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
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(1660): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	294	0.0034	-1667	c.901 others(14): Show c.901+23_902-397del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148918	CACCACAC others(1660): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCAT	C C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0238 a0001c0021t0001g0238	1	294	0.0034	-1667	c.901 others(14): Show c.901+62_902-358del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPS6KA3_chrX_20144911_20271909	20245858	ACCTGTAA others(1660): Show ACCTGTAATCCTAGCACCTTGGGAGGCCGAGGCAGGAGGATCATGAGGTC AGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAACACAAAAATTAGCCAGGCGTGCTGGTGCATGCTTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGAAGAATCACTTTAACCTGGGAGGCGGAGGCTG CAGTGAGCCGAGATCGCGTCATTGCACTCCAGCATGGGCAATGGCATGAC TCCATCTCGGAAAAGAAAAAAAAAAAAAAAAAAAAAGGGAAATCCCAGTG TAAAGATCATGAGCTCTGGAGCCTGATACATCAAGTTTCAAAGCCTGGCT TTGTTCTTTATTATAGGTGTGACTTTGGGTAAGTGACTTAACATGAATCT CAGTTTTCTAATCCATAAAATTTGGATCCTAATTATGCTGGAGGTTGTGG TACAGTTCAGTATGCCCAGCCACACTGGGTGTTTAGGAGGTGTCAGCTTC TCTTTCCTCCTGCTCATCTTGTCAGGGGAAACGACAATTACTGTTATTTG AGGGGATTTTGAAGAGCCCTTTGCCCTAATGGGTCCACTTCCATTTCTAG GGCTAAAAATCTGAGTTCTGGATAACCCTTTAATATATTACTTGGGTTGG CTAATTCAGGGGTCCTACAAACAAGTTAAATGATTTATTCTGGTTTCCAG AGGTTTAATGAAGCCCTCCTACCCAAAATAGATACACCATTATGCTGGGC TTCAAAGTCCAAGCTTTTATTTGCTGTGACTGTGGCAAAAATCATTTAAA CCTCTGTTTCCCCATCTGTAAGACAAGTGATGCTAAATGTCTACTGAACT AATAAACATTATTGATAACATAACTATTAATTAACACTTAAACATATATA TTCTTACAAACATCTTTATGTACAAAAAGATAGCATTAATAAGTTACAAG GAAAACGATACAATGGTACTTGCTCAAATACACAATAAATCAGAACCTGT TTAACACAATTCTTGTTTGTGTAATATCAACTGTATCTCAATACAAAGTG TCTTAGGCATGTTTTTAGGTGAACTGACTTAGGAAGAAACAATCCAAATG ATCCACTCTAATTAAAATATGTATATATATATTTAAAACTCACCCTAGGT TTAAACATAACCTAGTAACAAAGCCATCAAAACTAATTTCTGAAAAGATA ACCACAAATGTAGTTTCTAATTAGAGTTCCATGATTAATTCTACATGCAT ATTTATTAAGCATAAATAAAGAGTATTAATAGGAATGCTTTACTAGGCTG GGCGCAGTGGCTCATGCCTGAAATCCCAGCACTTTGGATAGGTGGATTGC TTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCTGTC TCTACCAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGTACTCGA GTAGTCCCAGGTACTCAAAGGATTAGGCAGGAAAATCACTTGAGCCCGGG AGGCAGAGGTTACAGTGAGCTGAGATCGTGCCTCTATCTCAAAAAAAACA AAATAGAACACTTTACTAAACATTGTTAAGTTTTAACTGCTCACATAAGC TATAACTTAGAGAAACCTAAGGAAATTTTTAAAAACGAAAAATCTGAGGC CGGGCGCGGTGGCTCATG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp1 HG02615.hp1 HG01496.hp1 HG02109.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0038 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0001t0002g0038 a0001c0003t0003g0012 a0001c0003t0003g0013	3	212	0.0142	-1667	c.70- others(17): Show c.70-12711_70-11045del	RPS6KA3	ENSG00000177189.14	transcript	ENST00000379565.9	protein_coding	1/21			chrX	TogoVar
UGT1A10_chr2_233631448_233778300	233634665	CCTCTATC others(1660): Show CCTCTATCCCTTTATTTTGAGCCTATATGTCTTTACACGTGAAATGGGTC TTCTGAATGCAGCACACTGATGGGTCTTGACTGTTTATCCAATTTGCCAG TCTGTGTCTTTTAATTGGGGCATTTAGCCCATTTACATTTAAGATTAATA TTGTTATGTGTGAACTTGATCCTGTCATTATGATGCTAGCTGTTTATTTT GCCTACTAGTTGATGCAGTTTCTTTATAGTGTCAATTGTCCTGACAATTG GGTATGTTTGTGCAGTGGCTGGTACCGGTTTTTTCTTTCCATATTTAGTG CTTCCTTCAGGAGCTCTTGTAAGGCAGGCCTGGTGGTGACAAAATCTCTC AGCATTTGCTTGTCTGTAAAGGATTTTATTTCTCTTTCACTTATGAAGCT TAGTTTGGCTGGATATGAAATTCTGGATTGAAAATTCTTTCCTTTAGGAA TGTTGAGTTTTGGTCCCCACTGTCTTCTGGTTTGTTGGGTCTCTAAAGAG AGGTCTGCTGTTAGTCTGATGAACTTCTTTTCGTGTGTAACAGGACCTTT CTCTCTGGCTGCCCTTAACATTTTTCCTTCATTTCAACGTTGGTGAATCT GATGATTATGTGTCTTGGAGTTGCTTTTCTCGAGGAGTATCTTTATGGTG TTCTCTGTGTTTCCTGAATTTGAATGTTGGCCTGTCTTGCTAGGCTGGGG AAGTTCTCCTGAATAATATCCTGAAGAGGGTTTTTGGCATTTTTTAAAAA ATTATACTTTAAGAGATCTGGGATACATGTACTGTCGTATACTTTTAAAC AATCAAATCTCATGAGAAATCACTCACAATTGGGAGGGCAGTGCCAAGCC ATTCATGAGGGATCCATGCCCATGACCCAAACACCTCCCACCATGCTTCA TCTCCAACACTGGGGATTATATTTGACCATGATATATGGAGGGGACAAAC ATACAAACTACGTCAAAGGCAAAGCATGGCTACTGTGAAAGAAGGGTAAA AACACAGAGATGGCATCACCTCTGACTTCCAGGAGTCCTCAGCAGACTGA GGGAGACAAGTACATATTTTCCTGAAAGAGGTCACTGGAGTGATGGTGTG TTTAGAATATAGAAGTAGAGCAGTCACAGAGAGGCAGCCCAGCAGAGTGT TCGCACAAGGACTGGGCCAGCAACTCCCCACTGCATGCAACGTATCTGAG GAAAGTCATTAAAATAGGTGATGGTCACTTTCCATCAAGTCCCTGGTATG GTCCATGGAGGCAGGGTTGTCAATCTCATTTTGGCATTTCAGAGGCCTCT CAGGGTTTGGATATGGAAGAAGACAACCAGCAATGATTATGCATTGCAGA GATGCAGGTGAGCCCCAGTTTCTTGCCAGTTGGGAGGTCAGTGCTAAGAG CCTTGCTGTCTTTCCCTGGAACATGAGATGCCAATTTCTTTCTGGACAGA GAGTATTTGGTTGGCTAAAGTCAAAATCTAAATTTTGCTTTGGGATAAAT TCCAAAAATATTAGCATTATTCAAATTTACTTTCACTTTATCTTTCCGAA TCTTCAAGGTCCAAAAGCATTGCTGAATAATTCTGTTTCTAAACTCACTT GCAGCGTGCTCTCCCTCCAAGGCGAAGACCATAATCTACTCTTGTCTGGA AATCATACAAGTAGGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02080.hp1 HG02809.hp1 others(8): Show HG01167.hp1 HG02080.hp1 HG02809.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp2 HG03704.hp1 NA18906.hp2 NA19030.hp1 NA19086.hp2 NA20129.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0008 a0001c0001 a0012c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0012c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0136 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0272 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0004g0072 a0012c0008t0001g0138	11	302	0.0364	-1667	c.-18 others(10): Show c.-1857_-191del	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding		1782		chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233634665	CCTCTATC others(1660): Show CCTCTATCCCTTTATTTTGAGCCTATATGTCTTTACACGTGAAATGGGTC TTCTGAATGCAGCACACTGATGGGTCTTGACTGTTTATCCAATTTGCCAG TCTGTGTCTTTTAATTGGGGCATTTAGCCCATTTACATTTAAGATTAATA TTGTTATGTGTGAACTTGATCCTGTCATTATGATGCTAGCTGTTTATTTT GCCTACTAGTTGATGCAGTTTCTTTATAGTGTCAATTGTCCTGACAATTG GGTATGTTTGTGCAGTGGCTGGTACCGGTTTTTTCTTTCCATATTTAGTG CTTCCTTCAGGAGCTCTTGTAAGGCAGGCCTGGTGGTGACAAAATCTCTC AGCATTTGCTTGTCTGTAAAGGATTTTATTTCTCTTTCACTTATGAAGCT TAGTTTGGCTGGATATGAAATTCTGGATTGAAAATTCTTTCCTTTAGGAA TGTTGAGTTTTGGTCCCCACTGTCTTCTGGTTTGTTGGGTCTCTAAAGAG AGGTCTGCTGTTAGTCTGATGAACTTCTTTTCGTGTGTAACAGGACCTTT CTCTCTGGCTGCCCTTAACATTTTTCCTTCATTTCAACGTTGGTGAATCT GATGATTATGTGTCTTGGAGTTGCTTTTCTCGAGGAGTATCTTTATGGTG TTCTCTGTGTTTCCTGAATTTGAATGTTGGCCTGTCTTGCTAGGCTGGGG AAGTTCTCCTGAATAATATCCTGAAGAGGGTTTTTGGCATTTTTTAAAAA ATTATACTTTAAGAGATCTGGGATACATGTACTGTCGTATACTTTTAAAC AATCAAATCTCATGAGAAATCACTCACAATTGGGAGGGCAGTGCCAAGCC ATTCATGAGGGATCCATGCCCATGACCCAAACACCTCCCACCATGCTTCA TCTCCAACACTGGGGATTATATTTGACCATGATATATGGAGGGGACAAAC ATACAAACTACGTCAAAGGCAAAGCATGGCTACTGTGAAAGAAGGGTAAA AACACAGAGATGGCATCACCTCTGACTTCCAGGAGTCCTCAGCAGACTGA GGGAGACAAGTACATATTTTCCTGAAAGAGGTCACTGGAGTGATGGTGTG TTTAGAATATAGAAGTAGAGCAGTCACAGAGAGGCAGCCCAGCAGAGTGT TCGCACAAGGACTGGGCCAGCAACTCCCCACTGCATGCAACGTATCTGAG GAAAGTCATTAAAATAGGTGATGGTCACTTTCCATCAAGTCCCTGGTATG GTCCATGGAGGCAGGGTTGTCAATCTCATTTTGGCATTTCAGAGGCCTCT CAGGGTTTGGATATGGAAGAAGACAACCAGCAATGATTATGCATTGCAGA GATGCAGGTGAGCCCCAGTTTCTTGCCAGTTGGGAGGTCAGTGCTAAGAG CCTTGCTGTCTTTCCCTGGAACATGAGATGCCAATTTCTTTCTGGACAGA GAGTATTTGGTTGGCTAAAGTCAAAATCTAAATTTTGCTTTGGGATAAAT TCCAAAAATATTAGCATTATTCAAATTTACTTTCACTTTATCTTTCCGAA TCTTCAAGGTCCAAAAGCATTGCTGAATAATTCTGTTTCTAAACTCACTT GCAGCGTGCTCTCCCTCCAAGGCGAAGACCATAATCTACTCTTGTCTGGA AATCATACAAGTAGGTAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02080.hp1 HG02809.hp2 others(8): Show HG01167.hp2 HG02080.hp1 HG02809.hp2 HG02970.hp1 HG03017.hp2 HG03209.hp2 HG03704.hp1 NA18906.hp2 NA19030.hp2 NA19086.hp1 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0008c0011t0001	a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 others(8): Show a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0004g0284 a0008c0011t0001g0279	11	290	0.0379	-1667	c.855 others(19): Show c.855+16107_855+17773del	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7824863	ATCAATTG others(1660): Show ATCAATTGGTGAATAGAAAAATGGCTCTTGATTTTTCACCAGGATAGCTA GTCCACCTATGCTGTTTATTAGTTAACTGGGTTTTGTTTTTTTGTTTTTG TAGAATAAATAAAGTAGGCCCATATAGAGGGGTGGTCATGGGTAGCATTA TGTAACAGAGGTGTAAGTTTGCCTTTGGCACACTTTCCATTCAGGTTTGT AGCTCTCCTTTCAGTTTTTATATCCTTGACCTCTAAGGCTGCCTGTCAAT ATCTTAGAGATGGGAATAGAGTGGATAGGAGGTGGGCGCAGGGGGGAGTG TAATCTTCCTACAGGAAAACTTTTCTATTAATATCTTGTGTTCCATCCCC TCAGGGCCTACCCATCACTGAAGTTAATTAATAAGTCCATTCACAACGAG ATAGTCAATTATATTGATACGTTAAAGTGTAACTCTTCTCAGATAGCATT TTTATTTTTACAGAAACTTTAAATCCATCTGTATTAGTCCATTTTCATGC TGCTGATAAAAACATACCTGAGACTGGGCATTTTACAAAAGAAAGAGGTT TTAGGACTTACAGTTCTGCATGGTTGGGAAGGCCTCACAATCATGGTGGA AGGCAAGGAGGAGCAAGTCACATCTTACATGGATGGCAGCAGGCAAAGAG AAAGAGCTTGTGCAGGGAAATTCCCATTTTTAAAACCATCAGATCTCATG AGACTTATTCACTATCATGAGAACAGCATGGGAAAGACCTGCCTCTTCCC ACAACATGTGGGAATTCAAGATGAGATTTGAGTGGGAACACAGCCAAACC ATATCACCCTATTTCCAAAGAATGAATAATATTGGCATGATATATTTTAT AACAAATATGCACTTTACAGTACCAAGGAAAAAGGTGTTTGTGAAAAAGC TGAGGACCTTTTAATCACCACTCAAATAGGATTCCCTAGATTGTGCCTAT AACGTGTATAATTGTCCCTCAGTATATAGGGGATTGGTTCCATGACCTCT GCAGATACTAAAATCTGAGGGTGCTCAAGTCTCAGGTATAAAATGGGCAC AGTATATGCATATAACTTACACACATCCTTTCCTATACTATAAGTCATCT TTAGATTACTTGTAAAAGTTAATATAATGTAAACGCTATATAAATAGTTG TTATGATGTAGTGTTTTTAAAGTTATACTTTATTGTTGTATTGGTTTTTT TCTAATAATTTTGATCAGTAGTTGGTTGAATCCATGGATATTGAACCTAA GGATACAGAGGGCTGACTGTATGTACATGGATGAATCAGAAATTGCATTT GGCTGAAAGTAATTGATATTCCTGAACTGGTGGCCTTAACAAAACAGGGG TTTGTTTTTCTTTATCTAGAAATGTCTCACGTTAGGCAATTGAGGGCTGA TAATAGTGGCTCCATGATACTAACAGTTTCCTCAACTTTTTCTCTTTCTG CATCACCACCTTTAATTTTTGAAGATAGGACACAATCATCATTATTTCGA TTCTCTAGTATCTAGTACTAAGTCTCACAAATGACAAGCACTTGAGAAAT GTTTGAGTGCCTGAGTGGATCAACTGTCCACTTGATAAAACTTTAGGTAA ATTCCATCCTGTTAAACTGGTCCTGTGCGTTAGCCACTCACTTCCCACCA TTTGTTATTTCTTTCGCC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0243 a0001c0001t0030g0243	1	250	0.0040	-1667	c.156 others(19): Show c.156+23144_156+24810del	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
DAPK3_chr19_3953453_3976099	3973316	CCCCAGCA others(1658): Show CCCCAGCACTTTGGGAGGCTGAGGCGGGCTGATCTCTTACGGTCGAGCTT GAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCACCTAAATATACAA AAATTACACAGACCTGGTGATAGGCGCCTGTAATTCCAGCTACTCGGGAG GCTGAAGCACAAGAATTGCTTGAGCACTTGAATCCGGAGGCAGAGGCTAT AGTGAGCCAAGATCACAACACTGCACTCCATCCTGGGCGATAGAGTGAGA TTCTCGAAACACAGTAATCCGTTACCCTGACTGCTGGAAACAGCGTCAGT TACAGCCCCAATTCAAATGCGACAGCCAAACCAAACCTCAGGCATACCTA CATGTGGGCAAAACCTCAGCTGAGGCTTGGCCTTGACAATGCAGGGCCAG AGCTGCCCCCGCCTTTGCCGAGAACCCCACAGCCCTACTTCACAGTCCCC ACCTGCCTTCCTGAGGACAGAGTAAAAGGCGGAAAATGATCATGTTAACC TTATCAGCACTGACAAGATTAGGCCTCCTCACATCTTAGGCACTATTTAG AAAAACAAATAGTTTTCTAAGCTATTGGCGCTCACACCTGAAATCCCAGC ACTTTGGGAGGCTGAGGCAGAAGGATCGCTTGAGCCCGGGAAGGAGACCA GCCTGAGCAACATAGTGAGACCCCATTACTACAAAAAAAGTAAAAATTAG GTCAGCACAGTGGCTCACGCCTATAATTCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTAACACGGT GAAACCCTGTCTCTACTAATAAATACAAAAAATTAGCCGGGCATGGTGGC GGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGAGCCACTGCACTC CAGCCTGGGTGACAGAGCAAAGACTGTCTCAAAAAAAAAAAAAAATTCAG CTTCCACATACCATCTTAACGTTTGCACTACTAAAAAAGAATAGGACCCG GTATGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGG CTGATCTCTTACGGTCGAGCTTGAGACCAGCCTGGCCAACATGGTGAAAC CCCATCTCACCTAAATATACAAAAATTACACAGACCTGGTGATAGGCGCC TGTAATTCCAGCTACTCGGGAGGCTGAAGCACAAGAATTGCTTGAGCACT TGAATCCGGAGGCAGAGGCTATAGTGAGCCAAGATCACAACACTGCACTC CATCCTGGGCGATAGAGTGAGATTCTCGAAACACAGTAATCCGTTACCCT GACTGCTGGAAACAGCGTCAGTTACAGCCCCAATTCAAATGCGACAGCCA AACCAAACCTCAGGCATACCTACATGTGGGCAAAACCTCAGCTGAGGCTT GGCCTTGACAATGCAGGGCCAGAGCTGCCCCCGCCTTTGCCGAGAACCCC ACAGCCCTACTTCACAGTCCCCACCTGCCTTCCTGAGGACAGAGTAAAAG GCGGAAAATGATCATGTTAACCTTATCAGCACTGACAAGATTAGGCCTCC TCACATCTTAGGCACTATTTAGAAAAACAAATAGTTTTCTAAGCTATTGG CGCTCACACCTGAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18951.hp2 NA19083.hp1 others(1): Show HG02027.hp1 NA18951.hp2 NA19083.hp1 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0042 a0002c0003t0002g0045 a0002c0003t0002g0054 others(1): Show a0002c0003t0002g0042 a0002c0003t0002g0045 a0002c0003t0002g0054 a0002c0003t0002g0055	4	364	0.0110	-1665	c.-41 others(11): Show c.-4155_-2491del	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		2218		chr19	TogoVar
EEF2_chr19_3971056_3990463	3973316	CCCCAGCA others(1658): Show CCCCAGCACTTTGGGAGGCTGAGGCGGGCTGATCTCTTACGGTCGAGCTT GAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCACCTAAATATACAA AAATTACACAGACCTGGTGATAGGCGCCTGTAATTCCAGCTACTCGGGAG GCTGAAGCACAAGAATTGCTTGAGCACTTGAATCCGGAGGCAGAGGCTAT AGTGAGCCAAGATCACAACACTGCACTCCATCCTGGGCGATAGAGTGAGA TTCTCGAAACACAGTAATCCGTTACCCTGACTGCTGGAAACAGCGTCAGT TACAGCCCCAATTCAAATGCGACAGCCAAACCAAACCTCAGGCATACCTA CATGTGGGCAAAACCTCAGCTGAGGCTTGGCCTTGACAATGCAGGGCCAG AGCTGCCCCCGCCTTTGCCGAGAACCCCACAGCCCTACTTCACAGTCCCC ACCTGCCTTCCTGAGGACAGAGTAAAAGGCGGAAAATGATCATGTTAACC TTATCAGCACTGACAAGATTAGGCCTCCTCACATCTTAGGCACTATTTAG AAAAACAAATAGTTTTCTAAGCTATTGGCGCTCACACCTGAAATCCCAGC ACTTTGGGAGGCTGAGGCAGAAGGATCGCTTGAGCCCGGGAAGGAGACCA GCCTGAGCAACATAGTGAGACCCCATTACTACAAAAAAAGTAAAAATTAG GTCAGCACAGTGGCTCACGCCTATAATTCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTAACACGGT GAAACCCTGTCTCTACTAATAAATACAAAAAATTAGCCGGGCATGGTGGC GGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGAGCCACTGCACTC CAGCCTGGGTGACAGAGCAAAGACTGTCTCAAAAAAAAAAAAAAATTCAG CTTCCACATACCATCTTAACGTTTGCACTACTAAAAAAGAATAGGACCCG GTATGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGG CTGATCTCTTACGGTCGAGCTTGAGACCAGCCTGGCCAACATGGTGAAAC CCCATCTCACCTAAATATACAAAAATTACACAGACCTGGTGATAGGCGCC TGTAATTCCAGCTACTCGGGAGGCTGAAGCACAAGAATTGCTTGAGCACT TGAATCCGGAGGCAGAGGCTATAGTGAGCCAAGATCACAACACTGCACTC CATCCTGGGCGATAGAGTGAGATTCTCGAAACACAGTAATCCGTTACCCT GACTGCTGGAAACAGCGTCAGTTACAGCCCCAATTCAAATGCGACAGCCA AACCAAACCTCAGGCATACCTACATGTGGGCAAAACCTCAGCTGAGGCTT GGCCTTGACAATGCAGGGCCAGAGCTGCCCCCGCCTTTGCCGAGAACCCC ACAGCCCTACTTCACAGTCCCCACCTGCCTTCCTGAGGACAGAGTAAAAG GCGGAAAATGATCATGTTAACCTTATCAGCACTGACAAGATTAGGCCTCC TCACATCTTAGGCACTATTTAGAAAAACAAATAGTTTTCTAAGCTATTGG CGCTCACACCTGAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18949.hp1 NA18951.hp2 others(2): Show HG02027.hp2 NA18949.hp1 NA18951.hp2 NA19083.hp1 NA19091.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0045 a0001c0008t0002g0070 a0001c0008t0002g0071 others(1): Show a0001c0008t0002g0045 a0001c0008t0002g0070 a0001c0008t0002g0071 a0001c0008t0002g0151	5	403	0.0124	-1665	c.15 others(11): Show c.1573_*3237del	EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding		2739		chr19	TogoVar
KHDC1L_chr6_73218544_73230496	73224594	GTGAAACC others(1657): Show GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGG CAGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGCGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGATTCCATATCAAAAAAAAAAAAAAAAAAAAAA ACACGAGGCCGGGCGCAGTGGCTCACACTTGTATTCCCAGCAGTTTGGGA GGCCGAGGCCGGCAGATCAGGAGGTGAGGAAATCGAGACCATCCTGGCTA ACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGC GTGATGGCGGGCGCCTGTAGTCCCAGCTGTTCTGGAGGCTGAGGTGAGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGGCAGAGCAAGACTCCGTCTCGAGTCTCAAAA AAAAAAAAAAAAAAAGTACAAAAACTAGTTAGGCGTGGTGGCAGGCGCCT GTAATCCCAGGTACTCTGCAGGCTGAAGCAGGAGAATCACTTGAACCCAA AAGGCAGACGTTGCAGTGAGCCAAGATCACGAGCGAGAATCTGTCTCAAA AAAATAAAAATAAAAAACAGATGAAGGAGGGGACGTGGGCAAAGGCCACT CACCGAAGATGAGCTCCTCCTGGTCCTCTTCCATGTGGAACACCATTGGA GAATGAAAGTTTTCGGGCAGGGTCCACCACGGCTCCTTGCTGAGAGCACT CGTTCCCACGGCCATGCTGTGCTCCCACCTGATTCAGAATAGGGGAAAGT CTAACAAACTGGTTGGCAAAAGACTTGGAAAAGCGAGGAAGGGCCTAGGC TCTGTCCTTAAAAAGGGTTGTCCTTAATAAGGGTTGTTGGAATCCAAACA ACCCGCCCCTTGATCCACCTTAGGGTGGATGTCCAATCCCCGGAGGTCTT CCCAAGATAATTCATTCCAAGTAATTATCTGCTCTGAGCTTAATTCTTTC AAGTCAAACTTAATCATCTGATAAGTGCTTGGCTTTCTGATGTCCTGGAA TCAGAAATTTTTCTTCACTCTAAATTCAAAGAATTTTGGAGCAGGGGGTT GAGGGTATGGAGGTGCAGGAAGGCTCCAAATGGGCTCCCTAGATTTGCAC AGGTGTCGGCAGCCACCCAGTGACCACACAGTGTATTCCAACACGACTTG GTTTATTTGGTGTGTTGCGTCAAGGGAGAGCAAACAATAGAGGAAAATAA ACTTGATAGGATAGTGTCATAGGGAGCCCATTGTAGGAGTTGACTAGGGC AGTCCAAGGCGTGTTTAAGGAGTAGGAGCCAGTTCTCTAAAATGGTGCAA TTTGATGATTATTCTGGTAAATTTATCTAGGAAGTTGAGAGACTAATGTG GTCTTCACTGCAGAATGTTATCTCTCTCTGGTTTCAAATATAGTTACAGA ATAGACTTTCTATATCTTGTTGCATGACAATCACTGAGCAAACTTGACTG CTTAAAATATTCTTCGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGC ACTTTGGGAGGCTGAGGTGGGCGGATCAGGAGGGCAGGAGTTCAAGACCA GCCTGACCAACATGC	G G	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0024 a0004c0007t0007g0024	1	420	0.0024	-1664	c.-85 others(12): Show c.-850_113-247del	KHDC1L	ENSG00000256980.5	transcript	ENST00000370388.4	protein_coding	1/3			chr6	TogoVar
NBR1_chr17_43166214_43216688	43181868	CAGCTACT others(1657): Show CAGCTACTTGGGAGGCCAAGGCAGGAGAATCATTTGAACCTGGGAGGCAG AGGTTACAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAA GAGGGAAACTCCATCTCAAAGACAAAAAAAACCCAAAAAACTCTTGATGC CCCCCTTTTTTTTTTCCTAAAGAGGCTGGGTCTTGCTATGTTACCCAGGC CAGCCTTGAACTGCTGGGCTCAAGTGATCCTGCTGCCTCAGCCTCCCGAG TAGCTGGGACTATGGGTGTGCACCACCATGCCTGTTCTAGAACTATGTTT ACTGGTTCACATTTTTCACCTCTTTCCCTCACTCTGTTCTCTCCTTTTTT TTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTCAGGCTGG AGTGCGGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCTGGGGTTCA AGTGAGTCTCATGCCTCAGTTTCCCAAGTAGCTGGGATTACAGGTGTGCG CCACCACACCCAGCTAATTTATTTTGTAGTTTTTAGTAGAGACAGGGTTT CGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTTACCCAAGTGATTCGCCT GCCTTGGCCTGCCAAGGTGCTGGGATTACAGGCATGAGCCACTGTGCACA GCCTATGTCACTCTGTTCTCTATAGCCCATACAATGTTATGTTTAAGGCA GAGATGACAGCCACTTTTTGGACATGGAATGCTTTTTTTTTTGTTTTTAG TTTCTAATTTTTAAAAATTTGTATGTTTAAATATAAAAATGTGTATAAAA TGTGATGTTTTGAAATATGTATACATTGTGAAATGATTACCACAATCAAG TTAATTAACACATCCATCACCTCAGATGTAGTTACCCATTGAATGCTTTT TTTCTTTTTTTTTTGCGACGGAGTCTCGCCCTGTTGCTCATGCTGGAGTA CAGTGGTGCGATCTTGGCTACCAGCAGCCTACACCTCCCAGGTTCAAGTG ATGTTCCTGCTTCAGCCTTCCTAATAGCTGGGATTACAGGTGTATGCCAC CATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGCGTTTCACCATGT TGGCCAGGCTCATCTCGAACTCCTGACCTCCGGTGATCCTCTTGCCTTGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCGTCTT TTTTTTTTTGAGACAGGGTTTTACCATGTTGCCCAGGCTAGTCTTGAACT TCTAGGCTTAAGCAACCCATCCACCTCAGCCTCCCAAAGTGCTAGGATTA GAGGTGTGAGCCATCACGCCCGGCCTCTTTTTTTCTTTGACGTGTGTGTC ATTCCTTTTGTTGTTGTTTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGC TGGAGTGCAGTGGCGCGACCTTGGCTCACTGTAACCTCCACCTCCCGGGT TCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGGCAT GCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCATGTTGTCCAGGGTGGTCTCAATCTCTTGACCTCATGATCCACCTGC CTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGC GACACGTGTGTCATT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18522.hp2 NA20129.hp1 HG02615.hp2 NA18522.hp2 NA20129.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0121 a0004c0004t0004g0122 a0004c0004t0004g0123 a0004c0004t0004g0121 a0004c0004t0004g0122 a0004c0004t0004g0123	3	314	0.0096	-1664	c.207 others(17): Show c.207+1052_207+2715del	NBR1	ENSG00000188554.15	transcript	ENST00000590996.6	protein_coding	5/20			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168560546	GCCCTGAG others(1657): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATAC CCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGG TGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG04184.hp2 HG03516.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0164 a0001c0001t0001g0077 a0001c0001t0001g0164	2	180	0.0111	-1664	c.637 others(19): Show c.637+11368_637+13031del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KANK2_chr19_11159270_11202545	11184166	AGGAGTTC others(1656): Show AGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCAGTCTCTACTGA TAATACAAAAATTAGCAGAGTATGCTGGCAGGCACCTGTAATCCCAGCTA CTCGGGAGGATGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTG CAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGATGACAGAGCGAA ACTCTGTCTCAAAAACAAAAACAAAAACAAAAATGAAGACCTCTGAGATC CTCATGGGTGCGGTGGGGGAGTGCCGGAGTTTGGCACAGGCAAAAATTGG CAAGGGATAATCTTCTAGAACAGGGTCAACAAACCTGGGAAGGGCTAGAT AGCAAACATTTTTGGTTACGTCACACATAAGGACTCGGTTGCAACTGCTC AACTGTGGCATAGTTCTAACACAAAACCAGTCACAGACAGTATGTAAGTG ATTCCGCGTGGCTGTATCCAATAAGTTTGAATTTCACATAATCTTGTCAT GTCAAGAAATATTTTTTTTGAGACAGGGCAAGACTCTACTTTTTTTTTAA TGTGAAAAAAAAAAATCAATAAATAAACTAGAGCAGCGCCTAAATCCCAT TCTGCCCCAACAGAGAAGCAGGCAGTGACTTCAGGGAACTTCTTTTTTTT CTTTTTTTTTTTTGAGATGAAGTCTCGCTCTTGTTGCCCAGGCTGGAGGG CAATGGCGTGATCTCAGCTCACTAGCAACCTCTGCCTCGCGAGGTCAAGT GATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCA TCATGCTCGGCTAATTTTTGTATTGTTGTAGAGATGGGTTTCACCATGTT GGCCAGGGTGGTCTCGACCTCCTGACCTCAGTTGAGCCACCACGCCCAGT CTACTTCAGGCAACTTCTGTTGCCCAGGCTGGAGTCCAATCATAGCTTGC TGCAGCCTCAAAATCCTGGGCTTGCCGGGCATGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGGGGCCGAGGTGGGTGGATCGCTTGAGCCCAGGAGT TTGAGACCAGCCTGGGCAACATGGTGGAACCCCATCTCCACAACAACAAC AACAAAATTCCTGGGCTCAAGGAATCCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGCTGCACGCCACCATGCCAAACTAATTTTTAATTAGTAG AGATGGGGTGTCACTATATTGCCCAGGCTGGTCTCAAACTCCTGGCCTCA AGTGATCCTTCTGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAG CCACTGTACTTGGCCCAAAATATATTTTTAAAATCATTCAACCATTAAAA AAAAACGTAAAAATCATTCTTAGCTGTGGGTTGTAGAAAAACAGGTTTCA GGCTGTATCTGGCCCACAGGCCGTAGTTTGCCAGTTTTGACTCTGGAAGA TACCAGCAACTTCTAAAAACTGCTCAGAGAAAAAATGGAGAAAGGCTACA AGTAATTGACTTACAGAGGAACCTTATTAGGCATACACAGAGAAGCCCTA TCTCTCACTGCCTATCAGAGCTATGCCAATGAAAACAATAAGGAGGGCTG AATTCCGAGGCTCGCATTTATAATCCCAGGGCTTTGGGAGGCTGAGGTGG ATCACTTCAGCCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01071.hp1 others(17): Show HG00099.hp1 HG00140.hp1 HG01071.hp1 HG01361.hp1 HG01496.hp2 HG01891.hp2 HG01952.hp2 HG02109.hp1 HG02280.hp2 HG02723.hp1 HG03486.hp1 HG03927.hp1 HG04228.hp1 NA18906.hp1 NA18981.hp2 NA18982.hp1 NA18991.hp2 NA19011.hp1 NA19070.hp1 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0023	a0001c0002 a0002c0011 a0003c0003 others(3): Show a0001c0002 a0002c0011 a0003c0003 a0003c0013 a0009c0012 a0023c0018	a0001c0002t0002 a0002c0011t0014 a0002c0011t0041 others(10): Show a0001c0002t0002 a0002c0011t0014 a0002c0011t0041 a0003c0003t0014 a0003c0003t0019 a0003c0003t0040 a0003c0003t0041 a0003c0003t0073 a0003c0013t0075 a0003c0013t0076 a0009c0012t0014 a0009c0012t0074 a0023c0018t0077	a0001c0002t0002g0124 a0002c0011t0014g0348 a0002c0011t0041g0349 others(17): Show a0001c0002t0002g0124 a0002c0011t0014g0348 a0002c0011t0041g0349 a0003c0003t0014g0051 a0003c0003t0014g0133 a0003c0003t0014g0134 a0003c0003t0014g0354 a0003c0003t0019g0040 a0003c0003t0019g0132 a0003c0003t0019g0135 a0003c0003t0019g0350 a0003c0003t0040g0039 a0003c0003t0040g0352 a0003c0003t0041g0351 a0003c0003t0073g0139 a0003c0013t0075g0022 a0003c0013t0076g0023 a0009c0012t0014g0355 a0009c0012t0074g0353 a0023c0018t0077g0041	20	394	0.0508	-1663	c.124 others(19): Show c.1249+7002_1250-5447del	KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding	4/12			chr19	TogoVar
SERPINF2_chr17_1737871_1760265	1739201	AGCCGGAC others(1656): Show AGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTG GCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAG CAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTG AGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGC CTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGAT GCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAG CAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTG AGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGT GGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTG AGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAG CCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTG AGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGT GGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGAT GCAGGGAGTGAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02559.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0162 a0001c0001t0012g0163 a0001c0001t0001g0162 a0001c0001t0012g0163	2	445	0.0045	-1663	c.-37 others(11): Show c.-3711_-2049del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3669		chr17	TogoVar
SORCS1_chr10_106568663_107169706	106664278	TGGTATTC others(1656): Show TGGTATTCTTTTTGAATATAAAATTACTTAATCGTCACTGATGTTTTATT TGATGTTAGTCAGAATTTATAAGATCTCAGATGGGCCAGGCGCGGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAG GTCAGGAGATCAAGACCATCCTGGCTACTATGGTGAAACCCCATCTCTAG TAAAAATACAAAACATTAGCTGGGCTTGGTGGCGGGTGCCTGTAGTCCCA GCTACTCGGGAAGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTAACAGAG TGAGACTCCATCTCAAAAACAAAGAGGAAAAAAAAGATCTCAATGAACTG AAGAGTGAGGGGTCACAGGTATCATTCAGCCTTGGTCTATGATTGAGTAG CATCTGGAACAATTTGATCCCTCTGTGTTTCAGCCTCCTATCATCAATAC CAAAGACAGACTAATATAACTTCCTTGACTGATTGAGCTGGTTAAAAAAA AAAATCAATTCTTAAATTAGCTTGAGGGGTTTCCAATGCCCTTTACAGTA TCTAAACATGCTAGTACCAGCAAGTAATAAAACTCCTGTCTTTTGCATTC CTTCCCCATTAAGTTTAGTTATTTTATTAACCTTTTCATTTTTTTCCTCC ATGGTACTATGCTAAGACCTCACTGACCCATTGCTATAAAAGTGTTATTT ATATTTCCTTGGATGTCGTGTTATCATTCAAAAAAATCATAGCTTATTCC TTTATTCAAAGGTTCTAGGAATCCCTAACATCAGAAATAGGAATCATTAC AATCCTTTTCTATGTGTTTTCCTTCCTTGAAAAGAATAGTATCTATTATT TTGATAATCTTTTATAAAAATTAAACACATTTAAAATTTCAAATACAGAG TACATAAATGGAAGTCTCACCCCCTCAAGTGGATTCTCTGTACTGTAGCT GGCTCAAGAAAGGAGAAGGGGCTTTGTCAAGTAAAACTGGCTGATTGGTA AGGTTCCTATCTCCTTACTTCTCCTTTCTCCTTCTTCCTTCCCTTTTTTT TTCTCTCTCTCTTTTTTTTTTTTTTTAATAGATGGGGGTTTCCCTATGTT GTCCAGGGTGGCCTTGAACTCCTGGACCCAAACGATCCTTCCACTTCAGC CTCCTGAGTAGCAGGGACTATAGGCATGTGCTACCACAATAGCTTCTTTT TAACTTTTTATTATCAGAACTTTCAAATATGCATGAAGAAAAGTAATGTA ATAAATTCCCATGTACTCATTACCCATCTCCAAAAATTATCAATACTTAT CTGCTTTTTAACACATTAAAACAAAACTCACAAAAATATGTATCTCTAAA AAATAAGACTTATTTTTTTCTTAGCCTAACCAAAATGACTTTATCATGCC TAAATATATAATTCTTTAATATCACCTATGATGGGTAACTTAATATGCGA ACTTGACTGCGCCATAGTATGCCCAGATATTTGGTCAAATGTTACACTTC TGTGGGTTTTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGCC GCCCAGGCTGGAGTGCAGTGGCACGATTTCAGCTCACTGTAAGCTCTGCC TCCCCTGGGTTCAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0021 a0001c0001t0020g0021	1	130	0.0077	-1663	c.230 others(19): Show c.2303+1748_2303+3410del	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	17/25			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235595	TGCCTCCC others(1653): Show TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTG ATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCAC CACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTGCT GTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGCCA GTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCT GAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGG CCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACG GCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCA GCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGT GAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGA ACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC ACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCC AGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTG TTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCT GCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGG TGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCG GTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGG TGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTG TTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTG	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0081 a0001c0001t0056g0081	1	106	0.0094	-1660	c.136 others(19): Show c.1362-3410_1362-1751del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50582981	CAGCTTTA others(1653): Show CAGCTTTAAAGGTTGACAGTAATAACCAGGGATAGAGAGGCTAGCGTGCA TGAGGCACTATTCTAAGTGCCCTGCAAATGTCCATTAATTCGATCCTTCT CAGAACTCTTTTAGGTAAATACCTTTATCCCCATTGCACATTTGAGAAAA CTGAGATACAAAGAGGTTAAGTAATTGGTCAAAAGCTCATGCAAGCTAAT AACTGAACCTAGTCTAGCCCCAGAATCCATGTTTTTAATCACTTCTTTAT CCTGCCTCCCCAATATCTCCTAAAGGTCAAACAAGAATACATCTGAAAAT GCTTTTCAAACCATTAAAAGATACATTAATAATAATCATTATAATAATTA GTGTACCTCCCAGCACCCCCAATCCTCTTGGTAACTGCCCTGATTCACCC TTGGAGGGAACCATTCCCAGCTATCATCAGTTCATGCTTCACCTTCTGCA GAAGATGTGCTGACCTCAGGCCCTGGAGTGAAGCACATGATCTGGCTATC CAATAGGAATAGGCCAATATACCTGGCCACAGCCACTGGTCCAGCATGAG GCACATGACTCATCATGACCAGGAAGTTTGTTTGTAACTAAGCAAACCTG AAGCTGCTAGAAGTCTCCATTCAGAGCCCAAAAACATGTAGCCAAGATGA ATCCTCATGACATCATTTTGATCCTTAGTCTAGCCCCTCCTGAAGGCAGA TCCAGTCCTTAGATTTGCAATTACTTAAGGCCATAGACTTTTTCACTTGA GACAGTTTGAAATGAGTTTTCTGTCACTTGCAACCAAGGCACTCTGTTCT ATCAACTAAATTTACCTATACTTTCAGTACTTTCCCCTCTCTAAAAATAA AACTTGAAGACTATTCAAGTGAATTTTAATTGGCTAGTCTTGACAAAGCA ACACTTCTGAGGCTGGACTTCCTGACAAGATAACTCCACATTATGTAGAA CAGACTTCATTTTTCCAATGCCACAGAACAAGGAATCTGGCCTATCAAAA AATTTGTTTCAGAAAATTTCATTTTTAATCAAAAGAACTAAGCCTACAGT TTCCAACTTTGTAAGAAAACAACTATGATATTTATTTTCTCAGCCTTCTC AATTCTTGTTTTTCCTCTAAACAACTATCCATATAGAATCACTAAAAAGA ATATGACTGAATTCTTTAAAACATTTTAAACACAAAAAGTAGAAGACATG AATGGCTATAGATCATTTCTTCCTCCTAAAGAAGATTGGCTGGGCGCAGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAATGGGGGAGGATCA CGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACGCTGTCT CTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAAT TCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCCGGGAGGC AGAGGTTGTAGTAAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGTGAC AGTGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGATCAACTAC ACCTTAACTTTATTAATTTTGGCAACAAAACAAACCAGTTTGGAGTTTTC ATCACATTCATTAAGCTATTTATTGTACCAGTTCACATTCCTTCCCTGTG GTTTCTTCAGA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04204.hp2 HG03704.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0074 a0001c0002t0001g0067 a0001c0002t0001g0074	2	312	0.0064	-1660	c.-58 others(19): Show c.-589+5512_-589+7171del	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
TPO_chr2_1408463_1548673	1530255	CCCCCCAC others(1653): Show CCCCCCACTGTGTGCAACCTCCTCAAATCCCCCGCCAGTGTGAGCAACCT CCTAAAATCCCCACACTGTGAGAAACCTCCTCAAATCCCCCCAAGTGTGT GCAACGTCCCCAAATATCCCCAGTGTGTGCAACTTCCCTAAATCCCCTAA ACTGTATTCAACCTCTCCAAATCCCCACCACTGTGTGCAACCTCCCGAAA TCCCATCAACTGTGTGCAACATCCTCAAATCCCCCTCACTCTGTGCAACC TCCCCAAATCTCCCCCACTCTGTGCAACCCCCCCAAATCCCCCCCATTGT GGGCAACGTCACAAAATCCCACGATGTGTGCAACCTCCCCAAATCCCCCA CACTCTGTGCAACCTCCCCAACTCCCCGACTCTCTGCAACCTCCCCAAAT CCCCCACACTGTGTGCAACCTTCTCAAATCCCCCTACTGTGTGCAACCTC CTCAAATCCCCCCCACTGTGTGCAACCTCCTCAAATCCCCCCCACTGTGT GCAACCTCCTCAAATCCCCCCATGGGGGGCAACGTCCTCAAATCCCCCGA CTGTGTGCAACCTCCTGAAATCCCTTCACTGCGTGCAACCTCCCCAAATA CCCCCACTGTGTGCAACCTCCGCAAATCCCCCCACTGTGTGCAACCTCCC CAAATCCCCCCCACTCTGTGCGACCTCCCCAAATCCCCCCACTATGTGCG ACCTCCTCAAATCCCCCCAGTATGTGCAACCTCCTCAAATCCCTCCACTC TGTGCAACCTCACCCTATCTTTCCCACTGTGTGCAACCCCCCCAAATACC CCCACTATGTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCTCCCCA AATCCCCCCACTGTGTGCAACCTCCCCAAAACCCCCCACTGTGTGCAACC TCCCCAAATCCCCCCCACTGTGAGCAACCTCCCCAAATCCCCACACTGTC TGCAACCACCCCAAATCGCCCCCACTGTGTGCAACCGCCTCATATTCCCC CCACTGTGTGGACCCTTCTCAAATCCCCCCTAATGTCAGCAACTTCCCTA AATCCCCCAACTGTGTTCAACCTCCCCAAATCCCTCCCACTGTGTGCAGC CTCCCCAAATCCTCCCGACTCTGTGCAACCTCCCAAAATTGCCCCCACTG TGTTCAACCTCCCCAAATCCCTCCCACTGTGAGCAACCTCCCCAAATCCC TCCCACTGTGTGCAGCCTCCCCAAATCCTCCCGACTCTGTGCAACCTCCC AAAATTGCCCCCACTGTGTGCAACCTCCTCAAATCCCTCCCACTCTGTGC AAACTCCCCAAACCCCCACACTCTGTGCAACCGCCCCATATCCCCCCCAC TCTGTGCAACCTCCCCAAAACACCCCTCAATGTGTGCAACCTCGCCCAAT CACGACACTGTGTGCAATCTCCCCAAATCCCGCCCACTCTTTGCAACCTC GCCAAATCCCCCCCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCT GTAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCAAATCACCCC CACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCAA ATCCCTCACACTGTGTGCAACCTCCTCAAATCACCCTACTGTGTGCAACC TCCTCAAATCA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01192.hp1 others(1): Show HG00741.hp2 HG01167.hp1 HG01192.hp1 HG02486.hp2	a0004 a0005 a0011 a0004 a0005 a0011	a0004c0005 a0005c0008 a0011c0035 a0004c0005 a0005c0008 a0011c0035	a0004c0005t0003 a0005c0008t0002 a0011c0035t0002 a0004c0005t0003 a0005c0008t0002 a0011c0035t0002	a0004c0005t0003g0017 a0005c0008t0002g0088 a0005c0008t0002g0090 others(1): Show a0004c0005t0003g0017 a0005c0008t0002g0088 a0005c0008t0002g0090 a0011c0035t0002g0106	4	130	0.0308	-1660	c.261 others(20): Show c.2619-10306_2619-8647del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1888186	GGGTTTGC others(1652): Show GGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGA GTGTGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCTGTAGGTTCTGAGG AGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGTTGACTGT GAGGAGACACTGAGTGGGGTGAGGGTTGTGAGGAGATACTGAGGTGATAG TTTTGAGGAGACAGTGGGGTGAGAGTTGTGAGGAGACACTGAGTGTGGAG GGCTGTGAGGAGGCACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAG TGGGGTAAGAAGTCTGTGGAGATACTGAGTGGGGTGAGGGGTCTGTGAGG AGACGCTGAGTGGGGTGAGGTATGGGGAGACACTGAGTGGGGTGTGAGGG GTCTGTGAGGTGTCACTGAGTGTGGTGAGGTTTGTGAGGAAACACAGAGT GTGGTAAGGGTCCTGAGGAAACACTGAGTTGGGTGAGGGTTTGTGAGGAG ACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTT GTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAGTGGGG TGAGTATTGTGAGGAGACACTGAGTGGGGTGAGAGTTATGAGGAGACACT GAATAGGGTGAGGTTTGTGAGGAGACACTGAGTGGGGTGAGAGTTATGAG GAGACACTGAGTTGGGTGAGGGTTGTGAGGAGACAGTGGGGTGAGGGGTC TGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGAGACACTGAGGT GTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGAGGAAAC ATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTGAGGGGTCC GTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACACTGTGA GTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGAGGAGAG CGTGGGGTGAGGTTTATTAGGAGACACTGAATGGGGTGAGGGTTGTGAGG AGACATTGAGTGGGATGAGAGGTGTGAGGAGACACTGAATGTGGTGAGGG TTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAGGAGACACTGAGTG GGTAAGAGTTGTGAGGAGACACTGAGTGGGGTGAGGGGTATGTGAGGAGA CAGTGATGTGAGGCATCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTG TGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGG GTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTATTGAGGAGA CACTGAGTAGGGTAAGGAGTCTGTGTGGAGACACTGAGTGGGGTGAGGGG TTTGTGAGGAGACACTGAGTGTGGGTGAGGGGTCTGTGAGGAGTCATGGA GTGTGGTGTGAGTTGTGAGAAAACTCGGAGTGGGGTGAGGGTCGTGAGGA AACAGTGGGGTGAAGGTTTGTGAGGAGACCCTGAGTGGAGTGAGGGTTGC GAGGAGACATTGAGTGGGATGAGGGTTGTGAGGAGACACTGAGTGGGGTG AGGGTTGTGAGCAGACACTTCATGGGAGGAGGGTTTGTGAGAAGACACTA GGTGGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0012 a0012	a0012c0084 a0012c0084	a0012c0084t0003 a0012c0084t0003	a0012c0084t0003g0356 a0012c0084t0003g0356	1	363	0.0028	-1659	c.118 others(19): Show c.1182+2486_1183-3718del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
DIP2C_chr10_269201_694668	321579	GCGGGGCT others(1651): Show GCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGC TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCT CCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTC CGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCC GGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGA GACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAG ACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGA CCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGAC CGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACC GGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCA GTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGG CGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGT GTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCG CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCAGTGTTGTTAG AACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGTTGTTAGA ACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0076 a0001c0007t0002g0076	1	88	0.0114	-1658	c.392 others(19): Show c.3924+3769_3924+5426del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
SOCS6_chr18_70284045_70335199	70286412	GTGTAAGC others(1651): Show GTGTAAGCCTCCCTGTCTGGCCTAGGCAAGAGTTTAAGTAGGTGAGTCAT GGGCACATATCTTAGCTGTGCTGGGTGTTGTTAGGGCAAAGATAAGATTT CCTCCAAACGGAGAGTGAGTGCTGATGGAAAAAAGGGTTCATTGGCAGAC AGCCAAGAAGATATCACATGTTTATGGCCAAGAAGTGTTTGGAATTCAGC CATGCATGGAGATTTTAATAGTATATCTAGACACTAATATCTCTACCCTG AAGTTGTTGCTATGTTATTGTTATCACTATGTAGTGGTAAAGGGCTCATA TTCTGAAATCACAGAGGCCTAAGCCTGAATTCCAACTCTGCCCCACAGTA GCTGTGACTTTGGGAGAGTAAATTACTACTATCACACTGCAAGTCTCAGT TTCCTCATCAGAAATATGGCGGTGATGTTAATACTGACCTTATAGGATTG ATATGAAAATTGAAGGATATGACATATTCAAAAGAGCTGAATGCAAGGCC GGACTCATGAAGTTTTATTACCTAGATTAGGCCCCTAGGGGTTTTTGTGC ATTATTTCATGTAATCTTACAACTATTTGACATAATTAATATCGAGCCCC CTCACTCACCCTTTACAAAAGTAGAAACTGAGGTTCCAACTGAGAAACTT GTTTGAGGTCACACAGCTGTATGACCTGTCAAAACTGTGCTTCTGCACCA GCTCTGCCAGACTCAGAACCCCAGGGTCTTAACCATACATTTAAGTGTCT CCTAAAAGAGTCAACACTTCCCCATCCTGCACAGCCCCATTGCTGCGTGA AAGGCTCACTAACCCCCTGCTGCACAGCTCCTACTGGTTGTCATTTTAGA AAATATAGGGAGACACTGGAACTCCGAGGCAGTAGGATTGAAACGTTTGC TTCTTTTCTTTTTTTTTTTTTTGAGACGGCATCTAGCTCTGTCACCCAGG CTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCCGCCTCCCGGG TTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCA GCTGCCACCACGCCCAGCTACTTTTTGTATTTTTAGTAGAGATGGGGTTT CACTGTGTTGGCCAGGCAGGTCTCGATCTCCTGATCTTGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTTAATTA CTGTTTGTTGTGTTTCCCACTAACTTCTCTGACAATTCTATTTCAACCTA CATTCTCCAATCACTGTAATTAGATATTTGAGAATTGTGTTGCATTTCAA TCACGGTAACAATAATGGTAGTATTTTATTAATAAATTCAAGTAAAAACT GAAGATGACAATGATAGTGTATGATACATGACATCAACTTTGCATCACCT AAAGATCCAACTTTTCTGTTATGAATCTAGATTTCTTGGGGAAATCCAGA TTGTATATTGGACATAGGAATTAAGATTACTGGACTTGAACTTTTTTGTA ACTAACAACTTTATTGAGATATAATTCGGGTACCAACTCATACCTGAACA GCTTTTTAGACTTTTTTTCTAGCCCTTTTTTCTCTGTCCTTTCGGTTTTC TTTTAAAAAGGTCCATACTATTCAAGAAACACAACTTTTAAAGTCCACAA TAATTCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 homoSapiens_chm13v2.hp1 HG00099.hp1 HG00140.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0002 a0001c0002t0003 a0001c0004t0002	a0001c0002t0003g0017 a0001c0004t0002g0144 a0001c0002t0003g0017 a0001c0004t0002g0144	3	358	0.0084	-1658	c.-28 others(11): Show c.-2804_-1147del	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding		2632		chr18	TogoVar
BDH1_chr3_197504783_197560968	197517201	CCATCAGT others(1650): Show CCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCC CCGCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCCCTCAGGCCGA CCCCCGCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCCCTCAGGC CGACCCCATCAGTCACTTCCTGCTGTATGTCTCCATCCCCTCCTCAGGCT GACCCCCCCACCCCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCC TCAGGCCGACCCCCTCATCAGTCATTTCCTGCTCTATGGTCTCAATCCCC CTTCAGGCCGACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCC CCCTTCAGGCCGACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCAT CCCCCCTCAGGCCGACCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTC CATCCCCCTTCAGGCCGACCCCCCCATCAGTCACTTCCTGCTCTATGGTC TCCATCCCCCCTCAGGCCAACCCCCTCATCAGTCATTTCCTGCTCTATGG TCTCCATCCCCCTTCAGGCCGACCCCCCCATCAGTCACTTCCTGCTCTAT GGTCTCCATCTCCCCCTCAGGCTGACCCCCCCAATCAGTCACTTCCTGCT CTATGGTCTCCATCTCCCCCTCAGGCTGACCCCCCCCATCAGTCACTTCC TGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCCCCCCCAATCAGTCA CTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCCCCCCAATCA GTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCCCCCCC ATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCTCATCAGGCTGACCCC CCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGA CCGCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAG GCTGACCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCC TCAGGCTGACCCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCT CCCCTCAGGCCGACCCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCC ATCCCCCCTCAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATGGAC TCCATCCCCCCCTCAGGCCGACCTCCCCGATCAGTCACTTCCTGCTCTAT GGTCTCCATCTCCCCCTCAGGCTGACCCCCCCGATCAGTCACTTCCTGCT CTATGGTCTCCATCCCCCCCTCAGGCCGACCCCCCCGATCAGTCACTTCC TGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCCCCCCAATCAGTCAC TTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCCCCCCATCAGT CACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCTGACCCCCCCCATC AGTCACTTCCTGCTCTATGGACTCCATCCCCCCTCAGGCCGACCCCCCCC CATCAGTCACTTCCTGCTCTATGGACTCCATCCCCTCCTCAGGCCGACCC CCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCTCCTCAGGCCG ACCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0298 a0001c0002t0072g0298	1	319	0.0031	-1657	c.409 others(17): Show c.409+3782_410-2786del	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
CNST_chr1_246561456_246673595	246576265	TTCTCAGT others(1650): Show TTCTCAGTAATTGGTGGTGGGAGAGTTGGATCCTCACGTGCCTATGATAA CCGTGCAGTCACAGTGTATACCGTATTCCACTAGTGAACAAAACTTTAAT TTTTACAGAGCAGCATCGTGTTCAGTGACTATTATTTTAACTTTATTGAT TTTTTTTGCATGTCATAATTCGTAAATTTGTTTTGGTTTAATTGTGTTAG AGTTAGAAGCACATAAAAATTATGTTTTTACATCCTTTTTTTTTTTTCTG AGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTC CACTCACTGGAACCTCTGCCTCCCAGGTTCAAGTGACTCTCCTGCCTCAG CCTCTTTAGTAGCTGGGACCGCAGGCATGTTACCACGCGCGGCACATTTT TGTATTTTTAATAGAGACGGGATTTTTCCATATTGGCCAGGTTGGTCTCT AACTCCTGACCTCAGGTGATCCACCCCCCTCAGCCTTCCAAAGTGCTGGG GTTACAGGCGTGAGCCACCGCACCCAGCCACAAATTATATTTCTTAATTC TTTTTATCCTATTACCCCTTCCCTTGGCTACCACCCCCTACCCTCCACCC ACATCCACAGTGCTTTAAGATAAAGGAGATTAATTTCGCCTGTAGGAATC CATGGGAACTTGGCCTTCAGACTTCAGGCAAGCACCAGAGTGGAAACATT TGGAAGTCTCATTCTAACATGTTTTTACCTTAAAATTTTTTAAAAATTGG ATTAGGTTTTTATGTTTTTAGAACCATCTTGCCCTCCCTTTTCTAGCTTT TGACGGGACATTGCCAAATTAATAGGCTGTTTTGAAGATTACTAAGATGG GCATCTTTCATTTCAGTAGGGAAAAGAACATGTGCTAAAGGAATTATTCA GGTGAAAATGCTTTTGTGATTAAAAATGTTCTTCAGAACTGATACTTCTC ATGAAGTAAATTTCAACAGTACAAGCAAACCCTGTTTTCCTGTTGTTATG ACTTTGTTGTTCTCACCTGTCCTCCATACCGCCCCACCACAGCGTCACTC CCTTTATAGCCTCTTCCTACTGGTACCTCCTTATTCCGGTTCTCTTTCTA GACCCTCTACTATCCTCTGTGTTTATTTTGAACTGAACTTTGGATTAAAG TACTACCTTTTTGTAGCTGTTACTCAAAGTTTGTCTTCACTTGTGCTTGG AATTTGAGGTTACTCTACTGTTGTTCAGACTTTACCTTTAAAATTCCAGG AGCATCCTGTTAGTAAAACAATGAGTTTTAAAAATTTCGGTAAAGGTGGT CATAATTCTTACAGGAACCAGTTTTATCCCATTTAGTTCACAGATTTTCA TTTTGCCTTTTTAATGGGCATAGAATTCTCTTTCATGTTTTTCTGTAGCC GAGAAACCTAGTCAAGAATGTGAGGTGAACCTTTCAAGTAAAATTGTAGT TGAAGAAACAAAAGTGGAAAGGCTAGGTTAAAATAAATTTGACCCTGGCC TAATTCCATTTATCTCATACCCACTTTAGAAAAGAACTAAAACAGTCTGT GCATGGTGGCTCACACCTATCATTTCTTTGCGTTTTTACTAATTCATGCT TCTTTTTTGGACTTTGCTGACTCGTCCCTGTATTAATCTTTCACTGACAA AAATATCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0044 a0003c0003t0001g0044	1	320	0.0031	-1657	c.-52 others(18): Show c.-52+9606_-52+11262del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
GARNL3_chr9_127259774_127398660	127270879	TTGGCCAC others(1650): Show TTGGCCACCGTGGTCTCTTCATTCTTGGATCCTAATTTCAAATTCCAAAT AGAATACTATGGATTGTTTCCTCTTTGTTCAGGTATCTATCCCTGATTCA AACACTTGTGCTCAGGGTAGTGGGGTCATAGACTATAAACCTGGCTTTTG AGGCCCATCCCCTCAGCAATGCTTGTGGACAGGGCAGATTTTCTCTGGAG ATGATATAGACAAGTCAGTTTCAAAGAAGGGCATGAGCTGAGCTGGAACT CCCAAATGTGTCCATTAACATTCCTTCATATAGCGAGAATTTAAAAGCTC AAACTAAAAGCACTTAGTGAAAATGTCTTCCTCTGCTGATGGACTCCCTT ATCTCTGTACTTTTTTAAATACCATAAATAAAGATATAGATTATGAACTC CCTAAAAATAGGAATAATGTTTATTTGCCACTGTATCTCTAGAACCAAGC ACAATGCTTAGCATTAGTTACTTAGTAACTATTGATTGAATGAATGAATG ATCCCATTTGGTTGAAATTAGAGAGTGGCCTAACCCATCAAAAATAAATA AAGGAAAGAGAAAACAAGCCTCTTTGATTCCCCCCTCAACCAATATACTT AGGCTCATTAGCTGGCAGTGCATTTCATCAAAAGCATATGCCATTTTTCT TCTTGATGAATTGCAAGTCTTGTCTCTCATGGCAGCATTCTAGGCAAGAC ACAGCTATCACACCATCAACCATTCTTCATCACTTTGTGTTGAAATCTGT CAGAAAAAGCACAAGATTGTTTGTAGCTTTTATTGATCTTTTTTTGGCCT TTAAACTGGATGGCTAGGAAATTGATACAGTATCAGTGATAAATGGTATG GGCACAATATAGACCTCTCCCCTCCCCAGCCCAGCTGCTGACTCTCATAA AACCCCGTATCTTGATACTTCTGGGTAAGTAATGATCTACTGGTGATTTC AAGTCAGGATAAAACAAGGTAGTATATTGTCCATTCCTTTTTAAGCTTGT TTCTTAATGACTCAAACCTGCATTTAGATGAGCCACGTGCATGCTCCCCT GCTATATAGGAAATAAATATATCAGTGCTTCTCTATACAGATAGCATGAT TTCGTTGTCATGAACTCAGGGTAGCCTCAAAGGGTATCTGGCTGTACCGT CTAATAACTATCAAAAGAACGGTTGATGATGAACTTGCTTGGCATCTGCA GATTTTAGCATTTGAGGTTTTGACTGTTTGAGGACTCTTGAAGTCTTGAT ATGTAGTAATTTGTATTTTTGTTCAGGCACAGATTGGATTTATACCTGTG GGACTGTTGTGAAGAAAGATGATGCTTTGCTAATGAGTGATTTAACTGCC TGTCCAGCACCCCTAACACAACTCAGTTTTGTGCTCTACTCAGGGTTAAG TAGGGTTTTTACTTTCAAAGGCACTTTATGGGAGAAATTATATTCTATCT AGTATTACCAAACTGAGAGATTAGTGAGGGTACCAGCATATTTCCCTCAG GAACATCAAAACATCAAGACTTCAGCGTTGTACAGCTAAAATCATAATTT TGACAGATGTTCTTTAAAATTTATCTGGCTTATATCTGTGTCTCACATAG CAGGCCAACTCTTTTTTTTTTTTGAGGAGGAGGAGTCTCACTCTGTTCCC CAGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01109.hp2 others(16): Show HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01884.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 others(15): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0118 a0001c0002t0001g0002 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0045 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0009t0001g0040	19	300	0.0633	-1657	c.144 others(17): Show c.144+5863_144+7519del	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
SCFD1_chr14_30617319_30740850	30727684	AGACTTTT others(1650): Show AGACTTTTCCTCCTTTCTCCTGTTGTTAGTTTTTTACCCAGACCTTGATC CCTGAGTTAGGAGACCATCACATTCGGCAAGAGGACTTACCTGTGGAGCT GACAGCAATGTGAGACTGGCCAGTGCTTTTCCCCTTTGTCCATTCCCAGT CACATGATGTTGAGGTGGATAACTACAAGTTTATAGGACTGTCTTGTCCA CATGTGAGGAAAGATGAAAAAAAAACATTAATTCCAAGCTTAGATAGGTG AAAATAAAAACAGTCCATTCCATCATTCCTCAGACAGTTATATTTAGAGG TATTATCTTCATGTCATGTTTGCAACTGATCCGTCTTCCTGAGCTTGTAA ATGTAATCCATATCCATGTTCTACATGATCAGTCAGAGAAAAAGAAAAAT GTTCAGAAATATGGAGGAAATTGTTATCAGTTCCTGTGTTATTACTCCAC CCCTCCCTTATTTTTCCTGAAGTATCTCTATAATCTGTTTAGTGTTGAGT CCCCCTTTAATTTCATGCCTTTTATGTTTTGACACACATTCCATCATGCA ACTCTGTCTCTCATTACCACTTTGAAAAGTGTTTCAAACATTTGCTCCAA TACTTTGTGTTTGGTAAGGTATATAAGTTAGTCTGTGGTAGATAATGGTT GTTAGCACATTGTTGAACTGCACCTGCAGTAAAGTGAGTTTCTTTATCAA ATGATATATAAGTAGGAGGTCTAAATTGAAATTGTTTCTGCTGCGGCCTC TAATAATGTTAAAGGTGATTCCTGCAGCTAACAGGTATACACATCCAAAT GAGTGTGTATTCTAGACAAGACCTGTTGCTGTCCACGTGGAACCATAGAT AATGGCCACCATAATTCTGTGTGAATGTATGTTTTCACTTCTTTTAGGTA TATACCTAAGAGTGGAATTGTTGCGTCACTTAGTAACTGTAATCATTTGA AGAACTACAGACTGTTTTCCAAAGCAGCTGCACCATTTTACATTCCCCCC AGCAGTGCATGAGGGTTCTCACTTCTCCACTTCATTACTAACACTTGCTT TGTTATCTATATTTTCCTGATGACTTACGAAGTCAAGAATCTTTTCACAT GTGTATTGGCCATTTGTATATCTTTGGAGAAATGTCTGTTTAGATCCTTT GTCCCTTTTTTTTTTTTTTTTTTCCCCCCGAGACGGAGTCTCGTTCTGTC ACCCAGGCTGGAGTGCAGTGGCGCAATTTTGGCTCACTGCAGCCTCTGCC TCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATT ACAGGTGCACACCACCATCATCCACCTTGGCCTCCCAGAGTGTTGGGATT ACAGGCTTGAACCACCACGCCTGGCCCCTTTGTCCATTTGTCCATTTTTA ATTGGGTTATTTTGCCTTTTTATGATTGAGTTGTAAGAATTCTTTATGTA ATATTGATACAAATCCCGTATCAGATACATGATTTCCAGATTTTTTCCCC CATTCTCTGGGTTGTCTTTTCTCTTTTTGTGATGGTGTCTTTTAAAGTGC AAAAGTTTATTTCGGCGAAGTCCAGTGTATCTCTTTTTTTCTTTTGTTGC CTGGGCTTTTCGTGGCATATCTAAGAATCCTTTGCCAAATCTAAGGTCAT AAAGATTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	328	0.0031	-1657	c.183 others(19): Show c.1836+5129_1837-5446del	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805369	TCCCCCCT others(1647): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCC CTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC CTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	314	0.0032	-1654	c.12 others(11): Show c.1204_*2857del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1083		chr2	TogoVar
EPSTI1_chr13_42881388_42997241	42965658	TGAAAATC others(1646): Show TGAAAATCAGCTGGAGTCCCTGTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCGTCTCCCTCTCCCTCGTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CGTCTCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACT GTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGC CTCAGTCTGCCGAATGCCTGCAATTGCAGGCACGCGCCGCCACGCCTGAC TGGTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAG CCCCTAACCGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGAT TGCAGACGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGT GCAGTGGCGTGATCTCGGCTCGCTACAACCTACGCCTCCCAGCCGCCTGC CTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCC GTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGGATGT GAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCATCTCC GCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGC CATCACATTTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTG AAATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTGAGGAGC GCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCG TCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGT GAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTAAGGAGCGTC TCCGCCCGGCAGCCACCCCGGCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCCGCCCGGCC ACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGG ATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAG ATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGG GAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGAA TCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCCCTGAAACATGT GCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTT TGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAAT CCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGT CCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGAC CTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAA ACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAA AAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(237): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0006 a0002c0008 a0003c0004 a0004c0012 a0004c0013 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0050 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0020 a0001c0002t0023 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0031 a0001c0002t0036 a0001c0002t0037 a0001c0002t0046 a0001c0002t0047 a0001c0002t0051 a0001c0002t0053 a0001c0003t0003 a0001c0003t0011 a0001c0005t0008 a0002c0006t0007 a0002c0006t0012 a0002c0006t0019 a0002c0008t0002 a0002c0008t0054 a0003c0004t0006 a0003c0004t0011 a0004c0012t0006 a0004c0013t0006 a0008c0011t0001	a0001c0001t0001g0026 a0001c0001t0002g0191 a0001c0001t0002g0223 others(237): Show a0001c0001t0001g0026 a0001c0001t0002g0191 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0237 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0284 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0299 a0001c0001t0002g0315 a0001c0001t0002g0320 a0001c0001t0002g0345 a0001c0001t0004g0039 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0068 a0001c0001t0004g0073 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0004g0093 a0001c0001t0004g0107 a0001c0001t0004g0124 a0001c0001t0004g0129 a0001c0001t0004g0132 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0146 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0167 a0001c0001t0006g0306 a0001c0001t0006g0329 a0001c0001t0008g0027 a0001c0001t0008g0060 a0001c0001t0008g0080 a0001c0001t0008g0094 a0001c0001t0008g0123 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0008g0165 a0001c0001t0009g0019 a0001c0001t0012g0182 a0001c0001t0012g0207 a0001c0001t0012g0213 a0001c0001t0012g0336 a0001c0001t0012g0337 a0001c0001t0013g0025 a0001c0001t0013g0041 a0001c0001t0013g0096 a0001c0001t0013g0106 a0001c0001t0013g0110 a0001c0001t0013g0118 a0001c0001t0013g0125 a0001c0001t0013g0131 a0001c0001t0013g0135 a0001c0001t0013g0140 a0001c0001t0014g0260 a0001c0001t0014g0282 a0001c0001t0014g0343 a0001c0001t0014g0344 a0001c0001t0015g0194 a0001c0001t0015g0303 a0001c0001t0015g0304 a0001c0001t0015g0322 a0001c0001t0015g0332 a0001c0001t0016g0215 a0001c0001t0016g0340 a0001c0001t0017g0067 a0001c0001t0017g0113 a0001c0001t0017g0120 a0001c0001t0017g0126 a0001c0001t0017g0166 a0001c0001t0018g0005 a0001c0001t0018g0017 a0001c0001t0018g0018 a0001c0001t0018g0030 a0001c0001t0018g0052 a0001c0001t0018g0053 a0001c0001t0019g0281 a0001c0001t0019g0309 a0001c0001t0019g0325 a0001c0001t0019g0346 a0001c0001t0019g0351 a0001c0001t0020g0023 a0001c0001t0020g0065 a0001c0001t0020g0077 a0001c0001t0022g0008 a0001c0001t0022g0010 a0001c0001t0022g0112 a0001c0001t0024g0183 a0001c0001t0024g0209 a0001c0001t0024g0321 a0001c0001t0026g0116 a0001c0001t0028g0312 a0001c0001t0029g0040 a0001c0001t0030g0133 a0001c0001t0032g0014 a0001c0001t0033g0101 a0001c0001t0039g0036 a0001c0001t0040g0143 a0001c0001t0042g0069 a0001c0001t0043g0050 a0001c0001t0044g0066 a0001c0001t0050g0348 a0001c0001t0056g0328 a0001c0001t0058g0204 a0001c0001t0059g0305 a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0074 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0190 a0001c0002t0003g0206 a0001c0002t0003g0212 a0001c0002t0003g0250 a0001c0002t0003g0280 a0001c0002t0003g0289 a0001c0002t0003g0295 a0001c0002t0003g0297 a0001c0002t0003g0301 a0001c0002t0003g0314 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0003g0330 a0001c0002t0003g0338 a0001c0002t0003g0342 a0001c0002t0005g0035 a0001c0002t0005g0038 a0001c0002t0005g0048 a0001c0002t0005g0061 a0001c0002t0005g0064 a0001c0002t0005g0072 a0001c0002t0005g0082 a0001c0002t0005g0097 a0001c0002t0005g0102 a0001c0002t0005g0108 a0001c0002t0005g0127 a0001c0002t0005g0128 a0001c0002t0005g0134 a0001c0002t0006g0188 a0001c0002t0006g0307 a0001c0002t0006g0311 a0001c0002t0006g0313 a0001c0002t0006g0319 a0001c0002t0006g0326 a0001c0002t0007g0205 a0001c0002t0007g0279 a0001c0002t0007g0310 a0001c0002t0007g0327 a0001c0002t0007g0334 a0001c0002t0007g0347 a0001c0002t0008g0161 a0001c0002t0008g0177 a0001c0002t0009g0037 a0001c0002t0009g0045 a0001c0002t0009g0047 a0001c0002t0009g0075 a0001c0002t0009g0099 a0001c0002t0009g0109 a0001c0002t0009g0119 a0001c0002t0009g0121 a0001c0002t0009g0130 a0001c0002t0009g0138 a0001c0002t0010g0193 a0001c0002t0010g0210 a0001c0002t0010g0211 a0001c0002t0010g0214 a0001c0002t0010g0287 a0001c0002t0010g0291 a0001c0002t0010g0318 a0001c0002t0010g0331 a0001c0002t0010g0341 a0001c0002t0011g0015 a0001c0002t0011g0016 a0001c0002t0011g0031 a0001c0002t0011g0071 a0001c0002t0020g0150 a0001c0002t0023g0034 a0001c0002t0023g0090 a0001c0002t0023g0100 a0001c0002t0023g0139 a0001c0002t0025g0285 a0001c0002t0026g0076 a0001c0002t0027g0063 a0001c0002t0027g0137 a0001c0002t0031g0070 a0001c0002t0036g0141 a0001c0002t0037g0092 a0001c0002t0046g0185 a0001c0002t0047g0251 a0001c0002t0051g0283 a0001c0002t0053g0208 a0001c0003t0003g0189 a0001c0003t0003g0192 a0001c0003t0011g0083 a0001c0005t0008g0013 a0002c0006t0007g0201 a0002c0006t0012g0199 a0002c0006t0019g0200 a0002c0008t0002g0216 a0002c0008t0054g0317 a0003c0004t0006g0241 a0003c0004t0006g0333 a0003c0004t0006g0335 a0003c0004t0011g0051 a0004c0012t0006g0302 a0004c0013t0006g0198 a0008c0011t0001g0006	240	352	0.6818	-1653	c.331 others(17): Show c.331+1783_332-1520del	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
PCGF3_chr4_700832_775089	745270	CGGGGGTC others(1646): Show CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG GTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG03041.hp2 others(1): Show HG02055.hp2 HG02572.hp2 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0287 a0001c0001t0004g0291 others(1): Show a0001c0001t0004g0256 a0001c0001t0004g0287 a0001c0001t0004g0291 a0001c0001t0004g0292	4	366	0.0109	-1653	c.462 others(16): Show c.462+587_462+2239del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIC1_chr9_5624107_5781557	5750700	TTAGCACT others(1645): Show TTAGCACTCAGTTTTCCAGTGATGTGGCATGACTTCAGTGCCCTGAGTGT GCTTTCATGACCTGTTTTTTTTGTCACTGATCAGCTGCCTCTTCCTTACT TCTGCCATTCCCTTTTATCAAGTATTAGAGGTAGAGCTCAGAGTTCAGAT GACACATAGATCAATAAAGTTGACCTACTGGAGAAAATACATAGTATCTT TAGACACAAACTGCATGAAAAATAAAGCTTCATTCTAAACTTAACACCTT AAGTTTTTAAAATACATCATTTGTGGCACTTCATAGATTTTTGTAGAATA AAGAATAAATTGTTTTATAGATATTGATCATAGTGTGATCATTTGATAAG ATTTAACTTTGGTTCCCATTATTAGAAACTCTTTGTGTTAGAATCCACTT TTGCAGTAAGATCCCAGCTCCTCCATTACCCACCCACACGTTTCATAAGT ACTCATGAAACACCAAGGTTTGAGGGAGGTAAGGATTCCTTTTAGTGCAA TGGATGATTGACACAGTTATACTCAGGTACATCCTCCTGCTGTGAGTGAC TGCTGAAAAAAGTTGAAAATGCTTTCAAGTTTTATTTCACCACCCAATCA TTACCTTAAGTGTACCATTATTCTGAACTAATTTTACCCATCATAGTGAT CTTTTTGGGGGTCTGGGGGGCAGGGAGACAGAGTCTCACTCTGTTGCCCA GGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCAG GGTTCAGGTGATTCTCCTGCGTCAGCTTCCCGAGTAGCTGGGATTGCCGG CACCTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTT TCACCATGCTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGCAATCTGC CTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCC TGGCCCATAGTGAATTTTATTAATTTATTAAGCTATTGATTTAGTTGGAT TTTAAGTTGACTTAAGTCAACTTAATAAGTATAACAAATAATTAGTAAGT AAAGCACTTGATAATAAGTGAAGTATAACAAACAGTTTTATCAAATTTTA TCAAGGTTAATACAGATGTTTAGAGCATATTGCTTTTACTTAATTTTCTG TCTTCACATTACATACACAATCTTACTGGGTTTGATTGCTGTTGACTTAG CTTTTTAATTTGGCATTTAGTTTTTCAATATGTGACAACTTTTCTTAGAG TAAAATGAAAAATAAATTTGAACAGATCGAAGCTTTTCTTATTCCAAGAA CAGAAGACTCTTTGTTCAGTTCTGTTAATTCTCGCCCCACTCCAACATGT GCTCATGAAAACTAATCAGCAGGCTAGAGAGATCAATCTCATTAAAACGA AAATTTACTTTATCTACATTGATATCCCATGTCAATTATTTAAATTGAAA GGTGTTGTTAGGGTGATACAAAGACACCATGTTCAAAGATGTAAGACAGA CAACGTGGAAAAATGAACGCCTTTTCTTGCAGATAGAGTTAATATTTGTA ATATATTAAAAGTTCTTGTAGATAAGTAAGTCAAATACCCCAATAGAAAA ATAATAGCTTACATACACTCTTTCATGTACATATATATATGTTTGTTTAG AGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0026 a0002c0004t0003g0026	1	328	0.0031	-1652	c.145 others(18): Show c.1453-2496_1453-845del	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
BRSK2_chr11_1384934_1467689	1431430	GTCTTCTG others(1644): Show GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0324 a0001c0001t0077g0324	1	360	0.0028	-1651	c.92- others(15): Show c.92-4575_92-2925del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
D2HGDH_chr2_241729630_241773811	241765724	CGGGCTGA others(1644): Show CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CG	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	412	0.0024	-1651	c.130 others(18): Show c.1307-1983_1307-333del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL51_chr12_6486886_6498262	6487759	GCCTCCTG others(1644): Show GCCTCCTGGGTTCACGCCATTCTCGCGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGTGCCCGCCACCATGCCAGGCTAATTTTTTGTATTTTTAGTAC AGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCCCTAAAGGCTAAATTTTAATAATCATTACAATCTTC AGGATCTGACTCTTGCTTCCCATCTCTTTCCCTGTCTTTTACCACAAGCA GTAGCTCCACCAGTAAATACCACTCATAGCTTTCTCATGCACACCATGCT GTTTCTTGACTCTAGGCCTTTATTTCTGCTTCAACTGCCTGGAAAAACTG CTAGCCTCCACTCCCTTAAGACAACTCAGTGGTCACCTCTTCTCTAAAGC CCTTCTCGTCCCCATTCCTGCTTCCTCAGGAAAAGATAGGTGTCTCTTCC TCTCCACACCTATACACATAGCTATTAACAAACTTTAAATGTCATGACAT ACTGGATTTCATAACTATGCTTCTTCATCTGCCTCTTGCACTGGGTGGAA TTCTTTTTTCCTTTTTTTTTTTTTTAAAGGCAGGATCTTGCTATGTTGCC CAGGCTAGAATGTAGTGGCCTGATCTCAGCTCACTGCCACCTCCACCTGC TGGGCTCAAGCCATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGAATTACA GGCATGTGCCATCATGCCCAGCTAATTTGTTTTTTGTATTTTTTTAGTAG AGATGGGGTTTCACCACTTTGGCCAAGCTGGTCTTGAACTCCTGACCTCA AGTGATCTGCTCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAG CCACTGCTCCTGGCCTCAAGAGCTCATTCTAATGCCATCTTTTCAACAAA TACCTTTTCTGATCATCCCCCTCAGCAAAAAAAAAAAAGAAAAAAAAAAC CTGTCATGGGACTCGCTTTCATTATCATATTTAAATTTACATTTTGTTTA CATACACATCTCTTCTTTTTTTCTTTTTTCCAGTCTTACCCCTGTATAAA CTGGATGAAGCTGCTGCCAATTTAACCAAGTGGGAATCCCAGTGCTAATT GTCTGCTGGATGGGATATCTTTATTGGAGCAGATTAACATAGCCTCACAT TTGTGGTTTGTGACCACTGATTTAGCAAATACATTGTTTTTCTTTTTTCT TTTTCTTTTTCTTTTGAGACAGGGTCTTGCTTTGTTGCCTAGGCTGAAGT GCAGTGTCACAAGCTCAGCTCACTGCAGCCTCGACCCCCAAGGCTCAAGC AATCCTTCCACCCAGCCTCCACAGCAGCTGGGACTACAGGCACATGCCAC CAACGCCTGGCTAATTTTTTTTTTTTTTTTTTGTGGAGACAGCATTTCAC CATGTTGCCCAGGCTGATCTCGAATTCCTGGGCTCAGCTGATCCTCTCGC CTCAACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCTGGC GAACATCCTTTTCTTTTTTGTTTTTTTCCTTTGAGACAGAGTTTCGCTCT TGGTGCCCAGGCTGGAGTACAATGGCACGATCTTGGCTCACTGCAACCTC CA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	436	0.0023	-1651	c.28 others(11): Show c.2861_*4511del	MRPL51	ENSG00000111639.8	transcript	ENST00000229238.5	protein_coding		4126		chr12	TogoVar
NOX5_chr15_69009695_69067762	69023704	TGCTGTAT others(1644): Show TGCTGTATAATAATCCTAATCTTGTTAGGATTAAAGACAAAGGTGGACAC CTTCATCATCATGATGTTTTCCCTCATGATGGTGACTTATTTAGCACTGG CCATAGCAGCAGGTCAGTGTGGTTTCCATAGCAATGCTTCTCCTGACCAT CTCTTTTGTATTTATAATGGTTTTTTCAGGTCTATTAGTAAATCTCGCAA CCATTGCATCTTGGCTGTTATGGTTTAAGTACTTCAGCATTCCAGTTTTA CAGCTTTGCTGCCTAACGAATTTTTGGAACAAAACTTCTGCCCAGGACTC CGTGAAATAGTAAACAATACTGTGGCTCCCCAATATGTACTGGCAAGGAA TATTTGATAAACCAGCCATCAATGTCTTACCCTGGGGCTTGTGGAAGAAT CATATAACCGTGGCTTGTATGGTTATCTTCCTGATTTGCCTACCTAAAAT TGTTATTTCTTTTAAAATATTCTTACATTTCCCTTTAATTTACTATGATG TGTCCTCACATAAAAAATGAGACCATAATTTTTAAAAAATAAAAAGGAAA AGAATAATTTGATGAGTGTCGAGAGACAGTACAGCCCTGTTACACATGGT TTCACTTTCTATGGTTTGTTGCCCATGGTCAACCAAGGTCAAAAATACCC AATGAAAAATTCTAGAATCAACAGTTCATAGGTTTTAAATTGCAGCCATT CTGAGTAGCCTGATGAAATCTTGAGCCTTTCTGCTCTGTCCCACCTTGGT TCAGTGAATCCACACTATACACGCTGCCCATCCCTCAGTCACTTAGTCGC TGTCTCGGTTATCAGATCCACAGATCTCAAGAAGAAGAAGGGTTAGTACA GTAAAACCACATATTTTCAGAGAGACCACATTTACTTAACTTGTATTACA GTATATTGTTATATATTGTTATAATTGTTCTATTTTATTACTAGTTATTG TTAATTTCTTACTGTAGCTAATTTACAAATTAAACTTTATCATAAGTATG TATTATATAGGAAACACATAGTCTATATAGGGTTTGCTACTATTTGCAGT TTCAGGCATCCACTAAGGGGCTTAAAAAGTATCCCCCCACAGATAAGGGA GAAGTATTATATGCATACATCTGTAAAACCATTTCCATAATTGAAATAAA TGTATCATTTTGACTTTTTTTGGTTTTCTAATACCTTAATTTCTGACTTT ATATTTAGTAGTATGTACTTACATGTGTGTGATATGTATTTCATTCTTTG TCTAGTTGCTTATGTGAAAACTATTACATTTATTTTTAATATTTATTTAG TCTTTAAAAATAAAATCAATTCTCATTTATGTTCTATAAAGTCACTGCAA ACGCTGAATTAGCGAATTCAGAACCATTGTTCTTAGAAGGAAATATAGAG TTAGGCTCATGTGAGCCTCAGGGCACAATATTTTTGTCAAACGATCAATA AGTTGCCTTGTTTTATGTGTGTTTCTATTTAAAGACACCTTTAAAATATG TATTGTTGATTCGTTGACATTGAACTCATGGCCAACAGCACTGTCACTTG TTCCTGAATGAAGCTTTCCTAACACGTATTTCCTCCATACTGCACAGTAC AGCCTTTGCTCGCTTAGAAATGCTAGAGAGCACCGCAACATTATGGTTGG GA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG01891.hp1 HG03209.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0303 a0008c0011t0002g0304 a0008c0011t0002g0303 a0008c0011t0002g0304	2	396	0.0051	-1651	c.51- others(15): Show c.51-2821_51-1171del	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
P2RX5_chr17_3668227_3701155	3686279	GGGGCCCC others(1644): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGG AGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGG GGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAA CAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGC CCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAG GAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAG CCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCT GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC ACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAG CT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG00733.hp1 HG02896.hp1 HG02897.hp2 NA18964.hp1 NA18971.hp2 NA18974.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0047 a0001c0005t0001g0101 a0002c0002t0001g0005 others(2): Show a0001c0001t0001g0047 a0001c0005t0001g0101 a0002c0002t0001g0005 a0002c0002t0001g0103 a0003c0004t0001g0325	6	362	0.0166	-1651	c.981 others(15): Show c.981+82_981+1732del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
D2HGDH_chr2_241729630_241773811	241765455	CTTGGGGA others(1643): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18967.hp2 HG00621.hp2 NA18967.hp2	a0002 a0017 a0002 a0017	a0002c0002 a0017c0028 a0002c0002 a0017c0028	a0002c0002t0004 a0017c0028t0004 a0002c0002t0004 a0017c0028t0004	a0002c0002t0004g0042 a0017c0028t0004g0109 a0002c0002t0004g0042 a0017c0028t0004g0109	2	412	0.0049	-1650	c.130 others(18): Show c.1307-2224_1307-575del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCGF3_chr4_700832_775089	744955	TCCGTGGA others(1643): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC G	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	366	0.0027	-1650	c.462 others(16): Show c.462+324_462+1973del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDCD1_chr2_241844884_241863894	241846805	TGCTGGCG others(1643): Show TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA TGCTAGCGCCCTGCGCTGTCAATGGATGAATGAGAGCCGTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTATGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGACAATGGATGAATGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCCGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA CGCTGGTGCGCAGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGTGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA CGCTGGCGCGCTGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGTGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA CGCTGGCGCGCTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTATGAGAGCCTTGAGTTCTGGA TGCTGGTGCGCTGCGCTGTCAATGGATGAATGAGAGCCGTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA TGCTAGCGCGCTGCGCTGTCAATGGATGAATGAGAGCCGTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTATGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGACAATGGATGAATGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCCGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0012 a0001c0002t0005g0012	1	407	0.0025	-1650	c.26 others(11): Show c.2603_*4252del	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		3078		chr2	TogoVar
PCGF3_chr4_700832_775089	744874	GGGGTCGC others(1642): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	366	0.0027	-1649	c.462 others(16): Show c.462+190_462+1838del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(1642): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18994.hp2 HG03041.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0032 a0001c0001t0001 a0001c0003t0032	a0001c0001t0001g0297 a0001c0003t0032g0095 a0001c0001t0001g0297 a0001c0003t0032g0095	2	366	0.0055	-1649	c.462 others(16): Show c.462+299_462+1947del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
ASMT_chrX_1610059_1648081	1639725	GTGTCCCA others(1641): Show GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG ATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCAC AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG ATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01071.hp2 HG01993.hp1 others(10): Show HG00323.hp2 HG01071.hp2 HG01993.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG06807.hp2 NA18906.hp1 NA18968.hp1 NA18974.hp1 NA19072.hp2 NA19080.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0010c0015t0002	a0001c0001t0001g0046 a0001c0001t0001g0067 a0001c0001t0002g0140 others(10): Show a0001c0001t0001g0046 a0001c0001t0001g0067 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0003t0001g0022 a0002c0002t0001g0009 a0002c0002t0001g0054 a0002c0002t0001g0108 a0002c0002t0001g0189 a0002c0002t0001g0210 a0002c0002t0002g0186 a0010c0015t0002g0179	13	223	0.0583	-1648	c.911 others(17): Show c.911-3058_911-1411del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
DLGAP2_chr8_732628_1713476	1404191	ATCCTCCT others(1641): Show ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATC GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTA CTAACTGAGCGCTCCCACCTTGTCCTCCAGAGTCGCGTAACTCAGCGCTT ACTGAGCGCCACCTCCTTGCCCTCCAGAGTCGTGTATTGAGTGCGCACTG AGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	-1648	c.107 others(19): Show c.107-97138_107-95491del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
LINGO2_chr9_27932617_29218601	28077561	AAACTATT others(1640): Show AAACTATTATCTTATTTTTTTCATAGAGATAACAAAAACTCTCAGGCTAT GAAGGCAATTGCAATGCAAGTATGCTATTTAATTACTTGGGGAAGAGTAG TTTCATTAAAATGTCAGCTAAATTGAGTAGAAAAGATGCAAAAAAATAAA AACCAAAACCCACTCCAATGTTATCTAGAGATTTTTCAATGGTTTTACTT TATTATTTGATATGGTTGTAAAAAAAGAAAGAGAAGAAAGAAGAAAGAAG TAGAAAAGAAAGATAAGAAAAGGAAGAATCCTCAATCTAATAACCTCATG CTCAATTTTCAGTTACTTGTCTTTGTGAAAATGAACCTACTCTACTGCTT CTTTGAAGGAAAAGAGCAGGCCTGATTTCATGATTAAGCGTCAACTCTAG AGAATGATGTGGTTGTAATCTGTCTGCCATATGTGTTATGGTTAAGTGGT GGTTTAACATATCTTTTTTTGTAAAACTTAAAGCTTAACAAATAAACAAA TAAATAATGGCTCTTGCCTTAAAATATGCTGGTAATGTATTGACAGAGAA AAACATAACCCTTTTACTCCTATTTATATTCCATCATTTCTGCCAGTGAG AAGGATGGTCAGGCTAGTAAGAGGAGCAGATATTTGCGAGAGGAAATTGA AGCCCAACAAGATGAGTTAACACTCAGGAAGTGTGTGTCTCCTGCCCAGA TAGAACTGCAGGCATGCAGGGCAACTGAGAGGATGTGCAGTTTAGTTTGC AGAGTTGCTACCAGCAATGTTTGAGGAATATGGAGAGCAGAATAGGTATT AAAGGACTGATTAGGACAATATGATGATGAAAAAAACTTTAGAGAACTTA AAGAAATGTCTAAATCTGATTTTTAAATAGACTATTTTTTTTTAGGATTT GTGAGCACATGGAAAAAGAATAGTGATCCTAGGAGCTACCATATATGCCT TATTGACAAATTATGTTATATTGACCTTGCTTTATTTTGGGTTAAGATCT CTAGACTCTGCCGGGCGTGGTGGCTCATGCCCGTAATCCCAGCACTTTGG GAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTA ACATGGAGAAACGCCGTCTCTATTAAAAATACAAAATTAGCTGGGTGTGG TAGTACATGCCTGTATAATCCCAGCTACTCAGGAGGCTGGGGCAGGAGAA CCGCCTGAACCTGGGAGGCAGAGGTGGCAGTGAGCCAAGATCGCGCCATT GCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCAAAAAAAAAAAAAA TCTATAGACTCTTCTACTGAAATCTTATAGGCCAAGTGGGAGCACATTTC AGCAAGACAGTTTGTAGAAAATAATGAAGATAAAGATGAAAATATGGGTG CAATGCCTTTACAGTTTGATATATACATAACTGGTGGTACCCAAAGAGAG GTGTGATGTCTAACACGAGGGAGCTCCCTGGTAAAATGGTCCTCCTCTGA TTAAATTCTTTAAATTAAGATTTAAGTGAAGATATATTTGTTAAATTTGC AGGTGACAAGAAACTTGAAATACTACTATTAGGCTTTAAAGCAGGATCAG GTTTTAACACAATCCCAACTGCCTAAAAAGATGAAATTTAATATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02897.hp2 HG03139.hp1 others(3): Show HG02630.hp2 HG02897.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 others(3): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031	a0001c0001t0009g0056 a0001c0001t0011g0002 a0001c0001t0021g0051 others(3): Show a0001c0001t0009g0056 a0001c0001t0011g0002 a0001c0001t0021g0051 a0001c0001t0024g0027 a0001c0001t0025g0055 a0001c0001t0031g0021	6	62	0.0968	-1647	c.-35 others(21): Show c.-35-128502_-35-126856del	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
ME3_chr11_86436108_86677616	86621325	ATGGGATT others(1640): Show ATGGGATTTAAGAATAATTAAGGTCAGCTACATCATAGTTTTTAAACTTT TTTGCTCCTCAGTCTTGGCTAATTTGTTAGCATGATTCTCAGAATTCTTA AACAAAAATGCAGAACTTTGAATTATTTACAATTGGCCTGAGAATGTCTC TTGAGTAATCATCAGGCCAGGACTGGTTCCATCACTTCAGAAAGTTTTTT TTCTAAAGTTAAATCAGGAGTCTTTCTTTTCTTTCTCTCCTTCCATTCTT TTTCTTTCCTTCCTTTCTCTTTCTTTCCTACAAATGCTTCAACTTTGAAC TTGTTTTTGTGAATAGGGTTGTATTCAAATTCAAGCTGACTTAAAATATA AGTTTAAGGCAAAGTTAGTCTAACTTCAGCATAATTTGATAATAAAGATC TAGTGGGCTTTCAGGAGAAATAACATTCAAATCATAATTACAATCGAGGT TGGAATAATGGGGAGAGGGAAGGTCTGAGGAGATTTGAAATAAATCAAAA TATAAAACAATGTGTTAAATGCACTTTTATATAAATGAAAATGAACCCTG TAAAGCAGAATGTGAAATTACTTTTTCCTTTAAGAGAGTTATTTTTAGAG CTTACAGGAGCTTTATGGATTATCTCTAGTCCAGAGATAACAGGAAAGTT TCAACTTCCAGCATTGTTAATGGGCGCCTAGGGCTCTATGTTAAATATTG TATTGGGTAGCCTCATCAGGCCTCAGCGAGGAGTGTCATGATTGATTAAT GATGTTTGCCATGGCCAGGTGAGAATGTAGGTGGTGCAGGACTTGTGGAA GAATATGTGTGGAAGGATGCGTTCCAGATACCTTTCATGGATCCAGTCTA ACCTACAACCTTGACAGCAGTAAAATCTTAGACTGCAGAGAAATTGTCTG CCAATAGTCACATGGATAGGTTGTGCCAGAGCTAAAACAAAAGCTCTGCA TGTGGGTTCTCATTTTACGCCTCCCTATCAATGGGAGTCATTTAAAAATG CATTACATACTACAGACACTGCCATATCCAGTGATATATCTACAGGGATT GTGGGAGGGCATTAAAAAAAAAAAAGTTGTTTGCTGCTCACTCAGTGCTC TCTTGAGATGAGAATACCTAATAGTGTCTGTTAGAACAGGTGGCTTTCTG GTAGATCTGATAGATTACTGATTCAGTCAAAGGTGAGGCCTCAGCAACTA TATTTTTATCAAGAGCTCAGAAGGTCTGTGGACCACAACTGAAAAACACT GAGACAATATCTCGTTTCTTCCTGAAAGTTGTGTTCCCTGGTTTTCCCAC TTCACACTGTTCTTTGTACCACCTCTTCTGTCTATGGGTCTCTTTCTCCT GTGTATATTTTTTGATGTTTTCTTGTTTCTTCTCCCACTTTTTGGTGCAG CTTCTCTTATTCCTGACTCTGGCTGCCATCGTTGGCTGATGAAAGAGTTC CTTTTATTTGGTGAGTTCATCCATCAAGATTGTCTTCGAAGCTTTGTCTT TGAAGTTTTCACCTATTCCCAACCACTCCCCCTGGAAGCTTGTTTCCTGC ACTGTTAAGAGCATGGACCCTGAAGGCGGACTACCTGGATTCAAACCCTA CCTCCACCTCTTATTGGGAGAATGACCTTGTGTAAATGACATCACTTC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0046 a0001c0006t0001g0046	1	320	0.0031	-1647	c.183 others(19): Show c.183+48790_183+50436del	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ZNF516_chr18_76352682_76500242	76392959	CAGGTGGT others(1640): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0038 a0005c0008t0038	a0005c0008t0038g0327 a0005c0008t0038g0327	1	346	0.0029	-1647	c.181 others(21): Show c.1811-14303_1811-12657del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
SCCPDH_chr1_246719409_246773137	246771491	GCCCCAAA others(1639): Show GCCCCAAATCCTGCAGTTGATAAGTGATGGACTTAACCAGGATTTAACCC TCGGCAGTCTGATCCCCGAGCTCCGAGTGCTAATCGTTCACCCTCTCCCT CCTCCCACCCTCCAACCTCAAAGAGACCCCAGTGTGTGTGGCTCCCCCTA CGCGTCAGGAACATAGGGCCATTCAAGCAGCCTTTAGGTTATAGAGATGA TTTACAGTCACATGGAAGGAGAGTTTTGCTTAAAACTGGTAGAAGAAATA GGTAAAGTAAGTGGGAAATGAGGTAAGCTTGCTAGCTACACAAATCATCT TCACAACTCGAAGCTCAAATACCCTCAGTGTTCAGCTGGTGTGTCTTCAC TATTTGATGTGCAGTAAATATTCTCGCTTCTTTTTCACTATAAGAGCAAC GTCATTTTCAGTGTCCACAAGCTGGATTCACGTAGATCCCCCAAATCCTT AAACATCTGTGACCGTTGGTGTATAAACGGTCGAAGCATTTGATCAACTT CCTAAAAAAAAAGTGAAAAAAATTATAGTGATAGATTTCATGTCATCAGT AAAAAATGTGTGTGTATGAGTGGGGTGCCCACTAAGTTCCCCTTTGGGAT AGAAAACTGCTTTTGAAAGCTGCTAGCAGAGGCAGTAAGTCACCTAGGAG CAGTTTTGTTTCGGATGACCCTAAGTTACTGCCAGTAGGGAAAACTGGTG AGATAAGTCAAATATTTTCCACTGGAATGTTACTTCCTTAGTGTTTTAAT ACTGTCGAAGGAGTATTAAAGGAGTCTTGAGGGGCCAGTGGGTGTAGGGG CTCTCCCATTGGTAGGGTTTTGCCGATGCTTCCCCTAACCTGTGGAGGCA AGTACCCCTGAGAACTAGGGATGCCCTGGGGCAGAGTCCTGGAGACAAGT GTTGGAGGAGATGGTACCGCACTGGCTGAAAATGGGAACGGCAGAGAGCA GGTAGTGTGACGTGATGGAGGAGATGGTACCGCACTCACTGAAAATGGGA ACAGCAGAGAGCAGGTAGTGTGACGTGATGGAGGAGATGGTACCGCACTC ACTGAAAATGGGAACAGCAGAGAGTGGCACTGGGATTCAGTTTCTATTTC CCTGAGTATTAGTGAAATGCCTGTTCAAATCCTTTGCCGATTTTTTTCGA ATGTGCTTTCCAACATATTATCTTTTTTTAAATCTTAAAAGTAATAGTTT ATTCTGAATACTAATGCTTGCTAAATAATATTAATATATTTTCCAGGCTG TGGTTTATTTGAAACTTTGTTTAAGGTGTCTTTCATTTAACCAGTTATTC TTTTTTATTGTGAGCTACGTAGAACAGAAAAGTACCCTAAATATATTGAC AGGCCTAAAGTGAACACACCTGCTCTAGAGAGCCCACTGCCTGGAACTCC TCCTGTCACCTTCTTCCTGTCCCAGAAGCAACTGCCAGCCTGACTTGTGT GGTCACCATTTTCTTGCCTTTCTCAATAGTTTTGCCACCTAGAGTATATC CCTAAACAGTATATTTTGCCCTCTTTGAATGTTTATAGAATCATGTTGGA TGTCATCTTTCGTAACTTGGTTTCCATCACTATTGGAAGACTCTTCTTGT TGCCTGTGGCTGTTGTTCACTTTCATGGCAATGTAGTGTTACACAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0241 a0001c0002t0004g0241	1	410	0.0024	-1646	c.41 others(11): Show c.4192_*5837del	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding		3355		chr1	TogoVar
TRIP13_chr5_887884_923120	898206	GTCAGTGT others(1639): Show GTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAG GTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCA GTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCA GGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTC TGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGT GGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGT GTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGG GCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTG GCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGG ATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGT GTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGC TTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGC AGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGAT TTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGT GGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTT CATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAG GCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTT GGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGG GGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCA TGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGC CAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGG ATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGG AAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG CAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCA AGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGAT GGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAA ACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02572.hp1 others(6): Show HG01884.hp1 HG02257.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG02896.hp1 HG02976.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0149 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0149	9	402	0.0224	-1646	c.388 others(16): Show c.388+1517_389-538del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
COQ8A_chr1_226935294_226992544	226955357	TCACTCTC others(1638): Show TCACTCTCCCTGGCTCCCACTCTCCCTGGCTCCCACTCTCCCTGGCTGCC ACTCTCCCTGGCTGCCACTCTCCCTGGTTCACACTCTCCTTGGCTGCCAC TCTCCCTGGCTCCTACTCTCCCTGGCTGCCACTCTCTCTGGCTGCCACTC CCTGGTTCACACTCTCCCTGGCTCCCACTCTCCCTGGTTCACACTCTCCC TGGCTCCCACTCCCTGGGTTCACACTCTCCCTGGCTGTCACTCCCTGGTT CACACTCTCCCTGGCTCCCATTCTCCCTGGCTCCCACTCTCCCTGGTTCC CATTCTCCCTGGTTCCCGCTCTCCCTGGCTCCCACTCTCCCTGGCTCCCA CTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCCCTGGTTCACACTCT CCCTGGCTCCCACTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCCCT GGTTCACACTCTCCCTGGCTCCCACTCCCTGGTTCACACTCTCCCTGGCT CTCACTCTCCCTGGTTCACACTCTCCCTGGCTGCCACTCTCCCTGGCTGC CACTCCCTGGTTCACACTCTCCCTGGTTCCCATTCTCCCTGGTTCCCGCT CTCCCTGATTCACACTCTCCCTGGCTGCCACTCCCTGGTTCACACTCTCC CTGGCTCCCACTCTCCCTGGTTCACACTCTCCCTGGCTCTCACTCTCCCT GGCTCCCACTCTCCCTGGTTCCCACTCTCCCTGGTTCACACTCTCCCTGG CTCTCACTCTCCCTGGTTCACACTCTCCCTGGTTCCCATTCTCCCTGGTT CACACTCTCCCTGGTTCCCGCTCTCCCTGATTCACACTCTCCCTGGCTGC CACTCTCCCTGGCTGCCACTCCCTGGTTCACACTCTCCCTGGCTCCCACT CTCCCTGGTTCACACTCTCCCTGGCTTCCACTCTCCCTGGTTCACACTCT CCCTGGCTCTCACTCTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCC CTGGTTCCCACTCTCCGTGGTTCACACTCTCCCTGGTTCCCATTCTCCCT GGTTCCCGCTCTCCCTGATTCACACTCTCCCTGGCTGCCACTCTCCCTGG CTGCCACTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCCCTGGTTCA CACTCTCCCTGGCTCCCACTCCCTGGTTCACACTCTCCCTGGCTCCCACT CTCCCTGGTTCACACTCTCCCTGGCTCCCACTCCCTGGTTCACACTCTCC CTGGCTCTCACTCTCCCTGGTTCACACTCTCCCTGGCTGCCACTCTCCCT GGCTGCCACTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCCCTGGTT CACACTCTCCCTGGCTGCCACTCCCTGGTTCACACTCTCCCTGGCTGCCA CTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCCCTCGTTCACACTCT CCCTGGCTGCCACTCCCTGGTTCACACTCTCCCTGGCTCTCACTCTCCCT GGTTCACACTCTCCCTGGCTCCCACTCTCCCTGGTTCACACTCTCCCTGG CTCCCACTCCCTGGTTCACACTCTCCCTGGCTCTCACTCTCCCTGGTTCA CACTCTCCCTGGCTGCCACTCTCCCTGGCTGCCACTCCCTGGTTCA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01934.hp2 HG02027.hp1 others(6): Show HG00609.hp2 HG01934.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02165.hp2 HG03834.hp2 NA18948.hp1 NA18970.hp2	a0002 a0003 a0002 a0003	a0002c0009 a0003c0005 a0002c0009 a0003c0005	a0002c0009t0009 a0003c0005t0005 a0002c0009t0009 a0003c0005t0005	a0002c0009t0009g0028 a0003c0005t0005g0370 a0003c0005t0005g0371 others(5): Show a0002c0009t0009g0028 a0003c0005t0005g0370 a0003c0005t0005g0371 a0003c0005t0005g0373 a0003c0005t0005g0374 a0003c0005t0005g0375 a0003c0005t0005g0376 a0003c0005t0005g0377	9	412	0.0218	-1645	c.-9- others(15): Show c.-9-6005_-9-4361del	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCMH1_chr1_41022202_41247306	41105891	TTGAGACA others(1638): Show TTGAGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGCACGAT CTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCTAGTAGCTGTGATTACAGGTGCACGCCACCATGCCCAGCTA ATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAACTTGGCCAGGCTGG TCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAAGTGTGAGCCACCACGCCCAGCCAATAGTTCTTGATTTA GTTTGGATATTTTGTCCCTGCCCAAATCTCACGTCAAACTGTAAGCCCCA GCGTTGGAGGTGGGGCCTGGTGGGAGGTGTTTGGGTCATGGGGGTGGATT CCTCAGGGTGTGGTTCTGTCCTTGAGATAGTGAGTGAGTTCTGGTTGTTG TAAAAGTGTGACACCCCCCTCCCCACACTGCCATCTGCCTGCTCCAGCTT TGCCTTCTACCATGAGTAAAAGCTCCCTGAGGCCTCCCCAGAAGCCAAGC TATGCAGCACCGTGTTTATACAGCCTGCAGAACTCTAAGCCAATTAAACC TTTTTTCTTTATAAATTACCCAGTCTTAGGTATTTCTTTATGGCAATGCA AGAACAGCCTAATACAGTTCTCGATGCTCATAAGGTAAAAATCCAGATCC TTAAGATGGTCTATGAGGGAAGCATTCTGCGCCTTCCTCTGCTGTGCCTT ATCTCTTTCTGCTCCTCTACTTACACCCTACAATCTAGCCATTTTCTTTT TTCCTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGA GTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAA GCGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGACTGCAGACGTCAGC CACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TATTGGTCAGGCTGGTCGCTAACTCTTCACCTTGTGATCCACCCGCCTCT GCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCGGCCTTA ACTATTTTTTAATTCCTTGACCATACTTTTTTTTTTTTTTAACTTCTGGC CCTACACTAATCTGTTTCCACTGCTAGAGAGAATTTTTTCTCTACCTTCC CATTCTTAAGGTTTCAGCTTAGACATCACTTCATTTGGAAGCCTTCGTTT GGAAGTCTTGTCCTTTATTCATCCATTTACCCAATAGCTATAGAGCAGCC CATGTTAGACATGCTAGGCTCAAGGGAGGTTATAGAGATCTCCAACCTCC AGTCCCCTCAATCTAGGTTGGGGTCCCTCTGTACTTTATTCCTCCAAAGT CGTACTTTATTGGTCTATATGTTCACAAAACTGTAAACACTAACGGCAGA ATCTCCATCAACTGAGCCAATGACTAGTACTTAATCATGACTTGATAGTT AGAATTTGAATAAATGGATGGATGAGGAAGATCAGTCTATCAGGTGACCT CATGTTGAGACCTACAAGTTAGCCTTAAGTTGTATTATTCTTGCCTCTAT CCTAGTTTTTCTCTCTGTAGTCTAGGATTACATTTTTTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp2 HG03471.hp2 HG02486.hp1 HG03225.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0002c0002t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0002c0002t0001g0148	3	304	0.0099	-1645	c.745 others(17): Show c.745+5747_745+7391del	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SMAD1_chr4_145476853_145564176	145517654	TTTGGCCA others(1637): Show TTTGGCCATTTTTTTAGTGCTGAATTTTCAGTTTATCTATACCTTTTGAC CATCTTCTTCCCTTCTTTGGTCATTTTATGGCTATTACACCTCTGATACA AGGTGAAAAGTTAAAACCAATACTGAGATGAATTTGTTACTCTTAATAAC ATATGTGCTAATAAAATAATGGGGAAGAGGTGGAAAACTGGCTTACATAG GCATTTTGAGACTCCACAAATGCCATTTCAGCCTCTCCTTTACCCAGGAA TCTTGTGAGTCATGGATAGAATAGAACAGTTCTGGAAAACATGGAGGCTG AGGCTAAGATCTATTTAATTTGAACATATCAAGATTTTATGTATATTTTT CACATTATGAAGTGACTGATGTGGGAATTGGAACAAAGGACTTTTTCCAG AGACCACTATGAAGCAGTCCCTGTACCTTCTGAAGAGAAACTCTACTAAA TCAAAGTGCAAGAGGCAGCCAGATGTGGTGGTACATGCCTGTAGTCTCAG CTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCCAGAGTTGAAGG CTGCAGCACACTATGATCATGCCTGTAAATAGCCATTACGTTCTAGCCTG GGCAGTGTAGTGAGACTCTGTCTCAGAAAAATAAAGTTAAAAAAATGCAG CATAGTAAAACCCCATCTCTACTAAAAATACAAAAATAAGCCTGGCGAGG TGGGGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAAAATC ACTTGAACCTGAGAGGCGCAGGTTGTAGTGAGCCAAGATCATGCCATTGC ACTCCAGCCTGGGGGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATA AAAATGTGCAAGGTGACTTAGCCCCTCACACTGCCAGAATTGAAGCCCTC TATAAAGCCGTACAGAGTACACCTGGGTATTGTTTTTGTGAAATCAGAAA AAGGGGGTCTGGAATTCTAAGCTGCACATATACACAGCTCAACACTGAAT TATTTTGAACTTTGTCACTATTTTACTTCTGATGAAGTATCTCAAAGAAC AGTTTAGCAGTTTAACATATTTAAGTCTCCCAAACTTGGTGACTTCTGCT GAGGTCTCAATGACTCTTGAAAAAAACTCAAAAATTGAGAATATTTAGGT TTAGAGTAGTGGTTTTCAAAGTGTCGTCCACAGAGTAGTAGCATCAGTAC CACCTTGGAACTTGTTAGAAAAGCTAATTATTATTTTTAAATTGACAAAT AATTGTATATATTTGTGGAATACAGTGTTATGTTTTGGTACATGTATACA TTGTGGAATGATCAAATGAGGCTAATTAACATATCTGTCACCTCCCATGT GTATTTGCTTATTTCTTTCTTTTTCTTTTTTTCTCTTTTTTTTACTGCCT ATTCTCTGAACCATTTTTTTGTTTGTTTGGTTGGCTTTTTTTTTTTTTTT TTTTTTTTTTGAGGTAGAGTCTCGCTCTGTTGACCAGGCTGGAGTGCAGT GGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGATCAAGAGATTC TCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGACGTGCATCACCACG CCCAGCTAATTTTTGTATTTTTAGTAAAGATGGGGTTTTACCATG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(57): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp1 HG01993.hp2 HG02148.hp2 HG02257.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18942.hp1 NA18956.hp1 NA18967.hp1 NA18972.hp1 NA18984.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp1 NA19010.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0035	a0001c0001t0001g0249 a0001c0001t0003g0003 a0001c0001t0003g0004 others(51): Show a0001c0001t0001g0249 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0282 a0001c0001t0004g0104 a0001c0001t0006g0126 a0001c0001t0009g0003 a0001c0001t0009g0233 a0001c0001t0009g0234 a0001c0001t0009g0235 a0001c0001t0009g0236 a0001c0001t0010g0013 a0001c0001t0010g0123 a0001c0001t0010g0132 a0001c0001t0010g0251 a0001c0001t0016g0130 a0001c0001t0016g0257 a0001c0001t0018g0252 a0001c0001t0018g0281 a0001c0001t0023g0128 a0001c0001t0023g0242 a0001c0001t0024g0212 a0001c0001t0031g0284 a0001c0001t0035g0283	60	308	0.1948	-1644	c.400 others(17): Show c.400+2649_400+4292del	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRE5_chr19_14376444_14413723	14400747	GCGCCACT others(1636): Show GCGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTTAGTCTCAGATA AATAAATAAATAAAGTTAAGATTGCATTTAACCTAATAGATCCAACGTAT TAACCACTTTAACATGGAATGATTTTTTGCTTTTTTTGTTTTGATCTGAG ATCGTGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCA AAACAAAACAAAAAAAAAATTACAAAAATTAGCCGGGTGTGGTGGCACGC TTCTGTAGTCCCAGCTACTCAGAAAGCTGAGGTGGGAGGATCGCTTGAGT CTGGGAGGTGGAGGTTGCAGTGAGCTGATTATGCCACTGCACTCAAGCCT GGGCAACAGACTGAGACCCTGTCTCAAAAAAAGAAAGAAAAAAGAACAGG AAATCAAAACAGAGCCTGGCAGGCAGCCCGTGCCCAACCAGTGTTAAGCG CTGTGATTCATACGTGCATGCAGGCAAATACTCAATCCGTCGCTTGTTTT CTGGTTACTGCATCATCTCAGTGATTCCCTTGTGCCTGTGGGTCTCCAGT GTGTCCCCTGGTAGGGGGTGACATCCAGGTCCTTCAGGCAACCCCTGTGG TCTGATGCTCCAGCGATTCTGTCACCCGCCACCCCCTAGAATGTCATCAA ATTGGTGGATGAACTGATGGAAGCTCCTGGAGACGTAGAGGCCCTGGCGC CACCTGTCCGGCACCTCATAGCCACCCAGCTGCTCTCAAACCTTGAAGAT ATCATGAGGATCCTGGCCAAGAGCCTGCCTAAAGGCCCCTTCACCTACAT TTCCCCTTCGAACACAGGTGAGGCCTTGGCCTGGCCTGCCCTGCCCCAAC CCTGGGCCCCACCTGGTACCTGGGGTCCCTAATCACAACTGCCCCTCTCC CCTCAGAGCTGACCCTGATGATCCAGGAGCGGGGGGACAAGAACGTCACT ATGGGTCAGAGCAGCGCACGCATGAAGCTGAATTGGGCTGTGGCAGCTGG AGCCGAGGATCCAGGTAGCAGCGGTGGTCTGGAGGGGGAGCCCGTGGGAG AGAGATGGAGGTGCTGGGATGGGGCCAGGGTGAGGTTCAGAATAGAACAA CTGACTGGGCGCGGTGGCTCACGCCTGCAATCCCAGCATTTTGGGAGGCC CAGGTGGGTAGATCGCTTGAGCTCAGAAGTTCAAGACCAGCCTGGGCAAC ATGGTGAAACCCGGTCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGT GGCACGTGCCTGTAGTCCCAGTTACTCAGGAGGCTGAAGCGAGAGGATCA ATTGAGCCCGGGAGGTCAAGGCTGCTGTGAGCTATGATCACGCCAAAGCA CTCCAGCCTGGACGACATAGTGAGACCCTGTCTTAAAAAAAAAAAAAAGT CCAGGCACAGTGGCTCATGCCTGTAGTCCTAGCACCCTAGCACTTTGGCA GGCTGAGGTAGATGGATCACCCGAGGTCAGGAGTTCAAAACTAGCCTGGC CAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGAG TGGTGGCAGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGACAGAAGA ATTGCTTGAACCTGGGGAGTGGAGGTTGCAGTGAGCTGAGATCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG01074.hp2 HG01074.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0235 a0011c0015t0001g0235	1	374	0.0027	-1643	c.898 others(16): Show c.898-616_1184-185del	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
RMDN2_chr2_37920287_38022744	37958335	TAGTTCTT others(1635): Show TAGTTCTTCTTGAAGAAGTCCTTCACATCCCCTCTAAGTTGTATTCCTAG GTATTTTATTCTATTTGTAGCAATTGTGAATGGGAGTTCACTCATGATTT AGCTCTCTATTATTGGTTTATAGTAATGCTTGTGATTTTTGCACATTTAT TTTTTATCCTGAGATTTTGCTGAAGTTGCTTATCAGCTTAAGGAGTTTTG GGGCTGAGATGATAGGGTTTTCTAAATATACAATTATGATATCCGCAAAC AGAGACAATTTGACTTCCTCTCTTTGTATTTGAGTATGCTTTATTTATTT ATCTTGCCTGGTTGCCCTGGCCAGAACTTCCAATACTGTGTTGAATGGGA GTGGTGAGAGAGGGCATCCTTGTCTTGTGCTGGGTTTCAAAGGGAATGCT TCCAGCTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCACAAAT AGCTCTTATTATTTTCAGAGATGTTCCCTCAATACCTAGTTTATTGAGTG TTTTTAGCATGAAGCCGTGTTGAATTTTATTGAAGGCCTTTTCTGCATCT ATTGTGATAATCAATAGATCATCTCATTGGTCTCACTTGTCATTGATTCT GTTTATGTGATGGATTACGTTTATTGACTTGCATGTGTTGAACCAGCCTC GCATCCTTAGGATGAAGCTGACTTGATTGTGGTGGATAGCTATTTGATGT GCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCGATC TTCATCAGGGATATTGGCCTGAAATTTTCTTTTTATGTTGTTTCTCTGCC AGGTTTTGGTATCAGGATGATGCTGGCCTCATAAAATGAGTTAGGGAGAA GTCCCTCTTTTTCTGTTGTTTGGAATAGCTTCAGAAGGAATGGTACCAGC TCCTCTTTGTACCTCTGGTAGAATTCAGCTGTGAATCCATCTGGACCTGG GCTTTTTATGGTTGGTAGGCTATTAATTACTGCCTCAATTTCAGAACTTG TTATTGGTCTATTCAGGGATTTGACTTCTTCCTGGTTTAGTCTTGGGAGG GTGTGTGTGTCCAGGAATTTATCCATTTCTTGTAGATTTTCTAGTTTATT TGCATAGAGGTGTTTATAGTACTCTCTGATGGTAGTTTGTATTTCTCTGG GATCAGTGGTAATATCCCTTTTATCATTTTTTATTGTGTCTATTTGATTC TTCTCTCTTTTCTTCTTTATTAATCTGGCTAGCGATCTATTTTGTTGATC TTTTCAAAAAACCAGCTCCTGGATTCATTGATATTTTTGAAGGGTTTTTC GTGTCTCTATCCCCTTCAGTTCTGCTCAGATCTTAGTTATTTCTCATCTT CTGCTAGGTTGTGAATTTGTTTGCTCTTGCTGCTCTAGTTCTTTTAATTG TGATGTTAGGGTGTCAATTTTAGATCTTTTCTGCTTTCTCCTGTAGGCAT TTAGTGCTATAAATTTCCCTCTAATCACTGCGTTAGCTGTGCCCCAGAGA TTCTGGTATGTTGTATCTTAGTTCTCATTGGTTTCAAGGAACTTATTTCT GCCTTAATTTTGTTATTCACCCAGTAGTGATTCAGGAGCATGTTTTTCCA TTTCCATGTAGTTGTGCAGTTTTGAGTGAGTTTCTTAATCTTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02723.hp2 others(7): Show HG01243.hp1 HG02622.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 others(7): Show a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0110 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0015g0111	10	328	0.0305	-1642	c.453 others(19): Show c.453-15698_453-14057del	RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 2609 hits)