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
A4GNT_chr3_138118713_138137390	138124264	T T	C C	stop_retained_variant stop_retained_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(240): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18991.hp1 NA18994.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0001c0012 a0004c0007 a0005c0008 a0007c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0009t0001 a0001c0012t0005 a0004c0007t0001 a0005c0008t0004 a0007c0011t0003	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(160): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0035 a0001c0001t0004g0112 a0001c0001t0004g0115 a0001c0001t0004g0128 a0001c0001t0004g0140 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0182 a0001c0001t0011g0141 a0001c0003t0001g0197 a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0014 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0049 a0001c0003t0003g0052 a0001c0003t0003g0054 a0001c0003t0003g0057 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0068 a0001c0003t0005g0016 a0001c0003t0005g0040 a0001c0003t0005g0044 a0001c0003t0005g0059 a0001c0003t0009g0069 a0001c0003t0010g0056 a0001c0009t0001g0196 a0001c0012t0005g0058 a0004c0007t0001g0075 a0004c0007t0001g0076 a0005c0008t0004g0028 a0007c0011t0003g0043	243	398	0.6106	0	c.102 others(4): Show c.1023A>G	p.Ter others(6): Show p.Ter341Ter	A4GNT	ENSG00000118017.4	transcript	ENST00000236709.4	protein_coding	3/3	1228/1779	1023/1023	341/340		chr3	TogoVar
ABCF1_chr6_30566442_30596522	30590700	G G	GA GA	stop_retained_variant stop_retained_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(289): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.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 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.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 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0003c0004 a0004c0006 others(6): Show a0001c0001 a0003c0004 a0004c0006 a0006c0014 a0007c0011 a0008c0009 a0009c0010 a0010c0012 a0011c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0003c0004t0001 a0004c0006t0001 a0006c0014t0001 a0007c0011t0001 a0008c0009t0001 a0009c0010t0001 a0010c0012t0001 a0011c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(181): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0003g0007 a0001c0001t0003g0097 a0001c0001t0004g0124 a0001c0001t0005g0096 a0003c0004t0001g0051 a0003c0004t0001g0204 a0004c0006t0001g0049 a0006c0014t0001g0014 a0007c0011t0001g0114 a0008c0009t0001g0139 a0009c0010t0001g0119 a0010c0012t0001g0225 a0011c0008t0001g0050	292	415	0.7036	1	c.253 others(5): Show c.2538dupA		ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	25/25				INFO_REALIGN_3_PRIME	chr6	TogoVar
ACOT13_chr6_24662077_24710046	24701614	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0189 a0001c0004t0001g0189	1	402	0.0025	0	c.422 others(3): Show c.422G>A	p.Ter others(6): Show p.Ter141Ter	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding	3/3	609/4041	422/423	141/140		chr6	TogoVar
ACTG1_chr17_81504971_81517799	81510690	T T	C C	stop_retained_variant stop_retained_variant	LOW	HG00544.hp2 HG02040.hp2 HG02258.hp1 others(12): Show HG00544.hp2 HG02040.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp2 HG03942.hp2 NA18969.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0005 a0001c0005t0022 a0001c0006t0004 a0001c0005t0005 a0001c0005t0022 a0001c0006t0004	a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 others(2): Show a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 a0001c0006t0004g0010 a0001c0006t0004g0018	15	370	0.0405	0	c.112 others(4): Show c.1128A>G	p.Ter others(6): Show p.Ter376Ter	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	1200/1919	1128/1128	376/375		chr17	TogoVar
B3GNT2_chr2_62191115_62229731	62223414	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0135 a0001c0009t0004g0135	1	406	0.0025	0	c.119 others(4): Show c.1194A>G	p.Ter others(6): Show p.Ter398Ter	B3GNT2	ENSG00000170340.11	transcript	ENST00000301998.5	protein_coding	2/2	1444/2761	1194/1194	398/397		chr2	TogoVar
BLVRA_chr7_43753680_43812342	43807235	A A	G G	stop_retained_variant stop_retained_variant	LOW	NA18940.hp2 NA19075.hp1 NA18940.hp2 NA19075.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0089 a0001c0008t0001g0147 a0001c0008t0001g0089 a0001c0008t0001g0147	2	414	0.0048	0	c.891 others(3): Show c.891A>G	p.Ter others(6): Show p.Ter297Ter	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding	8/8	967/1074	891/891	297/296		chr7	TogoVar
CABS1_chr4_70329981_70342116	70336226	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG00280.hp1 HG00323.hp2 HG00544.hp2 others(87): Show HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG02004.hp2 HG02055.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18945.hp2 NA18948.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19063.hp1 NA19070.hp1 NA19077.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0005c0006 a0006c0008 a0001c0002 a0005c0006 a0006c0008	a0001c0002t0001 a0005c0006t0001 a0006c0008t0001 a0001c0002t0001 a0005c0006t0001 a0006c0008t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0006 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0006 a0005c0006t0001g0002 a0006c0008t0001g0002	90	446	0.2018	0	c.118 others(4): Show c.1187A>G	p.Ter others(6): Show p.Ter396Ter	CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding	1/2	1246/1517	1187/1188	396/395		chr4	TogoVar
CASP14_chr19_15044480_15063293	15056089	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0004 a0001c0009t0006g0004	1	428	0.0023	0	c.729 others(3): Show c.729G>A	p.Ter others(6): Show p.Ter243Ter	CASP14	ENSG00000105141.6	transcript	ENST00000427043.4	protein_coding	7/7	941/3145	729/729	243/242		chr19	TogoVar
CCR1_chr3_46196711_46213313	46203247	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG02280.hp2 HG02486.hp2 HG03486.hp1 others(1): Show HG02280.hp2 HG02486.hp2 HG03486.hp1 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0012 a0002c0003t0011 a0002c0003t0012	a0002c0003t0011g0023 a0002c0003t0011g0062 a0002c0003t0012g0061 a0002c0003t0011g0023 a0002c0003t0011g0062 a0002c0003t0012g0061	4	360	0.0111	0	c.106 others(4): Show c.1067G>A	p.Ter others(6): Show p.Ter356Ter	CCR1	ENSG00000163823.4	transcript	ENST00000296140.4	protein_coding	2/2	1110/2646	1067/1068	356/355		chr3	TogoVar
CD8B_chr2_86833167_86866886	86842308	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(279): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003 a0002c0008 a0002c0010 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0004t0001 a0001c0004t0004 a0001c0004t0006 a0001c0004t0033 a0001c0004t0035 a0001c0004t0038 a0001c0004t0041 a0001c0006t0007 a0002c0003t0003 a0002c0003t0027 a0002c0003t0028 a0002c0003t0029 a0002c0003t0030 a0002c0003t0031 a0002c0003t0032 a0002c0008t0003 a0002c0010t0003 a0004c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(188): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0035 a0001c0001t0004g0051 a0001c0001t0004g0056 a0001c0001t0004g0061 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0106 a0001c0001t0004g0110 a0001c0001t0004g0129 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0005g0018 a0001c0001t0005g0025 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0050 a0001c0001t0005g0071 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0083 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0006g0026 a0001c0001t0006g0076 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0142 a0001c0001t0006g0152 a0001c0001t0014g0089 a0001c0001t0014g0127 a0001c0001t0014g0145 a0001c0001t0017g0125 a0001c0001t0017g0128 a0001c0001t0018g0099 a0001c0001t0018g0113 a0001c0001t0034g0130 a0001c0001t0036g0085 a0001c0001t0037g0104 a0001c0001t0039g0105 a0001c0001t0040g0150 a0001c0001t0042g0146 a0001c0001t0043g0082 a0001c0001t0044g0107 a0001c0001t0045g0149 a0001c0001t0046g0151 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0166 a0001c0004t0001g0171 a0001c0004t0001g0185 a0001c0004t0001g0186 a0001c0004t0001g0212 a0001c0004t0001g0228 a0001c0004t0004g0213 a0001c0004t0004g0216 a0001c0004t0006g0164 a0001c0004t0006g0245 a0001c0004t0033g0178 a0001c0004t0035g0229 a0001c0004t0038g0215 a0001c0004t0041g0214 a0001c0006t0007g0007 a0001c0006t0007g0240 a0001c0006t0007g0241 a0002c0003t0003g0002 a0002c0003t0003g0010 a0002c0003t0003g0015 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0003t0003g0182 a0002c0003t0003g0183 a0002c0003t0003g0189 a0002c0003t0003g0190 a0002c0003t0003g0191 a0002c0003t0003g0192 a0002c0003t0003g0193 a0002c0003t0003g0194 a0002c0003t0003g0196 a0002c0003t0003g0197 a0002c0003t0003g0198 a0002c0003t0003g0199 a0002c0003t0003g0200 a0002c0003t0003g0201 a0002c0003t0003g0202 a0002c0003t0003g0203 a0002c0003t0003g0204 a0002c0003t0003g0205 a0002c0003t0003g0207 a0002c0003t0003g0209 a0002c0003t0003g0210 a0002c0003t0003g0211 a0002c0003t0003g0233 a0002c0003t0003g0234 a0002c0003t0003g0235 a0002c0003t0003g0236 a0002c0003t0027g0238 a0002c0003t0028g0206 a0002c0003t0029g0208 a0002c0003t0030g0169 a0002c0003t0031g0237 a0002c0003t0032g0195 a0002c0008t0003g0017 a0002c0008t0003g0067 a0002c0008t0003g0068 a0002c0010t0003g0053 a0002c0010t0003g0088 a0004c0009t0001g0034 a0004c0009t0001g0138 a0004c0009t0001g0139	282	392	0.7194	0	c.632 others(3): Show c.632G>A	p.Ter others(6): Show p.Ter211Ter	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding	6/6	653/4794	632/633	211/210		chr2	TogoVar
CEACAM16_chr19_44694151_44715718	44710506	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG01192.hp1 HG01346.hp2 HG01192.hp1 HG01346.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0053 a0001c0006t0001g0053	2	450	0.0044	0	c.127 others(4): Show c.1278A>G	p.Ter others(6): Show p.Ter426Ter	CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	7/7	1484/1696	1278/1278	426/425		chr19	TogoVar
COG2_chr1_230637481_230698982	230693393	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(157): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0002 a0001c0012 a0001c0018 others(5): Show a0001c0002 a0001c0012 a0001c0018 a0001c0020 a0002c0023 a0003c0008 a0004c0007 a0008c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0012t0001 a0001c0018t0001 a0001c0020t0004 a0002c0023t0003 a0003c0008t0001 a0003c0008t0003 a0004c0007t0003 a0008c0011t0003	a0001c0002t0001g0001 a0001c0002t0001g0028 a0001c0002t0001g0031 others(115): Show a0001c0002t0001g0001 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0229 a0001c0002t0001g0281 a0001c0002t0002g0155 a0001c0002t0002g0168 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0002t0002g0194 a0001c0002t0002g0202 a0001c0002t0002g0212 a0001c0002t0003g0003 a0001c0002t0003g0007 a0001c0002t0003g0021 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0033 a0001c0002t0003g0045 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0064 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0122 a0001c0002t0003g0125 a0001c0002t0003g0130 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0217 a0001c0002t0003g0220 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0234 a0001c0002t0003g0237 a0001c0002t0003g0240 a0001c0002t0003g0277 a0001c0002t0004g0002 a0001c0002t0004g0006 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0021 a0001c0002t0004g0040 a0001c0002t0004g0123 a0001c0002t0004g0126 a0001c0002t0004g0128 a0001c0002t0004g0144 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0151 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0166 a0001c0002t0004g0167 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0004g0242 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0280 a0001c0012t0001g0090 a0001c0018t0001g0065 a0001c0020t0004g0203 a0002c0023t0003g0111 a0003c0008t0001g0266 a0003c0008t0003g0050 a0004c0007t0003g0251 a0004c0007t0003g0256 a0004c0007t0003g0264 a0004c0007t0003g0265 a0004c0007t0003g0268 a0008c0011t0003g0089	160	406	0.3941	0	c.221 others(4): Show c.2217A>G	p.Ter others(6): Show p.Ter739Ter	COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	18/18	2343/2932	2217/2217	739/738		chr1	TogoVar
CRADD_chr12_93672375_93855756	93850270	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0200 a0003c0004t0004g0200	1	248	0.0040	0	c.599 others(3): Show c.599G>A	p.Ter others(6): Show p.Ter200Ter	CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding	3/3	703/1189	599/600	200/199		chr12	TogoVar
CTXND1_chr15_80190481_80257213	80201771	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG00408.hp1 HG00639.hp1 HG00642.hp1 others(95): Show HG00408.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp2 HG01516.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18947.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18973.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 others(10): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 a0001c0002t0026 a0001c0002t0030 a0001c0002t0034 a0001c0002t0049 a0001c0002t0054 a0001c0002t0065 a0001c0002t0067 a0001c0002t0069 a0001c0002t0070 a0001c0002t0081	a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0013 others(90): Show a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0013 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0281 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0329 a0001c0002t0003g0331 a0001c0002t0003g0338 a0001c0002t0003g0339 a0001c0002t0003g0346 a0001c0002t0003g0354 a0001c0002t0003g0367 a0001c0002t0003g0374 a0001c0002t0004g0024 a0001c0002t0004g0039 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0066 a0001c0002t0004g0082 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0004g0094 a0001c0002t0004g0111 a0001c0002t0004g0119 a0001c0002t0004g0130 a0001c0002t0004g0139 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0149 a0001c0002t0004g0155 a0001c0002t0004g0161 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0004g0166 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0002t0004g0177 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0193 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0221 a0001c0002t0014g0361 a0001c0002t0014g0363 a0001c0002t0014g0364 a0001c0002t0014g0365 a0001c0002t0014g0366 a0001c0002t0026g0251 a0001c0002t0026g0252 a0001c0002t0030g0245 a0001c0002t0030g0246 a0001c0002t0034g0148 a0001c0002t0049g0021 a0001c0002t0054g0121 a0001c0002t0065g0273 a0001c0002t0067g0357 a0001c0002t0069g0332 a0001c0002t0070g0280 a0001c0002t0081g0360	98	396	0.2475	0	c.179 others(3): Show c.179G>A	p.Ter others(5): Show p.Ter60Ter	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	3/3	603/6893	179/180	60/59		chr15	TogoVar
DAD1_chr14_22559907_22594224	22575104	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG00280.hp2 HG01109.hp1 HG01884.hp2 others(26): Show HG00280.hp2 HG01109.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0006 a0001c0002t0004 a0001c0002t0006	a0001c0002t0004g0014 a0001c0002t0004g0146 a0001c0002t0004g0148 others(23): Show a0001c0002t0004g0014 a0001c0002t0004g0146 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0170 a0001c0002t0004g0171 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0006g0042 a0001c0002t0006g0218 a0001c0002t0006g0219 a0001c0002t0006g0220 a0001c0002t0006g0221 a0001c0002t0006g0222	29	386	0.0751	0	c.341 others(3): Show c.341G>A	p.Ter others(6): Show p.Ter114Ter	DAD1	ENSG00000129562.11	transcript	ENST00000250498.9	protein_coding	2/3	408/684	341/342	114/113		chr14	TogoVar
DCAF16_chr4_17795655_17815757	17803491	T T	C C	stop_retained_variant stop_retained_variant	LOW	NA18944.hp2 NA18946.hp1 NA18998.hp2 others(1): Show NA18944.hp2 NA18946.hp1 NA18998.hp2 NA19091.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0087 a0001c0004t0001g0029 a0001c0004t0001g0087	4	424	0.0094	0	c.651 others(3): Show c.651A>G	p.Ter others(6): Show p.Ter217Ter	DCAF16	ENSG00000163257.11	transcript	ENST00000382247.6	protein_coding	3/3	1711/4547	651/651	217/216		chr4	TogoVar
DCDC2C_chr2_3698575_3853008	3847182	A A	G G	stop_retained_variant stop_retained_variant	LOW	NA18971.hp2 NA18971.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0023 a0000c0011t0023	a0000c0011t0023g0046 a0000c0011t0023g0046	1	324	0.0031	0	c.109 others(4): Show c.1094A>G	p.Ter others(6): Show p.Ter365Ter	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	11/11	1271/2097	1094/1095	365/364		chr2	TogoVar
DDX55_chr12_123597099_123625943	123620139	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG00733.hp1 HG00735.hp2 HG00738.hp2 others(72): Show HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01516.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18977.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0004 a0002c0007 others(3): Show a0001c0002 a0002c0004 a0002c0007 a0002c0008 a0002c0011 a0004c0009	a0001c0002t0002 a0001c0002t0016 a0001c0002t0022 others(29): Show a0001c0002t0002 a0001c0002t0016 a0001c0002t0022 a0001c0002t0029 a0001c0002t0048 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0071 a0002c0004t0012 a0002c0004t0015 a0002c0004t0019 a0002c0004t0031 a0002c0004t0032 a0002c0004t0033 a0002c0004t0034 a0002c0004t0035 a0002c0004t0075 a0002c0004t0076 a0002c0004t0077 a0002c0007t0012 a0002c0007t0072 a0002c0008t0037 a0002c0008t0038 a0002c0008t0040 a0002c0008t0049 a0002c0011t0034 a0002c0011t0042 a0002c0011t0046 a0004c0009t0019 a0004c0009t0073 a0004c0009t0074	a0001c0002t0002g0002 a0001c0002t0002g0014 a0001c0002t0002g0029 others(51): Show a0001c0002t0002g0002 a0001c0002t0002g0014 a0001c0002t0002g0029 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0126 a0001c0002t0016g0010 a0001c0002t0016g0045 a0001c0002t0022g0128 a0001c0002t0022g0129 a0001c0002t0029g0084 a0001c0002t0029g0085 a0001c0002t0048g0010 a0001c0002t0050g0010 a0001c0002t0051g0010 a0001c0002t0052g0010 a0001c0002t0071g0088 a0002c0004t0012g0004 a0002c0004t0012g0061 a0002c0004t0015g0004 a0002c0004t0015g0032 a0002c0004t0015g0060 a0002c0004t0019g0058 a0002c0004t0031g0004 a0002c0004t0031g0059 a0002c0004t0032g0004 a0002c0004t0032g0057 a0002c0004t0033g0004 a0002c0004t0033g0046 a0002c0004t0034g0021 a0002c0004t0035g0021 a0002c0004t0035g0055 a0002c0004t0075g0004 a0002c0004t0076g0054 a0002c0004t0077g0021 a0002c0007t0012g0019 a0002c0007t0012g0048 a0002c0007t0012g0049 a0002c0007t0072g0019 a0002c0008t0037g0062 a0002c0008t0038g0081 a0002c0008t0040g0079 a0002c0008t0049g0080 a0002c0011t0034g0056 a0002c0011t0042g0068 a0002c0011t0046g0067 a0004c0009t0019g0012 a0004c0009t0073g0012 a0004c0009t0074g0012	75	304	0.2467	0	c.180 others(4): Show c.1802G>A	p.Ter others(6): Show p.Ter601Ter	DDX55	ENSG00000111364.16	transcript	ENST00000238146.9	protein_coding	14/14	1852/2656	1802/1803	601/600		chr12	TogoVar
DEPDC1_chr1_68469152_68502082	68476933	T T	C C	stop_retained_variant stop_retained_variant	LOW	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0106 a0001c0007t0006g0106	1	364	0.0028	0	c.243 others(4): Show c.2435A>G	p.Ter others(6): Show p.Ter812Ter	DEPDC1	ENSG00000024526.17	transcript	ENST00000456315.7	protein_coding	12/12	2518/5299	2435/2436	812/811		chr1	TogoVar
DMAC1_chr9_7791500_7804778	7798574	C C	T T	stop_retained_variant stop_retained_variant	LOW	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0073 a0001c0006t0002g0073	1	474	0.0021	0	c.338 others(3): Show c.338G>A	p.Ter others(6): Show p.Ter113Ter	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding	2/2	382/2456	338/339	113/112		chr9	TogoVar
ETHE1_chr19_43501719_43532201	43506851	C C	T T	stop_retained_variant stop_retained_variant	LOW	NA18951.hp2 NA18951.hp2	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0003 a0000c0004t0003	a0000c0004t0003g0235 a0000c0004t0003g0235	1	408	0.0025	0	c.764 others(3): Show c.764G>A	p.Ter others(6): Show p.Ter255Ter	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	7/7	788/920	764/765	255/254		chr19	TogoVar
FRAS1_chr4_78052323_78549269	78541124	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG02615.hp1 HG06807.hp2 HG02615.hp1 HG06807.hp2	a0070 a0089 a0070 a0089	a0070c0101 a0089c0117 a0070c0101 a0089c0117	a0070c0101t0014 a0089c0117t0014 a0070c0101t0014 a0089c0117t0014	a0070c0101t0014g0099 a0089c0117t0014g0002 a0070c0101t0014g0099 a0089c0117t0014g0002	2	178	0.0112	0	c.120 others(5): Show c.12039A>G	p.Ter others(7): Show p.Ter4013Ter	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	74/74	12726/15871	12039/12039	4013/4012		chr4	TogoVar
GM2A_chr5_151248185_151275440	151267451	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(94): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG03491.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19072.hp2 NA19074.hp2 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0010 a0006c0009 a0001c0002 a0002c0010 a0006c0009	a0001c0002t0001 a0001c0002t0013 a0001c0002t0016 others(9): Show a0001c0002t0001 a0001c0002t0013 a0001c0002t0016 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0038 a0001c0002t0041 a0001c0002t0043 a0002c0010t0036 a0002c0010t0037 a0006c0009t0001	a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0017 others(39): Show a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0074 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0013g0002 a0001c0002t0013g0111 a0001c0002t0013g0123 a0001c0002t0016g0002 a0001c0002t0016g0009 a0001c0002t0016g0128 a0001c0002t0022g0002 a0001c0002t0023g0002 a0001c0002t0024g0032 a0001c0002t0024g0102 a0001c0002t0038g0002 a0001c0002t0041g0002 a0001c0002t0043g0097 a0002c0010t0036g0129 a0002c0010t0037g0068 a0006c0009t0001g0050	97	412	0.2354	0	c.582 others(3): Show c.582A>G	p.Ter others(6): Show p.Ter194Ter	GM2A	ENSG00000196743.9	transcript	ENST00000357164.4	protein_coding	4/4	614/3603	582/582	194/193		chr5	TogoVar
GPANK1_chr6_31656228_31669997	31662267	C C	T T	stop_retained_variant stop_retained_variant	LOW	NA18960.hp1 NA18960.hp1	a0000 a0000	a0000c0013 a0000c0013	a0000c0013t0016 a0000c0013t0016	a0000c0013t0016g0042 a0000c0013t0016g0042	1	433	0.0023	0	c.107 others(4): Show c.1070G>A	p.Ter others(6): Show p.Ter357Ter	GPANK1	ENSG00000204438.11	transcript	ENST00000375896.9	protein_coding	3/3	1326/2365	1070/1071	357/356		chr6	TogoVar
GPAT2_chr2_96016946_96039916	96022159	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0085 a0001c0016t0001g0085	1	422	0.0024	0	c.240 others(4): Show c.2406G>A	p.Ter others(6): Show p.Ter802Ter	GPAT2	ENSG00000186281.13	transcript	ENST00000434632.6	protein_coding	22/22	2530/2743	2406/2406	802/801		chr2	TogoVar
GRK2_chr11_67261473_67291556	67285449	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG02615.hp2 HG06807.hp1 NA19043.hp1 HG02615.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0130 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0130 a0001c0004t0001g0156 a0001c0004t0001g0157	3	302	0.0099	0	c.206 others(4): Show c.2069G>A	p.Ter others(6): Show p.Ter690Ter	GRK2	ENSG00000173020.11	transcript	ENST00000308595.10	protein_coding	21/21	2296/3403	2069/2070	690/689		chr11	TogoVar
GSTM4_chr1_109651099_109666700	109661254	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG00642.hp1 HG01123.hp2 HG02109.hp1 others(14): Show HG00642.hp1 HG01123.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG03195.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0004 a0002c0003t0007 a0002c0003t0011 others(1): Show a0002c0003t0004 a0002c0003t0007 a0002c0003t0011 a0002c0006t0007	a0002c0003t0004g0001 a0002c0003t0004g0003 a0002c0003t0007g0034 others(3): Show a0002c0003t0004g0001 a0002c0003t0004g0003 a0002c0003t0007g0034 a0002c0003t0011g0001 a0002c0003t0011g0003 a0002c0006t0007g0033	17	364	0.0467	0	c.657 others(3): Show c.657A>G	p.Ter others(6): Show p.Ter219Ter	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding	8/8	948/1394	657/657	219/218		chr1	TogoVar
HLA-DPB1_chr6_33070990_33094696	33086236	TA TA	T T	stop_retained_variant stop_retained_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG00733.hp2 others(30): Show HG00408.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02155.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03540.hp1 HG04115.hp2 HG04184.hp2 NA18906.hp2 NA18966.hp1	a0000 a0000	a0000c0009 a0000c0012 a0000c0018 others(5): Show a0000c0009 a0000c0012 a0000c0018 a0000c0019 a0000c0025 a0000c0035 a0000c0037 a0000c0038	a0000c0009t0006 a0000c0009t0018 a0000c0012t0006 others(6): Show a0000c0009t0006 a0000c0009t0018 a0000c0012t0006 a0000c0018t0012 a0000c0019t0014 a0000c0025t0006 a0000c0035t0006 a0000c0037t0006 a0000c0038t0006	a0000c0009t0006g0014 a0000c0009t0006g0038 a0000c0009t0006g0089 others(11): Show a0000c0009t0006g0014 a0000c0009t0006g0038 a0000c0009t0006g0089 a0000c0009t0006g0090 a0000c0009t0006g0091 a0000c0009t0018g0095 a0000c0009t0018g0096 a0000c0012t0006g0009 a0000c0018t0012g0039 a0000c0019t0014g0049 a0000c0025t0006g0110 a0000c0035t0006g0014 a0000c0037t0006g0077 a0000c0038t0006g0120	33	455	0.0725	-1	c.1d others(3): Show c.1delA		HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding	5/6				INFO_REALIGN_3_PRIME	chr6	TogoVar
IP6K2_chr3_48683003_48722221	48688274	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG00639.hp2 HG00733.hp2 HG01070.hp1 others(6): Show HG00639.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01515.hp2 HG01517.hp1 HG03831.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0149 a0001c0003t0001g0152 others(4): Show a0001c0003t0001g0012 a0001c0003t0001g0149 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0160 a0001c0003t0001g0167	9	262	0.0344	0	c.128 others(4): Show c.1280G>A	p.Ter others(6): Show p.Ter427Ter	IP6K2	ENSG00000068745.15	transcript	ENST00000328631.10	protein_coding	6/6	1475/1746	1280/1281	427/426		chr3	TogoVar
KCNJ18_chr17_21687523_21709612	21704087	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG01167.hp1 HG01517.hp1 HG01517.hp2 others(40): Show HG01167.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG02300.hp1 HG02897.hp1 HG02976.hp2 HG03239.hp1 NA18941.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2	a0002 a0010 a0011 others(2): Show a0002 a0010 a0011 a0012 a0013	a0002c0002 a0002c0005 a0010c0010 others(3): Show a0002c0002 a0002c0005 a0010c0010 a0011c0007 a0012c0008 a0013c0009	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0012 a0002c0005t0005 a0002c0005t0006 a0002c0005t0007 a0010c0010t0009 a0011c0007t0002 a0012c0008t0002 a0013c0009t0005	a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 others(26): Show a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0030 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0026 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0008g0028 a0002c0002t0012g0054 a0002c0005t0005g0008 a0002c0005t0005g0014 a0002c0005t0005g0034 a0002c0005t0006g0019 a0002c0005t0006g0033 a0002c0005t0007g0035 a0010c0010t0009g0018 a0011c0007t0002g0003 a0012c0008t0002g0022 a0013c0009t0005g0008	43	112	0.3839	0	c.130 others(4): Show c.1301G>A	p.Ter others(6): Show p.Ter434Ter	KCNJ18	ENSG00000260458.3	transcript	ENST00000567955.3	protein_coding	3/3	1671/2196	1301/1302	434/433		chr17	TogoVar
KHNYN_chr14_24424954_24446843	24437284	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0002 a0002c0010t0002g0002	1	462	0.0022	0	c.203 others(4): Show c.2036G>A	p.Ter others(6): Show p.Ter679Ter	KHNYN	ENSG00000100441.10	transcript	ENST00000553935.6	protein_coding	8/8	2219/6778	2036/2037	679/678		chr14	TogoVar
KLK14_chr19_51072897_51087887	51078008	C C	T T	stop_retained_variant stop_retained_variant	LOW	NA18972.hp1 NA18985.hp2 NA18999.hp2 others(3): Show NA18972.hp1 NA18985.hp2 NA18999.hp2 NA19010.hp1 NA19058.hp2 NA19064.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0017 a0001c0005t0001g0053 a0001c0005t0001g0061 a0001c0005t0001g0017 a0001c0005t0001g0053 a0001c0005t0001g0061	6	444	0.0135	0	c.755 others(3): Show c.755G>A	p.Ter others(6): Show p.Ter252Ter	KLK14	ENSG00000129437.11	transcript	ENST00000650543.2	protein_coding	6/6	943/1054	755/756	252/251		chr19	TogoVar
KLK6_chr19_50953631_50974591	50959165	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0184 a0001c0009t0001g0184	1	316	0.0032	0	c.734 others(3): Show c.734G>A	p.Ter others(6): Show p.Ter245Ter	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	7/7	895/1429	734/735	245/244		chr19	TogoVar
KMT5C_chr19_55334876_55353121	55347448	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0001 a0001c0011t0001g0001	1	406	0.0025	0	c.138 others(4): Show c.1388G>A	p.Ter others(6): Show p.Ter463Ter	KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding	9/9	1613/2286	1388/1389	463/462		chr19	TogoVar
KRTAP1-4_chr17_41024351_41035195	41029714	T T	C C	stop_retained_variant stop_retained_variant	LOW	HG00597.hp1 HG02015.hp2 HG02165.hp1 HG00597.hp1 HG02015.hp2 HG02165.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0000 a0002c0005t0002g0000	3	429	0.0070	0	c.365 others(3): Show c.365A>G	p.Ter others(6): Show p.Ter122Ter	KRTAP1-4	ENSG00000204887.5	transcript	ENST00000377747.5	protein_coding	1/1	482/845	365/366	122/121		chr17	TogoVar
KRTAP7-1_chr21_30824039_30834759	30829436	C C	T T	stop_retained_variant stop_retained_variant	LOW	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	426	0.0024	0	c.263 others(3): Show c.263G>A	p.Ter others(5): Show p.Ter88Ter	KRTAP7-1	ENSG00000274749.1	transcript	ENST00000621162.1	protein_coding	1/1	324/721	263/264	88/87		chr21	TogoVar
KRTAP9-3_chr17_41227449_41238454	41232980	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0011 a0003c0006t0011	a0003c0006t0011g0000 a0003c0006t0011g0000	1	439	0.0023	0	c.479 others(3): Show c.479A>G	p.Ter others(6): Show p.Ter160Ter	KRTAP9-3	ENSG00000204873.5	transcript	ENST00000411528.4	protein_coding	1/1	532/1006	479/480	160/159		chr17	TogoVar
KTI12_chr1_52027103_52038810	52032698	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG00099.hp1 HG00423.hp1 HG00544.hp1 others(87): Show HG00099.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG01175.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18955.hp1 NA18959.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19001.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0010	a0001c0003 a0002c0002 a0002c0007 others(4): Show a0001c0003 a0002c0002 a0002c0007 a0003c0004 a0004c0006 a0009c0009 a0010c0011	a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 others(8): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0003t0009 a0002c0002t0002 a0002c0002t0003 a0002c0007t0002 a0003c0004t0001 a0004c0006t0001 a0009c0009t0001 a0010c0011t0001	a0001c0003t0001g0000 a0001c0003t0005g0000 a0001c0003t0006g0000 others(8): Show a0001c0003t0001g0000 a0001c0003t0005g0000 a0001c0003t0006g0000 a0001c0003t0009g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0007t0002g0000 a0003c0004t0001g0000 a0004c0006t0001g0000 a0009c0009t0001g0000 a0010c0011t0001g0000	90	318	0.2830	0	c.106 others(4): Show c.1064G>A	p.Ter others(6): Show p.Ter355Ter	KTI12	ENSG00000198841.4	transcript	ENST00000371614.2	protein_coding	1/1	1113/1708	1064/1065	355/354		chr1	TogoVar
LOC128031836_chr1_203797094_203807192	203802191	G G	A A	splice_region_variant others(1): Show splice_region_variant stop_retained_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	398	0.0025	0	c.98G others(2): Show c.98G>A	p.Ter others(5): Show p.Ter33Ter	LOC128031836	ENSG00000288644.1	transcript	ENST00000675181.1	protein_coding	1/1	98/99	98/99	33/32		chr1	TogoVar
NFIL3_chr9_91404045_91428832	91409346	T T	C C	stop_retained_variant stop_retained_variant	LOW	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0166 a0001c0009t0001g0166	1	454	0.0022	0	c.138 others(4): Show c.1389A>G	p.Ter others(6): Show p.Ter463Ter	NFIL3	ENSG00000165030.4	transcript	ENST00000297689.4	protein_coding	2/2	1754/2055	1389/1389	463/462		chr9	TogoVar
NIM1K_chr5_43187225_43285850	43280716	G G	GCTCGATT others(13): Show GCTCGATTTTATAAGGCTAGA	stop_retained_variant stop_retained_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0161 a0008c0013t0001g0161	1	292	0.0034	20	c.131 others(27): Show c.1311_*1insGGCTAGACTCGATTTTATAA		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	4/4				INFO_REALIGN_3_PRIME	chr5	TogoVar
NMB_chr15_84650132_84663199	84655375	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG01070.hp1 HG02258.hp2 HG02280.hp2 others(14): Show HG01070.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	17	408	0.0417	0	c.365 others(3): Show c.365G>A	p.Ter others(6): Show p.Ter122Ter	NMB	ENSG00000197696.10	transcript	ENST00000360476.8	protein_coding	3/3	412/655	365/366	122/121		chr15	TogoVar
NOP16_chr5_176378946_176393598	176384232	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG00280.hp1 HG01243.hp1 HG02738.hp1 others(14): Show HG00280.hp1 HG01243.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0006 a0001c0002t0004 a0001c0002t0006	a0001c0002t0004g0005 a0001c0002t0004g0010 a0001c0002t0006g0014 a0001c0002t0004g0005 a0001c0002t0004g0010 a0001c0002t0006g0014	17	434	0.0392	0	c.536 others(3): Show c.536G>A	p.Ter others(6): Show p.Ter179Ter	NOP16	ENSG00000048162.22	transcript	ENST00000614830.5	protein_coding	5/5	595/881	536/537	179/178		chr5	TogoVar
NPY_chr7_24279190_24296862	24291686	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0007 a0001c0006t0001g0007	1	476	0.0021	0	c.293 others(3): Show c.293G>A	p.Ter others(5): Show p.Ter98Ter	NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding	4/4	379/555	293/294	98/97		chr7	TogoVar
NUSAP1_chr15_41327881_41386046	41380186	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(21): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01975.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA19060.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0005 a0002c0003t0007 a0002c0003t0002 a0002c0003t0005 a0002c0003t0007	a0002c0003t0002g0202 a0002c0003t0002g0205 a0002c0003t0002g0206 others(21): Show a0002c0003t0002g0202 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0232 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0005g0013 a0002c0003t0005g0231 a0002c0003t0007g0219	24	292	0.0822	0	c.132 others(4): Show c.1326A>G	p.Ter others(6): Show p.Ter442Ter	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding	11/11	1403/2263	1326/1326	442/441		chr15	TogoVar
NYAP2_chr2_225394710_225708654	225698543	G G	A A	stop_retained_variant stop_retained_variant	LOW	HG00323.hp1 HG00438.hp1 HG00558.hp2 others(34): Show HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01934.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02165.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp2 HG03486.hp1 HG03540.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18964.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18988.hp2 NA19004.hp2 NA19062.hp2 NA19068.hp1 NA19078.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0001c0015 others(2): Show a0001c0003 a0001c0007 a0001c0015 a0001c0019 a0002c0014	a0001c0003t0003 a0001c0003t0005 a0001c0007t0005 others(4): Show a0001c0003t0003 a0001c0003t0005 a0001c0007t0005 a0001c0007t0012 a0001c0015t0003 a0001c0019t0005 a0002c0014t0045	a0001c0003t0003g0007 a0001c0003t0003g0013 a0001c0003t0003g0019 others(34): Show a0001c0003t0003g0007 a0001c0003t0003g0013 a0001c0003t0003g0019 a0001c0003t0003g0033 a0001c0003t0003g0039 a0001c0003t0003g0041 a0001c0003t0003g0046 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0071 a0001c0003t0003g0077 a0001c0003t0003g0079 a0001c0003t0003g0083 a0001c0003t0003g0089 a0001c0003t0003g0181 a0001c0003t0005g0190 a0001c0007t0005g0136 a0001c0007t0005g0138 a0001c0007t0005g0144 a0001c0007t0005g0152 a0001c0007t0005g0153 a0001c0007t0005g0154 a0001c0007t0005g0156 a0001c0007t0005g0164 a0001c0007t0012g0133 a0001c0007t0012g0134 a0001c0007t0012g0135 a0001c0015t0003g0037 a0001c0019t0005g0169 a0002c0014t0045g0096	37	192	0.1927	0	c.215 others(4): Show c.2159G>A	p.Ter others(6): Show p.Ter720Ter	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	8/8	3205/8316	2159/2160	720/719		chr2	TogoVar
OR8G1_chr11_124236095_124259364	124250610	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0017 a0002c0007t0017	a0002c0007t0017g0001 a0002c0007t0017g0001	3	430	0.0070	0	c.935 others(3): Show c.935A>G	p.Ter others(6): Show p.Ter312Ter	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1301/5055	935/936	312/311		chr11	TogoVar
PAQR6_chr1_156238320_156253056	156244130	C C	T T	stop_retained_variant stop_retained_variant	LOW	HG00280.hp1 HG00544.hp1 HG00558.hp1 others(97): Show HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18987.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19074.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA19091.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0005 a0004c0004 a0001c0002 a0002c0005 a0004c0004	a0001c0002t0001 a0001c0002t0005 a0002c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0005 a0002c0005t0001 a0004c0004t0001	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0018 others(7): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0005g0023 a0002c0005t0001g0024 a0004c0004t0001g0020	100	402	0.2488	0	c.103 others(4): Show c.1034G>A	p.Ter others(6): Show p.Ter345Ter	PAQR6	ENSG00000160781.17	transcript	ENST00000292291.10	protein_coding	8/8	1159/1969	1034/1035	345/344		chr1	TogoVar
PCDHB15_chr5_141240395_141254365	141247941	A A	G G	stop_retained_variant stop_retained_variant	LOW	HG01243.hp2 HG02280.hp1 HG02615.hp1 others(8): Show HG01243.hp2 HG02280.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02965.hp2 HG02976.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2	a0003 a0018 a0003 a0018	a0003c0007 a0003c0010 a0018c0027 a0003c0007 a0003c0010 a0018c0027	a0003c0007t0001 a0003c0007t0022 a0003c0010t0005 others(1): Show a0003c0007t0001 a0003c0007t0022 a0003c0010t0005 a0018c0027t0001	a0003c0007t0001g0000 a0003c0007t0022g0000 a0003c0010t0005g0000 others(1): Show a0003c0007t0001g0000 a0003c0007t0022g0000 a0003c0010t0005g0000 a0018c0027t0001g0000	11	422	0.0261	0	c.236 others(4): Show c.2363A>G	p.Ter others(6): Show p.Ter788Ter	PCDHB15	ENSG00000113248.6	transcript	ENST00000231173.6	protein_coding	1/1	2547/3971	2363/2364	788/787		chr5	TogoVar
PCSK6_chr15_101298933_101494707	101305259	T T	C C	stop_retained_variant stop_retained_variant	LOW	NA18955.hp2 NA18955.hp2	a0000 a0000	a0000c0028 a0000c0028	a0000c0028t0017 a0000c0028t0017	a0000c0028t0017g0001 a0000c0028t0017g0001	1	336	0.0030	0	c.290 others(4): Show c.2909A>G	p.Ter others(6): Show p.Ter970Ter	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	22/22	2946/4272	2909/2910	970/969		chr15	TogoVar

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