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	distance	status	chr	external
ACTL7B_chr9_108849588_108860986	108855929	A A	G G	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG01069.hp2 others(17): Show HG00280.hp2 HG00323.hp1 HG01069.hp2 HG01070.hp1 HG01261.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02717.hp1 HG03017.hp1 HG03239.hp1 HG03516.hp2 HG03540.hp2 NA19043.hp1 NA20752.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0001 a0002c0009t0001 a0002c0005t0001 a0002c0009t0001	a0002c0005t0001g0000 a0002c0009t0001g0000 a0002c0005t0001g0000 a0002c0009t0001g0000	20	470	0.0426	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	58/1399	2/1248	1/415			chr9	TogoVar
ADGRE1_chr19_6882579_6945450	6921702	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0004 a0006 a0007 others(24): Show a0004 a0006 a0007 a0010 a0011 a0014 a0015 a0016 a0017 a0018 a0019 a0022 a0027 a0028 a0029 a0031 a0034 a0037 a0041 a0042 a0045 a0047 a0048 a0049 a0055 a0059 a0061	a0004c0004 a0006c0006 a0007c0007 others(24): Show a0004c0004 a0006c0006 a0007c0007 a0010c0012 a0011c0011 a0014c0016 a0015c0015 a0016c0014 a0017c0018 a0018c0017 a0019c0019 a0022c0022 a0027c0023 a0028c0066 a0029c0067 a0031c0065 a0034c0039 a0037c0061 a0041c0058 a0042c0057 a0045c0053 a0047c0055 a0048c0051 a0049c0059 a0055c0047 a0059c0031 a0061c0038	a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 others(40): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0006c0006t0001 a0006c0006t0002 a0006c0006t0004 a0006c0006t0005 a0007c0007t0001 a0007c0007t0002 a0007c0007t0004 a0007c0007t0005 a0010c0012t0001 a0010c0012t0005 a0011c0011t0002 a0014c0016t0001 a0014c0016t0006 a0015c0015t0003 a0016c0014t0002 a0016c0014t0004 a0016c0014t0005 a0017c0018t0002 a0018c0017t0004 a0018c0017t0005 a0019c0019t0001 a0022c0022t0001 a0022c0022t0006 a0027c0023t0001 a0028c0066t0004 a0029c0067t0002 a0031c0065t0002 a0034c0039t0006 a0037c0061t0002 a0041c0058t0002 a0042c0057t0004 a0045c0053t0007 a0047c0055t0006 a0048c0051t0004 a0049c0059t0001 a0055c0047t0002 a0059c0031t0005 a0061c0038t0001	a0004c0004t0001g0033 a0004c0004t0001g0049 a0004c0004t0001g0066 others(87): Show a0004c0004t0001g0033 a0004c0004t0001g0049 a0004c0004t0001g0066 a0004c0004t0001g0077 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0176 a0004c0004t0001g0177 a0004c0004t0001g0184 a0004c0004t0001g0185 a0004c0004t0001g0186 a0004c0004t0001g0248 a0004c0004t0001g0254 a0004c0004t0001g0280 a0004c0004t0002g0123 a0004c0004t0002g0312 a0004c0004t0004g0114 a0004c0004t0005g0121 a0004c0004t0005g0124 a0004c0004t0005g0256 a0004c0004t0005g0310 a0004c0004t0005g0311 a0004c0004t0006g0153 a0004c0004t0006g0296 a0006c0006t0001g0191 a0006c0006t0001g0192 a0006c0006t0001g0193 a0006c0006t0001g0194 a0006c0006t0001g0195 a0006c0006t0001g0196 a0006c0006t0001g0265 a0006c0006t0002g0064 a0006c0006t0002g0298 a0006c0006t0004g0299 a0006c0006t0004g0300 a0006c0006t0005g0095 a0007c0007t0001g0083 a0007c0007t0001g0107 a0007c0007t0002g0096 a0007c0007t0002g0103 a0007c0007t0004g0309 a0007c0007t0005g0132 a0007c0007t0005g0288 a0010c0012t0001g0001 a0010c0012t0001g0063 a0010c0012t0001g0109 a0010c0012t0001g0209 a0010c0012t0001g0258 a0010c0012t0005g0295 a0011c0011t0002g0138 a0014c0016t0001g0125 a0014c0016t0006g0073 a0014c0016t0006g0074 a0014c0016t0006g0133 a0014c0016t0006g0134 a0015c0015t0003g0112 a0015c0015t0003g0154 a0015c0015t0003g0155 a0015c0015t0003g0156 a0015c0015t0003g0270 a0016c0014t0002g0072 a0016c0014t0002g0104 a0016c0014t0002g0116 a0016c0014t0004g0105 a0016c0014t0005g0117 a0017c0018t0002g0306 a0018c0017t0004g0090 a0018c0017t0004g0091 a0018c0017t0004g0120 a0018c0017t0005g0089 a0019c0019t0001g0048 a0022c0022t0001g0216 a0022c0022t0001g0234 a0022c0022t0006g0264 a0027c0023t0001g0220 a0028c0066t0004g0080 a0029c0067t0002g0152 a0031c0065t0002g0111 a0034c0039t0006g0321 a0037c0061t0002g0297 a0041c0058t0002g0099 a0042c0057t0004g0110 a0045c0053t0007g0094 a0047c0055t0006g0205 a0048c0051t0004g0316 a0049c0059t0001g0330 a0055c0047t0002g0101 a0059c0031t0005g0128 a0061c0038t0001g0147	91	338	0.2692	1	c.162 others(7): Show c.1621-3dupT		ADGRE1	ENSG00000174837.15	transcript	ENST00000312053.9	protein_coding	13/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
AGAP3_chr7_151081475_151149434	151086813	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): 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 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 HG01071.hp1 HG01071.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 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.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.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.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 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.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.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0003c0019 a0004c0016 a0005c0012 a0006c0015 a0007c0014 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0006 a0001c0006t0001 a0001c0007t0002 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0018t0001 a0003c0019t0004 a0004c0016t0001 a0005c0012t0002 a0006c0015t0001 a0007c0014t0001 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(332): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0331 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0109 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0232 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0276 a0001c0001t0003g0281 a0001c0001t0004g0023 a0001c0001t0004g0090 a0001c0001t0004g0221 a0001c0001t0004g0253 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0004g0342 a0001c0001t0005g0005 a0001c0001t0005g0126 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0153 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0006g0337 a0001c0001t0006g0341 a0001c0001t0007g0152 a0001c0001t0007g0156 a0001c0001t0007g0172 a0001c0001t0008g0022 a0001c0001t0009g0204 a0001c0003t0001g0027 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0003t0001g0168 a0001c0003t0006g0340 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0016 a0001c0004t0001g0132 a0001c0005t0006g0336 a0001c0005t0006g0338 a0001c0005t0006g0339 a0001c0006t0001g0019 a0001c0006t0001g0042 a0001c0007t0002g0316 a0001c0007t0002g0320 a0001c0009t0001g0068 a0001c0011t0001g0219 a0001c0013t0001g0213 a0001c0017t0001g0222 a0001c0018t0001g0108 a0003c0019t0004g0292 a0004c0016t0001g0052 a0005c0012t0002g0334 a0006c0015t0001g0124 a0007c0014t0001g0033 a0008c0010t0001g0244	344	354	0.9718	1	c.73d others(3): Show c.73dupG	p.Ala others(4): Show p.Ala25fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/18	341/3494	74/2736	25/911		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151086821	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): 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 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 HG01071.hp1 HG01071.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 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.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.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.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 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.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 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 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 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 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0003c0019 a0004c0016 a0005c0012 a0006c0015 a0007c0014 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0006 a0001c0006t0001 a0001c0007t0002 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0018t0001 a0001c0020t0002 a0003c0019t0004 a0004c0016t0001 a0005c0012t0002 a0006c0015t0001 a0007c0014t0001 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(341): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0331 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0109 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0232 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0276 a0001c0001t0003g0281 a0001c0001t0004g0023 a0001c0001t0004g0090 a0001c0001t0004g0221 a0001c0001t0004g0253 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0004g0342 a0001c0001t0005g0005 a0001c0001t0005g0126 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0153 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0006g0337 a0001c0001t0006g0341 a0001c0001t0007g0152 a0001c0001t0007g0156 a0001c0001t0007g0172 a0001c0001t0008g0022 a0001c0001t0009g0204 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0003t0001g0027 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0003t0001g0168 a0001c0003t0006g0340 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0016 a0001c0004t0001g0132 a0001c0005t0006g0336 a0001c0005t0006g0338 a0001c0005t0006g0339 a0001c0006t0001g0019 a0001c0006t0001g0042 a0001c0007t0002g0316 a0001c0007t0002g0320 a0001c0009t0001g0068 a0001c0011t0001g0219 a0001c0013t0001g0213 a0001c0017t0001g0222 a0001c0018t0001g0108 a0001c0020t0002g0315 a0003c0019t0004g0292 a0004c0016t0001g0052 a0005c0012t0002g0334 a0006c0015t0001g0124 a0007c0014t0001g0033 a0008c0010t0001g0244	353	354	0.9972	1	c.81d others(3): Show c.81dupG	p.Gln others(4): Show p.Gln28fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/18	349/3494	82/2736	28/911		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151086831	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): 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 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 HG01071.hp1 HG01071.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 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.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.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.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 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.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 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 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 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 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0003c0019 a0004c0016 a0005c0012 a0006c0015 a0007c0014 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0006 a0001c0006t0001 a0001c0007t0002 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0018t0001 a0001c0020t0002 a0003c0019t0004 a0004c0016t0001 a0005c0012t0002 a0006c0015t0001 a0007c0014t0001 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(341): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0331 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0109 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0232 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0276 a0001c0001t0003g0281 a0001c0001t0004g0023 a0001c0001t0004g0090 a0001c0001t0004g0221 a0001c0001t0004g0253 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0004g0342 a0001c0001t0005g0005 a0001c0001t0005g0126 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0153 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0006g0337 a0001c0001t0006g0341 a0001c0001t0007g0152 a0001c0001t0007g0156 a0001c0001t0007g0172 a0001c0001t0008g0022 a0001c0001t0009g0204 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0003t0001g0027 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0003t0001g0168 a0001c0003t0006g0340 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0016 a0001c0004t0001g0132 a0001c0005t0006g0336 a0001c0005t0006g0338 a0001c0005t0006g0339 a0001c0006t0001g0019 a0001c0006t0001g0042 a0001c0007t0002g0316 a0001c0007t0002g0320 a0001c0009t0001g0068 a0001c0011t0001g0219 a0001c0013t0001g0213 a0001c0017t0001g0222 a0001c0018t0001g0108 a0001c0020t0002g0315 a0003c0019t0004g0292 a0004c0016t0001g0052 a0005c0012t0002g0334 a0006c0015t0001g0124 a0007c0014t0001g0033 a0008c0010t0001g0244	353	354	0.9972	1	c.91d others(3): Show c.91dupG	p.Val others(4): Show p.Val31fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/18	359/3494	92/2736	31/911		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGAP6_chr10_49983406_50015499	49988768	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show HG00140.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02280.hp1 HG02602.hp2 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp2 NA19054.hp1 NA19062.hp2 NA19082.hp2 NA19086.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0031 a0003c0003 a0003c0014 a0003c0031	a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 others(3): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 a0003c0014t0003 a0003c0014t0008 a0003c0031t0003	a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 others(25): Show a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0053 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0225 a0003c0003t0003g0226 a0003c0003t0003g0227 a0003c0003t0003g0228 a0003c0003t0003g0229 a0003c0003t0003g0231 a0003c0003t0003g0232 a0003c0003t0003g0233 a0003c0003t0003g0234 a0003c0003t0009g0025 a0003c0003t0010g0024 a0003c0014t0003g0220 a0003c0014t0008g0026 a0003c0031t0003g0230	39	406	0.0961	1	c.55d others(3): Show c.55dupC	p.Gln others(4): Show p.Gln19fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	1/8	366/2684	56/2061	19/686		INFO_REALIGN_3_PRIME	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50008914	CAA CAA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show HG00140.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02280.hp1 HG02602.hp2 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp2 NA19054.hp1 NA19062.hp2 NA19082.hp2 NA19086.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0031 a0003c0003 a0003c0014 a0003c0031	a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 others(3): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 a0003c0014t0003 a0003c0014t0008 a0003c0031t0003	a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 others(25): Show a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0053 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0225 a0003c0003t0003g0226 a0003c0003t0003g0227 a0003c0003t0003g0228 a0003c0003t0003g0229 a0003c0003t0003g0231 a0003c0003t0003g0232 a0003c0003t0003g0233 a0003c0003t0003g0234 a0003c0003t0009g0025 a0003c0003t0010g0024 a0003c0014t0003g0220 a0003c0014t0008g0026 a0003c0031t0003g0230	39	406	0.0961	-2	c.791 others(9): Show c.791_792delAA	p.Lys others(5): Show p.Lys264fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1101/2684	791/2061	264/686		INFO_REALIGN_3_PRIME	chr10	TogoVar
AKR1E2_chr10_4821207_4853062	4847211	C C	T T	stop_gained stop_gained	HIGH	HG01175.hp2 HG01346.hp2 HG01928.hp1 others(8): Show HG01175.hp2 HG01346.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 NA18522.hp2 NA20905.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0007 a0003c0004t0005 a0003c0004t0007	a0003c0004t0005g0023 a0003c0004t0005g0039 a0003c0004t0005g0045 others(6): Show a0003c0004t0005g0023 a0003c0004t0005g0039 a0003c0004t0005g0045 a0003c0004t0005g0144 a0003c0004t0005g0146 a0003c0004t0005g0147 a0003c0004t0007g0023 a0003c0004t0007g0078 a0003c0004t0007g0145	11	358	0.0307	0	c.901 others(3): Show c.901C>T	p.Arg others(4): Show p.Arg301*	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	9/10	1019/1613	901/963	301/320			chr10	TogoVar
ALDH3B2_chr11_67657155_67679623	67674435	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.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.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.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.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.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 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 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 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.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 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.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 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.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 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.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 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021	a0001c0001 a0001c0007 a0001c0009 others(23): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0024 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0012 a0008c0013 a0009c0010 a0010c0014 a0011c0016 a0012c0018 a0013c0019 a0014c0020 a0015c0023 a0016c0021 a0017c0017 a0018c0026 a0020c0028 a0021c0027	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0007t0001 a0001c0007t0012 a0001c0009t0005 a0001c0011t0001 a0001c0015t0004 a0001c0022t0001 a0001c0024t0001 a0002c0002t0002 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0012t0010 a0008c0013t0008 a0009c0010t0001 a0010c0014t0016 a0010c0014t0017 a0011c0016t0006 a0012c0018t0018 a0013c0019t0001 a0014c0020t0001 a0015c0023t0001 a0016c0021t0001 a0017c0017t0009 a0018c0026t0014 a0020c0028t0002 a0021c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(194): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0006g0196 a0001c0001t0007g0043 a0001c0001t0009g0144 a0001c0001t0011g0052 a0001c0001t0013g0137 a0001c0001t0015g0135 a0001c0007t0001g0022 a0001c0007t0001g0057 a0001c0007t0001g0060 a0001c0007t0001g0095 a0001c0007t0001g0099 a0001c0007t0012g0106 a0001c0009t0005g0086 a0001c0009t0005g0087 a0001c0009t0005g0088 a0001c0011t0001g0056 a0001c0011t0001g0058 a0001c0011t0001g0059 a0001c0015t0004g0049 a0001c0022t0001g0142 a0001c0024t0001g0153 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0027 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0019g0175 a0002c0002t0021g0177 a0002c0002t0022g0184 a0002c0002t0023g0178 a0002c0002t0024g0211 a0003c0003t0001g0012 a0003c0003t0001g0021 a0003c0003t0001g0033 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0105 a0003c0003t0001g0170 a0005c0005t0001g0004 a0005c0005t0001g0092 a0005c0005t0001g0094 a0005c0005t0001g0100 a0005c0005t0001g0110 a0005c0005t0001g0111 a0006c0006t0001g0005 a0006c0006t0001g0112 a0006c0006t0001g0114 a0007c0008t0001g0029 a0007c0008t0001g0061 a0007c0008t0001g0063 a0007c0008t0001g0064 a0007c0008t0001g0065 a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 a0008c0013t0008g0067 a0009c0010t0001g0026 a0010c0014t0016g0084 a0010c0014t0017g0083 a0011c0016t0006g0050 a0012c0018t0018g0171 a0013c0019t0001g0107 a0014c0020t0001g0108 a0015c0023t0001g0162 a0016c0021t0001g0149 a0017c0017t0009g0133 a0018c0026t0014g0085 a0020c0028t0002g0180 a0021c0027t0002g0174	373	390	0.9564	0	c.-24 others(6): Show c.-245+1T>G		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9						chr11	TogoVar
ANKRD30A_chr10_37120598_37237567	37170147	GTTTTTTT others(11786): Show GTTTTTTTTTTAATAGATGACTGTGTGTGTGTGTGACTTATAATTTTAAA AAATCAGTCAAGCAATCATTACTTGATGACTCTTTGCTAGGCACCGCATT TTAGAAGAGTGACCCCAAAGCATTTGGCCTTGGTGTGTTTTAATGCTACT GTAATGAATTGCCTAGAGATACAAAAGAGCCTGAAGTAGTTTTTGTCATT CCCGTGAACGTTTACAACATTTTACAACAGGCCTTGCACGGTGGCACATG CCTGGAATCCTAGCAGTTTGGGAGACAAAGGCGGGCAGATAAGTTAAGGT CAGGAGTCCCAGACCAGCCTGGTCAAACTAGTGAAACCCCATCTCTACTA AACATAACAAAAAATAGCCGGTTGTGGTGGTGGGTGCCTGTCATCTCAGC TACTCTGGAGGCTGAGGCAGGAGAATGGCTTGAACCTAGGACGCAGAAGT TGCATGAGCCGAGCTTGTGCCACTTTAGCCTGAGTGACAGAGTGAGACTC CATCTGAAAAGGTAAAGAAATAAAAACACAAAACTCACAACATATGTGTG GTTATAGACTATGTGTAGAATTTGTTTTCATGTCTTATAGGCTGTGTGTA GAATTTGTTTTCATGTCTTAAATTTTCTTTTTTTTTGTTTGTATTTTTTT CTTCAGTTTTTTTGTTTGGTTTTGTTTTTGTTTTTTTGAGATCACCCAGG CTGGAGTGCCATGGCGCCATCTCGGCTCACGCAAGCTCTGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTCCAGGTGC CTGCCACCACGCCCGGCTAATGTTTTGTATCTTTAGTAGAGACAGGGTTT CAGTGTGTTAGCCAGGATGGTCTGATCCGGATCTCCTGACCTTGTGGTCC GCCCGTCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGGCACCGTG CCCGGCCGATGTCTGAAATTTTCAATAAATAGTTGTACGCTGTACATATT GTCCTGGAACTTCCTTGTTTGCTTATCGAATATTTTAGATGGACCCAATA CAATTAGCTCTGCTTTGATTTAAGGCCTCATAGTTTGCCATGTTAACTCT AAAACACATTTAATTAGACTGTGTTTCCTAGCCACTAAAAGTCGACATTA AATGGCAGCTGATATCACAGAGCTTTTACTGAAGTGGGAGTATTTACTGC TTCATTCACTGTTAGAAATTAAAATGAAAATATTTAAAATACACGAATTG GAAAAGTCCTACTTTCCAATACGCATTACAACTGTTACTCATTAACCATG AAAATTATGACATTGTGACATGTCATGAGTCTGAAAAATTTTAGTTTACA CTTTTTAGAAAATATCAGTAAATAGGAGAAATAGGAAAAACATTATGGCC CCCGGTGTATTTGTTGAACTTCAGAGATGCTCAGATCAGAAGCTAGAACA AGAATTTTCAAAAATGCATAAGGTTTTAAAGTGCCAAATAACAAATGGGC TCTTGTATATGAAATAATGTCTGAAGTTGCACCTCTGAGTCTTTTTTCTC TTTTTCTTTTTTAAAAAGATATAAATCAAACAAAATCAAACTTTTGTTTA TAATGAAAAGAGTTGGTTACAGATTCATTCTGTGTCTCATGGCACTGTGC TCTCTTTTTCCCTAGAGAGGATCTAGACTTTTCATCTGTTTACATGGGAA GAAGTAGTTCAGTTTATGGTCTCATTTCTCATATAAACTGTGAAAATTCT CCACGGCTTCACATGCTAGTTCAGAAGATATTGATGCCTTGAGAATAAAG CATCTGGTTGTCACTCCAGCAGTTTTATATTTAAAGTATACCTAATATAG TTGTCAACCACATTACTTTAGAAAACATAAACAAAAGATAGTTACACTTA TTTATTTAAAAAATGGTGACCGGGTGCGGTGGCTCACGTCTGTAATGCCA GCACGTTGGGAGGCCGTGACTGGCAGATCACGAGGTGAGGAGAGCGAGAC CATCCTGACTAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGACGTGGTGGCACGCACTTCTAATAATTTCTCAGGCGATGCTGC TGCTGGTGGTCCTTGGAGCTTGGTCTGAGTAGCAAAAGGAGAGGCCTTTC ATGGGAAAATAGTGGAAGAAGAGCAGTTGGATAGAAGGTCAAGACATAAC AGGGTCAAGAGAATGCATTATATTGCTTTTATTTCTGGGTATGCTTTTAG CCAGAGAAGAAGAAGAAAAAGATAAACAGAAATTATAGATTTAAGATACT ATCACTAAACAAAGAGAAAGGAAATGTTGAACAAATAAATTTGAAACAGT GTTGTATGGGAAGAATTCTACAGAGTTAGAGGTTTTTTTTTAATTTCTTT TTTTTTTTTTTTTTTTTTTTAGTAGAAGCATTCAAGTCAGGTAACGGGAC AAACAAGAAAGAATGTAGGCAGGTAATTCTGGAGACTCTGAGAAGAACAG TTGAGTGAACTCACTTCAGATGCATGTAGATTATTTGCACTCCAGAATGT AGACTGTGGGCACTCCAGAGACTACCAGAATTGGGGGAACCACAGTGACT CATTAGGTTTCTCTGTTACAATCAGGCATGAGAAATATATATATTTTGTT GATGTTAGCTATTGAAATGAGATATATTGGAAACTGAGAACATTGGCTTT ATGTTTAAGGAAGTGTGTTGTTTTGGTAAAATTGCCATTCCACAAAAATT TATTATAGACTAATGATACACCAAACCAGGCGAATTGTAGGATCTGAAAA AATACTGAATTTATACTTGAATAATAAGATTGCTTTTTAAGATAAATATT GTGGTGACTTAACAATATAAAAAAAGTTACTTATGTTTATTTAATCTATT GCAATAAATTTTTATATAAATATGTCAATATTGAAAGCTTAGTATAGATT ATTTCCATGATGAGTTTTACACATCTTGCATGAGTGGATCGAGAAGCATT CAGATGGATAAAGTAGAGGATACAGAATCATAGGCATATGATTACACCCT ATGGTTATGGAAAAAAACGAATATTCATATTTAGTATTATGACCTAAGTG TATATCCAAGCTGATCAATTCATAACACTTCAGTGATGAGATGTCAGTTG TACATTCGGCTGAACTCTCATCATAACTATGTACCTTTCCAAAGATAGGC TATATTAAAGAACAGGATGAATGGAATAATATAAGTGATTCTAATGTGTT TCATTAAGTACGTGGCGTAGCATTCCATGTTCAGCTTTGACATTTATTTT CTCATATCAACCCTTTTTACACGTGAAACACAATCTCGCTCTTGAAGTCT TAACTGCATGATCTGTGAAACCTGTATTTATATTTTCTTCAGTGTATTCT TGTCGTGTGTGTGTCCTAAACAAACCAAAAGAAAACTTTCCAAATCTAAA GTATTCATTCTCCAATTGGAGCAAGAGGAGTCAGTTAGATACTATCACGG CATTCATTTGTGGCTGGCTTGTCATATTTACTTATGATTGATAATAAATC TATTTTGCTTTTTAGAGCCTCCCGAGAAGCCATCTGCCTTCGAGGTATTT AGTTTCATGATTTCATTTTGAATGACTTATTAACTATGTATTTTGTGAAG TATACATTCTTTATTAATCATTTTGCTTCCAACCCCATTTAGCCTGCCAT TGAAATGCAAAAGTCTGTTCCAAATAAAGCCTTGGAATTGAAGAATGAAC AAACATTGAGAGCAGGTAAATTTTTTAATGGAACTATGCAAAGACCAATA TTTCAATATTGGACATTTTGATGGTCCTTCTATCCCCAATGCTTTATTTT TTTCAACTTTGATGAAAAGATTTGATCTAGGTAATGCCAATACTGGTATT GATGTTTGAAAAGCTGGTATTACAAGCACAGTAATTTTCAATATCTTTTT TTAAAAATGTAGGCTTAATCTCAGATGTTTCTACTTTTGTATCCTGAAAC TGTAATGTTTTCTATTTTGAACTTCTGTATTTCTTAAGGATTCAAGAAGG TGAATGTTGAAACTCCAATTTCTTTTTTTAGCTCTTCGAAGCTTGATTCA AATTCCACGGTTTACTTCGGGGATCCCATCTCTTACTGATATAACCCTTG TGTTTTAACATGAATTACCTTGTTTCCGGTGTTGTCACTTTGAGAATCCT AAGAAAATCAGTAACTCGGACTAGTGAACTCTGTGTGTTTATGTGTGTGT GTGTCTGCGTGTGTGCCTGCGTGTGCCTGTGTGTGTGTGGTACCTTTACC TTGTAAAGATGAGGAAAGGAATTATTCATTTCTTTGTGAATATTTGATAA ACACACTTTTTCATGAAACTGTGATTCTGAAGCATTTGGCTTTAGAGTCC TTTTACGCTAGTACCATTTATTGCCTGGAAGTAACCAATATTCTAAACTG TTTTTAGAAACTCTTCTTATGCATGTTTAAACATTTTACAACATGTGTGC GTGGTCATATTTAATATGTACGATTTTTTTCAACTTCTAATGTGTACATG GTTGTAGAGTGTAGTGTTCGGCAACATTCTTTTTTGATCAGCATTATAAT TTTTAGAGACATCCGTAAAGGACACAATTAATTGTGTTTTTAAATATTAG GTTATTTATAAAATTCCATTGTATGACAGTACCATAGTTAATTGCACAAT TTTTATGCCGAGAAGTAATAAATAAAACTGAAAACATGCAAATTTGGGAG TCTTTAAAAAGTTAGTTTTATCTGCTGATTTCTTAGTCATTAGAAATTAA AAGTAACATATTTAAAGTATTTCCTTGTGCAATCATACACTCCACTAAGA ATTTGAACTGTGCCCCACAGCTTCTTAGAGCTATGGTGTGGCAACACGTT AGATCTCTGAAACGATCCAGGGTACGCTTCTAAAAATGAGTGAACATGGT GACTTACCAAAGTGTGATTTGAGTTTCCTGGACCCTCTGCATGAAATGTG AACATGAGCTATGCTGAGATCACAAGTTAAATTTACTTTTGAAACCAGGT ATACAGTTGATGGATGTCAAATGATAAACGTATGCATAGTGATGAAACGG TCTTTTAAGTTTTAGGTGTGCATGTTTGCTTTTTTCCTGAACCTGATTCA AATAGTTGTAATTTGTACTTTGTGCTGATAAAGAAAACTGGACGTTATTT TTGGTATAAATTCTTTTTCTGTCTTATGTCCCTGAGAACTCGTCAAGTCT TGAGTGGGCCTTGATTTTATCCTATTACACGTGGGAACATTAGATTACTT AAGGCAATTATATTTTCCTATACATTTCTGATGTTTCTCCAAGGTGTCAC AAGCTGACTCTGAAGATATTGTTGCATTAGGGAAGAAGTGTGTCATTGTA AATGAAGCAGTTCTTAATTTATACGCAATAAAAGTTTTTTAAGCTTATCT TCCTAAAGCTTATACACACGCAAAACACACCCAATACACTGTCATAGCAT ACTGAAATGTAAAAGGGTTGGACATATAGTTGACTGACATCAAAAAGTTA ATATTTCTAAAACATCTTATTCATTGATAAATCATCTTTTTTGAAGAACT GTGTAAGAGAGATTGCTGAGTCAATCAATGTAAGTAATACTACCAAATAA AAAGTAACAAAGAAATGAGAGATGATAGGTAATTCCAGTTTTCTGAATGA ACAGGAAACCTAGGGCATACTGCGCTTCACAGGAGAATAGGATATGACTG CTTTGTGAAGAGATAATTCATACAAGTTAGTTAAATTTCTATTTTTCTGC ATTCTAATGAAATAATGTTAATTTTCAGACTTTTTAGATTTCAGTTCTAT TGGAATGACTATAGAAGTAGTCATTGCAATCAACAAAAAGAATATACGGG CTACAGAGGAAAAACCTCAGATTCGTGAATGAAAGTAGATTTGTATATGT TTTTAAAATTTTTAGTAGAGAACTGTGCTCATGAATGTATCTGTGATTAA CCTTTTATAGATGAGATACTCCCATCAGAATCCAAACAAAAGGACTATGA AGAAAGTTCTTGGGATTCTGAGGTACTATGTGTTATTGATTTTTTAAATA TTAGTATTGCATGATATGAAAACATAAAATCAGATGCTTAGACTTTATGT TCTCACCTCTGCATGTGTCACCCCCAAATTATTTTTGATATTTTTCAGTA TATGCTTAACGGAGAATCTGTGTGCTAAGTAGATTCCTGCTTCACAGTGA AATTCTGGGAATTTGTACGATTAATTTAAGAAGCCAAAGTGGTATAGTGT AAAAACTAAGGCTTAGAATTCACTAGAAATTCACATGGGATCTGGAGTAC TTTTGTCTAAAAGGAAAAGAATTACACTGAGTCCAGCTATGGGCAAATAT ATGATTCTGTCTTATATCTAGAGGTAGAAAAGTTCTAATTGTATTCATAG AGAGACACTTTAAACTGCAATATTGTAAAAGTTGGGACCTGAAAATTTAA TGCCTGGGACTTGAACGTATTGACATATCTTTATTGTTCAGTATAGATCT GAAGGAACATTTCAGCAGAAAGGAAAGCATGAGGAATAGGAAACCTTGTG GGAGTATAATAACAAGAGTATTGGTTGAGTAGTCTTTTGAAAAATATAAA TTATATTTTCGCAAATAGAACTCCTTGAGTCCCCTTATGGCAGTCAAGCT GAAGCAGCATGAGCGTCATATCATAGTGATGTATTTTAAGGTCACAACGG CGGAAAGACATAGAAAGTATCTGACCTCTTAGAAACAAGCAGCTGCTGCC TGGTGGTAACAGCAAAGGGTGGAAGTCAATAGGTAGATTTTATCTGATAT TTTATTAGACAGAAAGACTTTAACACTTGTTTGCTTTCATTTAGATGTGA CATAATTTTTTTCTTACTGCATTTACATTCTATTCAAACACTTTTTCTAT CACCAAAAATTTTGTCAAAAACATGTTGCTTATTTTAAGCCCCTGTTTAC CGAAAGAAAGCAGCTTTTTCAAATTCTGTACATACATTCTATGACAGACT CTAAAAGTTCTCTTCGTGACATGCATGATTTTTAACAGTAAACAGTTCTA TGATCGTGAATATTTTAAATGTTTACTGCTGTATGTGTCCCGGCAAGTAG CAAATGTGTTGTATTTTGTTTGAAATGTCTTATTTATTTTTGATGAGGAC TAGAACGTAAGTTAGATATTTTTAAGAGAGATACTTTTTGAAATATGCAC GAGTGAATTTTTTGTGAAGGTGATTTGTTTTTCCTGCTCAGTCACCGAGT TAATGGCCACGTGAACGTAAAGATGAGCTTGATGTAGAGAGGGTTATGTG AGGTTTTCTATCAAAATGTGTTTGTTTTCTACATGTATCTGCTCTTAAGT CGAATTGTTTGCAAAGGAGGAAATTGTGTTTTTAAAAAAGAATTTAATTA GGAAATTTTGATACTCTTCATTACTAGGATTTATCCATTGAAATTATTTA TTGCTATTACTTTTAACAGAGTCTCTGTGAGACTGTTTCACAGAAGGATG TGTGTTTACCCAAGGCTGCGCATCAAAAAGAAATAGATAAAATAAATGGA AAATTAGAAGGTAAGAACCGTTTTTTATTTAAAAATCATTTGACCAAATA TTTCTCTAAATTGATGAGGAAGGATATCCTCTAGTAGCTGAAGAAAATTA CCTCCTAAATGCAAACCATGGAAAAAAAGAGAAGTGCAATGGTCATAAGC TATGTGTCTCATCAGGCATTGGCAACAGACTATATTGTGAGTGCTGAAGA GGAGCTGAATTACTAGTTTAAATTCAAGATATTCCAAGACGTGAGGAAAA TGAGAAAATAAGAAAGAAGAAAGTAGTAATAGAGTAAATGAAGACTGAGA AAGACAGAGCGTACAGAGAGTACATGAAGGAACAAGAAACAGGTTTATGT AATGGAGGATGATAAAATGAAATGATTGTTTAGGAAAAGATCGGGTATGG TTAGAAATTTGGGAAGAATATAATGTGACCTTCTAGAATCAAAATTTACC AGAGAATTACAGCAAAAATATTCTGACTCTTAATGTCTTTCTCACTGGTG GGAAGCCATTAGGGATGGAAGCACCTGACCATGGAGAGCTGTGTTCTATT TGCAATAGGTGAGAATAAGCATATCTGCACGGCCACACATGTATATAAAT TGTCATATACACTCCGTATAGACCAGAGGTTTTCAAACTTTAGAAAGTCA GCTGAAAACCTTGTTAACAATTCACACTGAGATTCAGCCGACCTGGGATT CTGCATTTTTAAAAAGTTCTCAGGTGATGCTGATGCTGGTGGTCCTTGGA CGTTGCTCTGGGTAGCAAGAGGAGAGGCCTTTTGTGGGAAAAATGTGGAA GCAGAGCAACTGGATAGAAGGTCAGGACAGAAAAGGTCAGGAGAAAACAT CATGGTCCTCTTAATTTTGAGGATGTTTTTAGTCAGGGGAGAAGAAGAAA GGAGCAATGCAATAGAAATTATAGATGGAAGGTACTACCACTCCTCAAAG TAAAAGGAAAGAGTGGGAAAAAATAATTTTAACAGGTGTCGAATGGGAAG AATCAAGAGCACAAGTCTAGTGATTATTTTTGCTAAAGCAGAGAGATTGT GAGGCAGGAAGCAGGGGACAAGAGAGAAGCCAGCTAGATGATTTTGGATT TTCTATGAAGGAAAATGGAGTGAGCTCACTTCGGAAGCATTTAGAAAAGT TTTACTGCAGAATGTTAGAGTGTGGGTGCTCTGGAGACTACTGGAATCAT GAGGATTACTAGAATTGGACTAAACCTCAGTGACTCATTAATTTTCTTTA TTACTATGAGGCGTCAAATATATATATATATATATATATATATATATATA TATATATATATATATATAGATGTGTGCATGTATGTATGTTTTTGACGTTC ACAATTTGAATAAGATATACTTGAATGTAAGAACCTTGGCTTTATTTTTA AGGAAGCAAATTGTGTTGGTAAAATTGCCATTTTATAAAACCTCATTAGT AAATAACATGCTACACGAAACCAGACTAATTTTGAAAACCATAAAACTCT GAATTTATGACTTGAATACCTAAATTGTTGTTATTCGTAGGTATTTTACT GATTTTAACGTAGAAAATGTTATTAATATTTAAAAGTCTGTTGTAACTAA ATTTAAATGAAATACATCAATATTGAAAGCTTATTAAATTTGCTATTCCT GATGAGATTTGTACATCTTCCTGCATGAGTGGATTAAGAGATATTGAGAT GACTAAGCTAGAAATTACAAAAATGTTGGCATACTATTCCTACATTATGG GAATGAATACCCATATTCCAAGTATATGGGTATGAAAATCAAGGAATATT TATATTTAATATTATGCTCTAAGTATATATCCAAGCTGATCAATTCATAA CACTTTTTCTGATGAGATGTCAATTCTACATTCAGCTGAACTCTTATCCG AACTGTGTGGCTTCTCAATGACAGGACATATTAAAGAACATGATGAATGT TTGTAATGCAATGATATAAATTATTATAATGTGTTGCCTTAAAGACACAT GGTGTAGCATTCTACGTTCAGCTTTTGCATTTATTTTCTCAGTGTCATGA TTTGCTCCTGTGATTCCAGATCAGTTGTCTCCTTATCAGTCAGCATATAC TTATTGGTATTAACACTTTTTGCAAAAATCATATATAAATGGTTGTACAA TGTTGTTGTCATTCTACAGCAACTTTTTAATTTTTGTTCAGCGATTAGCT TGTTTTTCATTTATTTTAAGATTTCAGGCCAGGTGTGGTGGCTCACGCCT GTAATCCCAGCACTTTGGTAGGCCAAGGTGGGTGGATCACGAGGTCAGGA GATCCAGACCATCCTGGCTAACATGGTGAAACCTCACCTCTACTAGAAAT ACAAAAAATCAGCCGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTC CGGAGGCTGAGGCAAGAGAATGGCGTGAACCCGCGAGGCGGAGCTTGTGG TGAGCCGATATTACATTATTGTAACATTGAAATATGCAGGTGAATGATAT ATAAAAAGCCTCTGGAAGTTTACTTCTAGTTTTTGATACTTTCACGTTAC GTGTTTTTTCTTTTTTAGAGACAGAGTCTCGCTCTGTCATCCAGGCTGGA GTGCAATGGCATGATCTTGGCTCACTGCCACCTCCAGCTCCTGGGTTCAA GTGATTCTGGTACCTCAGTCACCCAAGTAGCTGAGATTACAGGCATGTGC CACCATACCTGGCTGATTTTTGTAATTTTAGTGGGGACAGTGTTTCTAAA ATAGTGATTTTGGCCAGGCTGGTTTGGAACTCCTGGCCTCCAGAGATCCG CCCTCCTCAGCCTTCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCAC CTGGCCTGTATTGGTTTGTTGATGGGTACGCTTGGACCTTTTTGTATAAG TGGATCAGGAAATTTTAAGAGGACTAAACTAGAGAACCCTATGAATGTGA AAATACTCGTATTTCACAGAGGTACAAAAATGAATATATTTATTAACTTT TATTCTATAGGTAGATATGCTGCTGAATTTAGAACATTCTCTGCAATGAT AAGTACGTTGTACCTTTGAACTCTCATCACAACTTTGCAATTCCTAAACT CCAGGACAAATTGAAGGACATAATAGCTACATGTATATATTGACATAAGT GATTCTGACGTGTTTCCTTAACAATATGCCATAGCATTCTCCCATTAGCT TAGTCATTTATTCTGTTTTGGTGGGGTGTGGCATGACTTGGTCATCTTAT TAAATACAACTTCTTTCCTAATACGGCCGCTTTCTCTTACTGATAGTAGG ATATTTCTGCTTTAGTTATTGTCACCTTAAATATATTTTCAATGTTGAAA TCCTCACAGCATGTTTGATGAAATCTAGTTTTCAAATTTTCTTAGGTATA TTTCTGTCACGTTGGCATGATAACAAATGCAATAACCCAAAAGACCCCAA AAGCTAGTGTAATCCCTTTTGCAATCCAAGCATGAGGATTCATCTTCATG TTGACAGTGCGTGAATGTTCGGTAGGCTTTGTCAAGCTTGCATACAATAA ATTATATATGTCCCTTTTCTTTTAGGGTCTCCTGTTAAAGATGGTCTTCT GAAGGTAATAACTTTTATATTTTTATCTTGAGTATTAACTACATATTTTA TGAAGTATACATTGTATATTAATTGTTTTCTTTCCAAACCCATTTAGGCT AACTGCGGAATGAAAGTTTCTATTCCAACTAAAGCCTTAGAATTGATGGA CATGCAAACTTTCAAAGCAGGTAAATTTTGTAATTTTAATTTTACTCTGG AAAGAAGAATATTAAAATATTTGAAATGCTGTGAGACTTTTCATTCCCAA TGTTGTTTTCTATTCATAATTTGATGGGAAATTTCGATACAAATAATGCC AATGTGAGTATTTCTGTTTGAGAAAATGCCATTTACAAGCATAAGATTTA GAGATTTAGAAAAAAAATTCTGCTTTACCTCATGTGGTTCTACTTTAATG TCCTGATCGGATAAAGTTTCCAATTTGCAATTTCTGTACGCGCTTGGTTT TAAGGTAGGTGAATTTTGAGACTGTGAAATATTTGCAGTGGTTCGAAGGC TGATTGGAATTCTGATGTTTACTCAGAAGAAAGTTTCACTTGCTGACATG ACAGTTGTGAGTGTTACCACTCTGAGAATCTTAAGAAAATCAGT	G G	exon_loss_variant exon_loss_variant	HIGH	HG01981.hp1 HG02056.hp2 HG03098.hp1 others(15): Show HG01981.hp1 HG02056.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 NA18961.hp2 NA18965.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA19004.hp2 NA19006.hp2 NA19012.hp1 NA19083.hp2 NA19090.hp1	a0004 a0010 a0020 others(1): Show a0004 a0010 a0020 a0044	a0004c0004 a0004c0054 a0010c0012 others(3): Show a0004c0004 a0004c0054 a0010c0012 a0010c0040 a0020c0053 a0044c0024	a0004c0004t0002 a0004c0054t0002 a0010c0012t0001 others(3): Show a0004c0004t0002 a0004c0054t0002 a0010c0012t0001 a0010c0040t0001 a0020c0053t0002 a0044c0024t0001	a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 others(15): Show a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0002g0273 a0004c0004t0002g0274 a0004c0004t0002g0275 a0004c0004t0002g0277 a0004c0004t0002g0278 a0004c0004t0002g0279 a0004c0004t0002g0283 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0054t0002g0268 a0010c0012t0001g0205 a0010c0040t0001g0042 a0020c0053t0002g0281 a0044c0024t0001g0006	18	286	0.0629	-11793	c.225 others(18): Show c.2257+433_2421+5731del		ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	22/36					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD36C_chr2_95844548_95996824	95918788	GTTAGATA others(1872): Show GTTAGATATTGAGCAGTTTTTCATTCAGAAATCACTGCAATATTCATTGA AAATGACCATTTTAGGAGTTAATTAGAATTCAACATAATTTTTGTTTCTA AAACATGATACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAGTTTCAT GAAATAGCTATTTCACCCAAGAGGTAGCTCCTGGAACAAGGAAGCCAATG TATTCATATTCAAGTTTATCTCATTTTTATAAGTAAAGTCAACAAAACAT GTATCTCTGATGCCTAATAGTAACAAAAAGGAGTAATGAGTCAGTGTGCT TTATCCCAATTCTAGCATTGTTTCCTGCTTCCAGTAGTTCCTGGAGCTGC CAAAATCAAATATTTTTTAAGCACATATTCCAAATGCAAGTGAAGTGAGT TCACTCAGATTTCCTCAGCAGAAACCCCTAAATTATATAAATAACTTCTT TTCCCTCCTTCCTGCCTGACAATCCATCATCCTTGGGAAAATAATTGCTA CATCAGGGGTCTCCTTAGTTCTCCTTCTACAGTGTCTATAGGTTATTAAT ATCAGTTTTCTGTCTTTTCTTAGCAGTACGATGTGACGTCTGTAAAATCT GTACTTCCTCTCTTTCTCCTTCCACCCTTAGTGAAACCATGCTGTAGAAT TAATGCAAAACTATGCTGTTCCCCAGAACCCCTTATGTCTTGAACTGCTC TCCCTATTTCTTCTTCCCAATTTCAATGTGGGAAAGTGTATAATCTTACT GCAAAGATCATGTTCCAGGCCAACAGCATTAGCGTCTCCCAAGAAATTTA TTACAAATGAAAAATCTCAGGCCTGCTGAATCAGAATGTGCAGCTTCGGC GACTCCCCCCACCCACCCTCCGCTGATTTATTCGGGATAGAGAAGTTCTT TTTTATCTGGATTGAACATGACATTGAATGTGTTTTGCAAATTACCTGTC TCAGATTTTTCTCCATCCTTTATTTCTGTGGCTATATTCAAAACAGAATC TTCCTCGTCAGTTGTAGCCTGAATGGAATTTGAAAGAAAATAATAAATAA ATAAATCAATGAAGTATGTGTCATAGACTACAATGTAAATGAGAGTTTAA TTACCTTCAAGGCTGGTTGTTTCTGAGAAGACACTGAAAAGCAAAAGGGA TACATAATCACTCATATATAAATATGATAAAGTTATCCATACATTCACAC AGTGTTAGCATCAAGCTGTATCCTTCTGCCTGTACTAGTGTAGGCTCTGA TGTCTTCTACTTTGTGTCTTGGGACTGGAACATGACAGAAATACACTGGT AAGAGGGAATACAGGCTCCATCAAATATATCCTTACAATTTCAAACATGG TATGATTCATCATACGTCAAAAACTAAAATAAAACCGTGTCAATATCAAC GTGGATATGCCGAGTGATGAGGACAAACTGATCTAAAATCGGAGGAGCAA CTCATACACGTGAGAATCAATGTCAAAGCAGGTGCTACATGATCCCACAT GTCTTTCGTGCAACAAATCAAAAGAATTTACATCATTATACTACAAACAT TCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAGTTACCA TGGCACTTCAGTTGAATGTACACTTCACATCCCCTTCAGTGGAAGTGTCC TAAATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAATATT CATTATCTCTCACACCCATGTGGTGTAATAATTTGCCTAAGTTTCTTGTA TCCACTAGTTTATCCCTCTGAAACTTTCTTCATCATGTCATGGCACCAAA GGATAATATATTAGCCTCAATAAAAATATCATCAACTATCAATTTTGACA TACTTCTACAAAGTAAAACTGCTACAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0004 a0008 others(9): Show a0002 a0004 a0008 a0013 a0021 a0022 a0023 a0025 a0036 a0037 a0039 a0040	a0002c0004 a0002c0007 a0002c0013 others(14): Show a0002c0004 a0002c0007 a0002c0013 a0004c0003 a0004c0021 a0004c0029 a0008c0012 a0008c0020 a0013c0014 a0021c0041 a0022c0023 a0023c0019 a0025c0034 a0036c0040 a0037c0039 a0039c0043 a0040c0044	a0002c0004t0001 a0002c0007t0001 a0002c0013t0001 others(14): Show a0002c0004t0001 a0002c0007t0001 a0002c0013t0001 a0004c0003t0001 a0004c0021t0001 a0004c0029t0001 a0008c0012t0001 a0008c0020t0001 a0013c0014t0001 a0021c0041t0001 a0022c0023t0001 a0023c0019t0002 a0025c0034t0001 a0036c0040t0001 a0037c0039t0001 a0039c0043t0001 a0040c0044t0001	a0002c0004t0001g0003 a0002c0004t0001g0019 a0002c0004t0001g0021 others(96): Show a0002c0004t0001g0003 a0002c0004t0001g0019 a0002c0004t0001g0021 a0002c0004t0001g0022 a0002c0004t0001g0181 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0190 a0002c0004t0001g0191 a0002c0004t0001g0200 a0002c0004t0001g0201 a0002c0004t0001g0202 a0002c0004t0001g0203 a0002c0004t0001g0215 a0002c0004t0001g0217 a0002c0004t0001g0222 a0002c0004t0001g0228 a0002c0004t0001g0238 a0002c0004t0001g0240 a0002c0004t0001g0249 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0265 a0002c0004t0001g0268 a0002c0004t0001g0271 a0002c0007t0001g0002 a0002c0007t0001g0205 a0002c0007t0001g0206 a0002c0007t0001g0207 a0002c0007t0001g0210 a0002c0007t0001g0211 a0002c0007t0001g0212 a0002c0007t0001g0213 a0002c0007t0001g0214 a0002c0007t0001g0239 a0002c0007t0001g0259 a0002c0007t0001g0260 a0002c0007t0001g0261 a0002c0007t0001g0262 a0002c0013t0001g0182 a0002c0013t0001g0196 a0002c0013t0001g0197 a0002c0013t0001g0241 a0004c0003t0001g0183 a0004c0003t0001g0189 a0004c0003t0001g0192 a0004c0003t0001g0194 a0004c0003t0001g0204 a0004c0003t0001g0216 a0004c0003t0001g0219 a0004c0003t0001g0223 a0004c0003t0001g0224 a0004c0003t0001g0227 a0004c0003t0001g0229 a0004c0003t0001g0230 a0004c0003t0001g0231 a0004c0003t0001g0233 a0004c0003t0001g0235 a0004c0003t0001g0236 a0004c0003t0001g0237 a0004c0003t0001g0243 a0004c0003t0001g0244 a0004c0003t0001g0245 a0004c0003t0001g0246 a0004c0003t0001g0247 a0004c0003t0001g0248 a0004c0003t0001g0250 a0004c0003t0001g0251 a0004c0003t0001g0252 a0004c0003t0001g0256 a0004c0003t0001g0257 a0004c0003t0001g0258 a0004c0003t0001g0269 a0004c0003t0001g0272 a0004c0021t0001g0234 a0004c0021t0001g0242 a0004c0029t0001g0005 a0008c0012t0001g0187 a0008c0012t0001g0188 a0008c0012t0001g0208 a0008c0012t0001g0209 a0008c0020t0001g0193 a0008c0020t0001g0253 a0013c0014t0001g0195 a0013c0014t0001g0198 a0013c0014t0001g0266 a0021c0041t0001g0173 a0022c0023t0001g0225 a0022c0023t0001g0226 a0023c0019t0002g0218 a0023c0019t0002g0267 a0025c0034t0001g0232 a0036c0040t0001g0220 a0037c0039t0001g0221 a0039c0043t0001g0270 a0040c0044t0001g0199	101	298	0.3389	-1879	c.224 others(17): Show c.2246-747_2348-747del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88						chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97207905	TTTATTAT others(1859): Show TTTATTATTTCATTTGAAATTCCATTCAGGCTACAAGTGCCGAGAAAGAT TCTGTTTTGAATATAGCCAGAGGAAAAAAGTATGGAGAAAAAACTAAGAG AGGTAATTTTGAAAAGAGATTTAATGTCATGTTCAGTGCAGATAGATAAG AAGTTCTCTTCCCTGAATAAATCAGCGGGGGGCTCGTTGAAGCTGCACAT TCTGATTCAGCAGTCCTGAGATTCTTCATTTCAAATAAGTTCTTGGGTGA TGCTGATGCTGCTGGTCTGGAACATGATCTTCGCAGTAAGATTATACACT TCCCCACATTGAAATTGGGAAGAAGAATTATGGAGAGCAGTTCAAGGCAT AAGGGGCTCTGGGGAACAACATAATTTTGCTTTAATTCTCCAGCTTGTTT TCAGTAAGGGTGGAAGGAGAAAGAGAGGAAGTATAGAATTTACACACTTC AGCTCGTACTGCCAAGAAAAGACAGAAAGCTTGTTGTAACAACCCGTAGA CACTGTGGGAGAACTAAGGAGACCCCTGGTGTAGCAACAGTTTTCCTAAG GAAGACGGATTGTGAGGCAGGAAGGTGTGAAAAGAGGAAGTCATTTATAT AATTTTGGAGTTTCTGCTGAGGAAACCTGAGTGAACTCACTTCAGATGCA TTTGGAATATTTTCATAAAAAATATTTGCTTTTAGCTGCTCCAGGAACTA CTGGAAGCAGGAAACAGTGGTATAATTGGAATACACCACACTGACCCATT ACTCCTCTTGGTTACTAGGAGGCATCAGAGATACATGTTTTGTTGATTTT AGTTATAAAAATGAGATAATCTTGAATGTGAATAAATTTGCTTCCTTGTT CAAGGAGCTACCTCGTGGATAAAATAGCTATTTAATGTAACTTCTTTAGA GAATAACACGATACTCCCAACCAGACTATTTTAGACACAAGAATGATGTT GAATTCTAATTAACTCCTAAAATAGTCATTTTCAATGAATATTGCAGTGA TTTCTGAATGAAAAGCTGATTAATATCTAATGCTTGTAGCCATTTTACTT TGTAGACGTATGTCAAAGTTGATAATTGATGATATTTTTATTGAGGCTAA TATATTATCCTTTGGTGCCAAGAGTGGATGAAGAAGCTTTCGGAAGGCTA AACTAGTGGATACAAGAAACTTAGGCAAATTATTACACTACATGGGTGTG AAAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCAAGGT GATCAATTCAGGACACTTCCACTGAAGAGATGTGAAGTGTACTTTCAACT GGAGTGTCATTGTAATTGTGTGCCTTCTCATTTATTGGGCAAGTTAAAGA GCATGAAGAATGTTTGTAGTATAATGGTGTAAATCCTTTTGATTTGTTGC ATGAAAGACATATGGGATCATGTAGCACCTGTTTTGACATTGATTCTCAC GTATATGAGTTGTTCCTCTGATTTTAGATCACATTTGTCCTCATCACTCG GCATATCCACATTGAGATTGACACGGTTTTATTTTAGTTTTTGACACGTG ACAAATCATATAATGTTTGAAATTGTAAGGGTATATTTCATGGAGCCTGT GTTCCCTTTTTCAGTGTATTTCTGTCATGTTCTGATCCCCAGACACAAAG TAGAAGCCATCAAAGCCTCCACTAATACAGGCAGGAGGACAGAGGTTGAT GCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATGTGAGT GATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCGGAAAAAACCAGCCT TGAAGGTAATGAAACTCTCATTCATATTGTGAGCTAGTAAACGTATAGCC TATGAAAGATACCTTAC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show HG00099.hp1 HG00423.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01981.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp2 HG06807.hp1 NA18945.hp1 NA18951.hp1 NA18961.hp1 NA18991.hp2 NA19030.hp2 NA19068.hp1 NA19072.hp1 NA20129.hp1 NA20129.hp2	a0002 a0004 a0011 others(7): Show a0002 a0004 a0011 a0018 a0020 a0021 a0030 a0035 a0043 a0044	a0002c0002 a0004c0005 a0004c0024 others(8): Show a0002c0002 a0004c0005 a0004c0024 a0011c0011 a0018c0018 a0020c0022 a0021c0021 a0030c0052 a0035c0062 a0043c0039 a0044c0038	a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 others(11): Show a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0011c0011t0002 a0018c0018t0002 a0020c0022t0002 a0021c0021t0002 a0030c0052t0002 a0035c0062t0004 a0043c0039t0001 a0044c0038t0001	a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 others(46): Show a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0030c0052t0002g0128 a0035c0062t0004g0042 a0043c0039t0001g0008 a0044c0038t0001g0067	49	212	0.2311	-1866	c.319 others(15): Show c.3193-14_3295-15del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	54/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97224796	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(32): Show a0000 a0001 a0002 a0004 a0005 a0008 a0010 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0035 a0036 a0037 a0040 a0041 a0042 a0043 a0044 a0045 a0047 a0048 a0049 a0051 a0052	a0000c0016 a0001c0001 a0001c0036 others(40): Show a0000c0016 a0001c0001 a0001c0036 a0001c0044 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0010c0012 a0010c0059 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0016c0023 a0016c0053 a0018c0018 a0019c0031 a0019c0032 a0020c0022 a0021c0021 a0022c0020 a0023c0019 a0024c0060 a0026c0058 a0029c0055 a0030c0052 a0035c0062 a0036c0041 a0037c0040 a0040c0047 a0041c0045 a0042c0043 a0043c0039 a0044c0038 a0045c0049 a0047c0033 a0048c0030 a0049c0029 a0051c0027 a0052c0026	a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 others(46): Show a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0036t0001 a0001c0044t0001 a0001c0046t0002 a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0010c0012t0001 a0010c0059t0001 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0016c0023t0001 a0016c0053t0001 a0018c0018t0002 a0019c0031t0007 a0019c0032t0007 a0020c0022t0002 a0021c0021t0002 a0022c0020t0001 a0023c0019t0003 a0024c0060t0002 a0026c0058t0001 a0029c0055t0002 a0030c0052t0002 a0035c0062t0004 a0036c0041t0001 a0037c0040t0002 a0040c0047t0001 a0041c0045t0001 a0042c0043t0002 a0043c0039t0001 a0044c0038t0001 a0045c0049t0001 a0047c0033t0002 a0048c0030t0002 a0049c0029t0001 a0051c0027t0001 a0052c0026t0003	a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 others(144): Show a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 a0000c0016t0006g0119 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0007g0100 a0001c0036t0001g0080 a0001c0044t0001g0001 a0001c0046t0002g0051 a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0010c0012t0001g0072 a0010c0012t0001g0075 a0010c0012t0001g0083 a0010c0012t0001g0092 a0010c0012t0001g0103 a0010c0059t0001g0090 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0016c0023t0001g0091 a0016c0023t0001g0093 a0016c0053t0001g0104 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0019c0031t0007g0126 a0019c0032t0007g0127 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0022c0020t0001g0097 a0022c0020t0001g0098 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0026c0058t0001g0074 a0029c0055t0002g0023 a0030c0052t0002g0128 a0035c0062t0004g0042 a0036c0041t0001g0113 a0037c0040t0002g0211 a0040c0047t0001g0082 a0041c0045t0001g0110 a0042c0043t0002g0210 a0043c0039t0001g0008 a0044c0038t0001g0067 a0045c0049t0001g0120 a0047c0033t0002g0025 a0048c0030t0002g0003 a0049c0029t0001g0122 a0051c0027t0001g0071 a0052c0026t0003g0193	147	212	0.6934	1	c.387 others(7): Show c.3878-3dupT		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	66/75					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97264169	TAGCATTG others(84): Show TAGCATTGAATCTACTTATGAATACGGTACATATCTCTTTTTGTTTCATT CTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTAAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 3_prime_UTR_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show HG00099.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18991.hp2 NA18999.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0005 a0008 a0011 a0012 a0013 a0018 a0020 a0021 a0023 a0024 a0029 a0035 a0037 a0042 a0047 a0048 a0052	a0001c0001 a0001c0046 a0002c0002 others(20): Show a0001c0001 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0018c0018 a0020c0022 a0021c0021 a0023c0019 a0024c0060 a0029c0055 a0035c0062 a0037c0040 a0042c0043 a0047c0033 a0048c0030 a0052c0026	a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 others(22): Show a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 a0004c0005t0004 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0018c0018t0002 a0020c0022t0002 a0021c0021t0002 a0023c0019t0003 a0024c0060t0002 a0029c0055t0002 a0035c0062t0004 a0037c0040t0002 a0042c0043t0002 a0047c0033t0002 a0048c0030t0002 a0052c0026t0003	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(64): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0046t0002g0051 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0029c0055t0002g0023 a0035c0062t0004g0042 a0037c0040t0002g0211 a0042c0043t0002g0210 a0047c0033t0002g0025 a0048c0030t0002g0003 a0052c0026t0003g0193	67	212	0.3160	-91	c.7- others(100): Show c.7-65_*32delATTGAATCTACTTATGAATACGGTACATATCTCTTT TTGTTTCATTCTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTA AGAGC		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	76/76				14097	INFO_REALIGN_3_PRIME	chr2	TogoVar
APOL4_chr22_36184128_36206809	36191797	ACT ACT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show HG00140.hp1 HG00323.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA20805.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0005 others(2): Show a0002c0002 a0002c0003 a0002c0005 a0002c0009 a0002c0010	a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 others(13): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0003t0003 a0002c0003t0011 a0002c0003t0019 a0002c0003t0020 a0002c0003t0021 a0002c0003t0022 a0002c0005t0005 a0002c0005t0016 a0002c0005t0030 a0002c0009t0003 a0002c0010t0003	a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 others(74): Show a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0048 a0002c0002t0002g0061 a0002c0002t0002g0069 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0097 a0002c0002t0002g0109 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0002g0164 a0002c0002t0002g0179 a0002c0002t0023g0078 a0002c0002t0029g0094 a0002c0002t0031g0087 a0002c0002t0032g0158 a0002c0003t0003g0005 a0002c0003t0003g0008 a0002c0003t0003g0037 a0002c0003t0003g0050 a0002c0003t0003g0096 a0002c0003t0003g0101 a0002c0003t0003g0102 a0002c0003t0003g0103 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0110 a0002c0003t0003g0111 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0154 a0002c0003t0003g0165 a0002c0003t0003g0185 a0002c0003t0011g0135 a0002c0003t0011g0136 a0002c0003t0011g0194 a0002c0003t0019g0067 a0002c0003t0020g0104 a0002c0003t0021g0121 a0002c0003t0022g0091 a0002c0005t0005g0006 a0002c0005t0005g0032 a0002c0005t0005g0049 a0002c0005t0005g0065 a0002c0005t0005g0066 a0002c0005t0005g0153 a0002c0005t0005g0180 a0002c0005t0005g0183 a0002c0005t0005g0206 a0002c0005t0005g0207 a0002c0005t0016g0055 a0002c0005t0030g0118 a0002c0009t0003g0017 a0002c0009t0003g0201 a0002c0010t0003g0027 a0002c0010t0003g0186	129	434	0.2972	-2	c.323 others(9): Show c.323_324delAG	p.Glu others(5): Show p.Glu108fs	APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	4/4	399/3069	323/1047	108/348			chr22	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(163): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0060 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0177 a0001c0001t0004g0027 a0001c0001t0006g0015 a0001c0001t0006g0102 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0010g0070 a0001c0001t0010g0121 a0001c0001t0010g0146 a0001c0001t0010g0256 a0001c0001t0010g0261 a0001c0001t0010g0267 a0001c0001t0010g0269 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0008 a0001c0001t0012g0123 a0001c0001t0012g0134 a0001c0001t0012g0151 a0001c0001t0014g0001 a0001c0001t0014g0061 a0001c0001t0014g0079 a0001c0001t0015g0059 a0001c0001t0015g0142 a0001c0001t0015g0152 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0020g0168 a0001c0001t0021g0171 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0001t0030g0005 a0001c0001t0031g0268 a0001c0001t0032g0131 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0004t0007g0162 a0001c0006t0006g0176 a0001c0007t0004g0020 a0001c0008t0003g0073 a0001c0011t0002g0132 a0002c0012t0006g0167	173	362	0.4779	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.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 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.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 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.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 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.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 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.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 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0003t0002 a0001c0004t0081	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0005g0003 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0024 a0001c0001t0007g0085 a0001c0001t0007g0098 a0001c0001t0008g0002 a0001c0001t0008g0116 a0001c0001t0008g0126 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0004 a0001c0001t0012g0016 a0001c0001t0013g0002 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0018g0025 a0001c0001t0019g0002 a0001c0001t0019g0011 a0001c0001t0019g0117 a0001c0001t0020g0010 a0001c0001t0021g0007 a0001c0001t0022g0004 a0001c0001t0023g0001 a0001c0001t0025g0004 a0001c0001t0025g0014 a0001c0001t0026g0029 a0001c0001t0027g0059 a0001c0001t0027g0060 a0001c0001t0029g0078 a0001c0001t0029g0080 a0001c0001t0034g0007 a0001c0001t0035g0114 a0001c0001t0037g0106 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0079 a0001c0001t0041g0001 a0001c0001t0042g0044 a0001c0001t0043g0001 a0001c0001t0044g0036 a0001c0001t0045g0001 a0001c0001t0046g0012 a0001c0001t0047g0081 a0001c0001t0048g0111 a0001c0001t0049g0001 a0001c0001t0050g0122 a0001c0001t0051g0002 a0001c0001t0052g0015 a0001c0001t0053g0002 a0001c0001t0054g0062 a0001c0001t0055g0053 a0001c0001t0056g0003 a0001c0001t0057g0047 a0001c0001t0058g0077 a0001c0001t0059g0003 a0001c0001t0060g0058 a0001c0001t0061g0003 a0001c0001t0068g0061 a0001c0001t0072g0019 a0001c0001t0073g0001 a0001c0001t0074g0057 a0001c0001t0075g0033 a0001c0001t0076g0072 a0001c0001t0077g0007 a0001c0001t0078g0007 a0001c0001t0079g0007 a0001c0001t0080g0033 a0001c0003t0002g0002 a0001c0004t0081g0054	347	414	0.8382	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160			chr10	TogoVar
ATM_chr11_108218067_108374102	108250683	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0009 a0010 a0013 a0015 a0021 a0023	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0020 a0001c0024 a0001c0025 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0009c0013 a0010c0014 a0013c0018 a0015c0019 a0021c0026 a0023c0033	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(31): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0008t0016 a0001c0010t0031 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0003c0003t0001 a0004c0004t0004 a0004c0004t0005 a0005c0006t0005 a0005c0006t0030 a0006c0007t0001 a0006c0007t0009 a0009c0013t0012 a0010c0014t0001 a0013c0018t0001 a0015c0019t0001 a0021c0026t0001 a0023c0033t0012	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(157): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0009g0238 a0001c0001t0009g0257 a0001c0001t0009g0263 a0001c0001t0010g0205 a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0011g0196 a0001c0001t0013g0237 a0001c0001t0013g0276 a0001c0001t0014g0151 a0001c0001t0014g0275 a0001c0001t0014g0279 a0001c0001t0016g0009 a0001c0001t0017g0175 a0001c0001t0018g0001 a0001c0001t0018g0294 a0001c0001t0019g0246 a0001c0001t0019g0253 a0001c0001t0023g0002 a0001c0001t0025g0268 a0001c0001t0026g0190 a0001c0001t0027g0258 a0001c0001t0028g0290 a0001c0001t0034g0152 a0001c0008t0016g0115 a0001c0008t0016g0116 a0001c0010t0031g0031 a0001c0020t0001g0273 a0001c0024t0001g0240 a0001c0025t0001g0274 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0298 a0003c0003t0001g0299 a0004c0004t0004g0168 a0004c0004t0004g0169 a0004c0004t0004g0176 a0004c0004t0004g0177 a0004c0004t0004g0178 a0004c0004t0004g0179 a0004c0004t0004g0180 a0004c0004t0004g0182 a0004c0004t0004g0183 a0004c0004t0004g0184 a0004c0004t0005g0004 a0005c0006t0005g0165 a0005c0006t0005g0166 a0005c0006t0005g0170 a0005c0006t0005g0171 a0005c0006t0005g0172 a0005c0006t0005g0173 a0005c0006t0005g0174 a0005c0006t0005g0181 a0005c0006t0030g0167 a0006c0007t0001g0150 a0006c0007t0001g0156 a0006c0007t0001g0157 a0006c0007t0001g0160 a0006c0007t0001g0161 a0006c0007t0009g0162 a0009c0013t0012g0117 a0009c0013t0012g0119 a0009c0013t0012g0120 a0010c0014t0001g0215 a0010c0014t0001g0281 a0013c0018t0001g0231 a0015c0019t0001g0209 a0021c0026t0001g0230 a0023c0033t0012g0118	160	304	0.5263	1	c.123 others(7): Show c.1236-3dupT		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	9/62					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP6V1B1_chr2_70930900_70970431	70935956	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0007 a0008 a0009 a0010	a0002c0003 a0002c0006 a0002c0008 others(18): Show a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0018 a0002c0019 a0002c0021 a0002c0024 a0002c0025 a0002c0027 a0002c0029 a0002c0031 a0004c0014 a0005c0020 a0007c0026 a0008c0032 a0009c0028 a0010c0030	a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 others(21): Show a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0011t0007 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0018t0002 a0002c0019t0008 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0027t0001 a0002c0029t0004 a0002c0031t0001 a0004c0014t0002 a0005c0020t0001 a0007c0026t0001 a0008c0032t0001 a0009c0028t0001 a0010c0030t0001	a0002c0003t0001g0021 a0002c0003t0001g0271 a0002c0003t0001g0280 others(144): Show a0002c0003t0001g0021 a0002c0003t0001g0271 a0002c0003t0001g0280 a0002c0003t0001g0282 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0294 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0312 a0002c0003t0001g0315 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0324 a0002c0003t0001g0325 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0331 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0001g0337 a0002c0003t0001g0338 a0002c0003t0001g0345 a0002c0003t0001g0410 a0002c0003t0001g0412 a0002c0003t0001g0413 a0002c0003t0001g0414 a0002c0006t0001g0017 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0270 a0002c0006t0001g0272 a0002c0006t0001g0279 a0002c0006t0001g0283 a0002c0006t0001g0288 a0002c0006t0001g0290 a0002c0006t0001g0295 a0002c0006t0001g0296 a0002c0006t0001g0302 a0002c0006t0001g0306 a0002c0006t0001g0310 a0002c0006t0001g0313 a0002c0006t0001g0316 a0002c0006t0001g0329 a0002c0006t0001g0332 a0002c0006t0001g0336 a0002c0006t0001g0343 a0002c0006t0001g0355 a0002c0006t0001g0398 a0002c0006t0001g0411 a0002c0006t0003g0019 a0002c0006t0003g0333 a0002c0006t0003g0339 a0002c0008t0002g0278 a0002c0008t0002g0344 a0002c0008t0002g0365 a0002c0008t0002g0367 a0002c0008t0002g0368 a0002c0008t0002g0369 a0002c0008t0002g0370 a0002c0008t0002g0371 a0002c0008t0002g0373 a0002c0008t0002g0377 a0002c0008t0002g0378 a0002c0008t0002g0379 a0002c0008t0002g0380 a0002c0008t0002g0381 a0002c0008t0002g0382 a0002c0008t0002g0383 a0002c0008t0002g0384 a0002c0008t0002g0385 a0002c0008t0002g0399 a0002c0008t0002g0400 a0002c0008t0002g0401 a0002c0008t0002g0403 a0002c0008t0002g0404 a0002c0008t0002g0405 a0002c0010t0002g0293 a0002c0010t0002g0307 a0002c0010t0002g0322 a0002c0010t0002g0340 a0002c0010t0002g0346 a0002c0010t0002g0347 a0002c0010t0002g0348 a0002c0010t0002g0356 a0002c0010t0002g0357 a0002c0010t0002g0358 a0002c0010t0002g0359 a0002c0010t0002g0360 a0002c0010t0002g0361 a0002c0010t0002g0362 a0002c0010t0002g0363 a0002c0010t0002g0366 a0002c0010t0002g0406 a0002c0011t0002g0284 a0002c0011t0002g0350 a0002c0011t0002g0353 a0002c0011t0002g0392 a0002c0011t0002g0397 a0002c0011t0007g0274 a0002c0011t0007g0275 a0002c0011t0007g0276 a0002c0011t0007g0277 a0002c0012t0005g0273 a0002c0012t0005g0349 a0002c0012t0005g0351 a0002c0012t0005g0352 a0002c0012t0005g0354 a0002c0012t0005g0364 a0002c0012t0012g0323 a0002c0013t0002g0386 a0002c0013t0002g0388 a0002c0013t0002g0389 a0002c0013t0002g0390 a0002c0013t0002g0391 a0002c0018t0002g0341 a0002c0018t0002g0402 a0002c0019t0008g0300 a0002c0019t0008g0311 a0002c0021t0001g0289 a0002c0021t0001g0407 a0002c0024t0002g0387 a0002c0025t0001g0330 a0002c0027t0001g0327 a0002c0029t0004g0281 a0002c0031t0001g0409 a0004c0014t0002g0020 a0004c0014t0002g0375 a0004c0014t0002g0376 a0005c0020t0001g0018 a0007c0026t0001g0314 a0008c0032t0001g0374 a0009c0028t0001g0342 a0010c0030t0001g0372	152	440	0.3455	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/14	57/1907	2/1542	1/513			chr2	TogoVar
AXDND1_chr1_179360971_179559735	179534935	G G	T T	stop_gained stop_gained	HIGH	HG01257.hp1 HG01361.hp1 HG01952.hp2 others(1): Show HG01257.hp1 HG01361.hp1 HG01952.hp2 HG01981.hp2	a0012 a0024 a0012 a0024	a0012c0014 a0024c0024 a0012c0014 a0024c0024	a0012c0014t0001 a0024c0024t0001 a0012c0014t0001 a0024c0024t0001	a0012c0014t0001g0117 a0012c0014t0001g0122 a0012c0014t0001g0139 others(1): Show a0012c0014t0001g0117 a0012c0014t0001g0122 a0012c0014t0001g0139 a0024c0024t0001g0145	4	356	0.0112	0	c.300 others(4): Show c.3004G>T	p.Glu others(5): Show p.Glu1002*	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	25/26	3140/3391	3004/3039	1002/1012			chr1	TogoVar
BMAL2_chr12_27327836_27430286	27390094	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	310	0.0032	0	c.776 others(5): Show c.776-2A>G		BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	8/16						chr12	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): 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 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.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 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.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 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 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 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 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 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 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 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.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.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.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 HG04184.hp2 HG04204.hp1 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 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.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 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.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 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0008t0001 a0002c0002t0004 a0002c0002t0043 a0002c0002t0044 a0003c0003t0014 a0004c0004t0002 a0004c0004t0025 a0005c0005t0001 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(241): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0083 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0003g0003 a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0143 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0007g0023 a0001c0001t0007g0048 a0001c0001t0007g0138 a0001c0001t0007g0144 a0001c0001t0007g0164 a0001c0001t0008g0006 a0001c0001t0008g0036 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0216 a0001c0001t0009g0232 a0001c0001t0009g0243 a0001c0001t0010g0020 a0001c0001t0010g0045 a0001c0001t0010g0130 a0001c0001t0010g0177 a0001c0001t0011g0017 a0001c0001t0011g0147 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0012g0007 a0001c0001t0013g0031 a0001c0001t0013g0085 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0015g0022 a0001c0001t0015g0140 a0001c0001t0015g0142 a0001c0001t0015g0146 a0001c0001t0016g0016 a0001c0001t0016g0137 a0001c0001t0016g0245 a0001c0001t0017g0211 a0001c0001t0018g0011 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0019g0078 a0001c0001t0020g0015 a0001c0001t0021g0049 a0001c0001t0021g0134 a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182 a0001c0001t0023g0038 a0001c0001t0023g0115 a0001c0001t0024g0021 a0001c0001t0025g0046 a0001c0001t0026g0024 a0001c0001t0027g0190 a0001c0001t0027g0192 a0001c0001t0028g0059 a0001c0001t0029g0037 a0001c0001t0030g0097 a0001c0001t0030g0101 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0034g0055 a0001c0001t0035g0052 a0001c0001t0036g0145 a0001c0001t0036g0149 a0001c0001t0037g0127 a0001c0001t0037g0128 a0001c0001t0038g0133 a0001c0001t0038g0155 a0001c0001t0039g0051 a0001c0001t0040g0160 a0001c0001t0040g0176 a0001c0001t0041g0047 a0001c0001t0042g0065 a0001c0001t0045g0179 a0001c0001t0046g0238 a0001c0001t0047g0201 a0001c0001t0048g0220 a0001c0001t0049g0224 a0001c0001t0050g0193 a0001c0001t0051g0210 a0001c0001t0052g0214 a0001c0001t0053g0229 a0001c0001t0054g0237 a0001c0001t0055g0195 a0001c0001t0056g0231 a0001c0001t0057g0217 a0001c0001t0058g0228 a0001c0001t0059g0212 a0001c0001t0060g0204 a0001c0001t0061g0218 a0001c0001t0062g0187 a0001c0001t0063g0114 a0001c0001t0064g0113 a0001c0001t0065g0185 a0001c0001t0066g0109 a0001c0001t0067g0107 a0001c0001t0068g0108 a0001c0001t0069g0104 a0001c0001t0070g0105 a0001c0001t0071g0184 a0001c0001t0072g0106 a0001c0001t0073g0112 a0001c0001t0074g0111 a0001c0001t0075g0110 a0001c0001t0076g0096 a0001c0001t0077g0188 a0001c0001t0078g0186 a0001c0001t0079g0079 a0001c0001t0080g0081 a0001c0001t0081g0148 a0001c0001t0082g0129 a0001c0001t0083g0093 a0001c0001t0084g0092 a0001c0001t0085g0150 a0001c0001t0086g0151 a0001c0001t0087g0152 a0001c0001t0088g0246 a0001c0001t0089g0118 a0001c0001t0090g0153 a0001c0001t0091g0119 a0001c0001t0092g0120 a0001c0001t0093g0121 a0001c0001t0094g0165 a0001c0001t0095g0126 a0001c0001t0096g0154 a0001c0001t0097g0181 a0001c0001t0098g0124 a0001c0001t0099g0156 a0001c0001t0100g0157 a0001c0001t0101g0084 a0001c0001t0102g0158 a0001c0001t0103g0183 a0001c0001t0104g0122 a0001c0001t0105g0139 a0001c0001t0106g0167 a0001c0001t0107g0123 a0001c0001t0108g0175 a0001c0001t0109g0159 a0001c0001t0110g0103 a0001c0001t0111g0171 a0001c0001t0112g0161 a0001c0008t0001g0206 a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0067 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0071 a0002c0002t0043g0070 a0002c0002t0044g0066 a0003c0003t0014g0013 a0003c0003t0014g0072 a0003c0003t0014g0073 a0004c0004t0002g0247 a0004c0004t0025g0248 a0005c0005t0001g0074 a0006c0007t0001g0205 a0007c0006t0001g0199	406	414	0.9807	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6						chr13	TogoVar
C17orf107_chr17_4894536_4907934	4900416	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show HG00099.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0029 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0002t0007g0001 a0002c0002t0019g0001 a0002c0002t0029g0001 a0004c0004t0001g0001	94	442	0.2127	0	c.456 others(3): Show c.456G>A	p.Trp others(4): Show p.Trp152*	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	3/3	683/3201	456/573	152/190			chr17	TogoVar
C7orf33_chr7_148585766_148620860	148590928	G G	T T	start_lost start_lost	HIGH	HG01070.hp2 HG01081.hp2 HG01928.hp1 others(6): Show HG01070.hp2 HG01081.hp2 HG01928.hp1 HG01981.hp1 HG01993.hp2 HG02257.hp2 HG04204.hp2 NA19240.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0009 a0003c0003 a0003c0008 a0003c0009	a0003c0003t0001 a0003c0003t0002 a0003c0008t0002 others(1): Show a0003c0003t0001 a0003c0003t0002 a0003c0008t0002 a0003c0009t0001	a0003c0003t0001g0089 a0003c0003t0001g0092 a0003c0003t0002g0088 others(6): Show a0003c0003t0001g0089 a0003c0003t0001g0092 a0003c0003t0002g0088 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0008t0002g0095 a0003c0009t0001g0096	9	444	0.0203	0	c.3G> others(1): Show c.3G>T	p.Met others(2): Show p.Met1?	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/3	163/1153	3/534	1/177			chr7	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp2 HG01981.hp2 NA18989.hp1 HG00438.hp2 HG01981.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0011 a0001c0002t0058 a0001c0001t0009 a0001c0001t0011 a0001c0002t0058	a0001c0001t0009g0160 a0001c0001t0011g0055 a0001c0002t0058g0159 a0001c0001t0009g0160 a0001c0001t0011g0055 a0001c0002t0058g0159	3	200	0.0150	20	c.121 others(32): Show c.121-22_121-3dupTTTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAPN15_chr16_522712_559636	536144	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01891.hp2 HG01981.hp2 HG02074.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG06807.hp1 NA18945.hp2 NA18956.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18984.hp2 NA19004.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0009 a0014 a0015 a0020 a0023	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0022 a0001c0046 a0001c0067 a0001c0072 a0002c0037 a0002c0040 a0003c0012 a0003c0059 a0004c0018 a0004c0019 a0004c0025 a0009c0024 a0014c0041 a0015c0036 a0020c0066 a0023c0068	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0019 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0010 a0001c0006t0001 a0001c0006t0003 a0001c0007t0036 a0001c0022t0001 a0001c0046t0037 a0001c0067t0016 a0001c0072t0004 a0002c0037t0001 a0002c0040t0001 a0003c0012t0002 a0003c0059t0002 a0004c0018t0001 a0004c0018t0014 a0004c0019t0003 a0004c0025t0003 a0009c0024t0001 a0009c0024t0002 a0014c0041t0004 a0015c0036t0001 a0020c0066t0001 a0023c0068t0001	a0001c0001t0001g0017 a0001c0001t0001g0350 a0001c0001t0001g0362 others(41): Show a0001c0001t0001g0017 a0001c0001t0001g0350 a0001c0001t0001g0362 a0001c0001t0001g0384 a0001c0001t0001g0394 a0001c0001t0002g0353 a0001c0002t0001g0361 a0001c0002t0003g0357 a0001c0002t0009g0398 a0001c0002t0019g0397 a0001c0003t0001g0352 a0001c0003t0001g0355 a0001c0003t0001g0356 a0001c0004t0001g0393 a0001c0004t0003g0009 a0001c0004t0003g0354 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0004t0003g0379 a0001c0004t0003g0380 a0001c0004t0003g0381 a0001c0005t0001g0030 a0001c0005t0010g0304 a0001c0006t0001g0351 a0001c0006t0003g0277 a0001c0007t0036g0358 a0001c0022t0001g0303 a0001c0046t0037g0268 a0001c0067t0016g0279 a0001c0072t0004g0395 a0002c0037t0001g0382 a0002c0040t0001g0360 a0003c0012t0002g0267 a0003c0059t0002g0065 a0004c0018t0001g0274 a0004c0018t0014g0007 a0004c0019t0003g0275 a0004c0025t0003g0278 a0009c0024t0001g0386 a0009c0024t0002g0359 a0014c0041t0004g0385 a0015c0036t0001g0392 a0020c0066t0001g0248 a0023c0068t0001g0364	46	410	0.1122	0	c.-23 others(5): Show c.-23+2T>C		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13						chr16	TogoVar
CATSPER2_chr15_43623503_43653844	43632936	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0003c0003 a0006c0009 a0007c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0005t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0023 a0002c0008t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0006c0009t0002 a0007c0012t0022	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(113): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0005g0054 a0001c0001t0006g0012 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0010g0026 a0001c0001t0010g0189 a0001c0001t0014g0124 a0001c0001t0018g0128 a0001c0005t0004g0046 a0001c0005t0004g0047 a0001c0005t0004g0048 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0199 a0002c0002t0009g0177 a0002c0002t0009g0196 a0002c0002t0009g0197 a0002c0002t0009g0198 a0002c0002t0012g0142 a0002c0002t0012g0158 a0002c0002t0023g0147 a0002c0008t0002g0139 a0003c0003t0008g0022 a0003c0003t0008g0129 a0003c0003t0011g0049 a0003c0003t0011g0050 a0003c0003t0021g0127 a0006c0009t0002g0140 a0007c0012t0022g0180	176	392	0.4490	0	c.117 others(6): Show c.1179-2A>T		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	10/12						chr15	TogoVar
CCDC198_chr14_57464300_57498857	57481662	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0018 a0002c0003t0003 a0002c0003t0006 a0002c0003t0011 a0003c0005t0001 a0005c0007t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0005g0040 a0001c0001t0005g0142 a0001c0001t0007g0159 a0001c0001t0016g0162 a0001c0001t0017g0075 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0164 a0001c0002t0010g0176 a0001c0002t0013g0071 a0001c0002t0018g0070 a0002c0003t0003g0065 a0002c0003t0003g0167 a0002c0003t0006g0044 a0002c0003t0011g0066 a0003c0005t0001g0042 a0003c0005t0001g0179 a0005c0007t0008g0072	261	362	0.7210	0	c.394 others(5): Show c.394-2A>G		CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding	3/5						chr14	TogoVar
CCHCR1_chr6_31137439_31162802	31157072	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19030.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 others(8): Show a0001c0001 a0001c0006 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0017 a0001c0019 a0001c0025 a0001c0026 a0001c0027	a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 others(9): Show a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 a0001c0009t0005 a0001c0011t0001 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0019t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0023 a0001c0006t0001g0117 a0001c0006t0001g0118 a0001c0006t0001g0119 a0001c0006t0001g0121 a0001c0006t0001g0132 a0001c0006t0001g0139 a0001c0006t0001g0140 a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0009t0004g0020 a0001c0009t0004g0059 a0001c0009t0004g0060 a0001c0009t0004g0167 a0001c0009t0004g0168 a0001c0009t0004g0169 a0001c0009t0004g0170 a0001c0009t0004g0171 a0001c0009t0004g0172 a0001c0009t0004g0173 a0001c0009t0004g0175 a0001c0009t0005g0061 a0001c0009t0005g0174 a0001c0009t0005g0176 a0001c0011t0001g0021 a0001c0011t0001g0031 a0001c0011t0001g0111 a0001c0011t0001g0112 a0001c0011t0001g0113 a0001c0011t0001g0114 a0001c0014t0001g0013 a0001c0015t0001g0032 a0001c0015t0001g0116 a0001c0017t0001g0053 a0001c0017t0001g0120 a0001c0019t0001g0131 a0001c0019t0001g0137 a0001c0025t0001g0115 a0001c0026t0001g0125 a0001c0027t0001g0144	187	455	0.4110	0	c.234 others(3): Show c.234G>A	p.Trp others(3): Show p.Trp78*	CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	2/18	436/2971	234/2616	78/871			chr6	TogoVar
CD200R1L_chr3_112810711_112851864	112827063	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(46): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG04228.hp2 HG06807.hp1 NA18949.hp2 NA18967.hp1 NA18981.hp1 NA18994.hp1 NA18999.hp1 NA19030.hp1 NA19055.hp2 NA19060.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0006t0001 a0003c0004t0001 a0003c0006t0001	a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0019 others(25): Show a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0019 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0065 a0003c0004t0001g0068 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0092 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0180 a0003c0006t0001g0076	49	408	0.1201	-1	c.545 others(4): Show c.545delA	p.His others(5): Show p.His182fs	CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	6/8	1143/1603	545/753	182/250			chr3	TogoVar
CEACAM21_chr19_41571166_41591844	41586462	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0011	a0001c0001 a0002c0003 a0002c0005 others(9): Show a0001c0001 a0002c0003 a0002c0005 a0002c0007 a0003c0002 a0003c0014 a0004c0004 a0005c0006 a0007c0009 a0008c0013 a0009c0017 a0011c0015	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 others(12): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001 a0002c0007t0001 a0003c0002t0001 a0003c0002t0006 a0003c0014t0001 a0004c0004t0001 a0004c0004t0005 a0005c0006t0002 a0007c0009t0001 a0008c0013t0001 a0009c0017t0001 a0011c0015t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 a0002c0003t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0014 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0040 a0002c0003t0001g0076 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0083 a0002c0003t0003g0003 a0002c0005t0001g0010 a0002c0005t0001g0013 a0002c0005t0001g0026 a0002c0007t0001g0035 a0002c0007t0001g0081 a0003c0002t0001g0002 a0003c0002t0001g0010 a0003c0002t0001g0012 a0003c0002t0001g0024 a0003c0002t0001g0025 a0003c0002t0001g0027 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0061 a0003c0002t0006g0002 a0003c0014t0001g0002 a0004c0004t0001g0059 a0004c0004t0005g0058 a0005c0006t0002g0020 a0005c0006t0002g0062 a0007c0009t0001g0003 a0008c0013t0001g0054 a0009c0017t0001g0046 a0011c0015t0001g0080	163	393	0.4148	0	c.1- others(4): Show c.1-2A>T		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	6/6						chr19	TogoVar
CELA1_chr12_51323442_51351679	51346628	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0002c0004 others(5): Show a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0003c0005	a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 others(6): Show a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0006t0001 a0002c0007t0002 a0002c0009t0002 a0002c0010t0002 a0003c0005t0001	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 others(115): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0073 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0003t0001g0002 a0002c0003t0001g0044 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0002g0011 a0002c0003t0002g0036 a0002c0003t0002g0074 a0002c0003t0002g0088 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0094 a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0035 a0002c0004t0002g0054 a0002c0004t0002g0079 a0002c0004t0002g0080 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0006t0001g0016 a0002c0006t0001g0071 a0002c0006t0001g0072 a0002c0007t0002g0032 a0002c0007t0002g0078 a0002c0009t0002g0081 a0002c0010t0002g0083 a0003c0005t0001g0010 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0057 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0064 a0003c0005t0001g0065 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 a0003c0005t0001g0070	211	406	0.5197	-1	c.10d others(3): Show c.10delC	p.Leu others(3): Show p.Leu4fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	51/953	10/777	4/258			chr12	TogoVar
CEL_chr9_133056981_133076861	133071270	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02145.hp2 HG02155.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02897.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03710.hp1 HG04115.hp2 NA18954.hp1 NA18991.hp1 NA19000.hp1 NA19006.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp2 NA19080.hp2 NA19082.hp2	a0001 a0030 a0001 a0030	a0001c0019 a0001c0020 a0001c0054 others(40): Show a0001c0019 a0001c0020 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0190 a0001c0191 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0001c0197 a0001c0198 a0001c0199 a0001c0200 a0001c0201 a0001c0202 a0001c0203 a0001c0204 a0030c0043 a0030c0044	a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 others(40): Show a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0003 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0002 a0001c0077t0001 a0001c0190t0001 a0001c0191t0001 a0001c0192t0001 a0001c0193t0001 a0001c0194t0001 a0001c0195t0001 a0001c0196t0001 a0001c0197t0001 a0001c0198t0001 a0001c0199t0001 a0001c0200t0001 a0001c0201t0001 a0001c0202t0001 a0001c0203t0001 a0001c0204t0001 a0030c0043t0001 a0030c0044t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 others(42): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 a0001c0020t0001g0043 a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0056t0001g0008 a0001c0057t0001g0008 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0060t0001g0001 a0001c0061t0001g0006 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0065t0001g0001 a0001c0066t0003g0001 a0001c0067t0001g0003 a0001c0068t0001g0008 a0001c0069t0001g0001 a0001c0070t0001g0001 a0001c0071t0001g0003 a0001c0072t0001g0012 a0001c0073t0001g0001 a0001c0074t0001g0001 a0001c0075t0001g0009 a0001c0076t0002g0071 a0001c0077t0001g0001 a0001c0190t0001g0005 a0001c0191t0001g0026 a0001c0192t0001g0002 a0001c0193t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0196t0001g0002 a0001c0197t0001g0002 a0001c0198t0001g0083 a0001c0199t0001g0021 a0001c0200t0001g0002 a0001c0201t0001g0002 a0001c0202t0001g0005 a0001c0203t0001g0011 a0001c0204t0001g0015 a0030c0043t0001g0037 a0030c0044t0001g0022	45	416	0.1082	1	c.177 others(5): Show c.1776dupC	p.Val others(5): Show p.Val593fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1799/2381	1777/2262	593/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071369	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00597.hp1 HG00597.hp2 others(21): Show HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01361.hp2 HG01981.hp2 HG01993.hp2 HG02056.hp2 HG02074.hp1 HG02155.hp2 HG02486.hp1 HG02622.hp2 HG02738.hp1 HG03491.hp1 HG03831.hp2 HG03942.hp2 NA18906.hp1 NA19000.hp1 NA19063.hp2 NA19090.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0054	a0001c0054 a0001c0055 a0001c0058 others(20): Show a0001c0054 a0001c0055 a0001c0058 a0001c0059 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0005c0021 a0005c0082 a0007c0114 a0007c0117 a0007c0119 a0007c0122 a0007c0124 a0007c0125 a0007c0211 a0007c0212 a0007c0213 a0007c0214 a0007c0216 a0054c0179	a0001c0054t0001 a0001c0055t0001 a0001c0058t0001 others(20): Show a0001c0054t0001 a0001c0055t0001 a0001c0058t0001 a0001c0059t0001 a0001c0192t0001 a0001c0193t0001 a0001c0194t0001 a0001c0195t0001 a0001c0196t0001 a0005c0021t0001 a0005c0082t0001 a0007c0114t0001 a0007c0117t0001 a0007c0119t0001 a0007c0122t0001 a0007c0124t0001 a0007c0125t0001 a0007c0211t0001 a0007c0212t0001 a0007c0213t0001 a0007c0214t0001 a0007c0216t0001 a0054c0179t0001	a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0058t0001g0001 others(21): Show a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0192t0001g0002 a0001c0193t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0196t0001g0002 a0005c0021t0001g0001 a0005c0021t0001g0009 a0005c0082t0001g0001 a0007c0114t0001g0008 a0007c0117t0001g0001 a0007c0119t0001g0032 a0007c0122t0001g0012 a0007c0124t0001g0050 a0007c0125t0001g0027 a0007c0211t0001g0076 a0007c0212t0001g0002 a0007c0213t0001g0005 a0007c0214t0001g0002 a0007c0216t0001g0005 a0054c0179t0001g0086	24	416	0.0577	1	c.187 others(5): Show c.1875dupC	p.Val others(5): Show p.Val626fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1898/2381	1876/2262	626/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071433	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00621.hp1 HG00621.hp2 others(15): Show HG00408.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01255.hp2 HG01496.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02293.hp2 HG03688.hp2 NA18950.hp1 NA18987.hp2 NA19009.hp2 NA19080.hp2 NA19090.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0010	a0001c0073 a0001c0192 a0001c0194 others(15): Show a0001c0073 a0001c0192 a0001c0194 a0001c0198 a0001c0199 a0006c0220 a0006c0221 a0006c0222 a0006c0223 a0007c0209 a0007c0211 a0007c0212 a0007c0213 a0010c0224 a0010c0225 a0010c0226 a0010c0227 a0010c0228	a0001c0073t0001 a0001c0192t0001 a0001c0194t0001 others(15): Show a0001c0073t0001 a0001c0192t0001 a0001c0194t0001 a0001c0198t0001 a0001c0199t0001 a0006c0220t0001 a0006c0221t0001 a0006c0222t0001 a0006c0223t0001 a0007c0209t0001 a0007c0211t0001 a0007c0212t0001 a0007c0213t0001 a0010c0224t0001 a0010c0225t0001 a0010c0226t0001 a0010c0227t0001 a0010c0228t0001	a0001c0073t0001g0001 a0001c0192t0001g0002 a0001c0194t0001g0002 others(15): Show a0001c0073t0001g0001 a0001c0192t0001g0002 a0001c0194t0001g0002 a0001c0198t0001g0083 a0001c0199t0001g0021 a0006c0220t0001g0089 a0006c0221t0001g0002 a0006c0222t0001g0002 a0006c0223t0001g0002 a0007c0209t0001g0026 a0007c0211t0001g0076 a0007c0212t0001g0002 a0007c0213t0001g0005 a0010c0224t0001g0085 a0010c0225t0001g0002 a0010c0226t0001g0053 a0010c0227t0001g0021 a0010c0228t0001g0002	18	416	0.0433	1	c.193 others(10): Show c.1931_1932insC	p.Ala others(5): Show p.Ala645fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1954/2381	1932/2262	644/753			chr9	TogoVar
CEL_chr9_133056981_133076861	133071467	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show HG00408.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02155.hp2 HG02293.hp2 HG02630.hp1 HG03654.hp2 HG03688.hp2 NA18522.hp2 NA18954.hp2 NA18960.hp2 NA18967.hp1 NA18984.hp2 NA18987.hp2 NA19006.hp1 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19090.hp1 NA20752.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0010	a0001c0073 a0001c0190 a0001c0192 others(26): Show a0001c0073 a0001c0190 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0198 a0001c0200 a0001c0201 a0004c0008 a0004c0017 a0004c0146 a0004c0229 a0004c0230 a0004c0231 a0005c0205 a0006c0217 a0006c0220 a0006c0221 a0006c0222 a0006c0223 a0007c0209 a0007c0210 a0007c0211 a0007c0212 a0007c0214 a0010c0224 a0010c0225 a0010c0226	a0001c0073t0001 a0001c0190t0001 a0001c0192t0001 others(26): Show a0001c0073t0001 a0001c0190t0001 a0001c0192t0001 a0001c0193t0001 a0001c0194t0001 a0001c0195t0001 a0001c0198t0001 a0001c0200t0001 a0001c0201t0001 a0004c0008t0001 a0004c0017t0001 a0004c0146t0001 a0004c0229t0001 a0004c0230t0001 a0004c0231t0001 a0005c0205t0001 a0006c0217t0001 a0006c0220t0001 a0006c0221t0001 a0006c0222t0001 a0006c0223t0001 a0007c0209t0001 a0007c0210t0001 a0007c0211t0001 a0007c0212t0001 a0007c0214t0001 a0010c0224t0001 a0010c0225t0001 a0010c0226t0001	a0001c0073t0001g0001 a0001c0190t0001g0005 a0001c0192t0001g0002 others(31): Show a0001c0073t0001g0001 a0001c0190t0001g0005 a0001c0192t0001g0002 a0001c0193t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0198t0001g0083 a0001c0200t0001g0002 a0001c0201t0001g0002 a0004c0008t0001g0002 a0004c0008t0001g0005 a0004c0008t0001g0018 a0004c0008t0001g0079 a0004c0017t0001g0002 a0004c0017t0001g0005 a0004c0017t0001g0011 a0004c0146t0001g0045 a0004c0229t0001g0011 a0004c0230t0001g0021 a0004c0231t0001g0002 a0005c0205t0001g0005 a0006c0217t0001g0002 a0006c0220t0001g0089 a0006c0221t0001g0002 a0006c0222t0001g0002 a0006c0223t0001g0002 a0007c0209t0001g0026 a0007c0210t0001g0002 a0007c0211t0001g0076 a0007c0212t0001g0002 a0007c0214t0001g0002 a0010c0224t0001g0085 a0010c0225t0001g0002 a0010c0226t0001g0053	38	416	0.0914	1	c.196 others(10): Show c.1965_1966insC	p.Ala others(5): Show p.Ala656fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1988/2381	1966/2262	656/753			chr9	TogoVar
CEL_chr9_133056981_133076861	133071501	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(49): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01496.hp1 HG01975.hp2 HG01981.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04204.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18990.hp1 NA18998.hp1 NA19030.hp2 NA19084.hp2 NA19090.hp1 NA20752.hp2	a0001 a0004 a0005 others(10): Show a0001 a0004 a0005 a0006 a0007 a0008 a0010 a0014 a0018 a0022 a0030 a0031 a0054	a0001c0054 a0001c0060 a0001c0061 others(48): Show a0001c0054 a0001c0060 a0001c0061 a0001c0063 a0001c0067 a0001c0070 a0001c0072 a0001c0077 a0001c0190 a0001c0193 a0001c0196 a0001c0200 a0001c0202 a0004c0148 a0004c0229 a0004c0230 a0005c0082 a0005c0083 a0005c0085 a0005c0090 a0005c0092 a0005c0093 a0005c0096 a0006c0028 a0006c0137 a0006c0140 a0006c0141 a0006c0220 a0006c0221 a0007c0118 a0007c0122 a0007c0209 a0007c0210 a0007c0211 a0007c0212 a0008c0103 a0008c0105 a0008c0106 a0010c0183 a0010c0224 a0010c0225 a0010c0227 a0014c0219 a0018c0169 a0018c0170 a0018c0171 a0018c0241 a0022c0186 a0030c0043 a0031c0048 a0054c0179	a0001c0054t0001 a0001c0060t0001 a0001c0061t0001 others(48): Show a0001c0054t0001 a0001c0060t0001 a0001c0061t0001 a0001c0063t0001 a0001c0067t0001 a0001c0070t0001 a0001c0072t0001 a0001c0077t0001 a0001c0190t0001 a0001c0193t0001 a0001c0196t0001 a0001c0200t0001 a0001c0202t0001 a0004c0148t0001 a0004c0229t0001 a0004c0230t0001 a0005c0082t0001 a0005c0083t0001 a0005c0085t0001 a0005c0090t0001 a0005c0092t0001 a0005c0093t0001 a0005c0096t0001 a0006c0028t0001 a0006c0137t0001 a0006c0140t0001 a0006c0141t0001 a0006c0220t0001 a0006c0221t0001 a0007c0118t0001 a0007c0122t0001 a0007c0209t0001 a0007c0210t0001 a0007c0211t0001 a0007c0212t0001 a0008c0103t0001 a0008c0105t0001 a0008c0106t0001 a0010c0183t0001 a0010c0224t0001 a0010c0225t0001 a0010c0227t0001 a0014c0219t0001 a0018c0169t0001 a0018c0170t0001 a0018c0171t0001 a0018c0241t0001 a0022c0186t0001 a0030c0043t0001 a0031c0048t0001 a0054c0179t0001	a0001c0054t0001g0056 a0001c0060t0001g0001 a0001c0061t0001g0006 others(48): Show a0001c0054t0001g0056 a0001c0060t0001g0001 a0001c0061t0001g0006 a0001c0063t0001g0003 a0001c0067t0001g0003 a0001c0070t0001g0001 a0001c0072t0001g0012 a0001c0077t0001g0001 a0001c0190t0001g0005 a0001c0193t0001g0002 a0001c0196t0001g0002 a0001c0200t0001g0002 a0001c0202t0001g0005 a0004c0148t0001g0060 a0004c0229t0001g0011 a0004c0230t0001g0021 a0005c0082t0001g0001 a0005c0083t0001g0001 a0005c0085t0001g0010 a0005c0090t0001g0059 a0005c0092t0001g0006 a0005c0093t0001g0003 a0005c0096t0001g0001 a0006c0028t0001g0001 a0006c0137t0001g0008 a0006c0140t0001g0003 a0006c0141t0001g0001 a0006c0220t0001g0089 a0006c0221t0001g0002 a0007c0118t0001g0014 a0007c0122t0001g0012 a0007c0209t0001g0026 a0007c0210t0001g0002 a0007c0211t0001g0076 a0007c0212t0001g0002 a0008c0103t0001g0006 a0008c0105t0001g0001 a0008c0106t0001g0003 a0010c0183t0001g0030 a0010c0224t0001g0085 a0010c0225t0001g0002 a0010c0227t0001g0021 a0014c0219t0001g0002 a0018c0169t0001g0001 a0018c0170t0001g0012 a0018c0171t0001g0001 a0018c0241t0001g0065 a0022c0186t0001g0005 a0030c0043t0001g0037 a0031c0048t0001g0064 a0054c0179t0001g0086	52	416	0.1250	1	c.200 others(5): Show c.2007dupC	p.Val others(5): Show p.Val670fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2030/2381	2008/2262	670/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071535	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show HG00408.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02293.hp2 HG02630.hp1 HG03130.hp2 HG03654.hp2 HG03688.hp2 NA18941.hp2 NA18946.hp2 NA18954.hp2 NA18969.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18998.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19066.hp2 NA19090.hp1 NA20805.hp1	a0001 a0004 a0006 others(4): Show a0001 a0004 a0006 a0007 a0010 a0012 a0023	a0001c0192 a0001c0194 a0001c0195 others(22): Show a0001c0192 a0001c0194 a0001c0195 a0001c0196 a0001c0198 a0001c0201 a0001c0202 a0001c0203 a0004c0008 a0004c0229 a0004c0230 a0004c0231 a0006c0220 a0006c0221 a0006c0222 a0007c0211 a0007c0212 a0007c0213 a0007c0214 a0010c0224 a0010c0225 a0010c0226 a0012c0005 a0012c0234 a0023c0174	a0001c0192t0001 a0001c0194t0001 a0001c0195t0001 others(22): Show a0001c0192t0001 a0001c0194t0001 a0001c0195t0001 a0001c0196t0001 a0001c0198t0001 a0001c0201t0001 a0001c0202t0001 a0001c0203t0001 a0004c0008t0001 a0004c0229t0001 a0004c0230t0001 a0004c0231t0001 a0006c0220t0001 a0006c0221t0001 a0006c0222t0001 a0007c0211t0001 a0007c0212t0001 a0007c0213t0001 a0007c0214t0001 a0010c0224t0001 a0010c0225t0001 a0010c0226t0001 a0012c0005t0001 a0012c0234t0001 a0023c0174t0001	a0001c0192t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 others(28): Show a0001c0192t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0196t0001g0002 a0001c0198t0001g0083 a0001c0201t0001g0002 a0001c0202t0001g0005 a0001c0203t0001g0011 a0004c0008t0001g0002 a0004c0008t0001g0005 a0004c0008t0001g0018 a0004c0008t0001g0079 a0004c0229t0001g0011 a0004c0230t0001g0021 a0004c0231t0001g0002 a0006c0220t0001g0089 a0006c0221t0001g0002 a0006c0222t0001g0002 a0007c0211t0001g0076 a0007c0212t0001g0002 a0007c0213t0001g0005 a0007c0214t0001g0002 a0010c0224t0001g0085 a0010c0225t0001g0002 a0010c0226t0001g0053 a0012c0005t0001g0002 a0012c0005t0001g0005 a0012c0005t0001g0011 a0012c0005t0001g0018 a0012c0234t0001g0002 a0023c0174t0001g0001	42	416	0.1010	-32	c.204 others(41): Show c.2041_2072delGTGCCGCCCACGGGTGACTCCGGCGCCCCCCC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP57_chr11_95785498_95837693	95827982	C C	A A	stop_gained stop_gained	HIGH	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0088 a0004c0009t0001g0088	1	340	0.0029	0	c.108 others(4): Show c.1082C>A	p.Ser others(4): Show p.Ser361*	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	9/11	1283/3141	1082/1503	361/500			chr11	TogoVar
CEP57_chr11_95785498_95837693	95827984	G G	T T	stop_gained stop_gained	HIGH	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0088 a0004c0009t0001g0088	1	340	0.0029	0	c.108 others(4): Show c.1084G>T	p.Glu others(4): Show p.Glu362*	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	9/11	1285/3141	1084/1503	362/500			chr11	TogoVar
CEP57_chr11_95785498_95837693	95828000	T T	G G	stop_gained stop_gained	HIGH	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0088 a0004c0009t0001g0088	1	340	0.0029	0	c.110 others(4): Show c.1100T>G	p.Leu others(4): Show p.Leu367*	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	9/11	1301/3141	1100/1503	367/500			chr11	TogoVar
CEP57_chr11_95785498_95837693	95828028	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0088 a0004c0009t0001g0088	1	340	0.0029	0	c.112 others(6): Show c.1127+1G>C		CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	9/10						chr11	TogoVar
CES5A_chr16_55841154_55880373	55871764	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp1 HG00735.hp1 HG00738.hp1 others(18): Show HG00323.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01516.hp2 HG01981.hp2 HG02083.hp2 HG02572.hp2 HG03209.hp1 HG03490.hp2 HG03654.hp1 NA18942.hp2 NA18960.hp1 NA18966.hp2 NA19079.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0031	a0001c0001 a0001c0002 a0002c0005 others(6): Show a0001c0001 a0001c0002 a0002c0005 a0003c0004 a0003c0013 a0004c0060 a0005c0008 a0006c0007 a0031c0042	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0006 a0002c0005t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0013t0002 a0004c0060t0004 a0005c0008t0002 a0006c0007t0001 a0031c0042t0002	a0001c0001t0001g0323 a0001c0001t0001g0338 a0001c0001t0001g0340 others(17): Show a0001c0001t0001g0323 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0003g0041 a0001c0001t0003g0085 a0001c0001t0003g0096 a0001c0001t0003g0103 a0001c0001t0005g0150 a0001c0001t0005g0192 a0001c0002t0006g0167 a0002c0005t0001g0237 a0002c0005t0001g0300 a0003c0004t0002g0339 a0003c0004t0003g0071 a0003c0004t0004g0072 a0003c0013t0002g0322 a0004c0060t0004g0070 a0005c0008t0002g0288 a0006c0007t0001g0019 a0031c0042t0002g0234	21	449	0.0468	0	c.279 others(5): Show c.279-1G>A		CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	2/12						chr16	TogoVar
CFAP251_chr12_121913592_122008919	121921285	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0046 a0004c0002t0001g0046	1	354	0.0028	0	c.-20 others(5): Show c.-20-1G>C		CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	1/21						chr12	TogoVar
CFAP99_chr4_2413955_2468002	2445228	A A	T T	stop_gained stop_gained	HIGH	HG01981.hp2 HG01981.hp2	a0010 a0010	a0010c0033 a0010c0033	a0010c0033t0001 a0010c0033t0001	a0010c0033t0001g0200 a0010c0033t0001g0200	1	350	0.0029	0	c.562 others(3): Show c.562A>T	p.Lys others(4): Show p.Lys188*	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	6/16	718/2173	562/1941	188/646			chr4	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0013 others(5): Show a0001 a0009 a0013 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0013c0015 a0016c0017 a0017c0028 a0018c0027 a0020c0024 a0023c0018	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0013c0015t0001 a0016c0017t0001 a0017c0028t0001 a0018c0027t0001 a0020c0024t0001 a0023c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0013c0015t0001g0046 a0016c0017t0001g0136 a0017c0028t0001g0102 a0018c0027t0001g0153 a0020c0024t0001g0107 a0023c0018t0001g0096	175	484	0.3616	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466			chr1	TogoVar
CLEC7A_chr12_10111777_10135199	10118488	A A	C C	stop_gained stop_gained	HIGH	HG01175.hp1 HG01981.hp2 HG02015.hp1 others(4): Show HG01175.hp1 HG01981.hp2 HG02015.hp1 HG02148.hp2 HG03710.hp2 HG04199.hp1 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0031 a0002c0002t0011 a0002c0002t0031	a0002c0002t0011g0063 a0002c0002t0011g0135 a0002c0002t0011g0136 others(3): Show a0002c0002t0011g0063 a0002c0002t0011g0135 a0002c0002t0011g0136 a0002c0002t0011g0185 a0002c0002t0011g0186 a0002c0002t0031g0211	7	450	0.0156	0	c.714 others(3): Show c.714T>G	p.Tyr others(4): Show p.Tyr238*	CLEC7A	ENSG00000172243.18	transcript	ENST00000304084.13	protein_coding	6/6	831/2542	714/744	238/247			chr12	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 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.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.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 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 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 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 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 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0010 a0005c0019 a0006c0013 a0007c0011 a0008c0012 a0010c0014 a0011c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0010t0001 a0005c0019t0001 a0006c0013t0002 a0007c0011t0002 a0008c0012t0007 a0010c0014t0001 a0011c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(255): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0239 a0001c0001t0008g0243 a0001c0001t0008g0250 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0263 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0226 a0001c0001t0013g0001 a0001c0001t0013g0048 a0001c0001t0013g0206 a0001c0001t0013g0210 a0001c0001t0014g0003 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0292 a0001c0001t0015g0248 a0001c0001t0015g0249 a0001c0001t0017g0186 a0001c0001t0017g0279 a0001c0001t0018g0255 a0001c0001t0019g0050 a0001c0001t0019g0201 a0001c0001t0020g0049 a0001c0001t0025g0007 a0001c0001t0026g0001 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0291 a0001c0001t0036g0003 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0036 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0044 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0035 a0001c0003t0023g0036 a0001c0003t0048g0152 a0001c0005t0002g0046 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0007g0120 a0002c0002t0007g0121 a0002c0002t0010g0002 a0002c0002t0022g0006 a0002c0002t0022g0128 a0002c0002t0041g0031 a0002c0002t0043g0032 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0102 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0087 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0010t0001g0228 a0005c0019t0001g0005 a0006c0013t0002g0124 a0007c0011t0002g0002 a0008c0012t0007g0044 a0010c0014t0001g0184 a0011c0018t0001g0004	355	424	0.8373	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNTNAP3B_chr9_41885536_42134426	41953235	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(31): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00642.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02135.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp2 HG02717.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 NA18947.hp1 NA18947.hp2 NA18968.hp1 NA18970.hp2 NA19090.hp1 NA20905.hp2	a0001 a0006 a0010 others(3): Show a0001 a0006 a0010 a0013 a0029 a0034	a0001c0001 a0001c0012 a0001c0042 others(8): Show a0001c0001 a0001c0012 a0001c0042 a0001c0043 a0001c0046 a0006c0007 a0006c0041 a0010c0013 a0013c0021 a0029c0045 a0034c0038	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0012t0002 a0001c0042t0013 a0001c0043t0015 a0001c0046t0016 a0006c0007t0002 a0006c0007t0011 a0006c0041t0002 a0010c0013t0003 a0013c0021t0027 a0029c0045t0002 a0034c0038t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(31): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0017g0012 a0001c0001t0018g0026 a0001c0001t0031g0098 a0001c0012t0002g0007 a0001c0012t0002g0009 a0001c0042t0013g0001 a0001c0043t0015g0013 a0001c0046t0016g0015 a0006c0007t0002g0014 a0006c0007t0011g0017 a0006c0007t0011g0021 a0006c0041t0002g0020 a0010c0013t0003g0103 a0010c0013t0003g0108 a0013c0021t0027g0064 a0029c0045t0002g0019 a0034c0038t0002g0016	34	108	0.3148	0	c.202 others(4): Show c.2028C>A	p.Cys others(4): Show p.Cys676*	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	13/24	2360/7652	2028/3867	676/1288			chr9	TogoVar
COL6A5_chr3_130340672_130489846	130471876	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18972.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(18): Show a0001 a0004 a0006 a0008 a0009 a0022 a0027 a0035 a0047 a0048 a0058 a0064 a0065 a0069 a0074 a0080 a0081 a0084 a0087 a0090 a0091	a0001c0001 a0001c0014 a0001c0040 others(23): Show a0001c0001 a0001c0014 a0001c0040 a0001c0082 a0004c0003 a0006c0005 a0008c0010 a0008c0026 a0009c0009 a0022c0024 a0027c0089 a0027c0090 a0035c0028 a0047c0084 a0048c0099 a0058c0107 a0064c0061 a0065c0060 a0069c0056 a0074c0106 a0080c0069 a0081c0080 a0084c0049 a0087c0076 a0090c0052 a0091c0078	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0014t0002 a0001c0040t0002 a0001c0082t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0006c0005t0001 a0006c0005t0002 a0006c0005t0003 a0008c0010t0001 a0008c0010t0005 a0008c0026t0009 a0009c0009t0002 a0022c0024t0002 a0027c0089t0002 a0027c0090t0002 a0035c0028t0001 a0047c0084t0002 a0048c0099t0002 a0058c0107t0003 a0064c0061t0002 a0065c0060t0005 a0069c0056t0001 a0074c0106t0003 a0080c0069t0001 a0081c0080t0011 a0084c0049t0001 a0087c0076t0001 a0090c0052t0003 a0091c0078t0002	a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0002g0010 others(98): Show a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0002g0010 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0003g0086 a0001c0014t0002g0185 a0001c0014t0002g0201 a0001c0014t0002g0238 a0001c0014t0002g0250 a0001c0014t0002g0255 a0001c0014t0002g0264 a0001c0040t0002g0240 a0001c0040t0002g0241 a0001c0082t0002g0253 a0004c0003t0001g0022 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0138 a0004c0003t0001g0207 a0004c0003t0002g0193 a0004c0003t0002g0194 a0004c0003t0002g0197 a0004c0003t0002g0199 a0004c0003t0002g0236 a0004c0003t0003g0087 a0006c0005t0001g0021 a0006c0005t0002g0008 a0006c0005t0002g0228 a0006c0005t0002g0230 a0006c0005t0002g0252 a0006c0005t0003g0017 a0006c0005t0003g0039 a0006c0005t0003g0041 a0006c0005t0003g0081 a0008c0010t0001g0108 a0008c0010t0001g0119 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0008c0010t0001g0169 a0008c0010t0005g0045 a0008c0026t0009g0164 a0008c0026t0009g0165 a0009c0009t0002g0094 a0009c0009t0002g0095 a0009c0009t0002g0096 a0009c0009t0002g0097 a0009c0009t0002g0100 a0009c0009t0002g0101 a0009c0009t0002g0281 a0009c0009t0002g0282 a0022c0024t0002g0003 a0022c0024t0002g0102 a0027c0089t0002g0200 a0027c0090t0002g0280 a0035c0028t0001g0099 a0035c0028t0001g0104 a0047c0084t0002g0271 a0048c0099t0002g0229 a0058c0107t0003g0072 a0064c0061t0002g0267 a0065c0060t0005g0042 a0069c0056t0001g0114 a0074c0106t0003g0078 a0080c0069t0001g0134 a0081c0080t0011g0059 a0084c0049t0001g0126 a0087c0076t0001g0274 a0090c0052t0003g0011 a0091c0078t0002g0276	104	292	0.3562	-1	c.777 others(5): Show c.7772delT	p.Leu others(6): Show p.Leu2591fs	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/41	8110/8969	7772/7845	2591/2614		INFO_REALIGN_3_PRIME	chr3	TogoVar

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