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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Results per page.

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
GDI1_chrX_154432154_154448467	154442194	A A	ACCACGGA others(21): Show ACCACGGACCCTGAAAAGGAGGTGGGAGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0024 a0005c0008t0005g0024	1	283	0.0035	28	c.109 others(37): Show c.1099_1100insGAGCCCACGGACCCTGAAAAGGAGGTGG	p.Glu others(5): Show p.Glu367fs	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding	9/11	1201/2240	1100/1344	367/447	INFO_REALIGN_3_PRIME	chrX	TogoVar
GHR_chr5_42418439_42726878	42628209	TTTATATG others(2672): Show TTTATATGAGTGCACGATAGGGGGTGTTTTGGGCCAAAAGGTAGCTTTTT GGACATGAAAACGGAAATGCCTGTTCCCATTTAGGGCTGCAGGTCTTCAG GCTTGAGGGTGGGGCCTTTGCCCAGGAACTACCCTCTTCTACCCAGTGTT TCCCTGTCTCCTGTCCATATCACCAGTATTCACAGTCTCAAGGAGTCTTG AGAAAGTGTGCCCAAGGCCGTCAGATTCAGTTTGGTTCTGTATGTTTCAG GGAGGCAGGAATTACAGGCAAAGACATAAATCAGTACATGGAAGGTATAC ATTGGTTCACTCTGAAAAGGCAGGATGTCTTGAAGTGGGGACTTGCAGGT CATAGTTTGGTTCAGAGATTCTTTAATCTGCAGTTGGTTAAAGGAACAAA ACTGTACAGAAGCTTCGAGTTAGCAAAAAGAAATATTTAAATTAAGATAA GGATGCTATGTCAGAGTCAGCCACAAAATGACCTGTTTAGCAAGATTAAT GGCCTATAGGTGTGACTTAACCCTTGCCTTGCATGGCCTAAGGTCTTGTT TATAATTTAGTATCTTATTGCCCAAAGAGTCTATTTAGTCAGTCTTATGA TCTCTACTTTAACATTAATGCTGGTCACTTGTGCCTAAACTCCAAAGGGG AGGTATATCCAACCTGCCTTCCCATTGTGGCCAGGAACCTTTCTCTGGAG TCCCCTTGGCCAAGAAGGGGTCCATTCGGTTGGTTTGGGAAGCTGAGGAT TTTGTTTTTAGTTTACACAGGGTCATATCAGATTGTTTTGATGGGGATGA CTAATGGTTTTCTTCTCTTTCTGTTTCAGCCACAGCAGCTATCCTTAGCA GAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAGACAAGTAAG AATTTCAGTCCTTTTTCTTCCTTCAATGATATTTTCCATGTTTTAGTGTA ATTAAGCTACTATCCTTTCTCTATTTTATTTGGGATGGTAGTAACTGGAA TAGTGACTGAGTTGAAATTTTATAGGCAAGCAAAACATTTTTTAAGGATT TATTTTTTAACTTCTGATATAGTTTGGATGTTTGTCCCTTCCAAATCTCA TGTAATCCCCAATGTTGGAAGTGGAGACTGGGAGGAGATGTTTGGGTCAT GTGGGCAGATTCCTCATGAATGGTTTAGCACCCTCCTCTTTGTGCTGTCC TCACCATGAGTGAGTTCTCATGAGATCTGGTTGTTTAAAAGTGTGTGGCA CCTCCCCCTTCAATCTCTTGCTCCCACTCTCGCCCTGTGAGACACCTGCT CCGCTTCACCATGATTATAGGCTTCCTGAGGCTTTCACCAGAAGCAGATG CTAATACAGCCTGCAGAACTGTGAGCCATTTAAATCATTTTTCTTTATAA ATTACCCAGCCTCAGGTACTTTTTTATAGCAATGAAAACAAACTAATACA ACTTCTGTGCAAGGCTGCTTTTTTTTCTATTTTTTGCTTGTGCTTGGAGG TTAAGTAAGGCCAAATTAATGAAGGAGGAAAAAAGAGGAAATGATACATC ATGGATCAACAATTATTTATTGAATTTAGGAAACTGCCTCTTTTTATAAA TTCTTTTTAAAATTATTTTCATTATTATCTTGAAGTATTTATCTAAGGTT TACACTGGTAGAAAGTTAAACTTGTCTCTCCAACCAAATTGCCTTAAGCT TCAAAATTATGCCTTATTGTAAGCTCTTTCTTAACCTTAAAATGACTTTA CACATTCCCCGCTGGTCCTTTGACAATCTCCTCTTCAACCACAAGACAGA ACCCCACCATCAACTCTGTGGGGAAGCGTCTCCAAATTCTCTAGTCCTGA ACAACATTCTGCCTTCTCTGCTTCCATGGAACTTTGTCCTTTACAACATG ATAGCGTTTGCCTCCTGACATTTTAGTGTGTGTGTTAGCCCTGCATATAG AACTCACCAGATTGTGTGGACTGCATGAATGAATTAATTCTATTGAACTT TAAGGCAAAGCCTAAACTTTATGCTTCTTCTAAATCCCTTACATCTCCTA AAAAAATTCTGATCCATAGTAGTAGGTACTTGTTTAATTAAATTTTAGGG ATGGATATTTTTCATCAGTGGAAGTATATGCTAGAGTCCATATTATGCAA TAAGGGAAGGGAAGACAGTGTACCTAAATCAGTTAAGATATTGCTATTCT TGTTGTTATTCTAGAGTCACGAAATCATAATTTGAATTTTATGACTAAAT TGCAGAATTAATTTCCAATGTGAGATTTTAACATTATTTCCTTGGAGGTG ACCAAAAAGGAGAGCTGGTACTGTTTTTAACAACTGTCATTCAATTGTCA GTTGTGCCAGACCACAAATCCTTTATAGCCCTCCTGTTTAAGAAGCATCT GACATGTTAAGCTGCTCCCTAATTAACACAGAGGTTGTAAAAGAAGTGGC TGTTTGGTTCTGTTTGGGTTTCCCAGCCAGTATATTCCAAAGCCTTTTTT CACTCAACAGATGAGTTATGTGCTTTATATTCTGTAAGGAAATGAGAAGT AATCAGTTGAAAATGTGTTACTAATGGTACATGCTTCACATTGAAACCAT CCTCCTGACACAAACATAATACTTTGCCCTCCACTGTCCCCCAAAGTGGC AGTAGGATTTCTCTAAGTAATTTTCTTTAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0008 a0001c0012 others(2): Show a0001c0001 a0001c0008 a0001c0012 a0004c0004 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0008t0003 a0001c0008t0007 a0001c0012t0002 a0004c0004t0011 a0004c0004t0012 a0004c0004t0016 a0004c0004t0017 a0004c0004t0018 a0004c0004t0029 a0004c0004t0030 a0004c0004t0031 a0004c0004t0032 a0004c0004t0033 a0008c0009t0001 a0008c0009t0006	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(87): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0129 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0005g0025 a0001c0001t0005g0046 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0014g0087 a0001c0001t0014g0104 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0023g0099 a0001c0001t0028g0108 a0001c0008t0003g0150 a0001c0008t0003g0162 a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0012t0002g0115 a0004c0004t0011g0001 a0004c0004t0011g0002 a0004c0004t0011g0139 a0004c0004t0011g0163 a0004c0004t0012g0007 a0004c0004t0012g0009 a0004c0004t0012g0130 a0004c0004t0012g0177 a0004c0004t0016g0023 a0004c0004t0016g0027 a0004c0004t0016g0028 a0004c0004t0017g0015 a0004c0004t0017g0053 a0004c0004t0018g0152 a0004c0004t0029g0118 a0004c0004t0030g0149 a0004c0004t0031g0117 a0004c0004t0032g0004 a0004c0004t0033g0006 a0008c0009t0001g0112 a0008c0009t0006g0081	90	210	0.4286	-2679	c.71- others(15): Show c.71-815_136+1798del		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
GOLGA6L6_chr15_20526856_20546800	20535014	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show HG00408.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0010 others(13): Show a0001 a0006 a0010 a0011 a0014 a0015 a0017 a0018 a0022 a0029 a0030 a0031 a0032 a0036 a0040 a0043	a0001c0001 a0001c0005 a0001c0019 others(23): Show a0001c0001 a0001c0005 a0001c0019 a0001c0034 a0001c0035 a0001c0038 a0001c0039 a0001c0047 a0006c0011 a0006c0016 a0010c0013 a0010c0029 a0011c0010 a0014c0015 a0015c0017 a0017c0041 a0017c0042 a0018c0020 a0022c0024 a0029c0046 a0030c0045 a0031c0036 a0032c0037 a0036c0040 a0040c0051 a0043c0055	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0005t0004 a0001c0005t0017 a0001c0019t0001 a0001c0034t0001 a0001c0035t0001 a0001c0038t0016 a0001c0039t0001 a0001c0047t0001 a0006c0011t0001 a0006c0011t0004 a0006c0011t0024 a0006c0016t0004 a0010c0013t0007 a0010c0029t0007 a0011c0010t0001 a0014c0015t0007 a0015c0017t0009 a0017c0041t0001 a0017c0042t0001 a0018c0020t0004 a0022c0024t0007 a0029c0046t0001 a0030c0045t0001 a0031c0036t0001 a0032c0037t0001 a0036c0040t0018 a0040c0051t0012 a0043c0055t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0004g0064 a0001c0001t0014g0075 a0001c0001t0015g0077 a0001c0001t0020g0079 a0001c0005t0004g0005 a0001c0005t0004g0091 a0001c0005t0017g0092 a0001c0019t0001g0059 a0001c0019t0001g0071 a0001c0034t0001g0073 a0001c0035t0001g0076 a0001c0038t0016g0078 a0001c0039t0001g0081 a0001c0047t0001g0086 a0006c0011t0001g0112 a0006c0011t0004g0110 a0006c0011t0004g0121 a0006c0011t0024g0113 a0006c0016t0004g0026 a0006c0016t0004g0114 a0010c0013t0007g0012 a0010c0029t0007g0053 a0011c0010t0001g0010 a0014c0015t0007g0013 a0015c0017t0009g0039 a0015c0017t0009g0040 a0017c0041t0001g0069 a0017c0042t0001g0072 a0018c0020t0004g0088 a0018c0020t0004g0089 a0022c0024t0007g0032 a0029c0046t0001g0085 a0030c0045t0001g0084 a0031c0036t0001g0062 a0032c0037t0001g0065 a0036c0040t0018g0087 a0040c0051t0012g0120 a0043c0055t0004g0122	94	214	0.4393	0	c.142 others(4): Show c.1420G>T	p.Glu others(4): Show p.Glu474*	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1511/4013	1420/2175	474/724		chr15	TogoVar
GPC4_chrX_133295103_133420489	133324400	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0004 a0003c0009t0001g0004	1	221	0.0045	1	c.455 others(4): Show c.455dupT	p.Asn others(5): Show p.Asn154fs	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	3/9	979/4959	455/1671	152/556		chrX	TogoVar
GPC4_chrX_133295103_133420489	133324404	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0004 a0003c0009t0001g0004	1	221	0.0045	1	c.451 others(4): Show c.451dupG	p.Val others(5): Show p.Val151fs	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	3/9	975/4959	451/1671	151/556		chrX	TogoVar
GPC4_chrX_133295103_133420489	133324463	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0004 a0003c0009t0001g0004	1	221	0.0045	1	c.392 others(4): Show c.392dupT	p.Leu others(5): Show p.Leu131fs	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	3/9	916/4959	392/1671	131/556		chrX	TogoVar
GPR143_chrX_9720346_9770847	9759416	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0173 a0005c0004t0001g0173	1	270	0.0037	-1	c.370 others(4): Show c.370delC	p.Gln others(5): Show p.Gln124fs	GPR143	ENSG00000101850.13	transcript	ENST00000467482.6	protein_coding	3/9	400/1645	370/1215	124/404		chrX	TogoVar
GPR173_chrX_53043789_53085615	53077343	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0040 a0008c0017t0040	a0008c0017t0040g0077 a0008c0017t0040g0077	1	208	0.0048	1	c.723 others(4): Show c.723dupT	p.Ala others(5): Show p.Ala242fs	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	2/2	1517/4787	724/1122	242/373	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53077684	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0040 a0008c0017t0040	a0008c0017t0040g0077 a0008c0017t0040g0077	1	208	0.0048	-1	c.106 others(5): Show c.1068delC	p.Cys others(5): Show p.Cys357fs	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	2/2	1861/4787	1068/1122	356/373	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.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 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0001c0012t0001g0055 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	426	448	0.9509	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333		chr14	TogoVar
GPR78_chr4_8575392_8595023	8582572	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG02080.hp2 HG04115.hp1 others(16): Show HG00621.hp1 HG02080.hp2 HG04115.hp1 HG04199.hp2 NA18965.hp2 NA18966.hp1 NA18978.hp2 NA18985.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp2 NA19006.hp2 NA19012.hp1 NA19059.hp1 NA19062.hp1 NA19063.hp2 NA19068.hp2 NA19077.hp2 NA19090.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 others(8): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0007 a0004c0004t0009 a0004c0004t0015 a0004c0004t0018 a0004c0004t0019 a0004c0004t0049 a0004c0004t0062 a0004c0004t0071	a0004c0004t0001g0009 a0004c0004t0001g0175 a0004c0004t0002g0001 others(15): Show a0004c0004t0001g0009 a0004c0004t0001g0175 a0004c0004t0002g0001 a0004c0004t0002g0002 a0004c0004t0002g0107 a0004c0004t0003g0006 a0004c0004t0003g0021 a0004c0004t0003g0074 a0004c0004t0003g0140 a0004c0004t0007g0022 a0004c0004t0009g0015 a0004c0004t0009g0131 a0004c0004t0015g0032 a0004c0004t0018g0018 a0004c0004t0019g0006 a0004c0004t0049g0136 a0004c0004t0062g0145 a0004c0004t0071g0103	19	462	0.0411	1	c.712 others(4): Show c.712dupC	p.Arg others(5): Show p.Arg238fs	GPR78	ENSG00000155269.12	transcript	ENST00000382487.5	protein_coding	2/3	1304/4343	713/1092	238/363	INFO_REALIGN_3_PRIME	chr4	TogoVar
GYG2_chrX_2823930_2887818	2843234	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0015 a0015	a0015c0011 a0015c0011	a0015c0011t0002 a0015c0011t0002	a0015c0011t0002g0185 a0015c0011t0002g0185	1	316	0.0032	1	c.30d others(3): Show c.30dupA	p.Leu others(4): Show p.Leu11fs	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/11	205/3192	31/1413	11/470	INFO_REALIGN_3_PRIME	chrX	TogoVar
H2AB1_chrX_154879972_154890558	154885301	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0003 a0007c0006t0003	a0007c0006t0003g0000 a0007c0006t0003g0000	1	318	0.0031	-1	c.256 others(4): Show c.256delC	p.Leu others(4): Show p.Leu86fs	H2AB1	ENSG00000274183.2	transcript	ENST00000620016.2	protein_coding	1/1	334/587	256/348	86/115	INFO_REALIGN_3_PRIME	chrX	TogoVar
HLA-DQB1_chr6_32654467_32671657	32664861	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0005 a0009 a0010 others(2): Show a0005 a0009 a0010 a0011 a0013	a0005c0006 a0005c0019 a0009c0010 others(3): Show a0005c0006 a0005c0019 a0009c0010 a0010c0009 a0011c0011 a0013c0013	a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 others(6): Show a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0011c0011t0009 a0013c0013t0011	a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 a0005c0006t0004g0026 a0005c0006t0004g0054 a0005c0019t0004g0056 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0011c0011t0009g0011 a0011c0011t0009g0029 a0011c0011t0009g0053 a0013c0013t0011g0013 a0013c0013t0011g0055	102	402	0.2537	0	c.316 others(3): Show c.316G>T	p.Glu others(4): Show p.Glu106*	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/5	366/1605	316/786	106/261		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584364	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(21): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(22): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(76): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	131	208	0.6298	0	c.115 others(3): Show c.115C>T	p.Gln others(3): Show p.Gln39*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	221/1223	115/801	39/266		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584366	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(21): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(22): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0013c0014 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(23): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0013c0014t0013 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(77): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0013c0014t0013g0011 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	136	208	0.6539	0	c.113 others(3): Show c.113G>A	p.Trp others(3): Show p.Trp38*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	219/1223	113/801	38/266		chr6	TogoVar
HSD17B13_chr4_87298794_87327882	87310240	T T	TA TA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01168.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02280.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA20752.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0010 a0001c0001 a0006c0008 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0241 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0353 a0001c0001t0002g0126 a0006c0008t0001g0082 a0006c0008t0001g0085 a0007c0010t0001g0036	96	442	0.2172	1	c.812 others(6): Show c.812+2dupT		HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	6/6					chr4	TogoVar
HSD17B2_chr16_82030253_82103534	82098435	A A	G G	stop_lost stop_lost	HIGH	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(17): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG01109.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02451.hp1 HG02559.hp2 HG02809.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp1 NA18943.hp2 NA18944.hp2 NA18978.hp1 NA19006.hp1 NA19043.hp2 NA19088.hp1 NA19091.hp2	a0000 a0000	a0000c0002 a0000c0004 a0000c0002 a0000c0004	a0000c0002t0001 a0000c0002t0002 a0000c0004t0001 a0000c0002t0001 a0000c0002t0002 a0000c0004t0001	a0000c0002t0001g0306 a0000c0002t0001g0308 a0000c0002t0001g0314 others(16): Show a0000c0002t0001g0306 a0000c0002t0001g0308 a0000c0002t0001g0314 a0000c0002t0001g0316 a0000c0002t0001g0317 a0000c0002t0001g0329 a0000c0002t0002g0041 a0000c0002t0002g0042 a0000c0002t0002g0123 a0000c0002t0002g0127 a0000c0002t0002g0168 a0000c0002t0002g0169 a0000c0002t0002g0171 a0000c0004t0001g0010 a0000c0004t0001g0152 a0000c0004t0001g0196 a0000c0004t0001g0197 a0000c0004t0001g0198 a0000c0004t0001g0199	20	366	0.0546	0	c.116 others(4): Show c.1163A>G	p.Ter others(11): Show p.Ter388Trpext*?	HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding	5/5	1335/1434	1163/1164	388/387		chr16	TogoVar
HSFX3_chrX_149543210_149554924	149548582	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0016 a0008c0011t0001g0016	1	332	0.0030	-1	c.811 others(4): Show c.811delG	p.Glu others(5): Show p.Glu271fs	HSFX3	ENSG00000283697.3	transcript	ENST00000431993.4	protein_coding	2/2	883/1256	811/1002	271/333		chrX	TogoVar
HSFX3_chrX_149543210_149554924	149549833	T T	TTCAA TTCAA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0016 a0008c0011t0001g0016	1	332	0.0030	4	c.19_ others(9): Show c.19_20insTTGA	p.Glu others(3): Show p.Glu7fs	HSFX3	ENSG00000283697.3	transcript	ENST00000431993.4	protein_coding	1/2	91/1256	19/1002	7/333		chrX	TogoVar
HSFX3_chrX_149543210_149554924	149549834	C C	A A	stop_gained stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0016 a0008c0011t0001g0016	1	332	0.0030	0	c.19G others(2): Show c.19G>T	p.Glu others(2): Show p.Glu7*	HSFX3	ENSG00000283697.3	transcript	ENST00000431993.4	protein_coding	1/2	91/1256	19/1002	7/333		chrX	TogoVar
IGSF1_chrX_131268506_131294306	131275121	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0166 a0012c0027t0001g0166	1	328	0.0031	-1	c.334 others(5): Show c.3349delG	p.Ala others(6): Show p.Ala1117fs	IGSF1	ENSG00000147255.19	transcript	ENST00000361420.8	protein_coding	17/20	3509/4461	3349/4011	1117/1336		chrX	TogoVar
IGSF1_chrX_131268506_131294306	131275143	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0166 a0012c0027t0001g0166	1	328	0.0031	1	c.332 others(5): Show c.3327dupA	p.Gln others(6): Show p.Gln1110fs	IGSF1	ENSG00000147255.19	transcript	ENST00000361420.8	protein_coding	17/20	3487/4461	3327/4011	1109/1336		chrX	TogoVar
IGSF1_chrX_131268506_131294306	131275215	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0166 a0012c0027t0001g0166	1	328	0.0031	-1	c.325 others(5): Show c.3255delT	p.Gln others(6): Show p.Gln1086fs	IGSF1	ENSG00000147255.19	transcript	ENST00000361420.8	protein_coding	17/20	3415/4461	3255/4011	1085/1336		chrX	TogoVar
IGSF1_chrX_131268506_131294306	131275245	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0166 a0012c0027t0001g0166	1	328	0.0031	-1	c.322 others(5): Show c.3225delC	p.Met others(6): Show p.Met1076fs	IGSF1	ENSG00000147255.19	transcript	ENST00000361420.8	protein_coding	17/20	3385/4461	3225/4011	1075/1336		chrX	TogoVar
IGSF1_chrX_131268506_131294306	131275552	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0166 a0012c0027t0001g0166	1	328	0.0031	1	c.310 others(5): Show c.3109dupA	p.Ser others(6): Show p.Ser1037fs	IGSF1	ENSG00000147255.19	transcript	ENST00000361420.8	protein_coding	16/20	3269/4461	3109/4011	1037/1336		chrX	TogoVar
IGSF1_chrX_131268506_131294306	131275559	G G	GCA GCA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0166 a0012c0027t0001g0166	1	328	0.0031	2	c.310 others(11): Show c.3102_3103insTG	p.Arg others(6): Show p.Arg1035fs	IGSF1	ENSG00000147255.19	transcript	ENST00000361420.8	protein_coding	16/20	3262/4461	3102/4011	1034/1336		chrX	TogoVar
IGSF1_chrX_131268506_131294306	131275762	G G	GT GT	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0166 a0012c0027t0001g0166	1	328	0.0031	1	c.289 others(5): Show c.2899dupA	p.Thr others(5): Show p.Thr967fs	IGSF1	ENSG00000147255.19	transcript	ENST00000361420.8	protein_coding	16/20	3059/4461	2899/4011	967/1336		chrX	TogoVar
IGSF1_chrX_131268506_131294306	131276014	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0166 a0012c0027t0001g0166	1	328	0.0031	1	c.284 others(5): Show c.2842dupA	p.Thr others(5): Show p.Thr948fs	IGSF1	ENSG00000147255.19	transcript	ENST00000361420.8	protein_coding	15/20	3002/4461	2842/4011	948/1336		chrX	TogoVar
IGSF1_chrX_131268506_131294306	131276034	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0166 a0012c0027t0001g0166	1	328	0.0031	1	c.282 others(5): Show c.2822dupG	p.Ser others(5): Show p.Ser941fs	IGSF1	ENSG00000147255.19	transcript	ENST00000361420.8	protein_coding	15/20	2982/4461	2822/4011	941/1336		chrX	TogoVar
IL17F_chr6_52231681_52249500	52238729	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00438.hp1 NA18942.hp2 NA18969.hp2 others(2): Show HG00438.hp1 NA18942.hp2 NA18969.hp2 NA19006.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0018 a0001c0001t0001g0056	5	432	0.0116	0	c.254 others(5): Show c.254+1G>T		IL17F	ENSG00000112116.11	transcript	ENST00000336123.5	protein_coding	2/2					chr6	TogoVar
ITGAE_chr17_3709628_3806188	3756982	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	302	0.0033	0	c.117 others(6): Show c.1171+2T>A		ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	10/30					chr17	TogoVar
KCNJ16_chr17_70070225_70140608	70100767	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00733.hp2 HG01099.hp2 HG01109.hp1 others(47): Show HG00733.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01952.hp1 HG01981.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp2 NA18949.hp2 NA18962.hp1 NA18991.hp2 NA19005.hp1 NA19006.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0011 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0004t0001 a0002c0002t0004 a0002c0002t0006 a0002c0011t0030 a0005c0010t0004	a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0243 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0243 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0002g0008 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0320 a0001c0001t0003g0292 a0001c0001t0003g0297 a0001c0001t0007g0049 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0010g0313 a0001c0001t0012g0302 a0001c0001t0012g0308 a0001c0001t0015g0306 a0001c0001t0021g0294 a0001c0001t0023g0323 a0001c0001t0024g0319 a0001c0004t0001g0309 a0002c0002t0004g0009 a0002c0002t0004g0051 a0002c0002t0004g0142 a0002c0002t0006g0322 a0002c0011t0030g0290 a0005c0010t0004g0288	50	330	0.1515	0	c.-19 others(6): Show c.-191+1G>A		KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3					chr17	TogoVar
KDM4A_chr1_43645149_43710518	43660291	CA CA	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0002g0019 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0284 a0001c0001t0003g0242 a0001c0001t0003g0288 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0105 a0001c0001t0007g0276 a0001c0003t0001g0287 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0328 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026 a0001c0005t0001g0027 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0010t0001g0022 a0003c0004t0001g0263 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0270	191	370	0.5162	-1	c.315 others(6): Show c.315-2delA		KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding	3/21				INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL34_chrX_21649690_21663330	21656886	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19062.hp1 NA19006.hp1 NA19062.hp1	a0006 a0010 a0006 a0010	a0006c0006 a0010c0011 a0006c0006 a0010c0011	a0006c0006t0002 a0010c0011t0025 a0006c0006t0002 a0010c0011t0025	a0006c0006t0002g0000 a0010c0011t0025g0000 a0006c0006t0002g0000 a0010c0011t0025g0000	2	265	0.0076	1	c.902 others(4): Show c.902dupC	p.Gln others(5): Show p.Gln302fs	KLHL34	ENSG00000185915.5	transcript	ENST00000379499.3	protein_coding	1/1	1444/3641	902/1935	301/644		chrX	TogoVar
KLRC2_chr12_10425599_10441010	10429008	GTGATGCC others(11995): Show GTGATGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACCAGAACTGG CCTATTTCTAGATTAAACATGGCAATACCATTATGGTCTTTACAGTTATT TAGAGGCAATAAAACTATTTTTCATTACATTTTAATGTCTATATGAAATA GAAAATTCATACATACTCATTACCAAATGCAGTACCTCAAATAGAAATCT GAGTATATCCCACCATGTATTAAAGAAATTCAGTTTAGACATAAACTTTC CTAGAAAAATAGTCTACAAACTCAGATGGCATTACTAGTGAATTATAACA TTTAAAAATAAAGCAGTACTCTCAACAAATGCTTCTAGGTTATAGAAAAA GAGAAATTCTTCCCAAGATAGCCTTGATATCAAAACCTTTCAAGTATATA GCTATGAATAAAAACATGGTCAAATATCCTTGTGAACATGGATGAAGAAA CAAATCTTACCCTACATAAAATATATATGCGCTAATTTTTTTTTATTCAT CTTTTTTGAGACAGAGTCTCCCTCTGTCGCCAGGTTGGAGTACAGTGGTG CCCTCTCGGCTCACTGCAACCTCCGACCCCTGGTTTAAAGTGATTCTCCT GCCTCAGCCTCTCGAGTAGCTGGGACTATAGGTGCGCACCACCACGCCCA GCTAATTTTTGTATTTTTAGCACAGATAGGGTTTCAGCACGTTGGCCAGG ATGGTCTCGATCTCTTGACTTCATGATCCACCTGCCTCAGCCTCCCAAAG TGCTGGGATTACAGACGTGGGCCACCACACCCGGCCAGCACTGATATTTT ATGAGGGAAATATACAATGATCATCATGGATCTATTTCAGAAACAAAGGC TGGTTTAACATTTGAAAAAATAAAAGTTTATAAAATGTTATATAAACAAA ACATATATCATTCCAACGGATACAAATTAATAAAAATGTTACAATTGATA AAATCTATTAGAAAATAGTATTATAAAACTGCTTCGATATGAGAAAGATA GGATGCAAAAAACACCAAGCTTTTTAAATATGTATAACATGTTGAAGTAT TTTTTGCCAAAACCAGAAAATGATGCATATGATCCACAAAGAACTTTGAT TGTGCCTTCTATTCAACTATGGGTATAAAACCCTAGCCAGTGAAAATAAA TGAAAATAAAACTAAGTTATAGCACATGGATTAAAAAAAATAAAAGTGTG ATCATTTGCAGATAAAATTGCTCGTTATATAGAACACCCAGAAATAAATC AATAGTTGACATAATAGATTTAAATATATAAAATCAGTGGAATAAGTAGA TATAAAATCAAAATGCAGACATCAGTTGTATTTCTATTTATAACAACAAA AATTACTAAAGGGAATTTTAGAATCAGGATGCCATTTACAAAAGCATAAA TGTAAAATACCTACATTTCTGTATGACTTCAATCCCCCAAAATACAAAAT ACAAGAGAGAGAAATTAAAGATAACACAGTACATTGAAGGAAACACTTTA TACTGATTAGAAAAGTCAATATTATAAAGAAGCTAATCTTTAAAAATTAC TTTAGAGAATAAATGCAGTCATAAACAATCCCATCAGAGGCTTTTTTTTT TCTGGATAGCTTTATTGAAGTGTCATGTACAAAGCATACATTTCATGCAC TTAAAATGATTAAAAATCAATGATGTTTAGTATATTCGCAGAGTTACAAC CATCACCACTACTGAAATTTAGAAAGTTTTCATCACGACACAAAGAAACG TTCTATCAATTAGTGGTCATCTCCTATTTCAACCTCCCTGAGACATTGGC AACCACTATTCTACTTTCTGTCTCCATGGGTTTGACTGTTCTTGGTACTT CCTATAAGCTGACTCACATAACATGCAACTTTTAGAAAGGCTGAAAACCA CAAATACCATGTTGAGCAAAATGAGCCCGACACAAATGCTAGGATGTCTG TACTTTAGTAATTGTGTGCATCCTATTTCAATAATTGATTTAGAATTTTT GTATCAGAGCAAATAACATAATTCATTTTCAGATTTATGCAATCATAATA TTTCTATTTTAAGAAATATAAAATGTATCTGATGCACTGCAAACGCAAAT GCTTTACTTCTAAAGCTTATGCTTACAATGATATATCATTGAAGATCCAC ACTGGGCTGATTTAAGTCGATTTACTTGTAGCACTGCACAGTTAAGTTCA GCATTATCTGAGTCTTTTATCCTGTAATGGAGAAAAATCCATTTTCTGTT ACATTTTAAGCAAATGATTCATGAGACGAAAGCATTTTCCATGTACTGTA AGAAAAGAATTTCATGGAAAAGGGTAATTAAATTTTTCATAATATTAGTA AGAGTCATTATTCTGAACACTCAACAGAGTAGTCCCTCTTCATCCACGAG GGATATGTTTCAAGACCCCAGTGGATGCCTGAAATGGCAGATAGTGCAGA ACCTATAGAGAGATTATGTTTTCTCTACACATTCATAACTGTGATAAAGT TTAATTTATAAATTAGGCACAATAAGAGATTGACAACAATAACTAATAAT AAAAAAATTATAGCAATATGCCAACAGCACTATTATTGTGCTTTGAGGAT ATTCTTAAGTAAAAAAGTAAGCGTGGCTTTTTAATAAAAACAAGCACTGC AGTTCCCTGATAGTCCAGCTCGAGGTTGTCCAACTCGCTGCCCATGGGCC GCACGTGACCCAGGACAGCTTTGAATGCGGCCCAACACAAATACGTAAAC TTTCTTAAAACATTCTGTGATTTTTTTTTTTTTTTTAGCTCGTCAGCTAT CGTTAGTGTTAGTGTATTCTATGTGTGGCCCAAGACTATTCGTCTTCTAA CGTGGCCCACAGAAGCCAAAGATGGGACACCCCTGGTCCATCTGATAACC AAGAAGGTTACTAGCAGACCAATGAGCGGTTGAAATATATGGACTACTAT GGTCTATTGTAAAATATTTATATCAACATTTCACTAACTTTCCACATCTT TCTTCATGTCAATGATTCCACATAAATTTATTCATATTATTCTTCTGAAT TTATCCTTTATATATATTTTTTATATAGCGCCATACAAAAGAACTTACTT ATGTTTGAAAGCCAAACCATTTATTGTCACCCATGGATGATGACTGCTGT TACGAAACACACCAATCCATGAGGAAGGTAAAATGCTGGCCAGAAATTTC TAAAAGAAAAGAAATAATTTTCACTTAAATAATAATTATGAAAACATTAC AAAAACAATATATTAAAGTTGAAAACCACTATTTGCAGTGCCAAAAACTT TCATAAATGTTTGAATTTTTTATTTAAATGAACTCTTCAACGTTTATACT TAGTACTTTCATTCTTATTCTCATGTTAATAAAGACATTTTAATTCTTGC AATGTAATAGTTACTCCAATTAACAGAATAAACGCAGGAAGGGTTTTAAT AAGTTTCCTGATACTGTGCATTCATTCCTCCAGATACTGTGACTAAATCA ATCTATTTTTGTGCTATATTTCTCAGAGTTGGAGATTTAGAAGGGAATTG AGGGGTTGTCATTCAGAAATAGATGACATGGAAGCTACAGATTGGGTTTT CTGGGTACCACACCATTCTTTAACTAGATAAGCCCTCAATTTTTATCCGA TTCGGTTTTTGCGGAATAACAGGGGTCCTGGCCAGGTGGTGTAGACTCGT CTCTCTCTGCTACTCCCGACTAAAAACAACTATAAACTCTGGGATTAATG AAAGACAAAAGCAATGGAGAACTCTGAAAGGTGGAAAGAGAAAGATGAAA TTGTCTGGGACCCTAGCATCAGGGATCAACCAAGTGTCCGAGTGAGCATG TTAAGTCCTCCACACGACAGAAGAAGGTGACCTAGGCCTGCTGTTTCCCT ACACCCAACCTGGCAATAGGAGGAGGGTATCGAAGGAGAGTCCCCTCCAC AATACCAGGCAAGGCTGGTGCCACTGGCAAGGATGATCTACCAGGAGACC TGCTACCAATATGGAGCTAGAGAAAGTGCTTCCTTCTCATACCAAGAGAC ACCAGGATGGCTGTGGATGAGGAGGATCAGCAAAGGGACCCCATGACTAA CAGTGCACCGTAAACCACCTAGGGTCCTCTTTGTCCCTGAGGGCATGAGA CCCACTTCCCCATCCAGAGACAAGGACTCAATGGATTCTTACTGTTCTTT GTACATAGTACAGCAGTGAACAGTAACATACTACTGATAACTGCAATAAT ATGGAGGAATTGCACAAATATCAGATAGGATTGAAAAAGACATGAAATTC ACACTGCTTGATTCCCTTTATATAAATAAATTCAAGAACAGGCAATCATT ATTTATAATATTAAAAGTCAAGACTGCGTTTTGGAGAGGAGTCAGGATAA GTGATGAGGGCATACACAGGGGTGGAACTGCTAGAGCTGGAAACTTTTAT TTCATGATCTGACTTGTATCACATGCATTCATTCACTTTGTGATCAATCT GCATGACCAGATGATATCATGCCCGATAAAATTAGATAGCAAAATTTATT GTGGATTCAAAGCACTTATAGAAGCATGGTTTTCCTTGAAAAACAAAAAC TGAAAATAAATGTACATTAGCAGTATATAACTTTAAAAACATTATTAAGT CAATCAATTGAATATTACATACACTTGAAAATATATGAGATAAATATATG TACACACATATGGATGTTTTCTACAAATGTATTATTCACTGAAGGAAGCT TTTCATAAAATGTTTGAAACATTTACATCTTACCATTTCTTCTTCATTAT CTATAGAAAGCAGACTGGAGTTCTTCGAAGTACAGGCCAGCAAACTCTCT TCCCAAGTTCTTCTTTCCTTACCAATGTAATAACAACTGTTGGAATATGT AATCCACTCCTCAGGACAATGGCCACAATGACGTGCTAATAAAGATATGA ATTACTATCTAGACCAATATGAATTTTTAAAAATGAAAATTAGTTCACAT ATTTCAACAGTATAAACATATATGTGCTTAACATATTTACGCATCCTTAC AGGCTTATAAATGTATATTTTTAATAACTGAGTCAGTCATACACACATGC ACAGACAAGGGTTAGCCTCTCCTCCCTAATTGTGTTCCCATATAAAGCAA ATGAACAAACAAAAATACACTCTACACATGTGTTGAACATCGCTGATACA CAACTGCTTTTTTAGAATAGTAAAATTATTTATTTGGTATCATCTCACAG CAGTAGGAAACCTCTGTTAATTGGGAGAAAGAGGGTAGAATGATTTTAAG TGAGTATTTCTACTCACTGGAGAAAAGGAAATGCTGCCTCATAATCTTTC TTTATAAATATTTATGGCTGAATTTATGGCTTATTTTCTGCAAAAATGCC ACTATTCTTTTACATGCCTTAAAACAGACACAAAATATAAATTGTACTAA TATCAGAACATTGAAAATAAAAATGTACCTTTCTGCGTTCTTGTATTCGG GGAAAAATTGTTCTGCTCCAGGACTGTAATAGAAAAATTAAAATGATTTT TATAAAAACTGATATCTAGATAAACCATAACGAGTTTAGTTTCTTACTTT GAAACTTTGTGTGTTATTTAAAATGGGGAGAATCTTTAATAAAATTAACT TTTTCTATAAAAATATATAAAGTAATAGACCTTTGAAATAAACATTTTTA AAGACTTTAGCACAAACTTCACCATCTCTTGTAGTATTTGATGTAACCAC TTTCAAAAATTAATTTGTTTTTCTAAATACTTTTCTTCTATAGCATGCCT TTGAATTATGAAATCAGAAAATATCTTTGTGTGTGTATGTATATACATAT ATATAGATTACACACAAAAAATAAACACATGTTCTCTACAATGATTTTGT TATTTATGTTGTGAAAAATTCAGAATAACCATATTACTTTTGGTTCCAAA TTGTACTAATATCAGAACTTTGAAAATAAAAATGTACTTTTCTGGGTTCT TGTATTTGGGGAAGAATTGTTCTGCTCCAGGACTGTAACAGAAAAATTAA AATGATTTTTATAAAAAGTAATATTTAGATAAACCATAATGAGTTTAGTT TCTTACTTTGAAACTTTGTGTGTTATTTAAAATGGGGACAATCTTTAATA AAATTAACTTTTTCTATAAAAATAAATGAAGTAATAGATCTTTGAAAGAA ACAGTAAAATAAGAGTTCTATTCTTCAACAGTATGAAATATTTTGAGGCA CTTCCAAGCATTAAAGTAAAACGTTCCCTTCTAATCTTTCAAGAATATGC TTACAAGGAATAAGAACTATTGTTTTTAACACAGTGGCCATCAGGACAAT GCAAATGATTCCTAGGACCTCGGCAGTGAGCTTCTCTGGAGGTGGCAGTA AACCTGCAGGGAGAGAAATAGAGGCACTGAGAGAGGGGAGATAGAGAGTT GATTAGGATTACATACTAGAGAATTACATACTAGAGAACCCACATGCACA GGGAAACATAATGATAAACTCTGGCCTCTAAATCTACATCTACTCTAGTA ATCTTTCTCTCAGAATATACCATTTCATTTTCAGTAAATATAATGTTCCA TGAGTGGACCGCAGATTACAGTTGAACAATGCCCGAATAAAATTAGTCTT CTGATTTCATATTAGAATTTTAGATCCCAATTATGAACTCCGATTCTCAC AAGTGCAAAATATTCCCTAATCTTTCCTCACCCTTCTGCATTCAACTGCA CATCCTAGAACAATAATATTGAAGATATATTTAATGTTTTACCTTGGCAG TCATATATTTTATCAATCCCTTGATGATTCAGGGAAGGATTTTGAAGATT TAATTCTACTTGGAATATTTCCTGTTCGGTTCCTGAAATGGAGCTTTTAT TGCCTTTAGGTTTCCTTTGCTGCCGCTTTGGGTCCTGGGCCAGACTCACT TCTGAGAAGGTTCCTCTTTGTTTATTCATCTCTGCAGCTGTGTGATGTGA GGGACTGTGCTCTATGATAACTGCACTTAAGAAGCTATAAATGGTGTATA TTTTGACAGGATCCCTGGTATAGGCAATGTGCATGTGTTGGGGCTGAGTA ATAATGTTTACTTTGCTGTTAACCAATGTAAAATTCTGCTACTAATTTCC TAAAGCTTTAAACAAAAATCACACGATATAATTGGCAATTTTTTAGATGT ATTCTGTATTTGACATAATATTACTAGTGGGAACAATAAAAACATTAAAC TTATGAGAACTAGGAAGTTCATGAAAAATTGGTATTAAATTAAGGTTAGA TTCTTCAAAAATGTTTAACACCAATAGACTGCATATGTCAACAATCAAAA TACTGTATTTAGAAATACACAAATTTTATCATAGTTTTAAGAGTCATTGA TGGTTAAGGATTGTGTGCCATAAGATAAAATAGTTCTGTCAGCATATAGA GTATCTTCTTATACTAAAATACATTGTTAGTGACTTACATTCATTTATTA AAAGGACCTGAGGTATTGTCAAATGATTTTTTTTCTAAATTAGGAAATCA GAAAAATCATTAAAATTTTAAAAATATATCTTGTAAAACATTACATTACT GTATGCATAAATATTATTGAAAACGTATTTTTAAATTGCTGCTTTTACAC AAGAAATTGGTAATTGATTTAATGACTAAAATAGGAAAACTTAAAATGAT AAATAAACGTGTGGGCCGTCTATGGAAGAATAGTGTCCAATCAAACTTTC AGAAAGCTCCTATGATTGTATAAGTCAGTGAGGGTTGCTTTGGTTGTATA AGTAATTGTAATAGTTCAGATAATGTAATTTAATAATCTAGTCAATGAGC TCTGTAGTCAGTGAGACTACAATTAATTCTAGCTTTGCAAGTTGTAATAT GTGACCTGTACTAAATTACTTAGTGTCTACTAACCTAGTTTACTAATCTA CATTGGGAAAAATAATTTATAAAGTATAATGTATGTAAAAAACTAAACAC ACAACCTGGCACATGTTACCACTGAATACATAATAGATATTTCAACTATT TTTAACACAATTGCCATTTTATTATTTCTGATTTGCATTAGAGTGTGTTA AAATAACTCATTAATTAGGCGTCTCATGTCAGTGTGGTACATCTTTTTTG CAATGTTTGGTTCAATTGTTTTAAGTCTTCCAATTGTTTATAATTAAGGT CAGATTTGCATTTTATGGAAATGATTTCATCCTTACTTTTATTAAAAATT AAAACTGCTTTCATGAAATCTAGGTGTGTGATTGAGAATTAATGTTTGAC ATTCACAATTTGATGTATCCATATTAAAAATTTATTTTTAAAGTTTGGTC TAAATATAATATACAAAATGTAATGGTTACAAAATCCAAAATTAATTGTT CATTGTCATGATGGTTATGGGTTTCACTCTAAATTACATGGATTGGCAAA CCTATTATTATGTATGCATCTACTTGAGTGATTCTCCAGCGGCAATGATG TGAATACTCTAAGAAATCCTTAAACATAGTTTATATTTTGGCTCGTTTTT CACCTTGAATTATTCACGTGAATAAAGTTCTACCTTGATTTTCGTCTATA TCAACTTTACCTCAGGTGCATCACAGCCAGTACTTACAATCTTCTACTAA ATGAGATGAGCTAGTAGAGAAACAGGGAGAGGAGCAACACTTACCTACTG TCATCAGAAAGCCACACGCCCTTCAGTGGAGAGGTCAGGTTACCTCTGAA AGACACAAACGTTATCTGTGATCTTCACAGGCTGCCCTTTGAAGGGTCAG AGTGAGGCAAGAGTGGAAAAAGTAGATTCCTCACCAATGTGTCACTGCAG ATTTGAACAGGAAATTCTCACCCTAGGGCTATTTTGAATCAGTTTGTCTC ATCACACACTTTAGAATATAGGAGACTTTGGGTGGCTAGTGTGTCATTTA GTTTGTCCATTTTAAAGTGCCTCTTAGAAATTATTTTTATGGTCGACAAG ATGAGGGGAGAGCAGAGATTTGATCCATGCTGGTGATTGTTTCCATCTCA GTCACAAACACCAAAGTTTTGTAACTTTTCAAAAGGATCTTAGGTGGTTG CTTTCTACATTTAGACAAGGTGGCTGAAACTTGACATTATATACTTCTTT ATCATATACCCCTATAATATCACTGCTATCATAATAACAAAATTTAAATA ATGATTTTATCAATAGGAATTTAATGTACTTGTCACTATTTTGAGAAAAT GCTGCATTTTCAACTTAATTGTAACTGACATGCATTCTCAAACTTATCTT CTTGCTTTCTTTGCCTTAGTTCTTAAAATTCCCTCATTCAATTTTTCTTC TTTATATAAGTTAACCAGATTCCTCTGATTAAAATAAATGTCTCTTGAAA GAATAAAATATTAAACAATACTGAGCTATATCTCTATGCCAGAGACTGAA ATAATAAAAAAAACTACCTACTATATTGTTCACCGGTTCCTTCTCTAATC ATGACTTATTGTCTACATTTTAATAGAAATATTTGTTGTAAATGATTAAA GCCTAAGTTAAACTATGAAGGGAGGTTAAAGCAATTTTTAAAACATCACC TACTTAAAAATGGGGAGGCCAGAAAATGGAGATTTTTTTAAAACACAAGT AAAATGATACATGAATGTCCGGGCGTGGTAGCTCATGTCAGTAATCCCAG CACTCCAGGATCACTTGAGCTCAGGAGTTTGAGGTTAGCATGATACACAG GATGAAACCCCATCTCTTAAAAAAAAATATATATATATATATAAAAATTA GCCGAGGATGCTGGTGTTTGCTTGTAGTCCCATCTGCTCTGGAGGCTGAG GTGAGAGGATCGCTTGAGCCCATTGGGGTCAAGGCTGCAGTGAACTGTTA GTGTCACTGCACTGTAGCCTGGGCAACAGAGCCAGACCTTGTCTCAAAAA CAAATAAACAAAAATTTTAAAAAAATAAATGGTATATGAACATCAGGGAA AAAACTATAAATTATCTAGTTGTATTAAATAAAAATCTTTTCATCATTTA TTTTCTATCAAGAAAAGGGGGAATGTTTATGCATAATTCTATTGCCCAGG CTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGG CTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCG TGTGCCACCAGGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGAGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTTATCCGT CTGCCTCGGCCTTCCAATGTGCTGGGATTACAGGCGTGAGCCACTGTGCC CGGCTATTCTCTAAAATCTAAAAAGTTGGAATTTAAACCCATATTTATTT CTTTGCAATGAGAATTATTATTTGCCCTTCCATCAGAATGGCTAATGGTG GCTAGGTATATATGTTTTTCTGTAAAATATATTGTAATATATTTTCACAA AATTAATTAATAATGTCATATGCATATATGCTTGTGTTCATATTGTATCT TTTTCTATTACAAGTATATTTATATTTACATTTTATTACATTTTCATAAA CTAGGTTACTTTTTCTATTAGTCACGTTATGGAACTAAAACAATAAAATC ATTCACTAAAGATGCCACATAATGTATCATTCACTGATGTTTTCTATTTA AGTTTGAAGTGCTGATGTCTACTATTGCTACAAACATCCACTTGGTGTTT TCCATTAGTGTTATACCGTTATTGTTTGCATAATGACAGGGATACCTCTG AGGAATATGTCTTTAGGCAATTTCATCCCTGTGTCAACATCAAAGAGTTT ATTTACACAAACCTAGATGGTACAGCTACTACACTCCTGTGTTATATGGG ATAGGCTATTGCTCCAAGGATACAAACCTGTACAATATGTTACTGTTGTG AATAATGCAAGCAGTGACCAGAATGGTAATTTTTGTTTATCTAATTATAT ATAAACCAAAAAACAGTAAAATATGGTTTAAAAAAAGGTTAAAAATGGCA TCCTTTTATAGGGCACTTACTATGAATGAAGACTGCAGAAATGGAATTTT CCCTGGGTGAGTCAGTGAGTAAGTAGCAAGTGAAAGTCAAGGCCTAGGAT ATTACAGCACACTACTGTAGGATTTATACACTGTACACTAGGGTACACTA TATTTATGCAGCACTTTTTTTCTTGAGCTAATAATAAATTAACTTTACTG CACCTTTGTTGGTTTCTAAATTTTTCATATTTTAAAAATCTTCTGCCTCT TTTTAAATACACTTTATTTAAAAACACAAATTGCACAGTCTTAACAACTA TATTCTTTTTTATGAGCTTTTTTCTATATTTCATTTTAATTTTTTTCTTT TTAAACTTTTTTTAAAAACGAAGACACGAAAACATACATTAGCCTAAGCC TACGCAGTGTCAGCAAGATCAATCTCACTGTCATCCCCTCCACATCTTGT CCCACTGGAAGGTTCAGGCAATAACACACGTGCAGCTGTCCTCTCCTATG GTAACAGTGCCTTCTTCTGGAATTCCTCCTGAGGGACCTGCCCAAGGTTG TTTTTCAGGTAACTGTTTTTATAGAAGTAGAAGGAGTACACTCTAAAATA ATAATTAAAAGTATACTACAGTAAATACATAAACCAATAACATTGTCATT TATTATCATTATCAAATATTATGTAGTGTATGTAATTGTTTGTGCTATAC TTTTATTCCACTGGCAGCAAGGTAATTTACACCAGCATCACCACAGACAT GTGAATAATACACTGTACTGAAACTATTGCTATGACGTCACTAAGTCATA GGAAATTTCCAGCTCCGTTATAATCTAGTGGGACCACTATCTACGTGCAG TCAGTCATTGACCAAAACATCATTTTGTGGCACGTGACTGTATATCATGT CCTTTGTTAATCGAAACAATACAGATTTCTACTGTTTGAGTATTTAACGT GAA	G G	transcript_ablation transcript_ablation	HIGH	HG00280.hp2 HG00423.hp1 HG00544.hp1 others(60): Show HG00280.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00733.hp1 HG01099.hp2 HG01106.hp1 HG01255.hp2 HG01346.hp2 HG01891.hp2 HG01981.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02165.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG06807.hp1 NA18942.hp1 NA18943.hp1 NA18966.hp1 NA18977.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	63	425	0.1482	-12002	c.-50 others(11): Show c.-5024_*2108del	p.0? p.0?	KLRC2	ENSG00000205809.11	transcript	ENST00000381902.7	protein_coding	3/6					chr12	TogoVar
KRBA1_chr7_149709951_149739575	149723729	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0022 a0025 a0026 a0027	a0001c0001 a0001c0009 a0001c0025 others(24): Show a0001c0001 a0001c0009 a0001c0025 a0001c0028 a0002c0004 a0002c0005 a0003c0002 a0003c0018 a0004c0003 a0004c0020 a0006c0008 a0006c0033 a0007c0007 a0008c0010 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0014c0016 a0015c0017 a0016c0034 a0017c0032 a0018c0019 a0022c0024 a0025c0030 a0026c0021 a0027c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0009t0001 a0001c0009t0004 a0001c0025t0001 a0001c0028t0001 a0002c0004t0001 a0002c0004t0006 a0002c0005t0001 a0002c0005t0007 a0003c0002t0001 a0003c0018t0001 a0004c0003t0001 a0004c0020t0001 a0006c0008t0003 a0006c0033t0003 a0007c0007t0001 a0008c0010t0001 a0009c0011t0001 a0010c0012t0001 a0011c0013t0001 a0012c0014t0001 a0014c0016t0001 a0015c0017t0001 a0016c0034t0001 a0017c0032t0001 a0018c0019t0001 a0022c0024t0001 a0025c0030t0001 a0026c0021t0001 a0027c0036t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0004g0038 a0001c0001t0005g0159 a0001c0001t0008g0004 a0001c0009t0001g0012 a0001c0009t0001g0120 a0001c0009t0004g0038 a0001c0025t0001g0019 a0001c0028t0001g0092 a0002c0004t0001g0010 a0002c0004t0001g0012 a0002c0004t0001g0029 a0002c0004t0001g0041 a0002c0004t0001g0047 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0133 a0002c0004t0001g0134 a0002c0004t0001g0163 a0002c0004t0006g0010 a0002c0005t0001g0040 a0002c0005t0001g0048 a0002c0005t0001g0049 a0002c0005t0001g0050 a0002c0005t0001g0051 a0002c0005t0001g0052 a0002c0005t0001g0129 a0002c0005t0007g0040 a0003c0002t0001g0011 a0003c0002t0001g0015 a0003c0002t0001g0018 a0003c0002t0001g0030 a0003c0002t0001g0042 a0003c0002t0001g0136 a0003c0002t0001g0144 a0003c0002t0001g0145 a0003c0002t0001g0146 a0003c0002t0001g0148 a0003c0002t0001g0149 a0003c0002t0001g0150 a0003c0018t0001g0011 a0004c0003t0001g0005 a0004c0003t0001g0006 a0004c0003t0001g0125 a0004c0003t0001g0135 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0140 a0004c0003t0001g0141 a0004c0003t0001g0142 a0004c0003t0001g0151 a0004c0020t0001g0124 a0006c0008t0003g0032 a0006c0008t0003g0046 a0006c0008t0003g0162 a0006c0033t0003g0046 a0007c0007t0001g0020 a0007c0007t0001g0153 a0008c0010t0001g0005 a0009c0011t0001g0013 a0009c0011t0001g0083 a0010c0012t0001g0053 a0010c0012t0001g0080 a0011c0013t0001g0130 a0011c0013t0001g0131 a0011c0013t0001g0132 a0012c0014t0001g0004 a0014c0016t0001g0043 a0015c0017t0001g0164 a0016c0034t0001g0024 a0017c0032t0001g0128 a0018c0019t0001g0137 a0022c0024t0001g0002 a0025c0030t0001g0152 a0026c0021t0001g0002 a0027c0036t0001g0002	282	414	0.6812	1	c.875 others(6): Show c.875-3dupT		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	7/16				INFO_REALIGN_3_PRIME	chr7	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054892	G G	GGGGACTG others(98): Show GGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGA GGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGGCCGGC AGCAGA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02523.hp2 NA18969.hp2 NA19006.hp2 others(2): Show HG02523.hp2 NA18969.hp2 NA19006.hp2 NA19070.hp2 NA19075.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	5	411	0.0122	105	c.319 others(112): Show c.319_320insTCTGCTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGC AGCACCACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCC TGTGTCTGTGCAGTCCC	p.Ser others(118): Show p.Ser106_Pro107insLeuCysCysArgProProCysGlyGlnProTh rProCysSerThrThrCysArgThrSerSerCysTerAlaThrThrCysC ysGlnProValSerValGlnSer	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	338/733	319/372	107/123		chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41101539	TGAGGGGA others(3): Show TGAGGGGAGGG	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG01928.hp1 NA19006.hp2 others(1): Show HG00423.hp1 HG01928.hp1 NA19006.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0000 a0002c0003t0000	a0002c0003t0000g0000 a0002c0003t0000g0000	4	423	0.0095	-10	c.661 others(17): Show c.661_670delCCCTCCCCTC	p.Pro others(5): Show p.Pro221fs	KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding	1/1	670/708	661/708	221/235		chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41101595	G G	GGAAGGGG others(73): Show GGAAGGGGAAGGGGAGGGGATTAACACTGGGGAGAGGAGGGGAGGGGAAG GGCTGGGAGGGGAGGGGAAAGTGAAGGGAGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00423.hp1 HG01928.hp1 HG02451.hp1 others(4): Show HG00423.hp1 HG01928.hp1 HG02451.hp1 HG03139.hp1 HG03453.hp2 NA19006.hp2 NA20129.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0002c0011 a0010c0015 a0002c0003 a0002c0011 a0010c0015	a0002c0003t0000 a0002c0011t0000 a0010c0015t0000 a0002c0003t0000 a0002c0011t0000 a0010c0015t0000	a0002c0003t0000g0000 a0002c0011t0000g0000 a0010c0015t0000g0000 a0002c0003t0000g0000 a0002c0011t0000g0000 a0010c0015t0000g0000	7	423	0.0166	80	c.614 others(87): Show c.614_615insTCTCCCTTCACTTTCCCCTCCCCTCCCAGCCCTTCCCC TCCCCTCCTCTCCCCAGTGTTAATCCCCTCCCCTTCCCCTTC	p.Pro others(5): Show p.Pro206fs	KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding	1/1	614/708	614/708	205/235		chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41101698	G G	GGGGAAGG others(19): Show GGGGAAGGGAGGGGAAGGGGTGGGGAA	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00423.hp1 HG00597.hp1 others(51): Show HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18967.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18992.hp1 NA19000.hp2 NA19005.hp2 NA19006.hp2 NA19056.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp2 NA20129.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0002c0011 a0002c0014 others(1): Show a0002c0003 a0002c0011 a0002c0014 a0010c0015	a0002c0003t0000 a0002c0011t0000 a0002c0014t0000 others(1): Show a0002c0003t0000 a0002c0011t0000 a0002c0014t0000 a0010c0015t0000	a0002c0003t0000g0000 a0002c0011t0000g0000 a0002c0014t0000g0000 others(1): Show a0002c0003t0000g0000 a0002c0011t0000g0000 a0002c0014t0000g0000 a0010c0015t0000g0000	54	423	0.1277	26	c.511 others(33): Show c.511_512insTTCCCCACCCCTTCCCCTCCCTTCCC	p.Pro others(5): Show p.Pro171fs	KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding	1/1	511/708	511/708	171/235		chr17	TogoVar
L1CAM_chrX_153856516_153891173	153863994	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.334 others(5): Show c.3345dupT	p.Gly others(6): Show p.Gly1116fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	26/29	3562/5138	3345/3774	1115/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153864702	T T	TC TC	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.304 others(5): Show c.3048dupG	p.Ile others(6): Show p.Ile1017fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	24/29	3265/5138	3048/3774	1016/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153864864	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	-1	c.300 others(5): Show c.3002delC	p.Pro others(6): Show p.Pro1001fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	23/29	3219/5138	3002/3774	1001/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153864910	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	-1	c.295 others(5): Show c.2956delC	p.His others(5): Show p.His986fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	23/29	3173/5138	2956/3774	986/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153864933	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.293 others(5): Show c.2933dupA	p.His others(5): Show p.His978fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	23/29	3150/5138	2933/3774	978/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153865306	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.274 others(5): Show c.2741dupC	p.Glu others(5): Show p.Glu915fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	21/29	2958/5138	2741/3774	914/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153866651	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.242 others(5): Show c.2428dupG	p.Asp others(5): Show p.Asp810fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	19/29	2645/5138	2428/3774	810/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153866762	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	-1	c.231 others(5): Show c.2317delC	p.Leu others(5): Show p.Leu773fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	19/29	2534/5138	2317/3774	773/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153866855	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	-1	c.222 others(5): Show c.2224delG	p.Asp others(5): Show p.Asp742fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	19/29	2441/5138	2224/3774	742/1257		chrX	TogoVar

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