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
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20129.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 others(13): Show a0001 a0003 a0004 a0005 a0012 a0013 a0014 a0015 a0016 a0021 a0022 a0023 a0024 a0025 a0028 a0030	a0001c0001 a0001c0018 a0001c0029 others(20): Show a0001c0001 a0001c0018 a0001c0029 a0001c0033 a0001c0048 a0001c0058 a0001c0059 a0001c0060 a0003c0007 a0004c0006 a0005c0009 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0028c0035 a0030c0079	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0018t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0003c0007t0001 a0003c0007t0009 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0028c0035t0004 a0030c0079t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0018t0001g0022 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0003c0007t0001g0007 a0003c0007t0009g0036 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0028c0035t0004g0116 a0030c0079t0001g0137	216	396	0.5455	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440318	T T	TCCCGCAT others(208): Show TCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACAT CTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTGC TCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCCT GCTCCCATATCTTCTC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 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.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0003 others(22): Show a0000 a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0028 a0030	a0000c0051 a0001c0001 a0001c0003 others(52): Show a0000c0051 a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0003c0007 a0003c0068 a0003c0069 a0004c0006 a0005c0009 a0006c0020 a0006c0031 a0007c0028 a0008c0026 a0010c0030 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0028c0035 a0030c0079	a0000c0051t0001 a0001c0001t0001 a0001c0001t0003 others(65): Show a0000c0051t0001 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0010c0030t0019 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0028c0035t0004 a0030c0079t0001	a0000c0051t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 others(92): Show a0000c0051t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0001c0066t0001g0079 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0010c0030t0019g0060 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0028c0035t0004g0116 a0030c0079t0001g0137	287	396	0.7248	215	c.215 others(224): Show c.2156_2157insGAGAAGATATGGGAGCAGGAGAAGATGCGGGACCAG GAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAA GATGTGGGGGCAGGAGGAGAAGATGCGGGAGCAGGAAGATGTGGAGACAG GAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATGTGGGAGCAGGAGGAGAA GATGCGGAAGCAGGAGGAGAAGATGCGGG	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2218/3499	2156/2730	719/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440394	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): 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 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 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 HG01168.hp1 HG01168.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 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.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 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.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 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.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 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.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 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.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 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.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	a0000 a0001 a0002 others(27): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0030	a0000c0002 a0000c0004 a0000c0010 others(74): Show a0000c0002 a0000c0004 a0000c0010 a0000c0016 a0000c0022 a0000c0023 a0000c0024 a0000c0025 a0000c0034 a0000c0037 a0000c0038 a0000c0044 a0000c0051 a0000c0075 a0000c0078 a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0002c0008 a0002c0011 a0002c0041 a0003c0007 a0003c0068 a0003c0069 a0004c0006 a0005c0009 a0006c0020 a0006c0031 a0006c0032 a0007c0028 a0008c0026 a0009c0021 a0010c0030 a0011c0042 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0026c0040 a0027c0039 a0028c0035 a0030c0079	a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 others(95): Show a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 a0000c0002t0017 a0000c0004t0002 a0000c0004t0005 a0000c0010t0002 a0000c0010t0011 a0000c0016t0006 a0000c0022t0006 a0000c0023t0002 a0000c0024t0006 a0000c0025t0002 a0000c0034t0002 a0000c0037t0002 a0000c0038t0002 a0000c0044t0002 a0000c0051t0001 a0000c0075t0005 a0000c0078t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 a0002c0008t0024 a0002c0011t0008 a0002c0041t0007 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0006c0032t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0009c0021t0014 a0010c0030t0019 a0011c0042t0009 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0026c0040t0022 a0027c0039t0007 a0028c0035t0004 a0030c0079t0001	a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 others(132): Show a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 a0000c0002t0002g0114 a0000c0002t0002g0117 a0000c0002t0002g0118 a0000c0002t0005g0025 a0000c0002t0011g0039 a0000c0002t0017g0115 a0000c0004t0002g0009 a0000c0004t0002g0014 a0000c0004t0002g0028 a0000c0004t0005g0121 a0000c0010t0002g0015 a0000c0010t0011g0131 a0000c0016t0006g0031 a0000c0016t0006g0051 a0000c0022t0006g0042 a0000c0023t0002g0041 a0000c0024t0006g0030 a0000c0025t0002g0029 a0000c0034t0002g0119 a0000c0037t0002g0120 a0000c0038t0002g0122 a0000c0044t0002g0053 a0000c0051t0001g0067 a0000c0075t0005g0108 a0000c0078t0006g0052 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0001c0066t0001g0079 a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 a0002c0008t0024g0128 a0002c0011t0008g0018 a0002c0011t0008g0138 a0002c0041t0007g0126 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0006c0032t0010g0129 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0009c0021t0014g0056 a0009c0021t0014g0057 a0010c0030t0019g0060 a0011c0042t0009g0086 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0026c0040t0022g0125 a0027c0039t0007g0124 a0028c0035t0004g0116 a0030c0079t0001g0137	391	396	0.9874	-1	c.208 others(5): Show c.2080delA	p.Arg others(5): Show p.Arg694fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2142/3499	2080/2730	694/909		chr15	TogoVar
GP6_chr19_55008705_55043264	55014735	G G	GCAGA GCAGA	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show HG00423.hp2 HG00438.hp2 HG00621.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02148.hp1 HG02486.hp2 HG02630.hp1 HG02683.hp1 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03490.hp2 HG03540.hp2 HG03942.hp2 HG04204.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19005.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2	a0003 a0019 a0003 a0019	a0003c0003 a0003c0016 a0003c0019 others(1): Show a0003c0003 a0003c0016 a0003c0019 a0019c0036	a0003c0003t0003 a0003c0016t0003 a0003c0019t0003 others(1): Show a0003c0003t0003 a0003c0016t0003 a0003c0019t0003 a0019c0036t0003	a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0019 others(53): Show a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0042 a0003c0003t0003g0043 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0245 a0003c0003t0003g0246 a0003c0003t0003g0247 a0003c0003t0003g0248 a0003c0003t0003g0249 a0003c0003t0003g0314 a0003c0016t0003g0313 a0003c0016t0003g0360 a0003c0016t0003g0386 a0003c0019t0003g0072 a0003c0019t0003g0073 a0019c0036t0003g0050	58	441	0.1315	4	c.120 others(13): Show c.1206_1209dupTCTG	p.Pro others(5): Show p.Pro404fs	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	8/8	1237/2268	1209/1863	403/620		chr19	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
GPR50_chrX_151171584_151186465	151176746	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	1	c.30d others(3): Show c.30dupC	p.Tyr others(4): Show p.Tyr11fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	1/2	169/2020	31/1854	11/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR50_chrX_151171584_151186465	151176789	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	1	c.71d others(3): Show c.71dupC	p.Pro others(4): Show p.Pro25fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	1/2	210/2020	72/1854	24/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR50_chrX_151171584_151186465	151180053	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	1	c.472 others(4): Show c.472dupC	p.Leu others(5): Show p.Leu158fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	611/2020	473/1854	158/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR50_chrX_151171584_151186465	151180197	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	-1	c.617 others(4): Show c.617delT	p.Phe others(5): Show p.Phe206fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	755/2020	617/1854	206/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR50_chrX_151171584_151186465	151180287	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	-1	c.708 others(4): Show c.708delT	p.Leu others(5): Show p.Leu237fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	846/2020	708/1854	236/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR50_chrX_151171584_151186465	151180372	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	1	c.791 others(4): Show c.791dupC	p.Lys others(5): Show p.Lys265fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	930/2020	792/1854	264/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR50_chrX_151171584_151186465	151180383	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	1	c.802 others(4): Show c.802dupG	p.Ala others(5): Show p.Ala268fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	941/2020	803/1854	268/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR50_chrX_151171584_151186465	151180693	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	-1	c.111 others(5): Show c.1112delC	p.Pro others(5): Show p.Pro371fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	1250/2020	1112/1854	371/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR50_chrX_151171584_151186465	151180784	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	1	c.120 others(10): Show c.1201_1202insG	p.Ser others(5): Show p.Ser401fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	1340/2020	1202/1854	401/617		chrX	TogoVar
GPR50_chrX_151171584_151186465	151180794	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	1	c.121 others(5): Show c.1212dupC	p.Lys others(5): Show p.Lys405fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	1351/2020	1213/1854	405/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR50_chrX_151171584_151186465	151180809	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0098 a0009c0009t0003g0098	1	356	0.0028	-1	c.122 others(5): Show c.1228delC	p.His others(5): Show p.His410fs	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	1366/2020	1228/1854	410/617	INFO_REALIGN_3_PRIME	chrX	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
GRIN3B_chr19_995419_1014732	1004897	G G	GCGTT GCGTT	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG00741.hp2 HG01069.hp1 others(55): Show HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02056.hp2 HG02135.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02895.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA19030.hp1 NA19065.hp1 NA19067.hp1 NA19089.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0003 a0010 a0023 others(6): Show a0003 a0010 a0023 a0034 a0058 a0070 a0091 a0092 a0103	a0003c0005 a0003c0025 a0003c0026 others(21): Show a0003c0005 a0003c0025 a0003c0026 a0003c0027 a0003c0028 a0003c0038 a0003c0039 a0003c0068 a0003c0069 a0003c0070 a0003c0071 a0003c0072 a0003c0073 a0010c0023 a0010c0054 a0010c0057 a0010c0142 a0023c0033 a0034c0050 a0058c0100 a0070c0139 a0091c0080 a0092c0060 a0103c0091	a0003c0005t0002 a0003c0025t0002 a0003c0026t0002 others(21): Show a0003c0005t0002 a0003c0025t0002 a0003c0026t0002 a0003c0027t0002 a0003c0028t0002 a0003c0038t0002 a0003c0039t0002 a0003c0068t0002 a0003c0069t0002 a0003c0070t0002 a0003c0071t0002 a0003c0072t0002 a0003c0073t0002 a0010c0023t0001 a0010c0054t0001 a0010c0057t0002 a0010c0142t0003 a0023c0033t0002 a0034c0050t0001 a0058c0100t0001 a0070c0139t0003 a0091c0080t0004 a0092c0060t0002 a0103c0091t0001	a0003c0005t0002g0006 a0003c0005t0002g0017 a0003c0005t0002g0047 others(35): Show a0003c0005t0002g0006 a0003c0005t0002g0017 a0003c0005t0002g0047 a0003c0005t0002g0067 a0003c0005t0002g0075 a0003c0005t0002g0087 a0003c0005t0002g0088 a0003c0005t0002g0092 a0003c0025t0002g0006 a0003c0025t0002g0095 a0003c0026t0002g0006 a0003c0026t0002g0091 a0003c0026t0002g0100 a0003c0027t0002g0006 a0003c0027t0002g0047 a0003c0028t0002g0012 a0003c0028t0002g0094 a0003c0038t0002g0012 a0003c0039t0002g0046 a0003c0068t0002g0086 a0003c0069t0002g0017 a0003c0070t0002g0093 a0003c0071t0002g0012 a0003c0072t0002g0090 a0003c0073t0002g0089 a0010c0023t0001g0034 a0010c0023t0001g0144 a0010c0054t0001g0057 a0010c0057t0002g0068 a0010c0142t0003g0163 a0023c0033t0002g0029 a0034c0050t0001g0114 a0034c0050t0001g0115 a0058c0100t0001g0169 a0070c0139t0003g0165 a0091c0080t0004g0085 a0092c0060t0002g0006 a0103c0091t0001g0194	58	446	0.1300	4	c.139 others(13): Show c.1396_1397insCGTT	p.Gly others(5): Show p.Gly466fs	GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	3/9	1416/3281	1397/3132	466/1043		chr19	TogoVar
GRIPAP1_chrX_48968723_49007264	48998159	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0011 a0011	a0011c0006 a0011c0006	a0011c0006t0001 a0011c0006t0001	a0011c0006t0001g0021 a0011c0006t0001g0021	1	297	0.0034	1	c.192 others(4): Show c.192dupA	p.Ala others(4): Show p.Ala65fs	GRIPAP1	ENSG00000068400.14	transcript	ENST00000376423.8	protein_coding	4/26	227/3031	192/2526	64/841		chrX	TogoVar
GSDMB_chr17_39899595_39923635	39908216	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02559.hp1 HG02818.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 others(47): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0141 a0002c0002t0001g0155 a0002c0002t0004g0156 a0002c0002t0005g0157	125	400	0.3125	0	c.662 others(5): Show c.662-2A>G		GSDMB	ENSG00000073605.19	transcript	ENST00000418519.6	protein_coding	5/10					chr17	TogoVar
GTPBP3_chr19_17332553_17347731	17341646	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00558.hp2 HG01099.hp2 others(46): Show HG00423.hp1 HG00558.hp2 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03486.hp2 HG03492.hp1 HG03927.hp1 HG04199.hp1 NA18946.hp1 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18977.hp2 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19011.hp1 NA19057.hp1 NA19068.hp1 NA19085.hp2 NA19090.hp2 NA20805.hp2	a0000 a0000	a0000c0004 a0000c0005 a0000c0007 others(1): Show a0000c0004 a0000c0005 a0000c0007 a0000c0020	a0000c0004t0001 a0000c0004t0002 a0000c0004t0005 others(7): Show a0000c0004t0001 a0000c0004t0002 a0000c0004t0005 a0000c0005t0001 a0000c0005t0002 a0000c0005t0003 a0000c0005t0007 a0000c0005t0015 a0000c0007t0001 a0000c0020t0002	a0000c0004t0001g0006 a0000c0004t0001g0007 a0000c0004t0001g0019 others(19): Show a0000c0004t0001g0006 a0000c0004t0001g0007 a0000c0004t0001g0019 a0000c0004t0001g0042 a0000c0004t0002g0002 a0000c0004t0002g0004 a0000c0004t0002g0006 a0000c0004t0002g0010 a0000c0004t0002g0017 a0000c0004t0002g0035 a0000c0004t0002g0046 a0000c0004t0005g0026 a0000c0005t0001g0001 a0000c0005t0001g0013 a0000c0005t0002g0003 a0000c0005t0002g0011 a0000c0005t0003g0005 a0000c0005t0003g0014 a0000c0005t0007g0011 a0000c0005t0015g0005 a0000c0007t0001g0001 a0000c0020t0002g0003	49	408	0.1201	1	c.142 others(5): Show c.1427dupG	p.Thr others(5): Show p.Thr477fs	GTPBP3	ENSG00000130299.17	transcript	ENST00000324894.13	protein_coding	9/9	1487/2566	1428/1479	476/492	INFO_REALIGN_3_PRIME	chr19	TogoVar
GYG2_chrX_2823930_2887818	2843276	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0305 a0014c0012t0001g0305	1	316	0.0032	-1	c.75d others(3): Show c.75delG	p.Gln others(4): Show p.Gln26fs	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/11	249/3192	75/1413	25/470	INFO_REALIGN_3_PRIME	chrX	TogoVar
HLA-B_chr6_31348875_31362179	31356366	G G	T T	stop_gained stop_gained	HIGH	HG00438.hp2 HG00621.hp2 HG01074.hp1 others(44): Show HG00438.hp2 HG00621.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG01516.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG03209.hp1 HG03579.hp2 HG03834.hp1 HG04204.hp2 NA18522.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18998.hp1 NA19000.hp2 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19067.hp2 NA19075.hp2 NA19078.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0014 a0018 a0024 others(7): Show a0014 a0018 a0024 a0025 a0029 a0030 a0031 a0033 a0039 a0066	a0014c0014 a0018c0016 a0024c0023 others(7): Show a0014c0014 a0018c0016 a0024c0023 a0025c0024 a0029c0031 a0030c0030 a0031c0029 a0033c0033 a0039c0038 a0066c0058	a0014c0014t0010 a0014c0014t0036 a0018c0016t0006 others(9): Show a0014c0014t0010 a0014c0014t0036 a0018c0016t0006 a0024c0023t0006 a0025c0024t0006 a0029c0031t0010 a0030c0030t0010 a0031c0029t0010 a0033c0033t0022 a0033c0033t0024 a0039c0038t0022 a0066c0058t0010	a0014c0014t0010g0020 a0014c0014t0010g0063 a0014c0014t0036g0110 others(13): Show a0014c0014t0010g0020 a0014c0014t0010g0063 a0014c0014t0036g0110 a0018c0016t0006g0015 a0024c0023t0006g0022 a0025c0024t0006g0023 a0029c0031t0010g0046 a0029c0031t0010g0109 a0030c0030t0010g0045 a0030c0030t0010g0108 a0031c0029t0010g0044 a0031c0029t0010g0107 a0033c0033t0022g0081 a0033c0033t0024g0040 a0039c0038t0022g0041 a0066c0058t0010g0106	47	468	0.1004	0	c.420 others(3): Show c.420C>A	p.Tyr others(4): Show p.Tyr140*	HLA-B	ENSG00000234745.14	transcript	ENST00000412585.7	protein_coding	3/8	441/1536	420/1089	140/362		chr6	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
HMG20B_chr19_3567944_3584083	3578053	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01361.hp1 HG01496.hp1 others(11): Show HG00735.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG02886.hp1 HG04204.hp2 NA18973.hp2 NA18980.hp2 NA18985.hp1 NA19000.hp2 NA19074.hp2 NA19082.hp2 NA19090.hp1 NA19090.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 a0000c0002t0001 a0000c0002t0002 a0000c0002t0004	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 others(10): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 a0000c0002t0001g0009 a0000c0002t0001g0014 a0000c0002t0001g0032 a0000c0002t0001g0035 a0000c0002t0001g0051 a0000c0002t0001g0057 a0000c0002t0002g0007 a0000c0002t0002g0021 a0000c0002t0004g0008 a0000c0002t0004g0041	14	406	0.0345	1	c.885 others(4): Show c.885dupC	p.Ala others(5): Show p.Ala296fs	HMG20B	ENSG00000064961.19	transcript	ENST00000333651.11	protein_coding	9/10	955/1585	886/954	296/317	INFO_REALIGN_3_PRIME	chr19	TogoVar
HOMER3_chr19_18924203_18946217	18929445	A A	G G	stop_lost stop_lost	HIGH	NA18955.hp2 NA18964.hp2 NA18985.hp1 others(2): Show NA18955.hp2 NA18964.hp2 NA18985.hp1 NA18989.hp1 NA19057.hp2	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0001 a0000c0006t0001	a0000c0006t0001g0045 a0000c0006t0001g0157 a0000c0006t0001g0159 others(1): Show a0000c0006t0001g0045 a0000c0006t0001g0157 a0000c0006t0001g0159 a0000c0006t0001g0166	5	412	0.0121	0	c.108 others(4): Show c.1084T>C	p.Ter others(11): Show p.Ter362Argext*?	HOMER3	ENSG00000051128.19	transcript	ENST00000392351.8	protein_coding	10/10	1318/1560	1084/1086	362/361		chr19	TogoVar
HP_chr16_72049505_72066055	72056410	GGCTTCTA others(1717): Show GGCTTCTATTCGGGGTGGAAGGAGATTGATGTGCAGAGCAGCTCCCGCTC ATCTGACTTTTCACGGTTCACTGGGAACAATTTCCAAATAGCAAACTCTC TGGCTTCTCTCTCTTTGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTG CACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTAC AAACTGCGCACAGAAGGAGATGGTAAGATGTGGACAACTGTCTCCATGCC CTACATACAACCCCCTTCTCTGACATTTCCATGATGGGTGGTGCTGAGGT GATTCGCCAGAAAGTTCGTTGCTCTCCTTGGAGCCAGGAGATTTAGATTC TAATAAGCGTTTTGTCGCCAGTAGCCATGGCCCTTTGGGCAGACTAACTT TTGTCAGCCTCAAGTTTTCTGTTTTGTTAAGGGGAGGCGATGCCATGCAG CCTACCTCATGTAAATCTCAGAGTCACATTTACATCTCCAGCAGATGTGG GAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGTGAGTCTTGC TGTCCTGGCACTGCTCTAAGGGCTTTATACTTATTTGCTCACTTAGTCCT CACAGTATCCCTCTGAACAGAGTTTATTGTTTTCACTTTGCTGATAAGGA AACTGAGGCACAGACAGGTTGAGTATCTTGCCCAAATTCAGGCAGCCTGT AAGAGGCAGAGTCAGGATTTGAACCCTGAGCCCTCCCTGTACTGCTTGGC TGTGACCGCCATGACCACAGTGTGTTCTGCTGGGCTTAACTGGTGTCCAG GCACTTGGCTTCCAGCACAGCACTCTTTCCCTTCCTCCTTCTCATATTCT CTCTCCTTTCTCCCTTCCTGTCTGCCTCCTTTCTTCTTCTTCTTTTTAAT TCTTCTCCTTAAATGCCTTCTCACTCTGCTCTGGGTGCAGACTTGACTTT TCCTTTGGCTCATTTCTTGCCTTTTGTTTCAGGAGTATACACCTTAAATG ATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGT GAAGCAGGTGGGTGCTGAGCACTGAGCACTTAAGAGAGCAGGCAGGCGTC CAGCGGGGAACGTCCTAGAGGCACAGCCTTCCAGTGCGGCTTCCTCTGAG CACACAAGAGCCAGGAGGAGGGATGTGGGAGAACCGCAGCTGGCCAGGGA GAGACTTAAGCAGTTAGGTGATGACTCCCTAAGGGTCACCAAGGGTCTTG TTCATTGGGGCCTGAAGGGCACTGGCTGAATCCACTGTCGGCACTGCCCA CAGATCAGGAGAGCCTGTGCATACAGAGAGCCTGCTAGAAAGCCCTGGGT CTAAGGAGAAGCAAGCTCCAGGGAGAACAAGTCAAGGAATGACATAAAAT CTTAATCCATGGAAGCCTAGCAGGAGGCTGGACATGGGCTGGAACTCCTG CTTCTCGTTATTAGGAGGAGCTGTTGCTCTCTCCTTTCATTCTCAGAACC AGAGGCAAAGACCCAGCCTCTTCTGCTCTTACTGGTGTGGAAATGCCAAC CTGCCTCGTATTAACTGCACCATCTACAAAATCTGAGCTCCAGCCAGTGC TGCTCTAGATTCATCTTTCTTTAGAGAGAATGAATTATTGTAGCCCCTAG CCCTTTCAATGAATTTCAGGGAATTGTGGAAATTCCTTTATTGGGATAAT TGTTTAAAAATAATACAGTTCGCGA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0018 a0002c0002 a0002c0006 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0006t0001 a0002c0018t0001	a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 others(6): Show a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0002g0011 a0002c0002t0004g0007 a0002c0002t0007g0026 a0002c0002t0010g0007 a0002c0006t0001g0002 a0002c0018t0001g0002	105	425	0.2471	-1724	c.191 others(15): Show c.191-189_368-188del		HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr16	TogoVar
HRNR_chr1_152207076_152229193	152223252	AT AT	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): 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 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.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 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 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 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 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 a0001	a0001c0001 a0001c0002 a0001c0003 others(208): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0092 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0001c0098 a0001c0099 a0001c0100 a0001c0101 a0001c0102 a0001c0103 a0001c0104 a0001c0105 a0001c0106 a0001c0107 a0001c0108 a0001c0109 a0001c0110 a0001c0111 a0001c0112 a0001c0113 a0001c0114 a0001c0115 a0001c0116 a0001c0117 a0001c0118 a0001c0119 a0001c0120 a0001c0121 a0001c0122 a0001c0123 a0001c0124 a0001c0125 a0001c0126 a0001c0127 a0001c0128 a0001c0129 a0001c0130 a0001c0131 a0001c0132 a0001c0133 a0001c0134 a0001c0135 a0001c0136 a0001c0137 a0001c0138 a0001c0139 a0001c0140 a0001c0141 a0001c0142 a0001c0143 a0001c0144 a0001c0145 a0001c0146 a0001c0147 a0001c0148 a0001c0149 a0001c0150 a0001c0151 a0001c0152 a0001c0153 a0001c0154 a0001c0155 a0001c0156 a0001c0157 a0001c0158 a0001c0159 a0001c0160 a0001c0161 a0001c0162 a0001c0163 a0001c0164 a0001c0165 a0001c0166 a0001c0167 a0001c0168 a0001c0169 a0001c0170 a0001c0171 a0001c0172 a0001c0173 a0001c0174 a0001c0175 a0001c0176 a0001c0177 a0001c0178 a0001c0179 a0001c0180 a0001c0181 a0001c0182 a0001c0183 a0001c0184 a0001c0185 a0001c0186 a0001c0187 a0001c0188 a0001c0189 a0001c0190 a0001c0191 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0001c0197 a0001c0198 a0001c0199 a0001c0200 a0001c0201 a0001c0202 a0001c0203 a0001c0204 a0001c0205 a0001c0206 a0001c0207 a0001c0208 a0001c0209 a0001c0210 a0001c0211 a0001c0212 a0001c0213 a0001c0214 a0001c0215 a0001c0216 a0001c0217 a0001c0218 a0001c0219 a0001c0220 a0001c0221 a0001c0222 a0001c0223 a0001c0224 a0001c0225 a0001c0226 a0001c0227 a0001c0228 a0001c0229 a0001c0230 a0001c0231	a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 others(209): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0007 a0001c0011t0001 a0001c0012t0001 a0001c0013t0005 a0001c0014t0008 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0004 a0001c0020t0001 a0001c0021t0005 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0006 a0001c0028t0006 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0003 a0001c0039t0004 a0001c0040t0001 a0001c0041t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0002 a0001c0045t0002 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0001 a0001c0077t0001 a0001c0078t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0001c0082t0001 a0001c0083t0001 a0001c0084t0001 a0001c0085t0001 a0001c0086t0001 a0001c0087t0001 a0001c0088t0001 a0001c0089t0001 a0001c0090t0001 a0001c0091t0014 a0001c0092t0016 a0001c0093t0001 a0001c0094t0001 a0001c0095t0017 a0001c0096t0001 a0001c0097t0015 a0001c0098t0011 a0001c0099t0001 a0001c0100t0001 a0001c0101t0001 a0001c0102t0001 a0001c0103t0001 a0001c0104t0001 a0001c0105t0001 a0001c0106t0001 a0001c0107t0001 a0001c0108t0001 a0001c0109t0001 a0001c0110t0001 a0001c0111t0001 a0001c0112t0001 a0001c0113t0001 a0001c0114t0006 a0001c0115t0006 a0001c0116t0001 a0001c0117t0001 a0001c0118t0001 a0001c0119t0001 a0001c0120t0001 a0001c0121t0001 a0001c0122t0001 a0001c0123t0001 a0001c0124t0001 a0001c0125t0001 a0001c0126t0001 a0001c0127t0001 a0001c0128t0001 a0001c0129t0001 a0001c0130t0001 a0001c0131t0001 a0001c0132t0001 a0001c0133t0001 a0001c0134t0001 a0001c0135t0001 a0001c0136t0001 a0001c0137t0001 a0001c0138t0001 a0001c0139t0001 a0001c0140t0001 a0001c0141t0001 a0001c0142t0001 a0001c0143t0001 a0001c0144t0001 a0001c0145t0001 a0001c0146t0001 a0001c0147t0001 a0001c0148t0001 a0001c0149t0001 a0001c0150t0001 a0001c0151t0001 a0001c0152t0001 a0001c0153t0001 a0001c0154t0001 a0001c0155t0001 a0001c0156t0001 a0001c0157t0001 a0001c0158t0001 a0001c0159t0001 a0001c0160t0010 a0001c0161t0001 a0001c0162t0001 a0001c0163t0010 a0001c0164t0005 a0001c0165t0001 a0001c0166t0001 a0001c0167t0001 a0001c0168t0001 a0001c0169t0001 a0001c0170t0001 a0001c0171t0001 a0001c0172t0001 a0001c0173t0001 a0001c0174t0001 a0001c0175t0001 a0001c0176t0001 a0001c0177t0001 a0001c0178t0001 a0001c0179t0001 a0001c0180t0001 a0001c0181t0001 a0001c0182t0003 a0001c0183t0003 a0001c0184t0004 a0001c0185t0001 a0001c0186t0002 a0001c0187t0002 a0001c0188t0002 a0001c0189t0002 a0001c0190t0002 a0001c0191t0013 a0001c0192t0002 a0001c0193t0002 a0001c0194t0002 a0001c0195t0002 a0001c0196t0002 a0001c0197t0002 a0001c0198t0002 a0001c0199t0002 a0001c0200t0002 a0001c0201t0002 a0001c0202t0002 a0001c0203t0002 a0001c0204t0002 a0001c0205t0002 a0001c0206t0009 a0001c0207t0002 a0001c0208t0002 a0001c0209t0002 a0001c0210t0018 a0001c0211t0002 a0001c0212t0002 a0001c0213t0002 a0001c0214t0002 a0001c0215t0002 a0001c0216t0002 a0001c0217t0002 a0001c0218t0002 a0001c0219t0002 a0001c0220t0002 a0001c0221t0002 a0001c0222t0002 a0001c0223t0002 a0001c0224t0002 a0001c0225t0002 a0001c0226t0002 a0001c0227t0002 a0001c0228t0005 a0001c0229t0005 a0001c0230t0008 a0001c0231t0005	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 others(217): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0193 a0001c0001t0002g0240 a0001c0001t0012g0226 a0001c0002t0002g0001 a0001c0002t0002g0034 a0001c0002t0002g0239 a0001c0003t0003g0003 a0001c0004t0001g0004 a0001c0005t0001g0005 a0001c0007t0001g0007 a0001c0007t0001g0048 a0001c0009t0007g0008 a0001c0011t0001g0009 a0001c0012t0001g0010 a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0014t0008g0013 a0001c0016t0001g0015 a0001c0017t0001g0016 a0001c0018t0001g0014 a0001c0019t0004g0020 a0001c0020t0001g0021 a0001c0021t0005g0019 a0001c0023t0001g0027 a0001c0024t0001g0028 a0001c0025t0001g0029 a0001c0026t0001g0030 a0001c0027t0006g0031 a0001c0028t0006g0032 a0001c0029t0001g0033 a0001c0030t0001g0035 a0001c0031t0001g0036 a0001c0032t0001g0037 a0001c0033t0001g0038 a0001c0034t0001g0022 a0001c0035t0001g0023 a0001c0036t0001g0024 a0001c0037t0001g0025 a0001c0038t0003g0041 a0001c0039t0004g0040 a0001c0040t0001g0043 a0001c0041t0002g0044 a0001c0042t0002g0042 a0001c0043t0002g0045 a0001c0044t0002g0046 a0001c0045t0002g0047 a0001c0061t0001g0140 a0001c0062t0001g0141 a0001c0063t0001g0142 a0001c0064t0001g0143 a0001c0065t0001g0074 a0001c0066t0001g0075 a0001c0067t0001g0076 a0001c0068t0001g0077 a0001c0069t0001g0078 a0001c0070t0001g0079 a0001c0071t0001g0080 a0001c0072t0001g0053 a0001c0073t0001g0081 a0001c0074t0001g0082 a0001c0075t0001g0083 a0001c0076t0001g0084 a0001c0077t0001g0085 a0001c0078t0001g0086 a0001c0079t0001g0087 a0001c0080t0001g0088 a0001c0081t0001g0089 a0001c0082t0001g0090 a0001c0083t0001g0091 a0001c0084t0001g0092 a0001c0085t0001g0093 a0001c0086t0001g0094 a0001c0087t0001g0095 a0001c0088t0001g0192 a0001c0089t0001g0096 a0001c0090t0001g0097 a0001c0091t0014g0098 a0001c0092t0016g0099 a0001c0093t0001g0100 a0001c0094t0001g0101 a0001c0095t0017g0102 a0001c0096t0001g0103 a0001c0097t0015g0104 a0001c0098t0011g0105 a0001c0099t0001g0106 a0001c0100t0001g0107 a0001c0101t0001g0108 a0001c0102t0001g0109 a0001c0103t0001g0110 a0001c0104t0001g0111 a0001c0105t0001g0112 a0001c0106t0001g0113 a0001c0107t0001g0114 a0001c0108t0001g0115 a0001c0109t0001g0116 a0001c0110t0001g0117 a0001c0111t0001g0118 a0001c0112t0001g0119 a0001c0113t0001g0120 a0001c0114t0006g0121 a0001c0115t0006g0122 a0001c0116t0001g0123 a0001c0117t0001g0124 a0001c0118t0001g0125 a0001c0119t0001g0126 a0001c0120t0001g0049 a0001c0121t0001g0127 a0001c0122t0001g0128 a0001c0123t0001g0129 a0001c0124t0001g0130 a0001c0125t0001g0131 a0001c0126t0001g0132 a0001c0127t0001g0133 a0001c0128t0001g0134 a0001c0129t0001g0135 a0001c0130t0001g0136 a0001c0131t0001g0137 a0001c0132t0001g0138 a0001c0133t0001g0144 a0001c0134t0001g0145 a0001c0135t0001g0146 a0001c0136t0001g0147 a0001c0137t0001g0148 a0001c0138t0001g0149 a0001c0139t0001g0150 a0001c0140t0001g0151 a0001c0141t0001g0152 a0001c0142t0001g0153 a0001c0143t0001g0154 a0001c0144t0001g0155 a0001c0145t0001g0156 a0001c0146t0001g0157 a0001c0147t0001g0158 a0001c0148t0001g0159 a0001c0149t0001g0160 a0001c0150t0001g0161 a0001c0151t0001g0162 a0001c0152t0001g0163 a0001c0153t0001g0164 a0001c0154t0001g0165 a0001c0155t0001g0166 a0001c0156t0001g0167 a0001c0157t0001g0168 a0001c0158t0001g0169 a0001c0159t0001g0170 a0001c0160t0010g0171 a0001c0161t0001g0172 a0001c0162t0001g0173 a0001c0163t0010g0174 a0001c0164t0005g0139 a0001c0165t0001g0056 a0001c0166t0001g0057 a0001c0167t0001g0058 a0001c0168t0001g0059 a0001c0169t0001g0060 a0001c0170t0001g0061 a0001c0171t0001g0062 a0001c0172t0001g0063 a0001c0173t0001g0064 a0001c0174t0001g0065 a0001c0175t0001g0066 a0001c0176t0001g0067 a0001c0177t0001g0068 a0001c0178t0001g0069 a0001c0179t0001g0070 a0001c0180t0001g0071 a0001c0181t0001g0072 a0001c0182t0003g0204 a0001c0183t0003g0187 a0001c0184t0004g0186 a0001c0185t0001g0073 a0001c0186t0002g0205 a0001c0187t0002g0206 a0001c0188t0002g0188 a0001c0189t0002g0189 a0001c0190t0002g0190 a0001c0191t0013g0191 a0001c0192t0002g0207 a0001c0193t0002g0208 a0001c0194t0002g0209 a0001c0195t0002g0210 a0001c0196t0002g0051 a0001c0197t0002g0211 a0001c0198t0002g0212 a0001c0199t0002g0238 a0001c0200t0002g0213 a0001c0201t0002g0214 a0001c0202t0002g0215 a0001c0203t0002g0050 a0001c0204t0002g0216 a0001c0205t0002g0217 a0001c0206t0009g0218 a0001c0207t0002g0219 a0001c0208t0002g0220 a0001c0209t0002g0221 a0001c0210t0018g0241 a0001c0211t0002g0222 a0001c0212t0002g0223 a0001c0213t0002g0224 a0001c0214t0002g0225 a0001c0215t0002g0202 a0001c0216t0002g0227 a0001c0217t0002g0228 a0001c0218t0002g0229 a0001c0219t0002g0230 a0001c0220t0002g0231 a0001c0221t0002g0232 a0001c0222t0002g0233 a0001c0223t0002g0234 a0001c0224t0002g0235 a0001c0225t0002g0236 a0001c0226t0002g0237 a0001c0227t0002g0203 a0001c0228t0005g0183 a0001c0229t0005g0184 a0001c0230t0008g0181 a0001c0231t0005g0185	382	418	0.9139	-1	c.1de others(2): Show c.1delA	p.Met others(3): Show p.Met1fs	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	2/3	77/9629	1/8553	1/2850		chr1	TogoVar
HSFX2_chrX_149587512_149600314	149592701	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0020 a0015c0013t0001g0020	1	279	0.0036	-1	c.116 others(5): Show c.1162delC	p.His others(5): Show p.His388fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1776/1966	1162/1272	388/423		chrX	TogoVar
HSFX2_chrX_149587512_149600314	149593186	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0020 a0015c0013t0001g0020	1	279	0.0036	-1	c.677 others(4): Show c.677delC	p.Pro others(5): Show p.Pro226fs	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding	2/2	1291/1966	677/1272	226/423		chrX	TogoVar
IL3RA_chrX_1331785_1387689	1345322	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0050 a0003c0005t0002g0050	1	115	0.0087	-1	c.74d others(3): Show c.74delC	p.Pro others(4): Show p.Pro25fs	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	3/12	254/1541	74/1137	25/378	INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCM_chr4_149346709_149820843	149352043	G G	A A	stop_gained stop_gained	HIGH	NA18978.hp2 NA18985.hp2 NA18978.hp2 NA18985.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0048 a0005c0007t0001g0212 a0005c0007t0001g0048 a0005c0007t0001g0212	2	252	0.0079	0	c.141 others(4): Show c.1414C>T	p.Arg others(4): Show p.Arg472*	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	14/14	1744/2078	1414/1506	472/501		chr4	TogoVar
IRS2_chr13_109747695_109791583	109782805	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00673.hp2 HG00741.hp1 others(24): Show HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp1 HG01255.hp1 HG01433.hp1 HG02738.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18953.hp2 NA18966.hp2 NA18980.hp1 NA18985.hp2 NA18988.hp2 NA18992.hp2 NA18999.hp1 NA19010.hp1 NA19064.hp1 NA19072.hp1 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2	a0003 a0004 a0003 a0004	a0003c0008 a0003c0010 a0003c0012 others(2): Show a0003c0008 a0003c0010 a0003c0012 a0004c0006 a0004c0025	a0003c0008t0002 a0003c0008t0004 a0003c0008t0009 others(11): Show a0003c0008t0002 a0003c0008t0004 a0003c0008t0009 a0003c0008t0032 a0003c0010t0001 a0003c0010t0003 a0003c0010t0010 a0003c0012t0002 a0003c0012t0012 a0003c0012t0031 a0004c0006t0001 a0004c0006t0002 a0004c0006t0007 a0004c0025t0001	a0003c0008t0002g0130 a0003c0008t0002g0131 a0003c0008t0002g0133 others(24): Show a0003c0008t0002g0130 a0003c0008t0002g0131 a0003c0008t0002g0133 a0003c0008t0002g0134 a0003c0008t0004g0129 a0003c0008t0009g0128 a0003c0008t0032g0132 a0003c0010t0001g0060 a0003c0010t0003g0056 a0003c0010t0003g0058 a0003c0010t0003g0059 a0003c0010t0010g0057 a0003c0012t0002g0242 a0003c0012t0012g0243 a0003c0012t0031g0241 a0004c0006t0001g0184 a0004c0006t0001g0187 a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0190 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0002g0186 a0004c0006t0007g0185 a0004c0025t0001g0287	27	398	0.0678	1	c.324 others(5): Show c.3248dupC	p.Pro others(6): Show p.Pro1084fs	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/2	3778/8156	3248/4017	1083/1338		chr13	TogoVar
IRX2_chr5_2741165_2756677	2748551	GACGTGTA others(19): Show GACGTGTAGTAGAGGGGGCGGCCCAGC	G G	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0000 a0000	a0000c0012 a0000c0012	a0000c0012t0001 a0000c0012t0001	a0000c0012t0001g0079 a0000c0012t0001g0079	1	436	0.0023	-26	c.113 others(35): Show c.1131_1156delGCTGGGCCGCCCCCTCTACTACACGT	p.Leu others(5): Show p.Leu378fs	IRX2	ENSG00000170561.13	transcript	ENST00000302057.6	protein_coding	3/4	1420/3079	1131/1416	377/471		chr5	TogoVar
ITIH6_chrX_54743918_54803255	54758588	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0062 a0006c0010t0002g0062	1	296	0.0034	1	c.148 others(5): Show c.1485dupC	p.Asn others(5): Show p.Asn496fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	8/13	1530/4964	1485/3942	495/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54788552	AGAGATGG others(3): Show AGAGATGGACG	A A	frameshift_variant frameshift_variant	HIGH	HG03704.hp2 NA18985.hp2 HG03704.hp2 NA18985.hp2	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0002 a0006c0010t0002 a0006c0009t0002 a0006c0010t0002	a0006c0009t0002g0181 a0006c0010t0002g0062 a0006c0009t0002g0181 a0006c0010t0002g0062	2	296	0.0068	-10	c.704 others(17): Show c.704_713delCGTCCATCTC	p.Ser others(5): Show p.Ser235fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	5/13	758/4964	704/3942	235/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54788593	T T	TGTGGTGT others(61): Show TGTGGTGTGGGGCTGCTGAGGGGTGGTTTGTGTGCTGGGGTTGAGAGTCC TATAGCAGGAGATGCACGA	frameshift_variant frameshift_variant	HIGH	HG03704.hp2 NA18985.hp2 HG03704.hp2 NA18985.hp2	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0002 a0006c0010t0002 a0006c0009t0002 a0006c0010t0002	a0006c0009t0002g0181 a0006c0010t0002g0062 a0006c0009t0002g0181 a0006c0010t0002g0062	2	296	0.0068	68	c.672 others(75): Show c.672_673insTCGTGCATCTCCTGCTATAGGACTCTCAACCCCAGCAC ACAAACCACCCCTCAGCAGCCCCACACCAC	p.Ile others(5): Show p.Ile225fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	5/13	717/4964	672/3942	224/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54788598	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG03704.hp2 NA18985.hp2 HG03704.hp2 NA18985.hp2	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0002 a0006c0010t0002 a0006c0009t0002 a0006c0010t0002	a0006c0009t0002g0181 a0006c0010t0002g0062 a0006c0009t0002g0181 a0006c0010t0002g0062	2	296	0.0068	1	c.667 others(4): Show c.667dupG	p.Val others(5): Show p.Val223fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	5/13	712/4964	667/3942	223/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54788607	T T	TCAGG TCAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03704.hp2 NA18985.hp2 HG03704.hp2 NA18985.hp2	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0002 a0006c0010t0002 a0006c0009t0002 a0006c0010t0002	a0006c0009t0002g0181 a0006c0010t0002g0062 a0006c0009t0002g0181 a0006c0010t0002g0062	2	296	0.0068	4	c.658 others(11): Show c.658_659insCCTG	p.Glu others(5): Show p.Glu220fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	5/13	703/4964	658/3942	220/1313		chrX	TogoVar
KASH5_chr19_49383249_49422990	49409254	CTGGGCTT others(23): Show CTGGGCTTGGAGATCGAGGCCATTCGACAGG	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0083 a0008c0011t0001g0083	1	354	0.0028	-30	c.112 others(41): Show c.1123_1146+6delTTGGAGATCGAGGCCATTCGACAGGTGGGC	p.Leu others(13): Show p.Leu375_Gln382del	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	14/20	1297/2343	1123/1689	375/562	INFO_REALIGN_3_PRIME	chr19	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
KIAA0513_chr16_85022795_85099218	85071765	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0095 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0113 a0001c0005t0019 a0001c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 others(106): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0177 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0006g0001 a0001c0001t0006g0040 a0001c0001t0006g0105 a0001c0001t0006g0132 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0319 a0001c0001t0011g0238 a0001c0001t0011g0259 a0001c0001t0012g0016 a0001c0001t0012g0324 a0001c0001t0012g0328 a0001c0001t0012g0329 a0001c0001t0013g0285 a0001c0001t0013g0302 a0001c0001t0013g0308 a0001c0001t0013g0315 a0001c0001t0020g0194 a0001c0001t0026g0233 a0001c0001t0028g0264 a0001c0001t0028g0273 a0001c0001t0029g0278 a0001c0001t0029g0314 a0001c0001t0032g0014 a0001c0001t0032g0256 a0001c0001t0033g0321 a0001c0001t0033g0322 a0001c0001t0042g0207 a0001c0001t0044g0023 a0001c0001t0044g0036 a0001c0001t0045g0099 a0001c0001t0045g0100 a0001c0001t0048g0248 a0001c0001t0049g0294 a0001c0001t0051g0312 a0001c0001t0052g0291 a0001c0001t0053g0001 a0001c0001t0055g0228 a0001c0001t0057g0229 a0001c0001t0063g0334 a0001c0001t0067g0042 a0001c0001t0068g0225 a0001c0001t0069g0297 a0001c0001t0071g0236 a0001c0001t0072g0254 a0001c0001t0073g0098 a0001c0001t0074g0318 a0001c0001t0075g0252 a0001c0001t0095g0262 a0001c0001t0105g0206 a0001c0001t0106g0016 a0001c0001t0107g0208 a0001c0001t0113g0025 a0001c0005t0019g0095 a0001c0010t0001g0219	111	390	0.2846	1	c.330 others(6): Show c.330-3dupT		KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding	2/12				INFO_REALIGN_3_PRIME	chr16	TogoVar
KLHL15_chrX_23978720_24032186	24006483	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0111 a0004c0002t0001g0111	1	286	0.0035	1	c.210 others(4): Show c.210dupC	p.Lys others(4): Show p.Lys71fs	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding	3/4	466/6272	210/1815	70/604		chrX	TogoVar
KLHL15_chrX_23978720_24032186	24006534	C C	CACTCTGG others(1): Show CACTCTGGG	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0111 a0004c0002t0001g0111	1	286	0.0035	8	c.152 others(15): Show c.152_159dupCCCAGAGT	p.Asp others(4): Show p.Asp54fs	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding	3/4	415/6272	159/1815	53/604		chrX	TogoVar
KMT2B_chr19_35713003_35743878	35733317	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG00741.hp2 HG02080.hp1 others(14): Show HG00621.hp2 HG00741.hp2 HG02080.hp1 HG02132.hp2 HG02738.hp2 HG03098.hp2 HG04199.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18969.hp2 NA18985.hp1 NA18998.hp1 NA18998.hp2 NA19077.hp2	a0005 a0008 a0010 others(1): Show a0005 a0008 a0010 a0017	a0005c0007 a0005c0015 a0005c0017 others(5): Show a0005c0007 a0005c0015 a0005c0017 a0005c0047 a0008c0026 a0008c0027 a0010c0019 a0017c0038	a0005c0007t0001 a0005c0015t0001 a0005c0017t0001 others(6): Show a0005c0007t0001 a0005c0015t0001 a0005c0017t0001 a0005c0017t0003 a0005c0047t0002 a0008c0026t0001 a0008c0027t0001 a0010c0019t0001 a0017c0038t0001	a0005c0007t0001g0001 a0005c0007t0001g0002 a0005c0007t0001g0012 others(10): Show a0005c0007t0001g0001 a0005c0007t0001g0002 a0005c0007t0001g0012 a0005c0015t0001g0003 a0005c0015t0001g0054 a0005c0017t0001g0004 a0005c0017t0003g0067 a0005c0047t0002g0078 a0008c0026t0001g0135 a0008c0027t0001g0106 a0010c0019t0001g0035 a0010c0019t0001g0036 a0017c0038t0001g0006	17	396	0.0429	1	c.677 others(5): Show c.6773dupC	p.Pro others(6): Show p.Pro2259fs	KMT2B	ENSG00000272333.8	transcript	ENST00000420124.4	protein_coding	28/37	6790/8485	6774/8148	2258/2715	INFO_REALIGN_3_PRIME	chr19	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
KRT24_chr17_40692991_40708752	40701882	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02896.hp1 HG02965.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0012 a0001 a0010 a0012	a0001c0001 a0001c0013 a0001c0014 others(3): Show a0001c0001 a0001c0013 a0001c0014 a0001c0015 a0010c0012 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0014t0002 a0001c0015t0001 a0010c0012t0001 a0012c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 others(54): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0013t0001g0082 a0001c0014t0002g0086 a0001c0015t0001g0094 a0010c0012t0001g0156 a0010c0012t0001g0157 a0012c0016t0001g0149	204	424	0.4811	-1	c.666 others(4): Show c.666delT	p.Asn others(5): Show p.Asn222fs	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/8	725/1883	666/1578	222/525		chr17	TogoVar
KRT37_chr17_41415547_41429585	41422807	G G	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA20905.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0020 a0008c0009 a0002c0002 a0002c0020 a0008c0009	a0002c0002t0002 a0002c0020t0002 a0008c0009t0002 a0002c0002t0002 a0002c0020t0002 a0008c0009t0002	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 a0002c0020t0002g0037 a0008c0009t0002g0015	102	409	0.2494	0	c.703 others(3): Show c.703C>T	p.Gln others(4): Show p.Gln235*	KRT37	ENSG00000108417.4	transcript	ENST00000225550.4	protein_coding	3/7	765/1743	703/1350	235/449		chr17	TogoVar
KRTAP19-6_chr21_30536535_30546864	30541662	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0001 a0000c0003 a0000c0004 others(2): Show a0000c0001 a0000c0003 a0000c0004 a0000c0005 a0000c0006	a0000c0001t0001 a0000c0003t0001 a0000c0004t0001 others(2): Show a0000c0001t0001 a0000c0003t0001 a0000c0004t0001 a0000c0005t0001 a0000c0006t0001	a0000c0001t0001g0000 a0000c0003t0001g0000 a0000c0004t0001g0000 others(2): Show a0000c0001t0001g0000 a0000c0003t0001g0000 a0000c0004t0001g0000 a0000c0005t0001g0000 a0000c0006t0001g0000	304	394	0.7716	-1	c.171 others(4): Show c.171delC	p.Tyr others(4): Show p.Tyr58fs	KRTAP19-6	ENSG00000186925.6	transcript	ENST00000334046.5	protein_coding	1/1	202/330	171/177	57/58		chr21	TogoVar
KRTAP29-1_chr17_41296826_41307851	41302321	TGTACAGA others(6): Show TGTACAGATGGTTG	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00544.hp2 HG00639.hp1 others(82): Show HG00408.hp2 HG00544.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02135.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 NA18939.hp2 NA18940.hp2 NA18948.hp1 NA18950.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA21309.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0002c0009 a0004c0006 others(1): Show a0002c0002 a0002c0009 a0004c0006 a0007c0010	a0002c0002t0000 a0002c0009t0000 a0004c0006t0000 others(1): Show a0002c0002t0000 a0002c0009t0000 a0004c0006t0000 a0007c0010t0000	a0002c0002t0000g0000 a0002c0009t0000g0000 a0004c0006t0000g0000 others(1): Show a0002c0002t0000g0000 a0002c0009t0000g0000 a0004c0006t0000g0000 a0007c0010t0000g0000	85	399	0.2130	-13	c.518 others(20): Show c.518_530delCAACCATCTGTAC	p.Pro others(5): Show p.Pro173fs	KRTAP29-1	ENSG00000212658.1	transcript	ENST00000391353.1	protein_coding	1/1	530/1026	518/1026	173/341		chr17	TogoVar

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