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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CSH2_chr17_63867016_63878677	63873340	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	410	0.0024	0	c.11- others(4): Show c.11-1G>A		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	1/4					chr17	TogoVar
CSH2_chr17_63867016_63878677	63873341	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	410	0.0024	0	c.11- others(4): Show c.11-2A>C		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	1/4					chr17	TogoVar
CSN1S1_chr4_69926068_69951574	69936565	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02258.hp2 HG02559.hp2 HG02723.hp2 others(3): Show HG02258.hp2 HG02559.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0001 a0001c0009t0003 a0001c0006t0001 a0001c0009t0003	a0001c0006t0001g0066 a0001c0009t0003g0022 a0001c0009t0003g0065 others(1): Show a0001c0006t0001g0066 a0001c0009t0003g0022 a0001c0009t0003g0065 a0001c0009t0003g0067	6	448	0.0134	0	c.154 others(5): Show c.154-1G>C		CSN1S1	ENSG00000126545.14	transcript	ENST00000246891.9	protein_coding	6/15					chr4	TogoVar
CSTL1_chr20_23434685_23449930	23443932	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	452	0.0022	0	c.220 others(5): Show c.220-2A>G		CSTL1	ENSG00000125823.13	transcript	ENST00000347397.5	protein_coding	2/3					chr20	TogoVar
CTHRC1_chr8_103366538_103387989	103382062	AAGGGCTT others(5711): Show AAGGGCTTTCTTTTTTTAAAAAAGACTTGCATATCAAATGAAAGTCTTGG CTTTTAAAAGTATATATAGCCTTTCTTTGTTTATTCAAATAAATTGCTTT TTTGTTTTAAGCTATCTCTGTAAGTATACAAATTCTGGTTTTATGCTTGA AACCTGTAAGAACACTGCTTGTTAAACTTATATCATAGAATGGATATGTA TACATCTTTTAAAAATATTTATGTACCAATTTAGAAAAAGAGGACTTCAT TATAAAAACCTTATCAAGTATTAAAATTTTTAAGTAGCATTACATTAAAC AGAATTACAAACTAGCTTTCTGAAGTTATAAAATTTAACTAAAGGATTTT GCTCTTTGTTCTAAAGAAAGATGTAACTTTCATCTTTGTCTTGCAGTGGA AGGACTTTGTGAAGGAATTGGTGCTGGATTAGTGGATGTTGCTATCTGGG TTGGTACTTGTTCAGATTACCCAAAAGGAGATGCTTCTACTGGATGGAAT TCAGTTTCTCGCATCATTATTGAAGAACTACCAAAATAAATGCTTTAATT TTCATTTGCTACCTCTTTTTTTATTATGCCTTGGAATGGTTCACTTAAAT GACATTTTAAATAAGTTTATGTATACATCTGAATGAAAAGCAAAGCTAAA TATGTTTACAGACCAAAGTGTGATTTCACACTGTTTTTAAATCTAGCATT ATTCATTTTGCTTCAATCAAAAGTGGTTTCAATATTTTTTTTAGTTGGTT AGAATACTTTCTTCATAGTCACATTCTCTCAACCTATAATTTGGAATATT GTTGTGGTCTTTTGTTTTTTCTCTTAGTATAGCATTTTTAAAAAAATATA AAAGCTACCAATCTTTGTACAATTTGTAAATGTTAAGAATTTTTTTTATA TCTGTTAAATAAAAATTATTTCCAACAACCTTAATATCTTTAAATTAATT GCCACTAAAATTGGAGTTTCTAGTCTTTATATCTGAAAAATTTAACATAA ATCCTATTTGTGTTTATTCATTTAACACTCATTTATTAATTTTTAGTACA TGTATAATATGGTTCCATTTTTAAAGGAATACAAAGAGAAAGTGGTATTT ATATGTCAGGAAATATATCAGCACTTTAGGAATTTTATCTTTATTTAACA AAGGGTAACAAAGGATGGATTCTATCCTCAAATTCCTTACCATTTGGTAG AGAATATCAGACATATATAGAAATAACAATAAATCAAAAGTTAATGTGTT GATTACTATAAAAGTGTTGAAGTGGGTGATGTGGTTCAAAGGAAGAGTGA TCACTTCTGGCTGAGGTGATCAGAAAAAAATCCAAGAAGGCAGTATACAT GTAAGATTAGTGAAGTTAAGTAAATTCTGGGCTTGAATTGGAAGTATCAG TATGAACTCCTAAAGTACTTTATCTTAAATAAAGCTACAAAACAGCAACA AAATCTAGCTTTGTTTACCGAAAAGGCCCAGAAACAATGACCAATCCAGT AATGCCCAGAATGTGATCTCTACACTCCCATTTCCTACTAAAAGGAACTA AAAATCCTTGAAGAAATGGGAGATTTCACCTATGGGGCAGGAAATGTACA ATATGAGCATGGAACATTTTGTCATACTGGAAAACAAGGCAGCTATGAAA AACAACTCAAAAGGATCCAAGAGCCAACATTTGAATTGGTTCTCACTGTT AAAGATGACACAATTTAAGCATCAATAAAGAGAACTGCAATGGTTTAAAA CATCAAATATGTTTAAATACATGAGTTCATAATATATTAAAATAATTGGT CAACTTACAGTATGCCAGCAAACCAACTTGTTACTTTGAAAATTGGTAAA TAGAACCAAACATTTCTTCTGCTTTCTCTATATGTACTGTATCTCTGAGT AACCAAATTGTTGATGAAGGGAAATTTCTCTTTCTAAAAGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTATATATATACACACACACACACACACACTAT ATATGTCTTATAGTAACATCACATGTTGGTGGTATAGCTTGTAAATGAAG AAAGAATGATAAAATTCCAATATTACCTTTTTTCGACCCCTCATGAAGGG ATCTAGTAATGAACATCAATGACTGATAATATTCCCAAAAGAGATAGACC AGCAATGTGCCTCTAATGAAAGTATATAACAGCACTCAGGAAGTAGTTTT CCAAGAAACAATCAATTCAGGATCTGATTTAGCCTCTAGTTCCAACCATT AATTTGTGGGAAATACACAGGATAAAAGAGCATGTTCATTGACACCACAG GGATATAATCAGCAAAATCCAGACGGTGGGAAACTTGAAAGACAATTTGG TTTCTTTAATAAATAATTGTAAGAAAAGTGAGGCAGGAAAAAAACTTATA GATTAAAAGAAAAGATCATATCAACCAATTGCAATGTTTGGACTTTATTT GGATACTGATTCAAGAAAACTATAAACACAAAAACAAAACTTCCTTGAGA CAGTTGAGGACGTGAACATTGGCTGGATAGTTGATGATATTAAATAATTA TTTATGTCTGGTAATGGTATTGCTCTTTTTAAATAGTACTTTTATCTTTT CAGTATCTTTTAGAGATACTGAAATATTTAAGATAAAGTGATGTGACATC TTGAGTTTGCTTCAGAATAATCTAGAAATGGGAAGTAGAAGGGGAGTCTA GATGAAATAATATTGCAGATAGGTAGATGTTAACCAAGATGGGTAAAAAT TTTGACAAATGGGGATAGTTGTTAAGAATAGTTTTGGTAGAGGCAACAAC ATTAGTAAAAACACTGGGGTATTAATAAAATAGAAATAATGTTTTTAGGT GGGTTGAGCTTAAGTAATGTGTGTAGAAACAATAAGAGACAAATGTGGTG TGCTTATTTCAGCAGCACATATACTAAAATTGGAACAATACAGAGAAGAT TAGCATGGCCCCTGTGCAAGGATGACACGCAAATTCATGAAGCGTTCCAT ATTTTTACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAACAG AGAGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATATCA AAACCTAGCAGAGACATAACAAAAAAGGAAAATTTCAGGCCAATATCTCT GATGAACATCAATGCAAAAATCCTCAATAAAATATTGGCAAACTGAATCC AGCAGCAATTAAAAAGCTTATCCACCATGATCAAGTTGGCTTCATCCCTG GGATGCAAGGCTGGTTCAACATACGCAAATCAATCAACGTAATCCATCAT GTAAACTAAACCAATGATAAAAACCACATCAATAGATGCAGAAAAGGCCT TTGACAAAATTCAACACCACTTCATGCTAGAAACTCTCAATAAATTGGGT ATTGATGGAACATATCTCAAAATAATAAGATCTATTTATGACAAATCCAC AGCCAATATCATACTGAATGGGCAAAACCTGGAAGCATTCCCTTTGACAA CCGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAACATAGTA TTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAGGAAATAAAGGGTAT TCAAATAGGAAGAGAGGAAGTCAACAAATTGTCTCTATTTGCAGATGACA TGATTGTATATTTAGAAAACCCCATCGTCTCAGCCAAAAATTTCCTTAAG CTAATAAGCAACTTCAACAAAGTCTCAGGATACAAAATCAATGTGCCAAA CTCACAAGCATTTCTATACACCAGTAACAGACAAACAGAGAGCCAAGTCA TGAGTGAACTCCCATTCACAACTGCTACTAAGAGAATAAAATACCTAGGA ATCCAACTTAGAAGGGACGTGAAGGACCTCTTCAAGGAGAACTATAAATC ACTGCTCAAGGAAATAAGAGAGGACACAAACAAATGGAAAAACATTCCAT GCTCATGGATAGGAAGAATCAACATCATGAAAATGGCCATATTGCCCAAA GTAATTTATAGATTCAATGATATCCCCATCAAGTTACCACTGACTTTCTT CACAGAATTGGAAAAAACTACTTTAAACTTCATATGGAACCAAAAAAGAA CCCACATAGCCAAGACAATCCTGGGCAAGAAGAACAAAGCTGGAGGCATC ACGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGC ATGGTACTGGTACCAAAACAGATATACAGACCAATGGAACAGAACAGAGG CCTCAGAAATAACACCACACATCTATAACCATCTCATCTTTGACAAACCT GACACTAACAAGCAATGGGAAAAGGATTACCTATTTAATAAATGGTGTTG GGAAAACTGGCTAGCCATATGCAGAAAACTGAAACTGGACCCCTTCCTTA CACCTTATACAAAACTCAACTCAAGATGGATCAAAGACTTAAACGTAAGA CTTAGGACCATAAAAATCCTAGAAGAAAACCTGGGAAATACCATTCAGGA CGTAGGCATGGGCAAAGACTTCATGTCTAAAACACCAAAAGCAATGGCAA CAAAAACCAAAATTGGCAAATGGGATCTAATTAAACTAAACAGCTTCTGC ACAGCAAAGGAAACTATCATCAGAGTGAACAGGCAACCTACAGAATGGGA GAAAATTTTTGCAATCTATCCATCTGACAAAGGGCTAATATCCAGAATCT ACAAAGAACTTAAACAAATTTACAAGAAAACAACAACCCCATCAAAAAGT GGGCAAAGGATATGAACAGGCGCTTCTCAAAAGAAGACATTTATGCAGCC AACAGACAAACGAAAAAATGCTCATCATCACTGGTCATTAGAGAAATGCA AATCAAAACCACAATGAGATATCATCTCATGCCATTTAGAATGGCGATCA TTAAAAAGTCAGGAAACAGGGTGGGCGCGGTGGCTCATGCCTGTAATCCC AGCACTTCGGGAGGTCTAGGCAGGGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAATT AGCCGGGTGTGTTGGCACGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGGGAATTGCTTGAACCTGGGAGAAGGAGGTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGTGGCAGAGGGAGCCTCTTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAGGAAACAACAGATGTTGGAGAGGATGT GGAGAAATAGGAACACTTTTACGCTGTTAGTGGGAGTGTAAACTACTTCA ACCATTGTGGAAGACAGTGTGGCAATTCCTCAAGGATCTAGAACTAGAAA TACCATTTCACCCAGCAATCCCATTACTGGGCATATACCCAAAGGATTAT AAATCATTCTACTATAAAGACTCATGCACACGTATGTTTATTGCAGCACT TTTCACAATAGCAAATACTTGGAACCAACCCAAATGTCCATTAATGATAG ACTAGATAAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCC ATGAAAAAGGATGAGTTCATGTCCTTTGCAGGGAGATGGATGAAGCTGGA AATCATCATTCTCAGCAAACTATCACAAAAACAGAAAACCAAATACTGCA TCTTCTCATTCATAAGTGGGAGTTGAACAATGAAAACACACGAACATAGG GAAGGAAACATCACACACC	A A	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG04184.hp2 HG04184.hp2	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0004 a0000c0004t0004	a0000c0004t0004g0070 a0000c0004t0004g0070	1	408	0.0025	-5718	c.590 others(13): Show c.590-395_*5180del		CTHRC1	ENSG00000164932.13	transcript	ENST00000330295.10	protein_coding	4/4					chr8	TogoVar
CTSW_chr11_65874837_65888741	65883507	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	366	0.0027	0	c.102 others(6): Show c.1021-1G>C		CTSW	ENSG00000172543.9	transcript	ENST00000307886.8	protein_coding	9/9					chr11	TogoVar
CUBN_chr10_16818966_17134811	16928305	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02717.hp1 HG03209.hp1 HG02717.hp1 HG03209.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0002 a0011c0008t0001 a0011c0008t0002	a0011c0008t0001g0144 a0011c0008t0002g0145 a0011c0008t0001g0144 a0011c0008t0002g0145	2	192	0.0104	0	c.612 others(6): Show c.6125-2A>G		CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	40/66					chr10	TogoVar
CWC22_chr2_179939876_180012297	179954358	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19081.hp1 NA19081.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0086 a0011c0019t0001g0086	1	376	0.0027	0	c.153 others(6): Show c.1537-1G>A		CWC22	ENSG00000163510.14	transcript	ENST00000410053.8	protein_coding	15/19					chr2	TogoVar
CXorf51A_chrX_146809106_146819744	146814392	TCTTTAGG others(8): Show TCTTTAGGCCCTACAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0013 a0008c0005t0001g0013	1	264	0.0038	-15	c.133 others(24): Show c.133-6_141delCTGTAGGGCCTAAAG	p.Gly others(11): Show p.Gly45_Thr48del	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding	2/2	162/449	133/327	45/108		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146810073	CAAAACCA others(2016): Show CAAAACCAACGCCCTCTGGCCTGACTGTGATCTCCCTGTAGGGCCTAAAG ACCACCAGGAAGGCGAAAAGACCCCTTCGAGGGAGCTCGAGCCAAAAAGC CGGTGAAACTAACACCCCTGCAGGAAAACCTAAGAAAGCTAGAGGACCAA TACTGCGTGGTCGTTATCACCGGCTGAAAGAAAAAATGAAGAAAGAAGAG GCCGACAAAGAGCAAAGCGAGACCTCAGTTCTGTGATGTCTCTAGAGGTC CGCCACTGAAAAGTCATCAATCATACAGTCAGTGAATTCTACACCAACAG GTTAAAACCATGAAAATAAAATCAACCTGAATCGAAAGGATATGTCTCTG TGACTTCTCTGATGGTGAGGAAGGAAGGAGTGAGGGGAAGAGGGAGGTGT GTGTGAGAAGGCAGGGAGGTGGCTTCTGTGGGGTTTGAGGCCAGACCAAC AGGTCCACAGCTGGAAACTGGGGGGATAAGGACTGGCTCAGGACTAAGCA CTGAAGATAAATTTCCTGAACACTTTTTAATACACAAAGAGTGAAAGGGG TTGGTGTTTCTACCTGTGTGTGTTTTGGTGGGGAAAGAGGGATGTGACTT CAGTGTATTGATTGTCAGAACCTGTATGGGGTGAGGTGTGTGGGTGGCAG TACTATCCCCAAAAACAGACAAGAGATAACCTGCAGGCCATCTACCTCAT AATGGTAGGTATGAGGTACACCCCACCCTATGATATAAGCAACTAAATGC CCTTCAAAGGGCCAAATATCTCTAAAAGTTACCAGCAGCACCTGAAATAA TGGTTACTAGATGCCACAAATCCAACACTGACTAGCCCACCTTCTTAAAA AGCTTAGGGCGGGGCAGGGCAATGGGAGTGGTCTACCTCTAGTGCGGGCA GTGAATGAGAGCATTGTCTACAGAGAATTTTAAAACAAGATAGCTCTCTC TCTCCGTCTTTTATTTTTATTTTTCCAAAGTTGTTTTTATCCCTAAAGAG AATATCATTTTTCAACAGCTTTACTGAAGTATAATTGACATATGACAAAC TGCACATGCTTAAAAAGTATACAGTTTGATGAGTTTTGTCACATCTGCTC TTGTTAAACCATCACAACTATAAGAGTGAACATACCCATTACCCCCTAAA GTTTTCTCATGCCGTTTGGCAATTCTTCCCTGTCCCTACCTCCACCATCA TTCTCAAAAAAACCCGCTGATTTGCTTTCTGTCACTATCTGTTTCTATTT TCTGGAGGTTTGTAAGAATGGAATCATAAGATATGTACTCTTTATTTTTT TCTAGTCCAGCTTCTTAGAACAACTATCTTTCCTTCCCAAAGATATTTTG TTTTGTTGGTCTGCTTTTTAAAAGATTGCTGTGGTCAATACGTTTTAATC ATGTGTCTACGGGAGTGGTCTTAAAACAGCACAATTTCTCATTATATTTT AATGAATACTTATTGTATTCTACAAGGAAATTCATGCAGATAATTTCCTG TTATACCATTGGCCTCAGGTATCACCTGACTCAGTTGTTGCTGTTTCTTT CTAAAGCAAGCTCCTAAGGATGTGGTATTTCTTGCAGTGCACTTTGGGCC ATAAGCCATGGTCCTGTATGACACACATACACCAGCATTTAAACAATATT TCTAAAACAATAATAGTACAGTCATTGATTTTAAAATAAAGGAATAAATA ATCTGAGTTTTTCCTGTGCTGTCATTCCATGTGACCACTTGTTTGGATGA TGCCTAAGTTAATAAAACAAAGTATGAATGGCAAGGTATAAATGTTTGAG AAGTTCAAATCTTTACTTCATTTCAACAAAAAATACTTTGTAAAATTGAA CTATATCTCTAAAAGTAAAATTTATTCTTCTTTAATTGTTTAATAGTTAT TTTAGAACTACAGACCAATTCAAGGAAATCAAATGTTACATATGTGGATA ATTTATTAATTGACTAATTTGTCCCTTCTGCATAATTTTTGGTTTTCTTA AAGTACCATTTTATATGTTACTTT	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG06807.hp2 HG06807.hp2	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0002 a0000c0006t0002	a0000c0006t0002g0006 a0000c0006t0002g0006	1	272	0.0037	-2023	c.133 others(12): Show c.133-40_*1788del		CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding	2/2					chrX	TogoVar
CYBA_chr16_88638289_88656053	88646840	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0122 a0003c0003t0002g0122	1	460	0.0022	0	c.204 others(5): Show c.204-2A>C		CYBA	ENSG00000051523.12	transcript	ENST00000261623.8	protein_coding	3/5					chr16	TogoVar
CYP2D6_chr22_42121499_42135810	42128945	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00323.hp1 HG00733.hp1 others(22): Show HG00140.hp2 HG00323.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01952.hp2 HG02647.hp1 HG02698.hp1 HG02886.hp2 HG02965.hp2 HG03490.hp2 HG03834.hp1 HG06807.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0003 a0005c0005 a0008c0009 a0003c0003 a0005c0005 a0008c0009	a0003c0003t0001 a0005c0005t0001 a0008c0009t0001 a0003c0003t0001 a0005c0005t0001 a0008c0009t0001	a0003c0003t0001g0015 a0005c0005t0001g0004 a0005c0005t0001g0076 others(1): Show a0003c0003t0001g0015 a0005c0005t0001g0004 a0005c0005t0001g0076 a0008c0009t0001g0013	25	417	0.0600	0	c.506 others(5): Show c.506-1G>A		CYP2D6	ENSG00000100197.23	transcript	ENST00000645361.2	protein_coding	3/8					chr22	TogoVar
CYP39A1_chr6_46544580_46657818	46629865	ACTGTTGG others(1424): Show ACTGTTGGCACTGAACATGACGTGACAGACAAATCTCATGGCTCTAATCT AATGCAAGACAGATTTTAAAAGAAACAGTTTTTTAGCCGGGCCCAGTAGC TCACGCATGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGGGAATCGCTT GAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTC CAGCCTGGGTGATAGAATGAGACACCATCTCAAAAAAACAAAACAAAACA AAACAACAACAACAACAAAAAAACCCACAAAAAACAGTTTTTTAAGTCTT GCCTCTCTTTAGAAGTGTTGAAAGTTCCAATTTCACCAGCACCATTCATG CGGAAGCTTGTAGGACCATAATGCTAAGCAATGCAAACAGGAATGGCACA CAGAAGGAGAATGGGTACAAATGGAGAGAAAGAGCTAATATTCATTGATA CCAGCTAGGCTTATCTTATTAAATCCTCATAACAACTTTGTAGAGAAATG AGAATTACCATTTATTGAGCACCCAAGTTCTAAGACCACAGTGGGAGGTT CACATACATTATCCCTTTTTTTACCCTTATTAGGTAAAATAGTACATTAT CTCTTATTAGGAAATGGAGGCACAGAAAATTTAAATTACCACCATGACAG TCTACAACTACAAATTGGGATGTCTGGATCCAAGCCCAAGTTACCTGAAA CTATCCATTTACTTACTCTTTCCAATAAAAGCATGTGGCCAATCCCTATT CATCTTTTCAATACCAATACTGAGCACATTGGTAGACATACAAAAAGTGT TCCATAAACAGATGTTGTCTACAACTGGCCCCAAAGGGCAAGCTTTTCCC TCATCCTGTTACACACTGCCTTTCAGAGGACAGAATTTGCTTGAGATCTG TTTCGTCTCCTTTGTAACCTAATCAGATTTCATTAGGCATTCAGTTTTGG TTTTTATCTCACAACCAAATCCACTGTAGTTTTTTTCTTTTCCATAATGA GTGATGAGTGGAAAAAAGAATGGAAGACAGAAATGAAGGAAAAAAAGATG AAAGGACAGTGGAGAGCAACGTAACTCATACTTTACTAATATACTTACAG GAACAGCATTAGACAGAGAAGCCCAAAGCAGTAAGAGCCCATAATTGGGT GAGTTTTCCTTACTTGTTTCCGTCTCTACAATATCCAGCGTAGCTTGCAA TAATGTCTGTTTAAAAGAAATAAACATTGCCAAACCATGGCTATGTGACA AATATCGATGTTAATAAACAAGAGATCATGCCTTTTTCTTTAATATGAAA GATATCATTTCTGCCATTCCCAGGTTTTGCAGTTTGAGGCATGTGAAGGG ATTTATGTCCTTACTGTAGTATAGTAATTAGGAGTAGGGATTCTGGAGCT TGACCGCCTCACTGCATTTGTTCAAATCCTGG	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0178 a0010c0011t0001g0178	1	310	0.0032	-1431	c.733 others(16): Show c.733-226_840+1097del		CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	6/12					chr6	TogoVar
CYP3A43_chr7_99823013_99871093	99863766	AAAAATTA others(2166): Show AAAAATTATTGTTCATTTTTCAATAATTTGCTCTGTAGGACAAAGAATCT AATTGGAGCTATCCATAATGCTTAAAGATGAATCACTTCTGGAGTTCAAA ATCTGTGGCTTTGTAAAGACAGAACTATAAAGATCATCTAATGTCAATAT AGATTAGCATGGTATAATTATGTTCAGTCTCTGTGAACTTGAGCAAATTT TAAATTCAGTTTCATGTCAACTGTAAAGATGAGGAAGTCTTTTGCACAAT CATGAAGTGCAATGATTACTTTGTCAGGACTTTCGAATGGTGCTCTCCTC CACTAGAACTCACTAGAACTTGCAGAAGCTTTCTCATGACAGTGTTTCTC AACCACTAGCTGTACATTGGAATCACTGGGGAGCTTCAAAAATTCATGAT GCCTGGATCATCTCACAAATTCTAAACTAATTTGCCCAGAGTTGTGGCTT TAAAAGCTCTCCCATTGGTCCTCATGTGAAGCCAATGTTGGGAATCACTA ATTTAAGGCATTTCTGCCAGATAGAAAAGATACTTACAGTCCAAGGCCAT CCTGACCATTTGACCTTATCTTCCAGGAGCACTGCTTCGCTGCTTCATAC AAGCTGTGCATCTTTTCAACCCAATAATAGCTCTATGAATGTTCTTCTTT TCCTTCTCATTATGTTCCTATCCCACAAGTCCTACATCAATTCCCCAAGC CACTCTAAGAAACCTTCCCCATCGAGTACAGGGCCAGTTATTCTTCTGCT TTGTTACTGTTTATTGCAGGCTGTTATCATCACCTAATCTTATACTTTTC ATTAAACCACTCAGTTTTATTCTACAAGTCTTTTCTCTATTCTAAGAATT TCTCCTCTCTGCCCCATTTATGTTGTTTTGTTTTAATTCTTTCATAAAAG TCCAATAGTGTCTTGCAGAGGACATTATCCATTGCAGGCATTCCACACAT GTTTAAGGAGTGAGTTTCAGTTGATTTGGAGTTCTTGGATACAAGTTTTA AGCTGTTTAATTTTTAAATTTAATATGTGACATTTGTATATTTGAGTGTG TATGTCTGTCTGCAGGAAAAACATTCATGCCATTTGAAATTTTAAAATAA TGAGTCACATTAATAGAAAGATATGGAATCTTTCTCTGAAGAACTTAATG AACACTTGTCATTTATTTATATCAAGCAAGGCCCTATAAGCCTTATTTCT AGGACTTGTGCATTTACTATGCAACTCCTATTCTAAAGTAGGCTTTGTGC ATGGGAAGGAAGAATAGATAGGGTTTCAATCTTATTTGTGGCTTTAGGGA AGCTGTACATCCATCCTCTAAGTGTGTACAGACAGGGGCTCAACTCTGAA TAAAAGCAGGTCTCTGGCACACATGGGATGGGGTGATACTCCCTGGCAAT TTCCCAAGCATCTACTAGCTGGCACTTTTCAATTTCCATGACAATTTGCC TGCCCTTCACTTAACTGACATCAGAACATTTCTCTGCTGGCTGCTCCCCT GACACTGAAGTGACTTGGGAGAATGAGGGCTCAAAGTATTAGTCAAAACA CTATAGGCCTTGAGAAGCTTCCCATTTGCATTTCCTTTGGAAATCAAGAG AAGAAGTAAAAAACAAAAGCATAATGCTTCTTGAAGATCTCTTCCCATCA TTACACTGGATAGGTTCAGTTGGATGGAGTTAGTGAATGCTTAATAAGTT GAAGACTGTCCATATAATTGAAATATATAACACCTACTGAGGATTACCTT GCAAGTTTCATCATATACAAAATTAACTTTATATGGCTTTTCCAAAATAG TTTAACATAATGCCTAATAATCTGGATTTGATTTTTTAAAATATCTCTTT GCTTAAAATTTAAATAAAAAGGAACAGAAGCCAGCATGAACAATCTCAAG CCTGGCACAGAATAGATACTCAATAAATATTTTGTTAAATGATGAATGGT AAATGCTTTCACTATCCAATCTTCACAGAGCTAACTGAACAAGTACAAAT AAACCAACATGTATGGTGCTGAAAGTAGTTTTTTTTTAGTCATTGCAAAG CATTACCCTTGATGTCATCTTTTTTATTTTGCTTCTATCTTTTCTTCATT TGCTTCATTGTTTCTGAATATTCTTGTTTAACTTTTGCAGATCCCACTGA AATTAGACAATCTACCAATTCTTC	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0010 a0002c0011 a0002c0014 others(3): Show a0002c0010 a0002c0011 a0002c0014 a0003c0004 a0003c0005 a0007c0017	a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 others(3): Show a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 a0003c0004t0001 a0003c0005t0001 a0007c0017t0001	a0002c0010t0001g0035 a0002c0010t0001g0180 a0002c0011t0001g0036 others(13): Show a0002c0010t0001g0035 a0002c0010t0001g0180 a0002c0011t0001g0036 a0002c0011t0001g0181 a0002c0014t0001g0182 a0002c0014t0001g0192 a0003c0004t0001g0011 a0003c0004t0001g0012 a0003c0004t0001g0184 a0003c0004t0001g0207 a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0005t0001g0005 a0003c0005t0001g0226 a0007c0017t0001g0216	28	326	0.0859	-2173	c.141 others(12): Show c.1416+70_1452del	p.Ile others(13): Show p.Ile473_Pro485del	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	13/13		1417/1512	473/503	INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP3A43_chr7_99823013_99871093	99865905	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	326	0.0031	0	c.141 others(6): Show c.1417-1G>T		CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	12/12					chr7	TogoVar
CYP4A22_chr1_47132441_47154727	47144549	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 NA18995.hp2 HG00609.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	440	0.0046	0	c.898 others(5): Show c.898-1G>A		CYP4A22	ENSG00000162365.13	transcript	ENST00000371891.8	protein_coding	7/11					chr1	TogoVar
CYP4F12_chr19_15668087_15702174	15696429	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	410	0.0024	0	c.131 others(6): Show c.1315-1G>C		CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	11/12					chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15649912	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0187 a0001c0001t0010g0187	1	424	0.0024	0	c.648 others(5): Show c.648-1G>A		CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	6/12					chr19	TogoVar
CYP4V2_chr4_186186567_186218463	186201150	CATACAGG others(8): Show CATACAGGTCATCGCT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18949.hp1 NA18949.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0013 a0012c0021t0013	a0012c0021t0013g0184 a0012c0021t0013g0184	1	452	0.0022	-15	c.802 others(24): Show c.802-6_810delATACAGGTCATCGCT	p.Val others(13): Show p.Val268_Glu271del	CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding	7/11		802/1578	268/525		chr4	TogoVar
DAPK1_chr9_87492867_87713634	87643366	T T	TA TA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02622.hp2 HG02818.hp2 HG02922.hp2 others(4): Show HG02622.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03516.hp2 NA19007.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0020 a0002c0003 a0002c0015 others(1): Show a0001c0020 a0002c0003 a0002c0015 a0007c0035	a0001c0020t0001 a0002c0003t0002 a0002c0003t0009 others(3): Show a0001c0020t0001 a0002c0003t0002 a0002c0003t0009 a0002c0015t0002 a0002c0015t0006 a0007c0035t0002	a0001c0020t0001g0079 a0002c0003t0002g0035 a0002c0003t0002g0233 others(4): Show a0001c0020t0001g0079 a0002c0003t0002g0035 a0002c0003t0002g0233 a0002c0003t0009g0228 a0002c0015t0002g0162 a0002c0015t0006g0040 a0007c0035t0002g0217	7	236	0.0297	1	c.919 others(6): Show c.919-2dupA		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	10/25				INFO_REALIGN_3_PRIME	chr9	TogoVar
DAXX_chr6_33313558_33327959	33318792	GCCACACT others(27): Show GCCACACTTGTCTGCAGGGAAGTGAGAGACAAAGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0026 a0006c0011t0001g0026	1	375	0.0027	-34	c.216 others(46): Show c.2164-24_2173delTCTTTGTCTCTCACTTCCCTGCAGACAAGTGTG G	p.Thr others(5): Show p.Thr722fs	DAXX	ENSG00000204209.13	transcript	ENST00000374542.10	protein_coding	8/8	2323/2558	2164/2223	722/740		chr6	TogoVar
DAZ2_chrY_23214533_23296356	23247631	GGAGAGTA others(2365): Show GGAGAGTATTACCTCCAACTCACCGGAGCTGCTTTCCCCCTTATAAGCAG TTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATT CTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCTTTATTTGAAATGATTG CCACATGCCTCCTCATATAAATGGCTGACTTCTGGATATATTCTGGTTCT GGAATGGGCAGATTTCTGACGTGGTTTAGTATATATATATAAACCCGGTG AGTTTCTGGCATGTAATTTCTCTGATCGTGGTTACATTGATATTTAAAGT AGGGTTTGACATAGTGTGTCACTTACTGTTGATAAATATCGTTTATTTTC TTCTTAGTTCATTTCATTGATGTGTTAGCTTAAAAGACATTTTCTTTGAC AGAAAATGAAGTAATGAAATAATAGTGAAATCGTTCTGCTGTGTCTCTAA TTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCTT TTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCCCTACTTGTTTCTCTCG TTTACTGTGAGGCATTAGTGATTCTGGGTGTATTCATGTATGCTGCTAAC TGTATGTTTTCAAACAATAAGAATTTGTTGAAACATGTCAGACATTATAC TTTTTATTCTCCAGTATTGGAATATAGACTGCAATTAGTTTTTTGGAATG AAATACAGACAAAGCCATAACATCTATAGAACTACATATTACCCTACAAT ATTGTCTGATACAAAACAGTCTGGAAATATTCTTACAGCGAAATTGCAAA TGTATTGATTTACCTTACATTGCAATCTGTCTTAGTGGAACCTTATCACC AGTGTAAGACATAATTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAA TTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTTCCCCCTTCACACCCAA AGTGTAGCACTTGACATAGAATCTTTCTTTCCTCATAAAGTCATTCATTT GGAATTCTGCATTGTTGTATGTAGAAAAAGGATATTTTCCGTTTTGTAAT ATTTTTCTTATATTGGGAATTATATTTCTTTCTAATTTTAAAATGTGGTT TACCATATTCATTTTTTCTGCAACCTTTTCAGGCATTTCCTGCTTATCCA AATTCACCAGTTCAGGTCACCACTGGATATCAGTTGCCTGTATACAATTA TCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCTTTCAGGTATTATTGAG GCCTTTAACTTGTTTATAGAAATTTCCTGAATAGTTGGTCATTTTTAACT AGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTAGTGTAGAATGAAGACC TCTGTCTTATTTAGAAGTAATGAAGTAATATTTTTACAGGAATATCCTTG GCAATAACATTTGTGTAGAAGAGATTTCTGAGATTTGGTGTCCCCTTCTT CATTTGTGGATATAGTTTTCATCTTTGCTGTCAAATAGCTGAATGAAACA TCCAAACTGACTTTCATGAATTTTTTTAGGGAGATAGAGTGAAATAAAAT TATGATCCACTTTTCAGAGCACAGAATTCCAATTATATTTTCATTTTAGC TGGCTGTTTGACGGTAGTCATTCTCAGGATCTCTTCTCATAGATACAAGT ATATCTATGACCCATAACTATATCTATGGTAATAAACTGAAAGAGCTAGT ATTTTTGAGGTTTCCACATTGCCAACTCCCAAAAATTTGGAGAAAGGTGA AGATTCAAATTTAAAGTAACAAGAATGTCATGGACAAGAAACATAAAGTA CTTAAGTTTTCCTTTCTGTTACTTTTATTATAATAAAAAAGGAGACAGCG GAATAAGTACTTCAATACTGTGTTTCTCATGTGTGTTTGAAAATATGTAG GAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTTTTTTTTTTTTTAAAGA TGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTGTCCTTGAC GTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTT CCATGTCCTATATGCCTATAAATATTTTTAAGTGATTCTTTATATTAATT TTTTTGTCGTTGTTACTTTCTTGTTAACCCGATTATGAACTCCCATGGGA GCAAGAGTGCCTTTTTTGCCCTCAGGTTTTTATGTGCCTAAGCAATGGCA GGTCCACATAATGATAGACTATATAATCACAGAAAAGTAGTATTCACTTG ACTTTAGAATTATCACGTATCTGCCAATAATCTGCCTCTGGCTTTACCAG CAATAGAAAATTTATAGAAGAGAAACAGAATTGCTTTGCTGTTAATGACG CTTAAATAAGAACAGGAGTGAAC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01243.hp1 HG01261.hp1 others(5): Show HG00738.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01934.hp1 HG03139.hp1 HG03579.hp1 NA20752.hp1	a0003 a0010 a0013 a0003 a0010 a0013	a0003c0003 a0010c0009 a0013c0012 a0003c0003 a0010c0009 a0013c0012	a0003c0003t0001 a0010c0009t0001 a0013c0012t0001 a0003c0003t0001 a0010c0009t0001 a0013c0012t0001	a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 others(5): Show a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0046 a0010c0009t0001g0018 a0013c0012t0001g0036	8	54	0.1482	-2372	c.107 others(19): Show c.1075-1114_1147-1125del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	15/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ2_chrY_23214533_23296356	23273519	CTAGAAAC others(2377): Show CTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTACTTGTATTATAAT AAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTGTTTCTCATGTGT TTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTTTCCTTTTTTTTT TTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAGCAAAGGGATTATG TTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGACTTCCTGTTCATTC TTGGTTTTTTTCCACGTCGTATATGCCTATTACTATTTTTAAGTGATTTT TATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGTTAACCCGATTATA AACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGAGGTTTTTATTTGC TTAAGCAATGGCAGGTCCACTTAATGATAGACCATATCATCAAAGAAAGG TAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGCGTAGATTCTGCCT CTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAGACAGAAATGCTTT GCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACGAGAGTATTACCTC CAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTTCCTAAAGTGAATG AAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCTTCGGTAAGTTTAA CAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCCAGATGCCTCCTCA TATAAATTGCTGACTTCTGGATATATTCTGGTTCGGGAATGGGTAGATTT CTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCTTCTTGCATCTAAT TTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGTTTTGACATACTCC ATCACTTAATGTTGATAAAGGACGTTTATATTCTTCTTAGTTCGTTTTAT TTATGTGTTAGCTTTAAAGACATTTTCTTTGACGGAAAGTGAAGTAACAA AATAATAGTCGAATAGTTCTGCCGTGTCTCTAATTTGTTGATATTTTCCA TGTACTTGAAACATGTATGGTACACCTCTTCTTTTTCCTTCTCTGAACAA TGGCTAGAAAAAAAACCCTACTTCTTTCTGTCATTTACTGTGAGGCATTA CTGAATCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAAACAA TAAGAATTCATTGAAACATATAAGACATTATACTTTCTCTTCTCCAGTAT TGGATTATAGACTGCACTTAGTTTTCCGGAATGAAGTACAGACAAAGCCA TAACGCGTGTACAACTACACATTGTCCTATAATATTGTCTGATAAAAAAC AGTGTAGAAATATTCTGACAGGGAAATAGCAAATGTATTAATTTAACTTA CCTTGCAATCTCTCTTAATGGAGCCTTATCACCAGTGTAAGAAATAACGT CTGGGTGTGAATACGTACACAGTATAAGGTAAACTTTGGTGAAGTCGTCA ATTCTTTTGTCATTTCTTCCCCCTTCACACCCAAAGTGTAGCACTTGACA TGGAATCTTTCTTTCTTCATAAATCAGTCATTCATTTGGAATTCTGCATT GTTGTATGTAGAAAAACGATATTTTCCCTTCTGTAATATTGTTGTTATAT TGGGAATTATATTTCTTTGTAATTTTAAAAAGTGGTTTACCATATTCATT TTTTTCTGCCAACCTTTCTTTTCAGGCATTTCCTGCTTATCCAAGTTCAC CATTTCAGGTCACCACTGGATATCAGTTGCCTGTATATAATTATCAGGTA ATGTAAGAAGGAGTAAAATTATTTGCTTTCAGGTATTATTGAGGCCTTTA ACTTGTTTATACAAATTTCCGGAATAGTTGGTCATTTTAAACTAGTGAAG TGTACCTAAAATTTAAGGAAACACTTAGAATTAGTGTAGAAGGAAGACCT CTGTCTTATTGAGAAGTAATGAAGTCGAATTTTGACAGGAATATACTTGG GAATAACTTTCCTGTAGAACAGATTTCTGAGATTTGGTGTCCCATTCTTC ATTTCTGGATGTAGTTTTCATCTTTACTGTCAAATAACTGAATGAAACAT CCAAACTGACTTTCATGAATTTTCTTAGGGAGATAGAGTGAAATAAAATT ATGACCCACTTTGCAGAGCACAGAATTCCAACTATATTTTCATTTTAGCT GGCTGTTTCACGATAGCAATTCTCTGGGTCTCTTTTCACAGATACAAGTA CATCTATGCCCAATAATTATATCTATGGTAATAAACTGAAAGAGCTAGTA TCTTTGAGGTTTCCACATTGCCAACTCCCGAAAATGTGGAGAAGGGTGAA GTTTCTAATATAAAAGTAACAAGAATGTCATGGAG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0031 a0005c0005t0001g0031	1	54	0.0185	-2384	c.165 others(17): Show c.1651-747_1723-748del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	23/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ2_chrY_23214533_23296356	23274497	TTGACGGA others(2377): Show TTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCTGCCGTGTC TCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTACACCTC TTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTACTTCTTTC TGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCATGTATGCTG CTACCTGTATGTTTTCAAACAATAAGAATTCATTGAAACATATAAGACAT TATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTAGTTTTCCG GAATGAAGTACAGACAAAGCCATAACGCGTGTACAACTACACATTGTCCT ATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACAGGGAAATA GCAAATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTA TCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACACAGTATAAG GTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCCCCCTTCAC ACCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCATAAATCAGT CATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGATATTTTCCC TTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGTAATTTTAA AAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTTTTCAGGCA TTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGATATCAGTT GCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATTATTTGCTT TCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCCGGAATAGT TGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAAACACTTAG AATTAGTGTAGAAGGAAGACCTCTGTCTTATTGAGAAGTAATGAAGTCGA ATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAACAGATTTCT GAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCATCTTTACT GTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAATTTTCTTAG GGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAGCACAGAATTC CAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAATTCTCTGGG TCTCTTTTCACAGATACAAGTACATCTATGCCCAATAATTATATCTATGG TAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTGCCAACTCC CGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAACAAGAATGT CATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTACTTGTAT TATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTGTTTCTC ATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTTTCCTTT TTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAGCAAAGGG ATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGACTTCCTGT TCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTATTTTTAAGT GATTTTTATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGTTAACCCG ATTATAAACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGAGGTTTTT ATTTGCTTAAGCAATGGCAGGTCCACTTAATGATAGACCATATCATCAAA GAAAGGTAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGCGTAGATT CTGCCTCTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAGACAGAAA TGCTTTGCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACGAGAGTAT TACCTCCAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTTCCTAAAG TGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCTTCGGTAA GTTTAACAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCCAGATGCC TCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCGGGAATGGGT AGATTTCTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCTTCTTGCA TCTAATTTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGTTTTGACA TACTCCATCACTTAATGTTGATAAAGGACGTTTATATTCTTCTTAGTTCG TTTTATTTATGTGTTAGCTTTAAAGACATTTTCTG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03688.hp1 HG03688.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0050 a0005c0005t0001g0050	1	54	0.0185	-2384	c.165 others(17): Show c.1651-196_1723-197del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	23/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ3_chrY_24758069_24818393	24798494	G G	GC GC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0006 a0008c0008t0001g0006	1	45	0.0222	1	c.643 others(6): Show c.643-1dupG		DAZ3	ENSG00000187191.16	transcript	ENST00000382365.7	protein_coding	8/18					chrY	TogoVar
DAZ4_chrY_24828919_24912040	24881957	CTCCCTGA others(2378): Show CTCCCTGACCGCTTGCGCGTCCCAAGTGAGGCAATGCCTCGCCCTGCTTC CGCTCGCACGCGGTGAGCCCACCCACTGACCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCC GTCTTCGGCGTCGCTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATT CGGCCATCTTGGCTCCTCCCCCACCCCCCTTTTTTTTTCAAGATGCCACC ATAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTTTCCTTGATGTTAAGT GAATTAGCCAAACATAGACTTCCTGTTCATTCTTGGTTTTTTTCCACGTC GTATATGCCTATTACTATTTTTAAGTGATTTTTATATCAATGTTTTAGTT TACTTTTTTACTTTCTTGTTAACCCGATTATAAACTCCCATGGGAGCAAC AGTGCCTTTTTTGCCCTGAGGTTTTTATTTGCTTAAGCAATGGCAGGTCC ACTTAATGATAGACCATATCATCAAAGAAAGGTAGTATTCATGTGGCTTT TGAATTAGCATGCATCTGCGTAGATTCTGCCTCTGGCTTTACCAGCAACA GAAAATTTGTAGAACAGAGACAGAAATGCTTTGCTGTTAATTGCGCTTAA ATAAGAATAGGAGTAAACGAGAGTATTACCTCCAAAGCACCAGAGCTGCT TTCCTCCTTATAACCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATG TGTCTGCCTACTTCATTCTTCGGTAAGTTTAACAGTTCATCTAGCTACCC TTTATTTGAAATGATTTCCAGATGCCTCCTCATATAAATTGCTGACTTCT GGATATATTCTGGTTCGGGAATGGGTAGATTTCTGATGTGGTTTAGTAGG TATATAAATCCCGTGAGCTTCTTGCATCTAATTTCTCTGATCCTGCTTAC ACTGATATTTAAAGTAGGTTTTGACATACTCCATCACTTAATGTTGATAA AGGATGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAA GACATTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTT CTGCCGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTAT GGTACACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCC TACTTCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTC ATGTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTATTGAAACA TATAAGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACT TAGTTTTCCGGAATGAAGTACAGACAAAGCCATAACGCATGTACAACTAC ACATTGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGA CAGGGAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAA TGGAGCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTAC ACAGTATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTT CCCCCTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTC ATAAATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACG ATATTTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTT GTAATTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTC TTTTCAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTG GATATCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAA TTATTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTT CCGGAATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGG AAACACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTA ATGAAGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGA ACAGATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTT CATCTTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGA ATTTTCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAG CACAGAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCA ATTCTCTGGGTCTCTTTTCACAGATACAAGTATAACTATGCCCAATAATT ATATCTATGGTAATAAACTGAAAGAGCTAGTATCTT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0003	1	41	0.0244	-2385	c.164 others(18): Show c.1642-1805_1713+508del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	21/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24882359	CTTTTTTA others(2378): Show CTTTTTTACTTTCTTGTTAACCCGATTATAAACTCCCATGGGAGCAACAG TGCCTTTTTTGCCCTGAGGTTTTTATTTGCTTAAGCAATGGCAGGTCCAC TTAATGATAGACCATATCATCAAAGAAAGGTAGTATTCATGTGGCTTTTG AATTAGCATGCATCTGCGTAGATTCTGCCTCTGGCTTTACCAGCAACAGA AAATTTGTAGAACAGAGACAGAAATGCTTTGCTGTTAATTGCGCTTAAAT AAGAATAGGAGTAAACGAGAGTATTACCTCCAAAGCACCAGAGCTGCTTT CCTCCTTATAACCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTG TCTGCCTACTTCATTCTTCGGTAAGTTTAACAGTTCATCTAGCTACCCTT TATTTGAAATGATTTCCAGATGCCTCCTCATATAAATTGCTGACTTCTGG ATATATTCTGGTTCGGGAATGGGTAGATTTCTGATGTGGTTTAGTAGGTA TATAAATCCCGTGAGCTTCTTGCATCTAATTTCTCTGATCCTGCTTACAC TGATATTTAAAGTAGGTTTTGACATACTCCATCACTTAATGTTGATAAAG GATGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAAGA CATTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCT GCCGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGG TACACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTA CTTCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCAT GTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTATTGAAACATA TAAGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTA GTTTTCCGGAATGAAGTACAGACAAAGCCATAACGCATGTACAACTACAC ATTGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACA GGGAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAATG GAGCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACAC AGTATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCC CCCTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCAT AAATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGAT ATTTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGT AATTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTT TTCAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGA TATCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATT ATTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCC GGAATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAA ACACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTAAT GAAGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAAC AGATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCA TCTTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAAT TTTCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAGCA CAGAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAAT TCTCTGGGTCTCTTTTCACAGATACAAGTATAACTATGCCCAATAATTAT ATCTATGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTG CCAACTCCCGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAAG AAGAATGTCATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTT ACTTGTATTATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTG TGTTTCTCATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGG TTTCCTTTCTTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGG AGCAAAGGGATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAG ACTTCCTGTTCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTA TTTTTAAGTGATTTTTATATCAATGTTTTAGTTTAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01192.hp1 HG01243.hp1 others(6): Show HG00738.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01515.hp1 HG01943.hp1 HG02074.hp1 HG03688.hp1 HG04199.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0001 a0004c0003t0001 a0003c0004t0001 a0004c0003t0001	a0003c0004t0001g0004 a0003c0004t0001g0017 a0003c0004t0001g0018 others(6): Show a0003c0004t0001g0004 a0003c0004t0001g0017 a0003c0004t0001g0018 a0003c0004t0001g0039 a0004c0003t0001g0010 a0004c0003t0001g0011 a0004c0003t0001g0013 a0004c0003t0001g0014 a0004c0003t0001g0015	9	41	0.2195	-2385	c.164 others(17): Show c.1642-803_1714-804del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	21/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24885346	CGTTTATA others(2378): Show CGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAAGACA TTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCTGC CGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTA CACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTACT TCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCATGT ATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTCATTGAAACATATA AGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTAGT TTTCCGGAATGAAGTACAGACAAAGCCATAACGCGTGTACAACTACACAT TGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACAGG GAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAATGGA GCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACACAG TATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCCCC CTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCATAA ATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGATAT TTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGTAA TTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTTTT CAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGATA TCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATTAT TTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCCGG AATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAAAC ACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTAATGA AGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAACAG ATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCATC TTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAATTT TCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTTCAGAGCACA GAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAATTC TCTGGGTCTCTTTTCACAGATACAAGTACATCTATGCCCAATAATTATAT CTATGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTGCC AACTCCCGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAAGAA GAATGTCATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTAC TTGTATTATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTG TTTCTCATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTT TCCTTTTTTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAG CAAAGGGATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGAC TTCCTGTTCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTATT TTTAAGTGATTTTTATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGT TAACCCGATTATAAACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGA GGTTTTTATTTGCTTAAGCAATGGCAGGTCCACTTAATGATAGACCATAT CATCAAAGAAAGGTAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGC GTAGATTCTGCCTCTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAG ACAGAAATGCTTTGCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACG AGAGTATTACCTCCAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTT CCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCT TCGGTAAGTTTAACAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCC AGATGCCTCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCGGG AATGGGTAGATTTCTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCT TCTTGCATCTAATTTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGT TTTGACATACTCCATCACTTAATGTTGATAAAGGAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02735.hp1 NA20805.hp1 HG02735.hp1 NA20805.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0001 a0004c0003t0001 a0003c0004t0001 a0004c0003t0001	a0003c0004t0001g0006 a0004c0003t0001g0005 a0003c0004t0001g0006 a0004c0003t0001g0005	2	41	0.0488	-2385	c.171 others(17): Show c.1714-312_1786-313del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	22/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DCDC2C_chr2_3698575_3853008	3847136	CTTTTCTA others(23): Show CTTTTCTATGTCTTCCAGATGGCCCGGGAGT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18971.hp2 NA18971.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0023 a0000c0011t0023	a0000c0011t0023g0046 a0000c0011t0023g0046	1	324	0.0031	-30	c.106 others(42): Show c.1066-17_1078delTTTTCTATGTCTTCCAGATGGCCCGGGAGT	p.Met others(5): Show p.Met356fs	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	11/11		1066/1095	356/364		chr2	TogoVar
DDX54_chr12_113152173_113190478	113163276	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	306	0.0033	0	c.193 others(6): Show c.1939-2A>G		DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding	15/19					chr12	TogoVar
DDX60L_chr4_168351735_168485492	168421910	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02922.hp1 HG02922.hp1	a0012 a0012	a0012c0056 a0012c0056	a0012c0056t0001 a0012c0056t0001	a0012c0056t0001g0098 a0012c0056t0001g0098	1	268	0.0037	0	c.224 others(6): Show c.2245-1G>A		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	16/37					chr4	TogoVar
DENND2C_chr1_114577850_114675049	114654763	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	300	0.0033	0	c.-57 others(6): Show c.-573-2A>G		DENND2C	ENSG00000175984.16	transcript	ENST00000393274.6	protein_coding	1/20					chr1	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(1): Show CTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00639.hp1 others(23): Show HG00099.hp2 HG00140.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01496.hp1 HG01975.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG04199.hp1 NA19074.hp2 NA19091.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0026 others(1): Show a0001c0001 a0001c0004 a0001c0026 a0003c0007	a0001c0001t0002 a0001c0001t0016 a0001c0001t0029 others(14): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0029 a0001c0001t0031 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0079 a0001c0004t0001 a0001c0004t0009 a0001c0004t0020 a0001c0004t0027 a0001c0004t0040 a0001c0004t0041 a0001c0004t0108 a0001c0026t0048 a0003c0007t0009	a0001c0001t0002g0041 a0001c0001t0002g0107 a0001c0001t0002g0152 others(22): Show a0001c0001t0002g0041 a0001c0001t0002g0107 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0297 a0001c0001t0016g0076 a0001c0001t0029g0034 a0001c0001t0031g0293 a0001c0001t0060g0020 a0001c0001t0062g0075 a0001c0001t0063g0059 a0001c0001t0079g0280 a0001c0004t0001g0008 a0001c0004t0009g0275 a0001c0004t0020g0313 a0001c0004t0027g0141 a0001c0004t0027g0156 a0001c0004t0040g0063 a0001c0004t0041g0165 a0001c0004t0108g0206 a0001c0026t0048g0240 a0003c0007t0009g0001 a0003c0007t0009g0244 a0003c0007t0009g0245 a0003c0007t0009g0246	26	316	0.0823	8	c.623 others(20): Show c.623-10_623-3dupTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(2): Show CTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp1 NA18965.hp2 NA18980.hp2 NA18981.hp2 NA18993.hp1 NA18998.hp1 NA19011.hp1 NA19063.hp2 NA19064.hp1 NA19084.hp1 NA19085.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0024 a0002c0022 a0003c0007 a0008c0023	a0001c0001t0002 a0001c0001t0015 a0001c0001t0021 others(40): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0021 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0080 a0001c0001t0081 a0001c0002t0001 a0001c0002t0024 a0001c0002t0030 a0001c0002t0042 a0001c0003t0006 a0001c0003t0010 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0109 a0001c0003t0110 a0001c0003t0114 a0001c0003t0115 a0001c0004t0008 a0001c0004t0025 a0001c0004t0026 a0001c0004t0093 a0001c0004t0117 a0001c0004t0122 a0001c0008t0097 a0001c0024t0029 a0002c0022t0008 a0003c0007t0009 a0008c0023t0112	a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0139 others(66): Show a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0015g0036 a0001c0001t0015g0164 a0001c0001t0015g0166 a0001c0001t0021g0296 a0001c0001t0031g0289 a0001c0001t0033g0040 a0001c0001t0033g0145 a0001c0001t0034g0039 a0001c0001t0034g0055 a0001c0001t0065g0046 a0001c0001t0067g0101 a0001c0001t0068g0314 a0001c0001t0069g0042 a0001c0001t0070g0284 a0001c0001t0071g0096 a0001c0001t0072g0102 a0001c0001t0073g0095 a0001c0001t0080g0057 a0001c0001t0081g0167 a0001c0002t0001g0011 a0001c0002t0001g0251 a0001c0002t0001g0283 a0001c0002t0024g0003 a0001c0002t0024g0004 a0001c0002t0024g0007 a0001c0002t0030g0006 a0001c0002t0030g0050 a0001c0002t0042g0014 a0001c0003t0006g0261 a0001c0003t0010g0017 a0001c0003t0010g0161 a0001c0003t0010g0198 a0001c0003t0010g0200 a0001c0003t0025g0138 a0001c0003t0025g0186 a0001c0003t0038g0133 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0146 a0001c0003t0109g0080 a0001c0003t0110g0135 a0001c0003t0114g0202 a0001c0003t0115g0201 a0001c0004t0008g0278 a0001c0004t0025g0213 a0001c0004t0026g0028 a0001c0004t0093g0212 a0001c0004t0117g0013 a0001c0004t0122g0061 a0001c0008t0097g0195 a0001c0024t0029g0033 a0002c0022t0008g0162 a0003c0007t0009g0248 a0008c0023t0112g0147	69	316	0.2184	9	c.623 others(21): Show c.623-11_623-3dupTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00642.hp1 HG01993.hp1 HG02074.hp1 others(10): Show HG00642.hp1 HG01993.hp1 HG02074.hp1 HG02293.hp1 HG02809.hp2 HG02886.hp1 HG03017.hp2 HG03942.hp1 HG04204.hp1 NA18906.hp1 NA18948.hp1 NA19043.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0015 a0001c0002t0012 a0001c0003t0006 others(8): Show a0001c0001t0015 a0001c0002t0012 a0001c0003t0006 a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0001c0003t0106 a0001c0003t0113 a0001c0006t0082 a0002c0005t0001 a0002c0005t0003	a0001c0001t0015g0163 a0001c0002t0012g0049 a0001c0003t0006g0262 others(10): Show a0001c0001t0015g0163 a0001c0002t0012g0049 a0001c0003t0006g0262 a0001c0003t0006g0295 a0001c0003t0008g0214 a0001c0003t0010g0197 a0001c0003t0010g0279 a0001c0003t0013g0009 a0001c0003t0106g0058 a0001c0003t0113g0029 a0001c0006t0082g0016 a0002c0005t0001g0268 a0002c0005t0003g0116	13	316	0.0411	10	c.623 others(22): Show c.623-12_623-3dupTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(77): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02976.hp1 HG03486.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0002c0005 a0006c0017 a0007c0019 a0011c0028 a0012c0030	a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 others(31): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0023 a0001c0002t0075 a0001c0002t0095 a0001c0002t0096 a0001c0002t0101 a0001c0003t0006 a0001c0003t0013 a0001c0003t0059 a0001c0003t0105 a0001c0003t0123 a0001c0004t0047 a0001c0004t0055 a0001c0006t0001 a0001c0006t0004 a0001c0006t0017 a0001c0006t0036 a0001c0013t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0002c0005t0104 a0006c0017t0041 a0007c0019t0047 a0011c0028t0001 a0012c0030t0019	a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 others(77): Show a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0184 a0001c0002t0001g0191 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0004g0169 a0001c0002t0005g0228 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0019g0126 a0001c0002t0019g0171 a0001c0002t0021g0098 a0001c0002t0021g0125 a0001c0002t0023g0120 a0001c0002t0075g0176 a0001c0002t0095g0060 a0001c0002t0096g0306 a0001c0002t0101g0183 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0013g0015 a0001c0003t0059g0311 a0001c0003t0105g0132 a0001c0003t0123g0238 a0001c0004t0047g0097 a0001c0004t0055g0185 a0001c0006t0001g0109 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0110 a0001c0006t0017g0111 a0001c0006t0017g0112 a0001c0006t0017g0285 a0001c0006t0017g0309 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0013t0001g0231 a0002c0005t0001g0053 a0002c0005t0001g0104 a0002c0005t0001g0105 a0002c0005t0001g0113 a0002c0005t0001g0114 a0002c0005t0001g0117 a0002c0005t0001g0137 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0118 a0002c0005t0007g0045 a0002c0005t0007g0123 a0002c0005t0007g0128 a0002c0005t0007g0134 a0002c0005t0007g0136 a0002c0005t0008g0290 a0002c0005t0037g0292 a0002c0005t0104g0237 a0006c0017t0041g0122 a0007c0019t0047g0100 a0011c0028t0001g0054 a0012c0030t0019g0088	80	316	0.2532	11	c.623 others(23): Show c.623-13_623-3dupTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp2 HG00609.hp1 HG01358.hp1 others(8): Show HG00423.hp2 HG00609.hp1 HG01358.hp1 HG01928.hp1 HG02145.hp2 HG03492.hp2 HG03704.hp2 HG03834.hp2 NA18950.hp2 NA18986.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0094 a0001c0003t0006 a0001c0003t0111 a0001c0006t0022 a0002c0005t0001 a0002c0005t0007	a0001c0001t0012g0232 a0001c0002t0001g0180 a0001c0002t0002g0019 others(8): Show a0001c0001t0012g0232 a0001c0002t0001g0180 a0001c0002t0002g0019 a0001c0002t0094g0103 a0001c0003t0006g0304 a0001c0003t0111g0064 a0001c0006t0022g0038 a0002c0005t0001g0106 a0002c0005t0001g0119 a0002c0005t0001g0192 a0002c0005t0007g0099	11	316	0.0348	12	c.623 others(24): Show c.623-14_623-3dupTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0258 a0002c0005t0007g0258	1	316	0.0032	13	c.623 others(25): Show c.623-15_623-3dupTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02258.hp1 NA19009.hp1 HG02258.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0018 a0002c0005t0007 a0001c0001t0018 a0002c0005t0007	a0001c0001t0018g0281 a0002c0005t0007g0159 a0001c0001t0018g0281 a0002c0005t0007g0159	2	316	0.0063	14	c.623 others(26): Show c.623-16_623-3dupTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03195.hp2 NA18522.hp1 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0027 a0001c0003 a0001c0027	a0001c0003t0118 a0001c0027t0116 a0001c0003t0118 a0001c0027t0116	a0001c0003t0118g0310 a0001c0027t0116g0211 a0001c0003t0118g0310 a0001c0027t0116g0211	2	316	0.0063	16	c.623 others(28): Show c.623-18_623-3dupTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0199 a0001c0001t0083g0199	1	316	0.0032	17	c.623 others(29): Show c.623-19_623-3dupTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0252 a0001c0001t0084g0252	1	316	0.0032	18	c.623 others(30): Show c.623-20_623-3dupTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0263 a0001c0001t0022g0263	1	316	0.0032	20	c.623 others(31): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0022 a0001c0008t0008g0022	1	316	0.0032	25	c.623 others(36): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00558.hp2 HG03491.hp2 HG00558.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0299 a0001c0001t0004g0093 a0001c0001t0001g0299 a0001c0001t0004g0093	2	316	0.0063	26	c.623 others(37): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp1 HG00609.hp2 HG00738.hp2 others(5): Show HG00408.hp1 HG00609.hp2 HG00738.hp2 HG01168.hp2 HG02004.hp2 NA18988.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0064 a0001c0001t0066	a0001c0001t0001g0249 a0001c0001t0003g0024 a0001c0001t0003g0264 others(5): Show a0001c0001t0001g0249 a0001c0001t0003g0024 a0001c0001t0003g0264 a0001c0001t0004g0051 a0001c0001t0005g0219 a0001c0001t0005g0227 a0001c0001t0064g0267 a0001c0001t0066g0272	8	316	0.0253	27	c.623 others(38): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp1 HG02155.hp1 HG02922.hp1 others(8): Show HG00621.hp1 HG02155.hp1 HG02922.hp1 HG03492.hp1 HG06807.hp1 NA18747.hp2 NA18946.hp2 NA18948.hp2 NA18979.hp2 NA18983.hp1 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0008 a0009c0021 a0001c0001 a0001c0008 a0009c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0061 a0001c0001t0088 a0001c0001t0099 a0001c0008t0026 a0009c0021t0032	a0001c0001t0001g0130 a0001c0001t0003g0065 a0001c0001t0003g0087 others(8): Show a0001c0001t0001g0130 a0001c0001t0003g0065 a0001c0001t0003g0087 a0001c0001t0004g0094 a0001c0001t0005g0224 a0001c0001t0018g0018 a0001c0001t0061g0078 a0001c0001t0088g0260 a0001c0001t0099g0315 a0001c0008t0026g0235 a0009c0021t0032g0265	11	316	0.0348	28	c.623 others(39): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG04184.hp2 NA18947.hp2 NA18959.hp2 others(2): Show HG04184.hp2 NA18947.hp2 NA18959.hp2 NA18985.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0020 a0001c0001 a0002c0020	a0001c0001t0003 a0001c0001t0090 a0001c0001t0091 others(1): Show a0001c0001t0003 a0001c0001t0090 a0001c0001t0091 a0002c0020t0001	a0001c0001t0003g0084 a0001c0001t0003g0170 a0001c0001t0090g0250 others(2): Show a0001c0001t0003g0084 a0001c0001t0003g0170 a0001c0001t0090g0250 a0001c0001t0091g0236 a0002c0020t0001g0026	5	316	0.0158	29	c.623 others(40): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01256.hp2 HG01258.hp2 HG01884.hp2 others(1): Show HG01256.hp2 HG01258.hp2 HG01884.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0103 a0001c0001t0001 a0001c0001t0016 a0001c0001t0103	a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 others(1): Show a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 a0001c0001t0103g0303	4	316	0.0127	30	c.623 others(41): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0220 a0001c0001t0005g0220	1	316	0.0032	31	c.623 others(42): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar

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