCCCCCTCCCCCTTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCTCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCGCCTTCCCCTCCCCTCCCCTCC ACCCTCCCCCTCCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTTCCCCCTCCCCCCCTCCCCCTTCCCCTCCCCTCCCCCCTTCCCCTCC CCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCC CTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTT CCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCT CCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCC CTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCCTCCCTCCCCCCT CCTCCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCCTCTCCTCT CCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCTCCCCTCCCTTC CCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCC ACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(791): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGG GGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGA GAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAG GGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGG GAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGG GAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAG GGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	272	0.0037	798	c.250 others(813): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCT TCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTC CCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTC CCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTC CCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCC TCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTC CTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPG_chr16_73225_90846	81997	T T	TCTCCGGG others(791): Show TCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC ACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGCCCTCCTGAATACTCCCCACGCTGGCCCCTTCTTCCCACCACCCTAC CTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGC CCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCA CGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATG CTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTC CTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGA AGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	442	0.0023	798	c.301 others(813): Show c.301-988_301-987insCCCTCCTGAATACTCCCCACGCTGGCCCCT TCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCC CCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGA ATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCC CTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCG GGAAGCCCTCCTGAATACTCCCCACGCTGGCCCCTTCTTCCCACCACCCT ACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTG GCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCC TCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA CCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(791): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTC CTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGA AGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTATC TCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	442	0.0045	798	c.301 others(813): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACC CCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCAC CCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTC CCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCG CTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCT CCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCT GAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG GCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPPED1_chr22_43407014_43512848	43500011	T T	TGGTGGTG others(791): Show TGGTGGTGGTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGT GGTGATGGTGGAGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATG GCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGGTGATGGAGGTGGTAAT GGAGGTGGTGGGGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGA TGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTG GTGATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGGGGTGGT GGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGG TGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGAT GGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGG TGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGT GGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGG TGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0210 a0001c0001t0015g0210	1	250	0.0040	798	c.748 others(815): Show c.748+1666_748+1667insTGGTGAGGGAGGTGGTGATGGGGGTGGT GGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGG TGATGGAGGTGGTGGTGGTGATGGTGGAGGTGATGGAGGTGGTGGTGGTG GTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGATGGAGGTGGTG GTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGT GATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAGGGAGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATG GTGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTG GTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTG ATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(791): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATAA GATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATTT TATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAAT AAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATAT TTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAA ATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATAT ATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTT TATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATA TATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATA TATAAAATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0317 a0001c0001t0043g0317	1	330	0.0030	798	c.-5+ others(813): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAAT CTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAA AATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCT TATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATAT AAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAAT CTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAA ATAAGATTTTATATATATATAAAATATATATAAAATATATATAAAGTAAG ATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATATAAA ATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATAT ATATATAAAATATATAAAAAATATATATCAAATATATATAAAATAAGATT TTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(791): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATTT TATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAAT AAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATAT TTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAA ATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATAT ATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTT TATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATA TATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATA TATAAAATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG03579.hp2 others(1): Show HG02559.hp1 HG03195.hp2 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0314 a0001c0001t0004g0316 a0001c0001t0005g0315 others(1): Show a0001c0001t0001g0314 a0001c0001t0004g0316 a0001c0001t0005g0315 a0001c0001t0007g0313	4	330	0.0121	798	c.-5+ others(813): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAAT CTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAA AATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCT TATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATAT AAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAAT CTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAA ATAAGATTTTATATATATATAAAATATATATAAAATATATATAAAGTAAG ATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATATAAA ATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATAT ATATATAAAATATATAAAAAATATATATCAAATATATATAAAATAAGATT TTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYT1L_chr2_1784113_2336275	2295611	G G	GACAGACA others(791): Show GACAGACAGAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGAGACAGA CAGACAGAGAGAGAGAGATAGAGAGACAGACAGAGAGAGACAGACAGAGA GAGAGAGATAGAGAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACAGA CAGAGAGAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGAGAGAGA GAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGA GAGAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGAGAGAGAGAGA TAGAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGA GACAGACAGAGAGAGAGAGATAGAGAGACAGACAGAGAGAGAGAGATAGA GAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGA GAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGATAGAGAGA CAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGA GACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGATAGAGAGACAGA CAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGAGACA GACAGACAGAGAGAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGA GAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACA GACAGAGAGAGAGAGAGACAGACAGAGAGAGAGAGAGAGAGAGACAGAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	104	0.0096	798	c.-52 others(819): Show c.-520-11109_-520-11108insGTCTGTCTCTCTCTCTCTCTCTCT CTGTCTGTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGT CTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTATCTCTCTCT CTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGT CTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTATCTCTCTCTCTCT GTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGT CTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCT GTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCT CTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCT CTCTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCT CTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTCT ATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCT CTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTATCT CTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCT CTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGT CTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCT GTCTGTCTGTCTCTCTCTGTCTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(791): Show CTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGT CCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGC TCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCC ACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCC CTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGC GCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	439	0.0023	798	c.28 others(809): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACC CGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTC AGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCT CAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCC TCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCG CACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTC CACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTC CCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAG CGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCT TCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCC TCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCC AGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(791): Show CTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGT CCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGC TCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCC ACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCC CTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGC GCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	439	0.0023	798	c.28 others(809): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACC CGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTC AGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCT CAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCC TCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCG CACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTC CACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTC CCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAG CGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCT TCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCC TCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCC AGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(791): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGA GGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGG AGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAG GAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGG GGGGAGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGAGG GGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGA GAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAA GGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTG CGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGT GGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0181 a0001c0004t0001g0181	1	208	0.0048	798	c.279 others(813): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCCTCCCCCCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCC CTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCT CCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCC TTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCT CCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
ODF3L2_chr19_458361_479983	479593	C C	CGGGGTTT others(791): Show CGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGA TCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCATGTT GGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCT CCCAAAGTGCTGGGATGACAGGCGTGAGCCACCGTGCCCGGCTAATTTTG TATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGA TCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACG GGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTTGTGAT CCGCCTTCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACCG TGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCATGTTG GCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTC CCAAAGTGCTGGGATGACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGT ATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAT CTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0115 a0007c0011t0001g0115	1	324	0.0031	798	c.-48 others(809): Show c.-4847_-4846insCGTCTCTACTAAAAATACAAAATTAGCCGGGCAC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGA TCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCC GTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTC ATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGAT CGAGACCAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATAC AAAATTAGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGA GGCCGAGGAAGGCGGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCA ACATGGAGAAACCCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGAT CACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCCG TCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTCA TCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATC GAGACCAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATACA AAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAA CATGGAGAAACCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4611		chr19	TogoVar
ODF3L2_chr19_458361_479983	479783	G G	GCCTCGGC others(791): Show GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCG GCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGG CTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAG TGCTGGGATGACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTT AGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTG ACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTT CTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGG CTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGC TGGTCTCGATCTCCTGACCTCGTGATCCGCCTTCCTCGGCCTCCCAAAGT GCTGGGATGACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTA GTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGA CCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGT GAGCCACCGCGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTC TCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03139.hp1 HG03139.hp2 others(1): Show HG01243.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1	a0002 a0006 a0002 a0006	a0002c0007 a0006c0010 a0002c0007 a0006c0010	a0002c0007t0002 a0006c0010t0004 a0002c0007t0002 a0006c0010t0004	a0002c0007t0002g0027 a0006c0010t0004g0056 a0006c0010t0004g0058 a0002c0007t0002g0027 a0006c0010t0004g0056 a0006c0010t0004g0058	4	324	0.0124	798	c.-50 others(809): Show c.-5037_-5036insAAGGCGGATCACGAGGTCAGGAGATCGAGACCAG CCTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATACAAAATTAGC CGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGC AGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGA AACCCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCAC GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTC AGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTA AAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGC CTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATACAAAATTAGCC GGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA GGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAA ACCCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACG CCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCA GGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTAA AAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGG	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4801		chr19	TogoVar
PCSK5_chr9_75885673_76367975	76305717	T T	TGTATCCA others(791): Show TGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTA GTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAG ACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCT ATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCT ATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATT CTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACA CGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATT TTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACT GTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAG TCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGA CAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCTA TGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTA TAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTC TGAGAGTTTAATTACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACAC GTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTT TCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0002 a0008c0003t0002	a0008c0003t0002g0102 a0008c0003t0002g0102	1	166	0.0060	798	c.360 others(817): Show c.3605-2705_3605-1908dupCATTTTAGAGACAAGGAAAGTAGGAT TCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGAC ACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTAT TTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTAC TGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTA GTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAG ACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCT ATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCT ATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATT CTGAGAGTTTAATTACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACA CGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATT TTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACC GTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAG TCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGA CAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTA TGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTA TAAGGGCAGAATTATTTTCTCT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIEZO1_chr16_88710338_88790220	88712912	C C	CCCCGAGA others(791): Show CCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGACCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02965.hp1 NA18522.hp2 HG01167.hp1 HG02965.hp1 NA18522.hp2	a0014 a0014	a0014c0010 a0014c0010	a0014c0010t0007 a0014c0010t0007	a0014c0010t0007g0027 a0014c0010t0007g0028 a0014c0010t0007g0029 a0014c0010t0007g0027 a0014c0010t0007g0028 a0014c0010t0007g0029	3	282	0.0106	798	c.26 others(809): Show c.2692_*2693insTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGC TCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGG GGTATGAGTGGGGGTCAGGGTCCGGGGAAGGGGGGCTCTCGGGTATGAGT GGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCAGG GCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG CTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGG GGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGT GGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGG GGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGC CCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGA AGGGGGCTCTCGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2425		chr16	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(791): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	252	0.0040	798	c.139 others(817): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGGGCAGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGT GGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(791): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGAT GGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGA TGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTG ATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGGTGATGATGGTGATGGTGGTGATGATGGTGATGGTGATGGTGATG ATGGTGACGGTGGTGACAATGGTGATGGTGATGGTGGTGATGTGATAATG GTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGGTGGTGGT GATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGG TAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTG ATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGT GATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGAT GGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGA TAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0006 a0003c0005t0001g0006	1	374	0.0027	798	c.-46 others(809): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGA TGATGGTGATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTG GTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGGTG ATGGTGATGGTGATGATGGTGACGGTGGTGACAATGGTGATGGTGATGGT GGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGT AATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGA TGGTGGTGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATG ATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGA TGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGAT GGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(791): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATAATATGTAATACACA ATATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACATTATACA TTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATG TAATATATATTATACATTATTATATAAGTATATGTAATATATATTATACA TTATTATATAAGCATATAATATATAATACATAATACATTATATATAAGCA TATAACAATACATAATACATTATATATAAGCATATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG01243.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0066 a0001c0001t0058 a0001c0001t0066	a0001c0001t0058g0210 a0001c0001t0066g0219 a0001c0001t0058g0210 a0001c0001t0066g0219	2	220	0.0091	798	c.24+ others(815): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATAATATGTAATACACAATATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTAT ACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGT ATATGTAATATATATTATACATTATTATATAAGCATATAATATATAATAC ATAATACATTATATATAAGCATATAACAATACATAATACATTATATATAA GCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(791): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01123.hp2 HG02129.hp2 others(6): Show HG00558.hp2 HG01123.hp2 HG02129.hp2 HG02165.hp1 HG02970.hp2 NA19005.hp1 NA19063.hp1 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0038 a0001c0001t0001g0174 a0001c0001t0003g0168 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0174 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0004g0058	9	304	0.0296	798	c.66+ others(813): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388469	T T	TTATAGCT others(791): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18993.hp2 NA19057.hp1 NA18939.hp2 NA18993.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0001g0291 a0001c0001t0003g0292 a0001c0001t0003g0293	3	304	0.0099	798	c.66+ others(813): Show c.66+3432_66+3433insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388469	T T	TTATAGCT others(791): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01496.hp1 HG01934.hp2 others(1): Show HG01258.hp1 HG01496.hp1 HG01934.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0012g0179	4	304	0.0132	798	c.66+ others(813): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(791): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp2 HG03139.hp2 HG01243.hp2 HG02809.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0003g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0003g0224	3	304	0.0099	798	c.66+ others(813): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(791): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01515.hp1 HG01517.hp1 others(5): Show HG00673.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 NA18947.hp1 NA18948.hp2 NA19007.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 others(5): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0002c0002t0001g0231	8	304	0.0263	798	c.66+ others(813): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(791): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01256.hp2 others(2): Show HG00099.hp2 HG00280.hp2 HG01256.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0244 a0001c0001t0003g0240 a0001c0001t0003g0241 others(2): Show a0001c0001t0001g0244 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243	5	304	0.0165	798	c.66+ others(813): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388500	T T	TTATAGCT others(791): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02257.hp1 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0183 a0002c0002t0001g0184 a0001c0001t0001g0183 a0002c0002t0001g0184	2	304	0.0066	798	c.66+ others(813): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	288807	G G	GCACCCTC others(791): Show GCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCGCACGCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACC GTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTC TCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCC TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCA GACCTCACTCCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGT CAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCGCTCCCTCTCTCCA CCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTC TCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGAACTCACTCCCTC TCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCC TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	798	c.352 others(815): Show c.352-6954_352-6953insGGAGGTCTGACGGTGGAGAGAGGGTGCG AGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGG TGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGTTCTGACGGTGGAGAGAG GGAGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGAGCGAGGTCTGACGGTGG AGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGTGAGGTCTGACG GTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGA CGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGTGAGGT CTGACGGTGGAGAGAGAGGGTGTGAGGTCTGACGGTGGAGAGAGGGTGCG AGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGG TGTGAGGTCTGACGGTGGAGAGAGAGGGTGTGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGGGTGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACG GTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCT GACGGTGGAGAGAGCGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGT CTGACGGTGGAGAGAGGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693708	A A	ACCTCCAC others(791): Show ACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCACCACCTC CACCACCACCACCACCACCACCACCTCCACCTCCACCTCCACCACCTCCA CCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCACCACCTCCACCACCACCTCCACCTCCACCTCCACCAC CACCTCCACCACCTCCACCACCACCTCCACCTTCACCACCACCACCTCCA CCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACCTCCACC ACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCACCTCCAC CTTCACCACCACCACCTCCACCTCCACCTCCACCACCACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACC ACCTCCACCTTCACCACCACCACCTCCACCTCCACCTCCACCACCACCAC CACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCA CCACCACCTCCACCACCACCTCCACCTCCACCACCACCTCCACCACCACC TCCACCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTC CACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCA CCTCCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACC ACCACCACCTCCACCTCCACCACCTCCACCACCACCTCCACCACCACCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	60	0.0167	798	c.299 others(815): Show c.2992+427_2992+428insTCCACCACCACCACCACCTCCACCTTCA CCACCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACC TCCACCTCCACCACCTCCACCACCTCCACCACCTCCACCTCCACCTCCAC CACCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCACCT CCACCTCCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACC TTCACCACCACCACCTCCACCACCTCCACCACCACCACCTCCACCTCCAC CTCCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCA CCACCACCACCACCTCCACCTTCACCACCACCACCTCCACCTCCACCTCC ACCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTC CACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCTCCACCT CCACCTCCACCACCACCACCACCACCTCCACCACCACCACCTCCACCTCC ACCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCTCCAC CACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACCACCACCA CCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCACCTCCACCACC ACCTCCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCAC CACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCA CCACCTCCACCACCACCTCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(791): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATAAGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTATATATACATATAAAATATATATACATAT GTTTTATATGTATATATATACATATAAAATATATATACATATAAAATATA TACATATAAAATATATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATATACATATAAAACATATATACATAT GTTTTATATGTATATATACATATAAAACATATATATATATGTTTTATATG TATATATATACATATAAATATATATACATATGTTTTATATGTGTATATAT ACATAGAAAATATATATAATATATATACATATGTTTTATATGTATATATA TACATAGAAAATATATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	300	0.0033	798	c.626 others(815): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATAAGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATACACATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAATATATATACATATAAAATATATACA TATAAAATATATATGTTTTATATGTATATATACATATAAAATATATATAC ATATGTTTTATATGTATATATATACATATAAAACATATATACATATGTTT TATATGTATATATACATATAAAACATATATATATATGTTTTATATGTATA TATATACATATAAATATATATACATATGTTTTATATGTGTATATATACAT AGAAAATATATATAATATATATACATATGTTTTATATGTATATATATACA TAGAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAAT ATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(791): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAATATATATACATATGTTTTA TATGTATATATATACATATAAAATATATATACATATAAAATATATACATA TAAAATATATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAACATATATACATATGTTTTA TATGTATATATACATATAAAACATATATATATGTTTTATATGTATATATA TACATATAAATATATATACATATGTTTTATATGTGTATATATACATAGAA AATATATATAATATATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	300	0.0033	798	c.626 others(815): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTATATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTGTATATATACACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATGTTTTATATG TATATATATACATATAAAATATATATACATATAAAATATATACATATAAA ATATATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAACATATATACATATGTTTTATATG TATATATACATATAAAACATATATATATGTTTTATATGTATATATATACA TATAAATATATATACATATGTTTTATATGTGTATATATACATAGAAAATA TATATAATATATATACATATGTTTTATATGTATATATATACATAGAAAAT ATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGCC others(791): Show GGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG GGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGA AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG CTAGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGG GCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGA AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0247 a0001c0004t0001g0247	1	373	0.0027	798	c.115 others(815): Show c.1156+291_1156+292insACCCAGTGCCTTCCCTGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT CCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CCCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCCTTCCCTGC CCCTCCCGGCCCCCCACCTAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC CCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGC CTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCT GCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGC CCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGT GCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAG GCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTG CCCTGCCCCTCCCGGCCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246072200	A A	ATGTGCTT others(791): Show ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCT GTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTG TGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTT TCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAG GGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTC TGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTG TTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATG CTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACT GTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTT CCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0100 a0002c0003t0001g0100	1	150	0.0067	798	c.532 others(819): Show c.532-142264_532-142263insCGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAG CACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAG TGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTG AGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGAAGCATC CACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACTAACAGG ATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAAC TAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAATCCCTCC CCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAA TCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGC ACACGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGT GGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGA GCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCC ACAGTGAGCACAGTGGAAAGCACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(791): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG GGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGC AGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	798	c.64 others(809): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCC CCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTCCACCC CCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCC CCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(791): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAG GGGGGGAGGAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAA GGAGGGAGGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGAGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0261 a0001c0001t0007g0261	1	322	0.0031	798	c.597 others(815): Show c.597+1546_597+1547insTCCCCCCCCTCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCC CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCT CCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCC TTTCCTCCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCT TTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCCTCCTTCCTTTCCTCCCT CCCTCCTTCCTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(791): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAG GAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGA AAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0258 a0001c0001t0082g0258	1	322	0.0031	798	c.597 others(815): Show c.597+1546_597+1547insTCCCCCCCCTCCCTCCTTCCTTTCCTCC CTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTC CTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCC CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TERT_chr5_1248167_1300068	1291227	C C	CGCCTCAC others(791): Show CGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTG CACGTGACAGGGACACCCGGGGACAGCGCCTCACTCACCCTGCACGTGAC AGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACAC CCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCC TGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGG ACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCC TCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCAC CCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACG TGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGG ACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGG GGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	392	0.0026	798	c.157 others(817): Show c.1573+2085_1573+2086insACTGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG ATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTC CCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGAC GCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTG TCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTC ACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAGTG AGGCGCGGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCTG TCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTG TCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291227	C C	CGCCTCAC others(791): Show CGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTG CACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGAC AGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACAC CCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCC TGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGG ACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCC TCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCAC CCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCCTGCACG TGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGG ACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGG GGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	392	0.0026	798	c.157 others(817): Show c.1573+2085_1573+2086insACTGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG ATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTC CCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGAC GCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTG TCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTC ACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAGTG AGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTG TCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTG TCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291227	C C	CGCCTCAC others(791): Show CGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTG CACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGAC AGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACAC CCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCC TGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGG ACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCC TCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCAC CCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACG TGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGG ACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGG GGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp1 others(66): Show HG00140.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG01099.hp2 HG01361.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18943.hp1 NA18951.hp2 NA18961.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18986.hp1 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19074.hp2 NA19087.hp1 NA19090.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0118 a0001c0001t0001g0119 others(64): Show a0001c0001t0001g0002 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0203 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0003t0001g0111 a0001c0004t0001g0025 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0065 a0001c0004t0001g0072 a0001c0004t0001g0075 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0011t0001g0096 a0001c0022t0001g0117	69	392	0.1760	798	c.157 others(817): Show c.1573+2085_1573+2086insACTGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG ATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTC CCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGAC GCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTG TCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTC ACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAGTG AGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTG TCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTG TCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291227	C C	CGCCTCAC others(791): Show CGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTG CACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGAC AGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACAC CCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCC TGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGG ACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCC TCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCAC CCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACG TGACAGGGACACGCGGGGACGGTGCCTCACTCACCCTGCACGTGACAGGG ACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGG GGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0002 a0001c0025t0001 a0001c0001t0002 a0001c0025t0001	a0001c0001t0002g0378 a0001c0025t0001g0385 a0001c0001t0002g0378 a0001c0025t0001g0385	2	392	0.0051	798	c.157 others(817): Show c.1573+2085_1573+2086insACTGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG ATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC ACCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTC CCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGAC GCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTG TCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTC ACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAGTG AGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTG TCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTG TCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291463	G G	GGACACCC others(791): Show GGACACCCGGGGATGGCGCCTCACTCACCCTACACGTGACAGGGACACCC GGGGGCCACACCTCAATCACGCTGCACGTGACAGAGACACCCGGGGACGG CGCCTCACTCACCCTACACGTGACAGGGACACCTGGGGACCGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTGCACGTGAC AGAGAAACCCGGGGGCCACGCCTCACTCACCCTGCACGGGACAGGGACAC CCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGAT GGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGCCACACCTC AATCACGCTGCACGGGACAGGGACACCCGGGGACGGCGCCTCACTCACCC TACACGTGACAGGGACACCCGGGGATGGCGCCTCACTCACCCTACACGTG ACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGAC ACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGG ATGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGCCACACC TCAATCACGCTGCACGGGACAGGGACACCCGGGGGCCGCGCCTCACTCAC CCTGCACGTGACAGGGACACCCGGGGATGGTGCCTCACTCACCCTACACG TGACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCACGTGACAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	392	0.0026	798	c.157 others(817): Show c.1573+1849_1573+1850insTCTGTCACGTGCAGCGTGATTGAGGT GTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACCATCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTC CCTGTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCACGTGCAGGG TGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCCCGTGCAGCGTGATTGAG GTGTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCATC CCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTG TCCCTGTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTC ACGTGTAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCCCGTGCAG GGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTG AGGCGTGGCCCCCGGGTTTCTCTGTCACGTGCAGGGTGAGTGAGGCACTG TCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCAGGTGTCCCTG TCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGC AGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAG TGAGGCGCCATCCCCGGGTGTC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TFPT_chr19_54102020_54120657	54109797	C C	CTCCACCC others(791): Show CTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGT CCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGC TCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCC ACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCC CTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGC GCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	429	0.0023	798	c.353 others(813): Show c.353+253_353+254insAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAAGGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGG GCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGAGCGCTGG GACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGG GCCGGGTGGAGAGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGAAG GGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGAGCGCT GGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGA GGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGA AGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCG CTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGAGCGCTGGGACTGAGG GAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTG GAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTG CGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGA GGGAGGGCCGGGTGGAAGGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGG TGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTG AGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGTGCGCTGGGACT GAGGGAGGGCCGGGTGGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar

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Search Results (Total: 8931 hits)