Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ACTN3_chr11_66541903_66568334	66560624	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0002 a0011 a0013 others(1): Show a0002 a0011 a0013 a0020	a0002c0002 a0002c0008 a0002c0011 others(7): Show a0002c0002 a0002c0008 a0002c0011 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0011c0016 a0013c0029 a0020c0028	a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 others(8): Show a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 a0002c0011t0001 a0002c0024t0001 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0011c0016t0001 a0013c0029t0001 a0020c0028t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0010 others(67): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0069 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0136 a0002c0002t0001g0153 a0002c0002t0003g0038 a0002c0008t0001g0040 a0002c0008t0001g0109 a0002c0011t0001g0001 a0002c0011t0001g0013 a0002c0024t0001g0101 a0002c0025t0001g0036 a0002c0026t0001g0124 a0002c0027t0001g0001 a0011c0016t0001g0001 a0013c0029t0001g0035 a0020c0028t0001g0001	150	400	0.3750	0	c.172 others(4): Show c.1729C>T	p.Arg others(4): Show p.Arg577*	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	15/21	1764/2882	1729/2706	577/901		chr11	TogoVar
AKR1C8_chr10_5148920_5190150	5159943	GTGATTGA others(229): Show GTGATTGAAATTGGACACCCCAATGGACCTGGTTAAACCTGCTTCTTTGC ACTTCTCCAGGGCCTGGGGAGGAAGGATATGGGTGATAGACCTTTAGTGT AAATTTTTCTTTTCAATTGGCGTTTGACTTTGTAAATGCTGGAAATCTGT TTTAACATATATAAATATTAGACTGAATTAAACAGTTTTATCACTTGAAT ATACAATTTCCTAATGCATTACCTTGCTATGCATATA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02523.hp2 HG02602.hp2 HG03239.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 NA18941.hp2 NA18953.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19079.hp1 NA19088.hp2 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0002 a0003c0006t0002 a0003c0004t0002 a0003c0006t0002	a0003c0004t0002g0005 a0003c0004t0002g0008 a0003c0004t0002g0009 others(27): Show a0003c0004t0002g0005 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0029 a0003c0004t0002g0030 a0003c0004t0002g0069 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0084 a0003c0004t0002g0085 a0003c0004t0002g0086 a0003c0004t0002g0087 a0003c0004t0002g0088 a0003c0004t0002g0089 a0003c0004t0002g0165 a0003c0006t0002g0028 a0003c0006t0002g0062 a0003c0006t0002g0063 a0003c0006t0002g0064 a0003c0006t0002g0065 a0003c0006t0002g0066	43	408	0.1054	-236	c.457 others(11): Show c.457-174_518del	p.Ala others(5): Show p.Ala153fs	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	5/9	564/1247	457/981	153/326		chr10	TogoVar
ALG13_chrX_111676170_111765649	111682131	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0006 a0011c0020t0001g0006	1	191	0.0052	-1	c.85d others(3): Show c.85delA	p.Ile others(4): Show p.Ile29fs	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	2/27	134/4113	85/3414	29/1137	INFO_REALIGN_3_PRIME	chrX	TogoVar
AMD1_chr6_110869785_110900713	110892724	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 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 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 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 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(77): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0004g0015 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0006g0005 a0001c0001t0006g0033 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0008g0031 a0001c0001t0009g0012 a0001c0001t0010g0004 a0001c0001t0011g0003 a0001c0001t0013g0047 a0001c0001t0014g0014	209	394	0.5305	1	c.616 others(6): Show c.616-3dupC		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKDD1B_chr5_75606453_75676846	75669297	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(139): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(10): Show a0001 a0006 a0007 a0010 a0013 a0015 a0017 a0018 a0020 a0021 a0022 a0023 a0024	a0001c0001 a0001c0019 a0001c0035 others(13): Show a0001c0001 a0001c0019 a0001c0035 a0006c0009 a0006c0015 a0007c0007 a0010c0011 a0013c0016 a0015c0025 a0017c0023 a0018c0022 a0020c0030 a0021c0031 a0022c0032 a0023c0033 a0024c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0019t0001 a0001c0035t0001 a0006c0009t0007 a0006c0015t0001 a0007c0007t0006 a0007c0007t0012 a0007c0007t0013 a0007c0007t0014 a0010c0011t0001 a0013c0016t0001 a0015c0025t0007 a0017c0023t0019 a0018c0022t0001 a0020c0030t0007 a0021c0031t0001 a0022c0032t0012 a0023c0033t0006 a0024c0020t0014	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0006g0084 a0001c0001t0006g0154 a0001c0001t0006g0196 a0001c0001t0006g0243 a0001c0001t0006g0246 a0001c0001t0017g0058 a0001c0001t0018g0123 a0001c0001t0021g0146 a0001c0019t0001g0074 a0001c0019t0001g0075 a0001c0035t0001g0070 a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0009t0007g0211 a0006c0009t0007g0212 a0006c0009t0007g0213 a0006c0009t0007g0214 a0006c0015t0001g0020 a0006c0015t0001g0208 a0007c0007t0006g0004 a0007c0007t0006g0156 a0007c0007t0006g0255 a0007c0007t0006g0257 a0007c0007t0012g0256 a0007c0007t0013g0038 a0007c0007t0013g0039 a0007c0007t0014g0155 a0010c0011t0001g0158 a0010c0011t0001g0164 a0010c0011t0001g0194 a0010c0011t0001g0265 a0010c0011t0001g0293 a0013c0016t0001g0029 a0013c0016t0001g0033 a0015c0025t0007g0252 a0017c0023t0019g0190 a0018c0022t0001g0083 a0020c0030t0007g0163 a0021c0031t0001g0159 a0022c0032t0012g0195 a0023c0033t0006g0249 a0024c0020t0014g0254	142	372	0.3817	0	c.143 others(4): Show c.1439G>A	p.Trp others(4): Show p.Trp480*	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	13/14	1621/2575	1439/1587	480/528		chr5	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
APBA3_chr19_3745772_3766692	3759559	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19058.hp2 NA19058.hp2	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0003 a0018c0024t0003	a0018c0024t0003g0180 a0018c0024t0003g0180	1	450	0.0022	0	c.616 others(5): Show c.616+2T>G		APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	3/10					chr19	TogoVar
APBB1IP_chr10_26433341_26572803	26438650	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19009.hp1 NA19058.hp2 NA19063.hp2 NA19009.hp1 NA19058.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247	3	358	0.0084	0	c.-20 others(6): Show c.-202-2A>G		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	1/14					chr10	TogoVar
ARPC5L_chr9_124857130_124882733	124862400	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0010g0002 a0001c0001t0015g0144 a0001c0001t0017g0133 a0001c0001t0021g0132 a0001c0001t0022g0054 a0001c0001t0027g0031	114	404	0.2822	0	c.-98 others(6): Show c.-984+2A>T		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	1/5					chr9	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
ATG2A_chr11_64889546_64922209	64898769	T T	TCCCCATA others(4): Show TCCCCATACTAC	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0029 a0029	a0029c0045 a0029c0045	a0029c0045t0001 a0029c0045t0001	a0029c0045t0001g0183 a0029c0045t0001g0183	1	372	0.0027	11	c.453 others(20): Show c.4537_4538insGTAGTATGGGG	p.Glu others(6): Show p.Glu1513fs	ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding	32/41	4611/6318	4537/5817	1513/1938		chr11	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
BST1_chr4_15698065_15737787	15722935	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18949.hp2 NA18989.hp2 NA19058.hp2 NA18949.hp2 NA18989.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238	3	442	0.0068	0	c.851 others(5): Show c.851+1G>A		BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding	8/8					chr4	TogoVar
BTNL2_chr6_32388339_32412181	32403192	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show HG00423.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20905.hp2	a0003 a0006 a0009 others(1): Show a0003 a0006 a0009 a0011	a0003c0004 a0003c0008 a0003c0021 others(3): Show a0003c0004 a0003c0008 a0003c0021 a0006c0007 a0009c0012 a0011c0020	a0003c0004t0002 a0003c0008t0001 a0003c0021t0002 others(3): Show a0003c0004t0002 a0003c0008t0001 a0003c0021t0002 a0006c0007t0001 a0009c0012t0002 a0011c0020t0002	a0003c0004t0002g0044 a0003c0004t0002g0070 a0003c0004t0002g0071 others(35): Show a0003c0004t0002g0044 a0003c0004t0002g0070 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0189 a0003c0004t0002g0190 a0003c0004t0002g0191 a0003c0004t0002g0192 a0003c0004t0002g0193 a0003c0004t0002g0194 a0003c0004t0002g0195 a0003c0004t0002g0196 a0003c0004t0002g0197 a0003c0008t0001g0006 a0003c0008t0001g0024 a0003c0008t0001g0122 a0003c0008t0001g0123 a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0126 a0003c0021t0002g0198 a0006c0007t0001g0005 a0006c0007t0001g0025 a0006c0007t0001g0055 a0006c0007t0001g0127 a0009c0012t0002g0069 a0011c0020t0002g0188	69	453	0.1523	-1	c.451 others(4): Show c.451delC	p.His others(5): Show p.His151fs	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	3/8	509/1564	451/1449	151/482		chr6	TogoVar
C3orf52_chr3_112081389_112123210	112109537	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19081.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0011 a0001c0012 others(6): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0004c0005 a0005c0006 a0006c0007 a0008c0010 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0011t0002 a0001c0012t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0004c0005t0002 a0005c0006t0002 a0006c0007t0006 a0008c0010t0002 a0009c0008t0002	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0004g0029 a0001c0001t0004g0112 a0001c0001t0006g0061 a0001c0001t0007g0033 a0001c0001t0007g0132 a0001c0001t0007g0134 a0001c0001t0011g0135 a0001c0001t0012g0060 a0001c0011t0002g0140 a0001c0012t0002g0131 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0097 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0006g0045 a0002c0002t0006g0075 a0002c0002t0006g0076 a0004c0005t0002g0013 a0005c0006t0002g0095 a0005c0006t0002g0096 a0006c0007t0006g0057 a0008c0010t0002g0065 a0009c0008t0002g0059	157	372	0.4220	1	c.397 others(6): Show c.397-3dupT		C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr3	TogoVar
C9orf43_chr9_113405747_113434690	113428964	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(19): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00738.hp2 HG01070.hp2 HG01168.hp2 HG01169.hp2 HG01515.hp2 HG01517.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 NA18747.hp1 NA18954.hp2 NA19004.hp1 NA19058.hp1 NA19062.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0007 a0001c0001 a0012c0007	a0001c0001t0001 a0012c0007t0008 a0001c0001t0001 a0012c0007t0008	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0084 a0012c0007t0008g0003	22	310	0.0710	0	c.117 others(6): Show c.1171+1G>A		C9orf43	ENSG00000157653.12	transcript	ENST00000374165.6	protein_coding	13/13					chr9	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
CBY2_chr13_45697320_45719559	45713882	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00597.hp2 HG01928.hp1 others(33): Show HG00140.hp2 HG00597.hp2 HG01928.hp1 HG01943.hp2 HG02074.hp2 HG02148.hp2 HG02155.hp2 HG02300.hp2 HG02602.hp1 HG04184.hp1 HG04228.hp1 NA18952.hp1 NA18957.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18991.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA20129.hp2 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0015 a0003c0019 a0003c0003 a0003c0015 a0003c0019	a0003c0003t0001 a0003c0015t0001 a0003c0019t0001 a0003c0003t0001 a0003c0015t0001 a0003c0019t0001	a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 others(6): Show a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0011 a0003c0003t0001g0056 a0003c0003t0001g0082 a0003c0003t0001g0102 a0003c0015t0001g0003 a0003c0019t0001g0003	36	440	0.0818	0	c.857 others(3): Show c.857C>A	p.Ser others(4): Show p.Ser286*	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding	3/3	928/1605	857/1347	286/448		chr13	TogoVar
CCDC138_chr2_108781771_108881578	108788018	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show HG00099.hp2 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18945.hp1 NA18955.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19070.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0002c0002 a0003c0003 a0004c0007 others(4): Show a0002c0002 a0003c0003 a0004c0007 a0005c0009 a0006c0008 a0007c0014 a0008c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0001 a0004c0007t0002 a0005c0009t0001 a0006c0008t0001 a0007c0014t0001 a0008c0015t0001	a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 others(75): Show a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0182 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0207 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0190 a0002c0002t0003g0187 a0002c0002t0003g0189 a0002c0002t0003g0191 a0002c0002t0003g0193 a0002c0002t0003g0196 a0002c0002t0004g0188 a0003c0003t0001g0002 a0003c0003t0001g0135 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0184 a0004c0007t0002g0122 a0004c0007t0002g0123 a0004c0007t0002g0124 a0004c0007t0002g0125 a0004c0007t0002g0126 a0005c0009t0001g0165 a0006c0008t0001g0166 a0007c0014t0001g0136 a0008c0015t0001g0194	79	220	0.3591	1	c.94- others(5): Show c.94-3dupT		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC7_chr10_32441140_32887864	32518506	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(44): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01071.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02293.hp1 HG02602.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03516.hp2 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA19058.hp2 NA19068.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0020 a0001 a0020	a0001c0002 a0020c0018 a0001c0002 a0020c0018	a0001c0002t0001 a0020c0018t0001 a0001c0002t0001 a0020c0018t0001	a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 others(44): Show a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0020c0018t0001g0196	47	368	0.1277	0	c.993 others(5): Show c.993+1G>T		CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	12/43					chr10	TogoVar
CD74_chr5_150396639_150417910	150406258	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	408	0.0025	0	c.441 others(5): Show c.441+1G>A		CD74	ENSG00000019582.17	transcript	ENST00000009530.13	protein_coding	4/8					chr5	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
CEP89_chr19_32870925_32976958	32923512	G G	GGACTCGC others(13): Show GGACTCGCATCCTAAACATTC	frameshift_variant frameshift_variant	HIGH	NA19058.hp2 NA19058.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0003 a0010c0020t0003	a0010c0020t0003g0122 a0010c0020t0003g0122	1	386	0.0026	20	c.117 others(29): Show c.1175_1194dupGAATGTTTAGGATGCGAGTC	p.Gln others(5): Show p.Gln399fs	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	12/19	1278/5673	1194/2352	398/783		chr19	TogoVar
CEP89_chr19_32870925_32976958	32933646	T T	A A	stop_gained stop_gained	HIGH	NA19058.hp2 NA19058.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0003 a0010c0020t0003	a0010c0020t0003g0122 a0010c0020t0003g0122	1	386	0.0026	0	c.691 others(3): Show c.691A>T	p.Arg others(4): Show p.Arg231*	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	8/19	775/5673	691/2352	231/783		chr19	TogoVar
CHRM1_chr11_62903679_62926363	62910396	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00639.hp2 HG01099.hp2 HG01106.hp2 others(12): Show HG00639.hp2 HG01099.hp2 HG01106.hp2 HG02055.hp2 HG03710.hp2 HG03831.hp1 NA18950.hp2 NA18993.hp1 NA19009.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19072.hp1 NA19072.hp2 NA19082.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0001 a0002c0004t0003 a0002c0007t0001 a0002c0004t0001 a0002c0004t0003 a0002c0007t0001	a0002c0004t0001g0058 a0002c0004t0001g0064 a0002c0004t0001g0088 others(12): Show a0002c0004t0001g0058 a0002c0004t0001g0064 a0002c0004t0001g0088 a0002c0004t0001g0092 a0002c0004t0001g0101 a0002c0004t0001g0111 a0002c0004t0001g0114 a0002c0004t0001g0119 a0002c0004t0001g0126 a0002c0004t0001g0134 a0002c0004t0001g0136 a0002c0004t0001g0147 a0002c0004t0003g0051 a0002c0007t0001g0130 a0002c0007t0001g0131	15	420	0.0357	1	c.704 others(4): Show c.704dupG	p.Gly others(5): Show p.Gly236fs	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding	2/2	928/2646	704/1383	235/460		chr11	TogoVar
CPN2_chr3_194334768_194356328	194341178	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(133): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18981.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0010 others(4): Show a0002 a0005 a0010 a0011 a0013 a0014 a0018	a0002c0002 a0002c0011 a0002c0014 others(7): Show a0002c0002 a0002c0011 a0002c0014 a0002c0016 a0005c0006 a0010c0030 a0011c0029 a0013c0028 a0014c0027 a0018c0024	a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 others(17): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0013 a0002c0002t0017 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0011t0003 a0002c0014t0002 a0002c0016t0005 a0005c0006t0001 a0005c0006t0003 a0010c0030t0003 a0011c0029t0001 a0013c0028t0003 a0014c0027t0003 a0018c0024t0001	a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0006 others(62): Show a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0016 a0002c0002t0003g0031 a0002c0002t0003g0039 a0002c0002t0003g0068 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0093 a0002c0002t0003g0106 a0002c0002t0003g0122 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0140 a0002c0002t0003g0161 a0002c0002t0003g0164 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0179 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0198 a0002c0002t0003g0209 a0002c0002t0005g0018 a0002c0002t0005g0048 a0002c0002t0005g0149 a0002c0002t0005g0151 a0002c0002t0005g0169 a0002c0002t0007g0011 a0002c0002t0009g0025 a0002c0002t0009g0168 a0002c0002t0013g0174 a0002c0002t0017g0061 a0002c0002t0021g0153 a0002c0002t0022g0211 a0002c0002t0023g0090 a0002c0002t0024g0172 a0002c0011t0003g0040 a0002c0014t0002g0201 a0002c0016t0005g0148 a0005c0006t0001g0028 a0005c0006t0001g0050 a0005c0006t0001g0070 a0005c0006t0001g0074 a0005c0006t0001g0108 a0005c0006t0001g0111 a0005c0006t0001g0112 a0005c0006t0001g0119 a0005c0006t0001g0125 a0005c0006t0001g0136 a0005c0006t0001g0147 a0005c0006t0001g0154 a0005c0006t0003g0124 a0005c0006t0003g0142 a0010c0030t0003g0120 a0011c0029t0001g0126 a0013c0028t0003g0089 a0014c0027t0003g0210 a0018c0024t0001g0113	136	440	0.3091	0	c.152 others(4): Show c.1525C>T	p.Gln others(4): Show p.Gln509*	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	2/2	1615/3025	1525/1638	509/545		chr3	TogoVar
CPNE1_chr20_35621044_35669900	35627312	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02717.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp2 HG04115.hp1 HG04228.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18972.hp1 NA18979.hp1 NA18988.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19077.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0079 others(41): Show a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0011t0001g0078	46	272	0.1691	1	c.120 others(5): Show c.1203dupT	p.Ala others(5): Show p.Ala402fs	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/16	1344/1952	1203/1614	401/537		chr20	TogoVar
CR1_chr1_207491157_207646765	207542737	CACATGTG others(18550): Show CACATGTGCTGAAATTGAGAAGCAAAGCTCAACCTGGGCAAGGGATATGA TGTTTCTTTGGGGTTCTTATAAACAGATCTATCAATTACCTTTGAGTATA ATAATGTTTGATACAAAATGAGTGATTCCTCTGCCCAGGCACTATAATAC AGGCTACATGTGAATTTTAATCCTGAAAACAAAGTTATTAGGTAGTTCCC AGTTGTTCTATGTTTGTCTGTTTTGTTTTGCTTGAGATACTGTCTTGATC TGTCACTCAGGTTGGACTGCAGTGGTGCCATCATGGCATACTTCACCCTC CACCTCCCTGACTCAAGCAAGTCTCCTGCCTGAGCCTCCCAAGTAGCTGG GAATGTAGGTGCATGCCACCATGCCTGGCTAAGTTTTTTATATTTTTTTT GTAGGGACAGAGTCTCACCATGCTGCCCAGGCTGGTCTCAAACTCCTCAG CTCAAGCACCCACCCACCTTGGGCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTGTGCCCGGCCTCTATGTTTTACAGAGAATATGTGCCTTAGAC ACATCAGATAACATTCTGAGACAGTAACTTGCAGACAAAACTGGATTGCA AGTCCACCTCACTCCAGAGCCTTGGCTTTGCTCATCAGCATTCAGTCATG AAATCAAAACTTACTCTAGATACTTTCAAGGAGGGAGGGATTTCATGCAG GTTGTATTAGTCTGTTCTCACATTCCTATAAAAAACTACTTGAGCCTGGG TAATTTATAAAGAAAAGATGTTTAATTGACTCAGAGTTCTGTAGGCTGTA CAGGAGGCATGGCTGGGAAAGTTACAATCATGGTGGAAGGCAAAGAGGAA GCACGCATATCTTCATATGCTTGGCAGGAGAGAGAGAGAGAGCAAGGCAG AGGTGTTACAGACTTTGAAACAAGCAGATCTTGACAGAACTCTATCACAA GACAGCACTAGGGTGATGGTGCTCAACCATTAGAAACCACCTCCATGATC CAGTCACCTCCCACCAGGCTCCTTCTCCAACACTGGGAATTACCATTTGA CATGAGATTTGGGAGGGGACATAGAGCCAAACCATATCGCAGCTAATAGG TCACAAAAATGTTAGAAGGGCAGGAAAAGCAATAGGACAAAGGCAAAGTT ACGAGAGATCAGGGAGCTGCTGTGGCTCCCAGTCTACAGCACAGGAGCCT GGAGTGATGGTGAAATGGCCAGCCCCTCCCACTGAGCAGGCAGCTCCCTG TAAGCTGCTAATACTGCAGGAGCCACCATTGCTGCCAGAATGCAGCTGAT ATTGCTGGAGCCAAAGTCATTGGCATCGTTACAATTGAAGCTGTAGCTAC TCACTGAAGCCATCTATACTGCCACTGCCTGAGCCACTTCTAGAAGTAGA ACAGATTCTGCCATCATCCTGCTTTTTAATTTGGTATATATGCCTCCAAT TGGCAGAACCTAACCAGAGCCTAGCTATCAAGGAAGATGAACGATTTATT TTTAAGGCCTCCATTGTTAGCTGTCAAAAGACAGTGCAGAAATGTGAGGC TGGGGGCCAACAGAAATTTAACCAGCACAGCACCTCAATATTACATCACC AGGCATTGATTAGTCCAGGGAAACACTGGGTGATGAGCCCTGAAAATGGA CATTACAGCATCAGAGTATTTACAAACTCCTTAAAGAAGTCATTTTTCTA TTCCAATCCCCCATTTGATGCTTGAGAAAGCTGAAGTCCAGAAAAGGGAA CTGATCTGCTCAAAGACAAACTGAAATTACTTTTTCCATTTTATAACAGT TTTATGTAATTTATTTGAGATCCAAATGTGTTTTGATTTCCCAAGATCAG ATCAACTACATTAAGAGAGAGCCTGAGATGCCGTTACAATATGTTGTGTG AAATTACACTCTCATTATGGTGACAGTAGGTCTTTCAGATTTTGTTCGAC AGTTTCCCACCTTCTCACTGAAGTGAAATGAATGACTAGGCAGCACCTTG CTACATAGCATGAAGAGAGGAGACCCATAGTTCTTTACCACCCTATGTCA GGTGGCCGCTGAGAGAAGACTTGAAAGGAGATGAGCATAGATGTATGGAC GCTCTTTGTTGCACCAGTGTGATAGGTGATGGAGGGACCTATTAGATGGG ACATGGGCAGGGGCACTCCTTTATTGCTTAAAATGCAAGACTAAATTGGT GATGCCTTTCTAGAAAGGAAGTATGAAGATACAAAAATCCATCATTCCTC CCAATTTTGTACTGGGTGAACAGTAATTGGAAGCATTCTAGAAGGAACTG TCCATTGTGAAATCTTAGTTGCATACTTTAGATGAAAAACAATGAATTGG AGATACCTCTGTTTTAGTCACAGTTGTGCCATGTGTCAGTTCTATGACTG ATGGCAAGACATCTTCCTTGCCCCGTGTATTTAGTTTATCAATGTAATAA GGCTGTTATTCTAACTTTATTATTATATATAGATTCGTAATTATTATTCC CTTGGCCAGTTTAACAGTGAGAAAAAAGTTGTTTTCACACAATTAGCTGT ACTTTGTTTCTCTCTCCCCAGTATGTCAGCCACCTCCAGATGTCCTGCAT GCTGAGCGTACCCAAAGGGACAAGGACAACTTTTCACCCGGGCAGGAAGT GTTCTACAGCTGTGAGCCCGGCTACGACCTCAGAGGGGCTGCGTCTATGC GCTGCACACCCCAGGGAGACTGGAGCCCTGCAGCCCCCACATGTGAAGGT GACTAGACTCTTATCTGGCTTGATATTTTTAGCTTGCGTCTTTATTCTCC ACATGCCAGTGATTTCTGTTCGTTTTTCTTTATCTCCAGTGAAATCCTGT GATGACTTCATGGGCCAACTTCTTAATGGCCGTGTGCTATTTCCAGTAAA TCTCCAGCTTGGAGCAAAAGTGGATTTTGTTTGTGATGAAGGGTGAGTAT GAGCTTGCCTGACCTGCTGGACATTGAAATTGGGGTTGGGAATCAGTCTA AAAAGGGGAGATTTGGTGTGGCACACACACACACACCTTCAGAGAGATGA ACTTTCGAAAGTATACCTAGGAAGAAAGGAAAGAAACATATAGAACTAAT AACATGAGATATGAAGAGGAAACTGGAACATATATTAACTGGCAAGTTCA AAGGCAAGTATAACTACTGGTTATGAATATATAAGTAACACATTAAGCAA AAAATATCAGCCAGAAACGGTGGCTCACCCCTGTAATCCTAGCACCTTTG GGAGGTTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCT GGACAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCTGG GTGTGGTGGCATGTGCCTGTAATCCCAGCTATTCCGGAGGCTGAGGCACC AGAATCACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCCGAGATGGCAC CATTGCACTCCAGCGTGGACAATAAGAGTGAAACTCCATCTCAGGAAAAA AAATCATATTTTACAAGCAAAAAGGAATATGAGTAATTTAGAGAGTCCCA GGAAAAAACTGGAAGTAACAAAAGCTTATTATAAAAAGCTAGGATCATTT GTGAATCATTTCAGTAAATTCTTTAAATCGTCAACAGTGAAATTTGTAAT AGGACTGAAAATGTAAAAATCAGCATTTTTTAAAAAAATCCAGCCATATA TCATCTGGTTAATCATGGGCTCTGGGCTCTGAGCTGGGGTCCTGATGGCT GCTGTTAATATTTCCAGCAAGCTCATTACCTTGTTTATGTCCACCTAGTG CTCTTCGCAGGGTGCACATCTCTACACGGGAGCTGACCGGCATGGGCAAC AAAGCACCTGATCCCAAAATGTAACACAGAATCTTGGCAGCCTCCAAATG CCAGCACCCAGTAAGAGTTAGGAGGGCATCGGGGTCCAGCAGACATTGAG AATTTTCGACAATTGCATGCAAAAAATAAGTCCTCTCTTCTTTCCTTTTT CCCCTAGAATATTCATGCTTACTCTTCAGCAGCCCAAATTGCCCTTTTGA GCCTTCTTCACGCCATCACAGATGTGGAGATGAAAGGACAGTCTGTTCTC TCGCCAGCTATTTCCCACTTTTCCACTCCAAACTGGGAGCTGTTTTACTT GCTGTTCCAGGGTCAGAGTTAGGAAGGCATTACATTAGAAGACTGGGTTT CTAATAACAACAATGAGTGATTTATCAGGTTATCATGGAGTAATCAGTGA AACTCCAAGCCTGGGTCCTGGGTCAAGGGGATGGCGCCTATGTCATGACC ACCTTTTTCAGTTCAAGCAGGACTATCATGTGACCAAGCTACTGCATTTT GCCATTCTATATTGTTCCCTTCTGGAGGCTGTGATTTTTCCAGAATAAGG TAGCCTGTGCAACTCTGCCACCTGCTGGCCTAAGGTCCTAATAATCCTGA AATTGGGGCTGGGCCTTAGATTGTGAACTAAGGGTTCTCTTGGCTGAAAC AGCTCACACTATTCACTCCTATTTTCTTCTTTAGATTTCAATTAAAAGGC AGCTCTGCTAGTTACTGTGTCTTGGCTGGAATGGAAAGCCTTTGGAATAG CAGTGTTCCAGTGTGTGAACGTGAGTAGCAGGAGTAACATTTCAGGCCAG TCTCTCCCTTCATCTGTTCAGTATTTGACCCATGACCTCCCCTAATGTGG TTCTTCAATTTTCTAGTTTGAATTATTGATTTGAAAATTGCTTATTTTAA TAATGTTTGGTTGTGAATCAAATGTATACATCACCTGTCTTTGGAACCAT CTGATCTGTCTCTGTCCTTCTGTATTCTGTGTTCTAGTGCGATAAATCCT ATGGTAGCATGATTCTAGGTCAGGAGAGATTAGATAATGTGAAGCCTTAA CAATTTGCTTTCTTTCTCTCTTTCTTTTGTTTCTTTTTTCTCTTCCTTCC TTTCTTCAGTTCTTTCTTCCCTTCTCTTTCTCTCCCCTTTCTTCCTTCCT TCCTCCTTCTTTCTTTTCCATTTTGTTCTTCCATCAGGTGCAGTCTACAA TTTTTGTATATATTTGATAATACACAAATATTAAACATGCCTTTATTTAA TCAATATTTATTGATCACATACTTTGTGCCTGATGTTCATCTAGCCACAG GAGTTATATCAGTGAACAAGATGAATGAATTCCCTGTCCCCATGTTGTTT CCACTCAGTTGGGGAAAGGGACAAGAAAAAAAATAAATACGATGCTATGA AGATAGTAGAGCAAAGCATTTAGGCATGAGGGAAAAGTGAGGAGCAACAT TAGACAAGGCGAGCAGTTTGAGACTCCTTAAATTCTCAAAACATGTACCT AAATAATTTATGCTGAGAGATTCATAAATAATGTCATTTTTAAAAATTTA TTATACTTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTAC ATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATT TACATTAGGTATATCTCCTAATGCTATCCCTCCCCGCTTCCCCCACCCCA CAACAGGCCCCGGTGTGTGATGTTCCCCTTTTTGTGTCCAAGTGTTCTCA CTGTTCAATTCCCACCTATGAGTGAGAACATGTGGTGTTTGGTTTTTTGT CCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCC TAAAAAGGACATGAACTCATCAATTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGATGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAATGCAGCAATAAACATATG TGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATAC CCAGTAATGGGATCGCTGGGTCAAATGGTATTTCTAGTTCTAGATCTTTG AGGAATCACCACACTGTCTTCCACAATGGTTGAACTAGGTTACAGTCCCA CCAACAGTGTAAAAATGTTCCTATTTCTCCACATCTTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATAGCCATTCTAACTGGTGTGAGATGGTAT CTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCA TTTTTTCATGTGTCTGTTAGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATATCCTTCACCCACTTTTTGATGGGGTTGTTTTTTTCTTTTAAA TTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAG TAGATTGCAAAAATGTTCTCCCATTCTGTAGGTTGTCTGTTCACTCTGAT GGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTATATCCCCTT TGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAG TCCTTGCCCATGCCTGTGTCCTGAATGGTATTGCCTATGTTTTCTTCTAG GATTTTTATGGTTTTAGGTCTAACATTTATGTCTTTAATCCATCTTGAAT TAATTTTTGTATACAGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACAT ATGGCTAGCCAGTTTTCCCAGTACCATTTATTAAATAGGGAATCCTTTCC CCATTTCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTAGATGT GTAGTATTATTTCTGAGGGCTCTGTTCTGTTGCATTGGTCTATATCTCTG TTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAG TTTGAAGTCAGGTAGTTTGATGCCTCCAGTTTGTTCTTTTGGCTTAGGAT AGACTTGGCAATGCAGGCTTTTTAAATAATGTCATTTTTAAAAAATGAGC CCCATATGTTCAATAATGAGTAGACTACTGATTTCTCCTAGTCTCCCCAT TTATAATTTCCCCAATAGAAGATAGAACTTTGCTTCATTTCTTGATTCTA ATGATTGGGAAATGTGTTTCTTTAGAAAACCATGAAATTTTACTAAAATG TTTATGTTGTTAGAAATGGACATCTTACAGTGCTTTTTAGAGTAAAATTT TGGAAGAACATAACTTATATAGAGATTCTTGCTGTCTAAGAAATTCAGTG CTCCTTGAAGCAGCATGACAAATTTCTGTTCTACCATCATGAATGAAAGC TCATTGATTGGACTACTCAAGCTTTCTCTTATTTTTCATAACTGTTGCTA GTTAAAGTAGCTTCTTCCAAATTCCAGTTCTAATGAAAAATGCCAATTAG AAATGAGGAAGAAACTGTTCTAAACAAATCAGCAGATGCTAGAAAGGAGA AACAACTTGAAACCTGACCCAGAAAGTTAAAAGAGAAAATAAATCATCAA CAGACCTAGACATTTTCAAAAGCAAAGCCATCTGAATCCATTTGGAGTTG TTTTTTATCATGGCCTTACTATGTTTTAATTCACTGTGACAGGGCTATTG TTATCACTGAGATTGATGATCAATATCAAGAAGTAATCAGCGAAAGGTTT CACCTATTTAAGATGATTAGCACACATATGTACATTTGAGAAATATTTCC TAAGAATGCAGGCTCCTTCCTCAGCACTCTGTCCCCAGGATCCTGATGAG TGGCTGACACAGGACAAGTGCTTAATTAATATATATTGACTAAATGAATG AGCAACCCTTCAAAATGGCTATTTTTCTTTTTCAAATGTTTTGCTACTTC ATTAAAGTTGTAAAGTTTCCATTGTCCAGGAACCGTTACTATCCGGAAGA TTCAGGATAGACAAGTCTCTTTTGTACTTTGCAATACACTTTCATTGATA TCTCATTTAATCCAACTCTTCAAAGTCCTAATGTCTACTGTCATCTCCTT AGCATATTTTCAGCAACACCAATCATAGCACCCTGTAATTGCAGAATACC TCTGGTGAAACTCCTGAATGAAACTTAGAGCTTTCATGTTTTTTCTAGAA ATCTTTTGTCCAAGTCCTCCAGTTATTCCTAATGGGAGACACACAGGAAA ACCTCTGGAAGTCTTTCCCTTTGGGAAAACAGTAAATTACACATGCGACC CCCACCCAGACAGAGGGACGAGCTTCGACCTCATTGGAGAGAGCACCATC CGCTGCACAAGTGACCCTCAAGGGAATGGGGTTTGGAGCAGCCCTGCCCC TCGCTGTGGAATTCTGGGTTAGTGCTCATTTCCCCACATCCCAAATGGGT TCAGAATATCTAACCCAGGCCCTCCATATTTCCGTAATTACAATGTGGTA TTTATTTGTGCATTTGCCACAATGGAATGCCAAACCAATGATAGATGGTT CTAAGGTAGGTCAACACATAAGATCCTGATGACCTTTGCAGATGGAGGGA CTGATGAAAAAAGAGGGAGGCGGTGAGTGGTGGGAAAGTCCTTCATTAGA ATCATATGAATTAAAAACAGATGCCTGTGAATCTCCTTATTGAAATGTTT GGTTTAGAAATCTGACCTAGAAAATCGGTGGCTCCTTCTGCCAGGAAACG TCTTGAGTTCCCGCCCATGCTTGACAGCCTCTCATTGGAGTTTTGATGAC TTGAAGTACAAGGAAACCAGACAGGAAAGGTGGAACCTGGGCAGAAAAAC TCTTTCTGGCTTCCTAAAAATGTGAAAAATTAAATGGGAGCTATCTTTAC ATTAAATTATATGAGCATTAGCTGAGCGTGGTGGCAATTGCCTGTGGTCC CAGCTACTCGAGAGGCTGAGATGGGAGTATCCCTTAAGCCTGGGAGGCAG AGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACCCTATCTCAAAAACAATAAAAATAGGCATTAGGAGGCCAAGG CTGGTGGATCACTAGAGGTCAGGAGTTCCAGACCAGCCCGCAAACACAGT GAAACTCCAACTCTACTAAAAATAGAAAAAAAATTTAAAAACAAAAATAA ATTATATGAGTAGAAAGACCAGATAGCAGGCTAGTCTTCCAAATAATATA CTTCCTTATAAGCCTATGCTAATGGAACTTTCCTTTCTATTTTACAGGGA AGTTTTTTTTTTTTCATAACTAAAATTTTCTTTTCTTCTGGCATCAAATC TACCAAGGAAGAGAAAAGAGGAAACACACTGGGTATCTTTTTATTAACTC AAATATTCTTGATTTCTTGGTCTCTAGGTCACTGTCAAGCCCCAGATCAT TTTCTGTTTGCCAAGTTGAAAACCCAAACCAATGCATCTGACTTTCCCAT TGGGACATCTTTAAAGTACGAATGCCGTCCTGAGTACTACGGGAGGCCAT TCTCTATCACATGTCTAGATAACCTGGTCTGGTCAAGTCCCAAAGATGTC TGTAAACGTGCGTAAACTTGCGTTGGATCTTTCCCATGTCTGCAAAAGCT TCTTATGGAATTATTTCAAATGTGGGATATGAGAAACCTTTTCTGAAAAG TGTTCGGATAGATGGATGTAAGAGTTTTTCTTGTAGGCATCCTTGATTGT TGCTTGAAATGTTAACTTCATGAGAATGTTTCAAGAAATAGTTGTAGAGA AAATCTTCATTCCCTATGGGAAAGAAAATAATAAATGACTAGATCAGGAA AAAAATGGTGTAGGAAGACAAATTCTGTTTGAATAACTAGGTGGGAAGAA ATCCTTTGCAAACTTTGAAATATATTGATAGTAAATAATGCCATAAATGA CCTTTACATTTTGATAAGGGATGCAAGGTCTCTACACAGATCTAAATCTA GATCTAGATAGATCTGGAGGGAAGGTCTTTTTGAAAGTGGGGCTTAGTAG GTGGCTGATCCTCAGCGCTCTGATGAGTTTTCTCAAGGTGCCAAAATCTG TGGAACCATCAGAACCGCGTGTTTTCTTCAGGAAGCTACATGCAGGTTGA GACCTTACGTACTGAAGAGAGTTCAGATTACTCTACCTGGCTCCAAAACA TTTTCTTTCCCACAGGTAAATCATGTAAAACTCCTCCAGATCCAGTGAAT GGCATGGTGCATGTGATCACAGACATCCAGGTTGGATCCAGAATCAACTA TTCTTGTACTACAGGGTGAGTTGGCAGCAACATCTCTTGGTTTAAGAGTT CCAGCACAGCGATAGTACTTTCTAGCCACATCTCAGCAAGGAAACTAGGC TATTGCCACCTGCTCTTAAGAGGCTTGAACACAGGTGTTAACTCCTGATT GAAATGAACAAAGATAGGAGAAGATTAGGGGGAAAATCTGTATCCTTGCT GGAAACCAGGGCAGTGCACATATAAAGAGTATGCTGTTCACTGGATGGGA AAGAAAAAAAATTAGAAGTGTAGTAGTCAAAGCACACAAACAACCCTAAC CCAGAGTAGACATTGCTGGAAGAAAGGGAAGACCATGTAGCAGCTGTGTG AGAGAATGAATCTTAATGATAACAGCATGATCCCTTGCTAGGGCTGCCAT CAAAAAGTACAGGCCTTCCTCGTTTTATTGTACTTCGCAGATGTTATGCT TTTTACAAATTGAACGCTTGTGGGAACGCTGTGTAAGCATGTTCGTCGGC ATCATTTATCCAACAGCGTGTGTTGACTTCGTGTCTCTGTGTAGCATTTT GATTATTCTCACAGTATCCCAGATGTTTTCATTATTATCATGTCTGTGAT AGTGATCTGTCATCAGTGATCTTTGATGTTACTATTGTCATTGTTTGGGG TCCCTACGAACTGCACCCATATAAGACAGAAAACTTAATCAATAAATGTG CGTGCTTTGACTGCTCCATGGACTAGACATTCCCCTTCTGTCTCCCTCTC TTCAGGACTCCCTAATCCCTGAGACACAATAATACTAAAATGACTCCAAT TAATAACCCTACAATAGCCTTTAAGTGTTGACATGAAGGGAAGAGTCATG CATCTCTTACTTTAAATCAAAAGCTAGAGATGATTAAGCTTACTGAGGAA GATACGTTGAAAACCAAGATAGGCCAAAAGCCATTCCTCATGTGCCAAAC AGCTAGAAAGTTGTAAAGGCAAAGTAAAAATACTTGAAGGAAATTTAAAA TGCTCTTCCAGTGAACACATGTATGATAAGAAGGTAAAACAGCCTTATTG CTGATATGGAAGAAGTTTTAGTGGTCTAGATATAAGATCAAACTAGAAAC ATTTCCTGAAGCCAAAGCGTAATCCTGAGCAAGGCCGTAACTCTCTTCAA TTCTGTGAAGGCTGACAGAAGCTGGAAGCTAGCAGAATTTGGTTCCTGAG GTTTAAGGAAAGAAGCCCTCTCCATAACATAAAGGTCCAAGGTGAAGCAG CCAGTGCTCATATAGAAGTTGCAGCAAGTTATCTAGAAAATCTAGCTAAG ATCACTGACGAAGGTGTTACACTAAATAACAGATTTTCCATGTAGACAAA ACAGCCATCTATTGGACTTTCATAGCTAGAGAGGAGAAGCCAATACCTGG GTTCAAAGCTTCAAAGAACAGGCTGACTTTTTAGGAGCTAATGCCGCTGG TGACTTTGAGTTGAAGCCAATGTTCACCGACCATTCTAAAAATCCTAGGG CCCTTAAGCATTAAGTTAAATATACCTTGCCTGTGTCTATAAATGGAAGA ACAAAGCCTGATGACAGAGGTATGTTTGCGGCATAGTTTACTGAATATTT TAAGCCCACTGTTGAGATCTAGTGCTCAGAAAAACAGATTCCTTTCAAAA TATTACTGCTCATTGACATTGCACCTAAGCAGCCAAGAGCTCTAATGGAG ATGGACATGGAGATGAATGGAGTTTTCCTGCCTGCTAACAACGGCAGCCA TTCTGCAGCCCATGGCTGAAGGAGTAATTTTGACTTTCAAGTTTCACTAT TTAAGAAATACATTTTGTAAGGTGAGTCCCCACAGACAGTAATTCCTCTG ATGGATCTGAACAAAATAAGTTGAAAACTGCTGGAAAGAATTCATCATTC TACATACCATTAAGAACATTCGTGATTCATGGGAAGAGCTTAAAATATCA ACATTAATAGGAGTTTGGTAGAAGTTAATTCCAACCCTCATGGCTGACTT TGAGAGGTTCAAGACTTCAGCGGAGGAAATAACTGAAGATGTGGTGAAAA TCGCAAGAGAACTACAATTAGAAGTGGAGCCTGAAGACGTGACTGAATTG CGACAAATTCATGATCAAACTTGAACAGATGAGGAGTTGCTTCTCATGAA TCAGCAGAGAAAGTGGTTTTTTTGAGGTGGAGTGTCTTCCTGGTGATGAT GACATGAGCATTGTGAAAATGACCACAAAGGATACAGAATATTACAAAAA CTTAGGTGATAAAGCAGCAGCAGTATCGGGAGGATTAACTCCAATTTTGA AAGCAGTTCAGAGGGTAAAATGTTATCAAACAGCATTGCATGCTAGAAAA ATCTTTTGTGAAAGGAAGAGTCCATCAATACAGCAATTTTATTGCTGTCT CAGCTTAAGAAATTGCCACAGCCACCCCAGCCTTCAGCAACCACCACCCT GATCAGTCAGCAGCCATCAACCTTGAGGCAAGACCCTCCACCAACAAAAA GATTACAAATTATTGAAGGTCAGATAATCTTTAGTATTTTCTTATCAATA AACCTTTTTTTAAAGTATGACTTTGTTTAGACATAATGCTATTTCACACT TAATAGACTACCGTATAGTATAAACACAACTTTTAGACTCACTGAGAAAT CAAAAAATTCATCTGACTCATTTGTTGTGATATGTGTTTTATTGTGGTGG TCTGGAACTGAACCTGCAATATATTTGAGGAATGTCTGTAACACGAAGTG GGCGGCTTAATACAACAGAAGTTTTTGGAGTTCCATTCTAGAGACTGGAA ATCCAAAATCAAGGTTTTGGGAGGGCCACGCTCCCTCTGAATCCTGTAGG GAAGGATCCTTCATTGCATCTTCCAGCTTCTGGAGCCACAGGCCTTCCTT GGCATGTGGCAGCAGAACTCCAATTTCTGTCTCTGTCCTCATATGGCCAT CTTCCCTCTGGGTCTGTGTCCTCATATGCTGTTCTCTCTGTGCATGTCTG TTTCCAAAGTTTTCCCTTTTAATAAGGACACCAGTCACACTGGATTAGGG CCTACCTTCATGACCTCACCTTAACTTGATTGCGTCTGCAAAGATCGTAT TTCCAAATAAGGTCACATCCACAGGGACTGGAGGTTAAGACTTCAGCATA CTCAGGGGAGACACAATTCAACCTATAACAGAGCCCCTTTGAAAATGTCA GGCATCAGGTGCTCACAGCACACGGTCCAGCTGTTGGTGCTCACCCTTGC TCAGCACACGGTGGAGGCTCTGCCTCAATCTCATTCTTCATGGGAACAGC TAAGCCAGGTAGCGAATACGAGTTACGTTTGTGTCACCACAGCAGACACT GAAAGGAAGTTTGTGGTGTCCAGCACATTTGCCAGCATAGGCCTCACAGA CCACAACACCTAGAATCTGACAAAAATTAGAATAAATCCGATGTCTCCTT TTCTCTCTTTTTTTAAGCATTTTTAAATACAATTGGTAAATTTCCTGACT GTACCCTACTCATCTTGCATTGCTGAATAAGTGAGGAACCTCTCTATGGC ATGAAGCAGAAAACCATTGAGCTTATGAGAAGAAACAGGAAATACATGTA AAAGAGACCAGTCTGAAAAATCAGGAGAAATTTTACAAAAGAGATTTACT GCCAAGAAACCAGGGAAACTTTCAGAACACTCTCCTTTTCATATTTGTAA CAAGATTCAATTGTACAAATACTTCTGTGAAACTAGCCATGAAGTGTGTA CATGAATGAATATATGTATTCAGTGTGTTTATATATTTCATTTCATACAT GTGATCTATATCATATATATATATATATATATATATATATATATCACAAT GAATATTGCAGAAAATTAAAGCAAAGAGTAAGAAGAGTTAACCAAATGTT CCCTGAATGCAGTGGGAAAAGATGAAAAGGAGAAGACAGGCAAGCACAGT GGCTCACACATGTAATCCCAACATATTGAGAGGCCGGGGCAAGAGGATCA CTTGAGCCCAGGAGCTCAAGACCAGCCTGGACAACATGGCAAAAACCCAT CTCTACAAAAAAGTATAAAAATTAGCTGGGCATGGCAGCATGTGACTGTA GTCACAGCTAGGCAGGAGAATGAAGTGGGAGGATCACCTGAGCCCAGGAG GCTGAGGCTTCAGTGAGCCTTGATGGCAACCCTGCACTCCAGCCTGGATG ACAGAATGAGACCCTGTCTCAAAAAAGGAAAAAGAGAAGACATATGTAAC ACAGTGTCAGGATTCAAAATACATGTAGCAAAAATTCCAGAAGGGTAAGC AAATAAGCCCATACCTAGCCATCACTAGGGAAACTTCTGTGTTTCAGGGA TAGAGAAAAAAACTCTGATTCCAGAAATAAAATGTGAAAATATAATACCC GCAAAAGAAATAAATTTATTGACACCACATTGATTCTATATTGTATAAGA TATATTGTATAACACTAAATTGTAGAAGATAGCACTTCTCTTGAGCCAAG CTAATATGCACACCTAGAGGCTCCAGGTACACATTAAAGGATAAGCAAAG ACACAAAAATTGTACCATTTAAGTATGTTTCCCAGGCAATTCATAAGCAA ATTTTTAAAAAGGAGAATGATGAATTCCAAAGGAAATCTCAATGAGATAG GATGTAGGTAAAAAGAAAAAACAACAATAAAAAAAACATACACACAAAAT CTTGGCAATGTAATAATAATTTATTAATAATCTCTCTAAACTCATAGAAT ATATCAATAAAACTAGAAAATGTGAGACAGCAAGAAAAGATAGGCTAGAC TTACATTACAGAAAAGATGAGTAGACTGACTATATAGAGTTTGACTCTAA AATTGAGAAAAGAGGTTTAAATATGTGTCACGTGTATATGTATAATATAC ATGCACACATATAAAATGAAATTCCTCACTGGAAAAAATATTAAGTTTAA TTTCCAAATTATTAGAATGACTAAAACAGTTGAATCTATCTGTTCCATAT AGTAATTGAGGGGGAAGGAAAAGGAATAGCAAGGAATCCATTTTTCTCTT CCACCAGAAATAAGCTCCCTCATGTTTGGGTCAGGTCACTTTATTCATTG CTTTCTCCACATCCTCATCATTAGGCATCATGAAATCAATGAAAAGGCAG TGAAAGAATGATGATGAAAGCTAATCAAATGTATCATTTACCTCAATACG TTTGGTTTAATCTTCTTGTTGAAAGACAAATTCTCCTAGACAGGATCAAA AGCAACATATCTTGTATTTATAAAAAACATGTCTCAAGTAAAATGACATA GTATTATACACACACACACACATACACACACACACACACATTAAGGGAAA ATGCAGACAAAAAATGGCAGAAATAATATTTAGAGAAAGATAGAATTTAA GAAAAAAAATTGTCAAACAGGTCTGCAAAATAATTGTTTTATTTTGGTGC CAGTTACAGTCCGCAATGAAGCGAAGATATTAAGAAGCAAAGTGGGCCAG GAGAAATTAGAGCAGAAATATCTCTTTCAATAGTGAGAGAATAGGAAAAA GAAGTAGAAAAGCTGGGAACAATAGGTAAAGTTTAGGCTAGGCCTTAGAC TTCTCCTGCATTGTAATCCCTCTGGTTTGCCACATATGCATGCTGTCAGG AAGTTGATGAGGTATGTACAGCACAATTTATTTTCCATTTTTTGCCTTTA GGCACCGACTCATTGGTCACTCATCTGCTGAATGTATCCTCTCGGGCAAT GCTGCCCATTGGAGCACGAAGCCGCCAATTTGTCAACGTGAGTTGAAATC TCTTTCCCCATTCACCCCACCGTTTAATCCTAGAGTTGTCCTCCTAGAAT TACAAAGAATGGATCTCATCCCTCTTGGAAATGGTATCCTTCTCATATTT GAAGAATCCAGTCATATCCTTAAAATGGCTCACAGCATTCCAAACTTCCA CCTTCAGCTAGAAATGCTTTTTTATTTTTTCTTATCTCAAGGTCTAATTT TTTTTAAACTAGTCTTTAGCTCACTTAAACAGTCCCCCAATTTCATCCTC TGTTGGGTGAACACCTCCCAGTTTAAAGAGCATTTTATTTAGTGAAGTCA ACAAATACAAAGTCAGTGAAAGAAACCCCATATCCTCTCTGCAAGCTCTT AGTATCACATCAGATATTCAAGCCATGCAGCTCTTTCTTCCTTCTTATTC TTTGTCTAAACAGGATCATGCCATCTTCCCTGTGAGTTGTTTGGAAGATG AGCTTTCTACATTTTGGGGAGCAAAGACGAATGAGCAATTGCAAGCTAAC AAGGAATATAAAATGTGTATAATCCTGGGTTTAGTGATGGTGTGAGGAAA TCAGCAATTTCAAACCCAGTTGGTGGGAGGATAAGTGGGAACAAACTTTG TAGAAGGCCAATAAACTGGCTGGGCACTGCCCTACGGTAGAGTAGGACAC AGTATTCAGTTCTTCCAAGATCAGACGAGATTGGGCGCATTTAGGGTGGT ATGGTTGTAGATCAGTATCCAGTTCTTTTTATTATTTCTGAATCTGTAAG TATCATGTTTATTATATGTAATATTGTATATTTGTACTTTGTCTTTGTTA GTTCTTCCAGAGCTTTTGTTCTTATTATTTAATAAAGATGTTATACTGAG CCACATGTGGTGACTCAAACGTGTAATCCCAGCACTTTGGGAGGCCTAGG TGAGCAGATGGCTTGAGTCCAGGAGTTTGAGACCAGCCTGTACAACATAC TGAAACGCTGTCTCTACAAAAATACAAAAACTATACGGGCATGGTGGCAC ATGCCTGTAGTCCCAACTACTCAGGAGACTGAGAGGTGGGAGGATTGCTT GAGCCAGAGAGGTCGAGGCTGCAATGAGCCATGATCGTGCCACTGCACTC CAGTCTGGGCAGCAGAGCAAGACCTTGTCTCAAAAAAAATGCTATGCTGT ATGCTTTATTATATTAATATCCAATAGAATAAAGACACATGCCTTCTATA TAGAGAGAACTAAATTAATAATGGTGAGATAACAGTTAAATTCTCATTTA GCAGGAGAAATAAAAACATAGACTATAGGCTAGGCACAGTGGCTCATACC TGTAATCCCAGCACATTAGGAGGCTGAGGTGGGCAGATCACTTGAGGTCA GTAGTTTGAGACCACCCTGGCCAACATAATGAAACCCCGCCTCTACTAAA AATACAAAAGTTAGCCGAGTTTGGTGGCGCATGCCTGAAATCCCAGCTAC TCAGGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGGAGGCAAGGGCTGC AGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGGAACAGAGTGAGG ATCTGTTAAAAAAAAAAAAAAAAAGTGGACTCTAATAATACATGGACACA TTTAGTGAAATAAACTTAACTGAGTAGAGCAGAACTTATAATATTTTAAA ACTGTAAGAACATGTCTGTACATTAGCAAATAGTAGATGAGAATAGTATT TTCAATATTTACTTCTGGTAATTTGGAATTAAAAAAAAAACTTTTGGGAA AATTTACAATAAAGTATGATTTTAACAAACCAGGCTAGGCGTGGTGGCTC ACGCTTATAATCCCAGCACTTTGAAAAGCAGAGGCATGCAGATTGCTTGA GGCCAGGAGTTCAAGACTAGCCTGCCCAACATGGCCAAACCCCATCTCTA CTAAAAATACAAAAATAAACCAGACATGGTAGTGCATGCCTGTGATCCCA GCTACTCGGGAAGTTGAGGTAGGAGGATTGCTTGACCTGGGAAGTGGAGG TTGCAGTGAGCCATGATCGTGCCACTACACTCCAGCCTGGGTGACAGAGC AAGACTCTGTCCCAAGGTTTTGTTTTGGTTAACTTGCTGTCCCTTTTTCC AGGAATTCCTTGTGGGCTACCCCCCACCATCGCCAATGGAGATTTCATTA GCACCAACAGAGAGAATTTTCACTATGGATCAGTGGTGACCTACCGCTGC AATCCTGGAAGCGGAGGGAGAAAGGTGTTTGAGCTTGTGGGTGAGCCCTC CATATACTGCACCAGCAATGACGATCAAGTGGGCATCTGGAGCGGCCCGG CCCCTCAGTGCATTATACCTAACAAATGCACGCCTCCAAATGTGGAAAAT GGAATATTGGTATCTGACAACAGAAGCTTATTTTCCTTAAATGAAGTTGT GGAGTTTAGGTGTCAGCCTGGCTTTGTCATGAAAGGACCCCGCCGTGTGA AGTGCCAGGCCCTGAACAAATGGGAGCCGGAGCTACCAAGCTGCTCCAGG GGTGAGTCTGACTGAGGCCTAGTAGGGCCCTGCAAGTGACATGCGTTGCT GTTGGATCAGGAGATTAGTATTTGTTCACGGGGAGGGATGTGTGCTGAGC AGGGTCGAGGAGCAAATTTTCTAAGTAGTGAACATGAAATTCAGGTGTGT AGACATGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.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 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0016 a0018 a0020 a0023 a0027 a0030 a0031 a0037 a0038 a0042 a0045 a0046 a0047 a0049 a0051 a0052 a0053 a0055	a0001c0001 a0001c0021 a0001c0037 others(36): Show a0001c0001 a0001c0021 a0001c0037 a0001c0051 a0002c0002 a0002c0043 a0003c0003 a0003c0018 a0003c0034 a0003c0046 a0004c0004 a0004c0070 a0005c0005 a0005c0040 a0006c0006 a0008c0011 a0008c0017 a0008c0045 a0009c0007 a0010c0009 a0016c0015 a0018c0014 a0020c0030 a0023c0062 a0023c0063 a0027c0058 a0030c0031 a0031c0033 a0037c0066 a0038c0065 a0042c0060 a0045c0044 a0046c0073 a0047c0071 a0049c0042 a0051c0069 a0052c0068 a0053c0074 a0055c0075	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0021t0002 a0001c0037t0002 a0001c0051t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0022 a0002c0043t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0011 a0003c0018t0003 a0003c0034t0003 a0003c0046t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0018 a0004c0070t0001 a0005c0005t0001 a0005c0005t0002 a0005c0040t0002 a0006c0006t0001 a0006c0006t0002 a0008c0011t0001 a0008c0011t0006 a0008c0017t0001 a0008c0017t0002 a0008c0045t0001 a0009c0007t0001 a0009c0007t0020 a0010c0009t0002 a0016c0015t0001 a0018c0014t0001 a0018c0014t0002 a0020c0030t0003 a0023c0062t0002 a0023c0063t0003 a0027c0058t0002 a0030c0031t0003 a0030c0031t0021 a0031c0033t0003 a0037c0066t0011 a0038c0065t0002 a0042c0060t0004 a0045c0044t0001 a0046c0073t0003 a0047c0071t0012 a0049c0042t0002 a0051c0069t0001 a0052c0068t0001 a0053c0074t0002 a0055c0075t0005	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(270): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0146 a0001c0001t0001g0246 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0336 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0278 a0001c0001t0002g0286 a0001c0001t0002g0301 a0001c0001t0002g0307 a0001c0001t0002g0315 a0001c0001t0002g0320 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0288 a0001c0001t0003g0302 a0001c0001t0004g0031 a0001c0001t0004g0158 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0285 a0001c0001t0007g0134 a0001c0001t0007g0139 a0001c0001t0008g0104 a0001c0001t0008g0176 a0001c0001t0008g0227 a0001c0001t0010g0339 a0001c0001t0010g0340 a0001c0001t0015g0249 a0001c0021t0002g0062 a0001c0021t0002g0063 a0001c0021t0002g0064 a0001c0037t0002g0094 a0001c0051t0002g0254 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0035 a0002c0002t0001g0114 a0002c0002t0001g0129 a0002c0002t0001g0163 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0184 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0211 a0002c0002t0001g0215 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0257 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0213 a0002c0002t0003g0206 a0002c0002t0022g0007 a0002c0043t0001g0100 a0003c0003t0001g0108 a0003c0003t0001g0342 a0003c0003t0002g0095 a0003c0003t0002g0111 a0003c0003t0002g0142 a0003c0003t0003g0003 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0106 a0003c0003t0003g0109 a0003c0003t0003g0110 a0003c0003t0003g0143 a0003c0003t0003g0151 a0003c0003t0003g0161 a0003c0003t0003g0179 a0003c0003t0003g0180 a0003c0003t0003g0260 a0003c0003t0003g0261 a0003c0003t0003g0262 a0003c0003t0003g0263 a0003c0003t0003g0274 a0003c0003t0003g0279 a0003c0003t0003g0280 a0003c0003t0003g0292 a0003c0003t0003g0341 a0003c0003t0003g0343 a0003c0003t0003g0345 a0003c0003t0003g0346 a0003c0003t0003g0354 a0003c0003t0011g0105 a0003c0018t0003g0005 a0003c0018t0003g0264 a0003c0018t0003g0265 a0003c0034t0003g0275 a0003c0046t0003g0266 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0112 a0004c0004t0001g0113 a0004c0004t0001g0121 a0004c0004t0001g0122 a0004c0004t0001g0123 a0004c0004t0001g0126 a0004c0004t0001g0127 a0004c0004t0001g0150 a0004c0004t0001g0160 a0004c0004t0001g0165 a0004c0004t0001g0169 a0004c0004t0001g0172 a0004c0004t0002g0002 a0004c0004t0002g0174 a0004c0004t0002g0175 a0004c0004t0002g0198 a0004c0004t0002g0199 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0220 a0004c0004t0002g0284 a0004c0004t0003g0116 a0004c0004t0003g0119 a0004c0004t0018g0120 a0004c0070t0001g0194 a0005c0005t0001g0293 a0005c0005t0001g0324 a0005c0005t0002g0140 a0005c0005t0002g0313 a0005c0005t0002g0314 a0005c0005t0002g0316 a0005c0005t0002g0322 a0005c0005t0002g0323 a0005c0005t0002g0325 a0005c0005t0002g0326 a0005c0005t0002g0327 a0005c0005t0002g0328 a0005c0005t0002g0329 a0005c0005t0002g0330 a0005c0005t0002g0331 a0005c0005t0002g0332 a0005c0005t0002g0333 a0005c0005t0002g0338 a0005c0005t0002g0350 a0005c0005t0002g0352 a0005c0005t0002g0353 a0005c0040t0002g0093 a0006c0006t0001g0001 a0006c0006t0001g0029 a0006c0006t0001g0082 a0006c0006t0001g0089 a0006c0006t0001g0107 a0006c0006t0001g0153 a0006c0006t0001g0154 a0006c0006t0001g0155 a0006c0006t0001g0156 a0006c0006t0001g0157 a0006c0006t0001g0185 a0006c0006t0001g0186 a0006c0006t0002g0081 a0008c0011t0001g0078 a0008c0011t0001g0080 a0008c0011t0006g0074 a0008c0011t0006g0075 a0008c0011t0006g0077 a0008c0011t0006g0087 a0008c0017t0001g0152 a0008c0017t0002g0344 a0008c0045t0001g0096 a0009c0007t0001g0200 a0009c0007t0001g0201 a0009c0007t0001g0202 a0009c0007t0001g0204 a0009c0007t0001g0214 a0009c0007t0001g0216 a0009c0007t0001g0217 a0009c0007t0001g0291 a0009c0007t0001g0357 a0009c0007t0020g0356 a0010c0009t0002g0258 a0010c0009t0002g0259 a0010c0009t0002g0269 a0010c0009t0002g0270 a0010c0009t0002g0272 a0010c0009t0002g0273 a0010c0009t0002g0303 a0010c0009t0002g0335 a0016c0015t0001g0183 a0016c0015t0001g0209 a0016c0015t0001g0210 a0016c0015t0001g0317 a0018c0014t0001g0117 a0018c0014t0001g0118 a0018c0014t0001g0124 a0018c0014t0002g0128 a0020c0030t0003g0244 a0020c0030t0003g0287 a0023c0062t0002g0351 a0023c0063t0003g0355 a0027c0058t0002g0076 a0030c0031t0003g0197 a0030c0031t0021g0115 a0031c0033t0003g0308 a0037c0066t0011g0144 a0038c0065t0002g0231 a0042c0060t0004g0182 a0045c0044t0001g0103 a0046c0073t0003g0195 a0047c0071t0012g0271 a0049c0042t0002g0281 a0051c0069t0001g0173 a0052c0068t0001g0125 a0053c0074t0002g0036 a0055c0075t0005g0025	276	360	0.7667	-18557	c.223 others(19): Show c.2237-1030_3587-1030del		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	14/47				INFO_REALIGN_3_PRIME	chr1	TogoVar
CRLF2_chrX_1185490_1217649	1212615	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0024 a0024	a0024c0019 a0024c0019	a0024c0019t0002 a0024c0019t0002	a0024c0019t0002g0003 a0024c0019t0002g0003	1	167	0.0060	1	c.19d others(3): Show c.19dupC	p.Leu others(3): Show p.Leu7fs	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/8	34/1538	19/1116	7/371		chrX	TogoVar
CSNKA2IP_chr3_88333456_88472594	88467516	G G	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(240): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 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 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(8): Show a0001 a0005 a0007 a0008 a0010 a0011 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0004 a0001c0012 others(11): Show a0001c0001 a0001c0004 a0001c0012 a0001c0017 a0005c0007 a0007c0010 a0008c0009 a0010c0014 a0011c0013 a0017c0020 a0018c0022 a0019c0019 a0020c0018 a0021c0021	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0012t0001 a0001c0017t0001 a0005c0007t0002 a0007c0010t0002 a0008c0009t0001 a0008c0009t0002 a0010c0014t0001 a0011c0013t0002 a0017c0020t0001 a0018c0022t0001 a0019c0019t0001 a0020c0018t0002 a0021c0021t0002	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0049 others(237): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0001 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0374 a0001c0001t0002g0376 a0001c0001t0002g0382 a0001c0004t0001g0061 a0001c0004t0001g0090 a0001c0004t0001g0104 a0001c0004t0001g0110 a0001c0004t0001g0201 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0229 a0001c0004t0001g0230 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0001g0236 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0002g0263 a0001c0004t0002g0280 a0001c0004t0002g0281 a0001c0004t0002g0314 a0001c0004t0002g0326 a0001c0004t0002g0327 a0001c0004t0002g0329 a0001c0004t0002g0332 a0001c0004t0002g0347 a0001c0004t0002g0349 a0001c0004t0002g0380 a0001c0004t0002g0381 a0001c0012t0001g0037 a0001c0012t0001g0038 a0001c0017t0001g0226 a0005c0007t0002g0288 a0005c0007t0002g0306 a0005c0007t0002g0320 a0005c0007t0002g0322 a0005c0007t0002g0324 a0005c0007t0002g0325 a0005c0007t0002g0335 a0007c0010t0002g0296 a0007c0010t0002g0297 a0007c0010t0002g0300 a0008c0009t0001g0011 a0008c0009t0001g0012 a0008c0009t0002g0275 a0010c0014t0001g0121 a0010c0014t0001g0122 a0011c0013t0002g0279 a0011c0013t0002g0334 a0017c0020t0001g0196 a0018c0022t0001g0212 a0019c0019t0001g0235 a0020c0018t0002g0344 a0021c0021t0002g0292	243	386	0.6295	0	c.215 others(4): Show c.2159G>A	p.Trp others(4): Show p.Trp720*	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	2/2	2617/2695	2159/2205	720/734		chr3	TogoVar
CT47C1_chrX_119067993_119081765	119073581	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0002 a0011c0018t0002g0002	1	310	0.0032	1	c.360 others(4): Show c.360dupC	p.Ile others(5): Show p.Ile121fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	594/1772	361/975	121/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585316	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0016 a0010c0009t0001g0016	1	293	0.0034	1	c.113 others(4): Show c.113dupG	p.Ala others(4): Show p.Ala39fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	188/769	114/543	38/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83873280	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0174 a0007c0008t0001g0174	1	208	0.0048	1	c.573 others(4): Show c.573dupC	p.Ser others(5): Show p.Ser192fs	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/5	611/2107	574/1956	192/651	INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83874358	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0174 a0007c0008t0001g0174	1	208	0.0048	1	c.165 others(5): Show c.1653dupA	p.Pro others(5): Show p.Pro552fs	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/5	1691/2107	1654/1956	552/651	INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83874556	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0174 a0007c0008t0001g0174	1	208	0.0048	-1	c.185 others(5): Show c.1850delC	p.Pro others(5): Show p.Pro617fs	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/5	1887/2107	1850/1956	617/651	INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 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 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 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 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 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 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.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 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.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 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.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 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0008 a0008c0010 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0013c0015 a0014c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0005t0042 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0022 a0002c0002t0031 a0003c0003t0034 a0003c0003t0045 a0003c0003t0046 a0004c0004t0009 a0005c0006t0041 a0006c0007t0061 a0006c0007t0062 a0007c0008t0012 a0007c0008t0023 a0008c0010t0012 a0009c0011t0023 a0010c0012t0060 a0011c0013t0001 a0012c0014t0033 a0013c0015t0001 a0014c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(317): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0213 a0001c0001t0003g0219 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0059 a0001c0001t0004g0116 a0001c0001t0004g0167 a0001c0001t0004g0206 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0236 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0037 a0001c0001t0005g0054 a0001c0001t0005g0171 a0001c0001t0005g0210 a0001c0001t0005g0215 a0001c0001t0005g0229 a0001c0001t0005g0238 a0001c0001t0006g0002 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0139 a0001c0001t0006g0148 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0192 a0001c0001t0007g0002 a0001c0001t0007g0008 a0001c0001t0007g0015 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0007g0071 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0103 a0001c0001t0007g0120 a0001c0001t0007g0158 a0001c0001t0007g0204 a0001c0001t0007g0209 a0001c0001t0008g0001 a0001c0001t0008g0023 a0001c0001t0008g0038 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0214 a0001c0001t0008g0223 a0001c0001t0008g0228 a0001c0001t0008g0232 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0009g0001 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0207 a0001c0001t0009g0216 a0001c0001t0009g0222 a0001c0001t0011g0007 a0001c0001t0011g0075 a0001c0001t0011g0180 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0012g0001 a0001c0001t0012g0019 a0001c0001t0012g0023 a0001c0001t0012g0036 a0001c0001t0012g0051 a0001c0001t0012g0053 a0001c0001t0013g0009 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0090 a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0013g0095 a0001c0001t0014g0046 a0001c0001t0014g0074 a0001c0001t0014g0080 a0001c0001t0014g0176 a0001c0001t0014g0179 a0001c0001t0014g0185 a0001c0001t0014g0189 a0001c0001t0014g0237 a0001c0001t0016g0002 a0001c0001t0016g0004 a0001c0001t0016g0008 a0001c0001t0016g0030 a0001c0001t0016g0172 a0001c0001t0016g0184 a0001c0001t0016g0191 a0001c0001t0019g0081 a0001c0001t0020g0004 a0001c0001t0020g0045 a0001c0001t0020g0047 a0001c0001t0020g0048 a0001c0001t0020g0174 a0001c0001t0020g0182 a0001c0001t0023g0220 a0001c0001t0023g0221 a0001c0001t0023g0230 a0001c0001t0024g0023 a0001c0001t0024g0054 a0001c0001t0024g0076 a0001c0001t0024g0208 a0001c0001t0024g0211 a0001c0001t0025g0006 a0001c0001t0025g0135 a0001c0001t0025g0137 a0001c0001t0025g0145 a0001c0001t0025g0151 a0001c0001t0026g0193 a0001c0001t0028g0005 a0001c0001t0028g0084 a0001c0001t0028g0089 a0001c0001t0028g0094 a0001c0001t0029g0005 a0001c0001t0029g0091 a0001c0001t0030g0006 a0001c0001t0030g0013 a0001c0001t0030g0150 a0001c0001t0030g0169 a0001c0001t0033g0060 a0001c0001t0035g0098 a0001c0001t0035g0099 a0001c0001t0037g0085 a0001c0001t0037g0096 a0001c0001t0038g0005 a0001c0001t0038g0009 a0001c0001t0043g0248 a0001c0001t0043g0250 a0001c0001t0044g0003 a0001c0001t0047g0241 a0001c0001t0048g0056 a0001c0001t0049g0056 a0001c0001t0050g0001 a0001c0001t0051g0212 a0001c0001t0052g0097 a0001c0001t0053g0086 a0001c0001t0054g0072 a0001c0001t0056g0049 a0001c0001t0057g0166 a0001c0001t0058g0058 a0001c0001t0059g0058 a0001c0001t0063g0246 a0001c0001t0064g0083 a0001c0001t0065g0251 a0001c0001t0066g0249 a0001c0001t0067g0247 a0001c0005t0042g0194 a0001c0005t0042g0195 a0002c0002t0010g0064 a0002c0002t0010g0065 a0002c0002t0010g0066 a0002c0002t0010g0276 a0002c0002t0010g0278 a0002c0002t0010g0280 a0002c0002t0010g0281 a0002c0002t0010g0290 a0002c0002t0010g0292 a0002c0002t0010g0293 a0002c0002t0010g0294 a0002c0002t0015g0027 a0002c0002t0015g0277 a0002c0002t0015g0285 a0002c0002t0015g0286 a0002c0002t0015g0287 a0002c0002t0015g0289 a0002c0002t0015g0296 a0002c0002t0017g0033 a0002c0002t0017g0034 a0002c0002t0017g0035 a0002c0002t0017g0114 a0002c0002t0022g0065 a0002c0002t0022g0282 a0002c0002t0022g0283 a0002c0002t0022g0284 a0002c0002t0022g0295 a0002c0002t0031g0027 a0002c0002t0031g0288 a0002c0002t0031g0291 a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0045g0200 a0003c0003t0046g0201 a0004c0004t0009g0063 a0004c0004t0009g0279 a0005c0006t0041g0031 a0006c0007t0061g0197 a0006c0007t0062g0196 a0007c0008t0012g0001 a0007c0008t0023g0224 a0008c0010t0012g0001 a0009c0011t0023g0205 a0010c0012t0060g0243 a0011c0013t0001g0002 a0012c0014t0033g0245 a0013c0015t0001g0102 a0014c0009t0001g0124	412	448	0.9196	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP21A2_chr6_32033415_32046644	32039385	GGCCATTG others(4): Show GGCCATTGAGGA	G G	frameshift_variant frameshift_variant	HIGH	NA19058.hp2 NA19058.hp2	a0030 a0030	a0030c0035 a0030c0035	a0030c0035t0001 a0030c0035t0001	a0030c0035t0001g0001 a0030c0035t0001g0001	1	459	0.0022	-11	c.479 others(18): Show c.479_489delCCATTGAGGAG	p.Ala others(5): Show p.Ala160fs	CYP21A2	ENSG00000231852.9	transcript	ENST00000644719.2	protein_coding	4/10	487/2006	479/1488	160/495	INFO_REALIGN_3_PRIME	chr6	TogoVar
CYP21A2_chr6_32033415_32046644	32040182	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00738.hp1 HG03688.hp1 others(6): Show HG00544.hp1 HG00738.hp1 HG03688.hp1 NA18978.hp1 NA18981.hp1 NA18987.hp2 NA19058.hp2 NA19062.hp1 NA19067.hp1	a0011 a0017 a0027 others(2): Show a0011 a0017 a0027 a0028 a0030	a0011c0023 a0011c0024 a0017c0052 others(4): Show a0011c0023 a0011c0024 a0017c0052 a0017c0053 a0027c0056 a0028c0042 a0030c0035	a0011c0023t0001 a0011c0024t0001 a0017c0052t0002 others(4): Show a0011c0023t0001 a0011c0024t0001 a0017c0052t0002 a0017c0053t0001 a0027c0056t0001 a0028c0042t0001 a0030c0035t0001	a0011c0023t0001g0011 a0011c0023t0001g0016 a0011c0024t0001g0001 others(5): Show a0011c0023t0001g0011 a0011c0023t0001g0016 a0011c0024t0001g0001 a0017c0052t0002g0023 a0017c0053t0001g0022 a0027c0056t0001g0017 a0028c0042t0001g0056 a0030c0035t0001g0001	9	459	0.0196	1	c.923 others(4): Show c.923dupT	p.Leu others(5): Show p.Leu308fs	CYP21A2	ENSG00000231852.9	transcript	ENST00000644719.2	protein_coding	7/10	932/2006	924/1488	308/495	INFO_REALIGN_3_PRIME	chr6	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0005c0006 a0006c0013 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0003t0001 a0001c0003t0011 a0001c0003t0023 a0001c0003t0034 a0001c0012t0007 a0005c0006t0001 a0006c0013t0003 a0007c0011t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(28): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0017g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0026g0000 a0001c0001t0028g0000 a0001c0001t0029g0000 a0001c0001t0030g0000 a0001c0001t0031g0000 a0001c0001t0032g0000 a0001c0001t0033g0000 a0001c0003t0001g0000 a0001c0003t0011g0000 a0001c0003t0023g0000 a0001c0003t0034g0000 a0001c0012t0007g0000 a0005c0006t0001g0000 a0006c0013t0003g0000 a0007c0011t0001g0000	268	456	0.5877	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244		chr5	TogoVar
DEFB126_chr20_137590_150751	145514	GCAAA GCAAA	G G	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00642.hp2 HG00673.hp1 others(59): Show HG00323.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18906.hp2 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19006.hp2 NA19043.hp2 NA19058.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0009 a0002c0003 a0002c0006 a0002c0009	a0002c0003t0001 a0002c0006t0001 a0002c0009t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 others(5): Show a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	62	460	0.1348	-4	c.163 others(11): Show c.163_166delCAAA	p.Gln others(4): Show p.Gln55fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	202/434	163/336	55/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0002 a0000c0004 a0002c0003 others(2): Show a0000c0002 a0000c0004 a0002c0003 a0002c0006 a0002c0009	a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 others(2): Show a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 others(16): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 a0000c0002t0001g0004 a0000c0002t0001g0006 a0000c0002t0001g0008 a0000c0002t0001g0010 a0000c0002t0001g0013 a0000c0002t0001g0014 a0000c0004t0001g0005 a0000c0004t0001g0019 a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	233	460	0.5065	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DFFA_chr1_10451522_10477529	10472433	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(5): Show a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(57): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0002t0036 a0002c0002t0042 a0002c0002t0048 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0064 a0002c0002t0066 a0002c0002t0074 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0086 a0002c0002t0087 a0002c0002t0090 a0002c0002t0095 a0002c0002t0100 a0002c0002t0106 a0002c0002t0107 a0002c0002t0110 a0002c0002t0111 a0002c0004t0009 a0002c0004t0022 a0002c0004t0023 a0002c0004t0034 a0002c0004t0041 a0002c0004t0069 a0002c0004t0103 a0002c0006t0008 a0002c0006t0037 a0002c0007t0016 a0002c0008t0020 a0002c0008t0061 a0002c0011t0032 a0002c0012t0001 a0002c0013t0006	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0019 a0002c0002t0002g0031 a0002c0002t0002g0060 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0130 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0004g0007 a0002c0002t0004g0020 a0002c0002t0005g0027 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0068 a0002c0002t0006g0110 a0002c0002t0006g0113 a0002c0002t0006g0121 a0002c0002t0007g0145 a0002c0002t0009g0057 a0002c0002t0010g0029 a0002c0002t0010g0128 a0002c0002t0011g0017 a0002c0002t0012g0030 a0002c0002t0012g0105 a0002c0002t0013g0075 a0002c0002t0013g0077 a0002c0002t0013g0132 a0002c0002t0014g0119 a0002c0002t0015g0074 a0002c0002t0015g0097 a0002c0002t0018g0071 a0002c0002t0018g0073 a0002c0002t0019g0032 a0002c0002t0024g0120 a0002c0002t0025g0086 a0002c0002t0026g0028 a0002c0002t0029g0100 a0002c0002t0030g0050 a0002c0002t0030g0152 a0002c0002t0033g0135 a0002c0002t0036g0083 a0002c0002t0042g0066 a0002c0002t0048g0131 a0002c0002t0057g0117 a0002c0002t0058g0127 a0002c0002t0060g0118 a0002c0002t0064g0092 a0002c0002t0066g0142 a0002c0002t0074g0098 a0002c0002t0076g0149 a0002c0002t0078g0151 a0002c0002t0079g0148 a0002c0002t0080g0112 a0002c0002t0081g0125 a0002c0002t0086g0099 a0002c0002t0087g0072 a0002c0002t0090g0059 a0002c0002t0095g0144 a0002c0002t0100g0069 a0002c0002t0106g0147 a0002c0002t0107g0133 a0002c0002t0110g0090 a0002c0002t0111g0084 a0002c0004t0009g0025 a0002c0004t0022g0052 a0002c0004t0023g0054 a0002c0004t0034g0055 a0002c0004t0041g0053 a0002c0004t0069g0051 a0002c0004t0103g0056 a0002c0006t0008g0026 a0002c0006t0037g0058 a0002c0007t0016g0018 a0002c0008t0020g0153 a0002c0008t0020g0154 a0002c0008t0061g0049 a0002c0011t0032g0067 a0002c0012t0001g0109 a0002c0013t0006g0116	195	438	0.4452	1	c.25d others(3): Show c.25dupG	p.Val others(3): Show p.Val9fs	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	1/6	96/6035	25/996	9/331		chr1	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(77): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02976.hp1 HG03486.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0002c0005 a0006c0017 a0007c0019 a0011c0028 a0012c0030	a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 others(31): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0023 a0001c0002t0075 a0001c0002t0095 a0001c0002t0096 a0001c0002t0101 a0001c0003t0006 a0001c0003t0013 a0001c0003t0059 a0001c0003t0105 a0001c0003t0123 a0001c0004t0047 a0001c0004t0055 a0001c0006t0001 a0001c0006t0004 a0001c0006t0017 a0001c0006t0036 a0001c0013t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0002c0005t0104 a0006c0017t0041 a0007c0019t0047 a0011c0028t0001 a0012c0030t0019	a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 others(77): Show a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0184 a0001c0002t0001g0191 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0004g0169 a0001c0002t0005g0228 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0019g0126 a0001c0002t0019g0171 a0001c0002t0021g0098 a0001c0002t0021g0125 a0001c0002t0023g0120 a0001c0002t0075g0176 a0001c0002t0095g0060 a0001c0002t0096g0306 a0001c0002t0101g0183 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0013g0015 a0001c0003t0059g0311 a0001c0003t0105g0132 a0001c0003t0123g0238 a0001c0004t0047g0097 a0001c0004t0055g0185 a0001c0006t0001g0109 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0110 a0001c0006t0017g0111 a0001c0006t0017g0112 a0001c0006t0017g0285 a0001c0006t0017g0309 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0013t0001g0231 a0002c0005t0001g0053 a0002c0005t0001g0104 a0002c0005t0001g0105 a0002c0005t0001g0113 a0002c0005t0001g0114 a0002c0005t0001g0117 a0002c0005t0001g0137 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0118 a0002c0005t0007g0045 a0002c0005t0007g0123 a0002c0005t0007g0128 a0002c0005t0007g0134 a0002c0005t0007g0136 a0002c0005t0008g0290 a0002c0005t0037g0292 a0002c0005t0104g0237 a0006c0017t0041g0122 a0007c0019t0047g0100 a0011c0028t0001g0054 a0012c0030t0019g0088	80	316	0.2532	11	c.623 others(23): Show c.623-13_623-3dupTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	385	0.2883	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DICER1_chr14_95081228_95162529	95124663	TAGTATCT others(18): Show TAGTATCTACAAAAAAAAGAAAAGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19058.hp2 NA19058.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0002 a0008c0018t0002	a0008c0018t0002g0204 a0008c0018t0002g0204	1	306	0.0033	-25	c.904 others(35): Show c.904-20_908delTTCTTTTCTTTTTTTTGTAGATACT	p.Leu others(5): Show p.Leu303fs	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	8/27	1253/10384	904/5769	302/1922		chr14	TogoVar
DLG3_chrX_70439835_70510490	70445327	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0246 a0002c0003t0001g0246	1	278	0.0036	-1	c.131 others(4): Show c.131delG	p.Gly others(4): Show p.Gly44fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	498/6042	131/2454	44/817	INFO_REALIGN_3_PRIME	chrX	TogoVar
DLG3_chrX_70439835_70510490	70445354	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0246 a0002c0003t0001g0246	1	278	0.0036	-1	c.158 others(4): Show c.158delG	p.Gly others(4): Show p.Gly53fs	DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	1/19	525/6042	158/2454	53/817	INFO_REALIGN_3_PRIME	chrX	TogoVar

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