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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Show

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
DDTL_chr22_23961888_23977556	23971341	GGA GGA	G G	frameshift_variant frameshift_variant	HIGH	HG02027.hp2 HG02135.hp1 HG03688.hp1 others(6): Show HG02027.hp2 HG02135.hp1 HG03688.hp1 NA18969.hp1 NA18979.hp1 NA19005.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0011 a0002c0003t0006g0040 a0002c0003t0006g0011 a0002c0003t0006g0040	9	324	0.0278	-2	c.345 others(9): Show c.345_346delGA	p.Glu others(5): Show p.Glu115fs	DDTL	ENSG00000099974.8	transcript	ENST00000215770.6	protein_coding	3/3	372/1582	345/405	115/134	INFO_REALIGN_3_PRIME	chr22	TogoVar
DEFA4_chr8_6930820_6943306	6936727	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02015.hp2 HG02074.hp1 NA18960.hp1 others(15): Show HG02015.hp2 HG02074.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18978.hp1 NA18979.hp2 NA19006.hp1 NA19012.hp1 NA19060.hp2 NA19064.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19086.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	18	486	0.0370	0	c.172 others(5): Show c.172+1G>T		DEFA4	ENSG00000164821.5	transcript	ENST00000297435.3	protein_coding	2/2					chr8	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
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp1 HG02155.hp1 HG02922.hp1 others(8): Show HG00621.hp1 HG02155.hp1 HG02922.hp1 HG03492.hp1 HG06807.hp1 NA18747.hp2 NA18946.hp2 NA18948.hp2 NA18979.hp2 NA18983.hp1 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0008 a0009c0021 a0001c0001 a0001c0008 a0009c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0061 a0001c0001t0088 a0001c0001t0099 a0001c0008t0026 a0009c0021t0032	a0001c0001t0001g0130 a0001c0001t0003g0065 a0001c0001t0003g0087 others(8): Show a0001c0001t0001g0130 a0001c0001t0003g0065 a0001c0001t0003g0087 a0001c0001t0004g0094 a0001c0001t0005g0224 a0001c0001t0018g0018 a0001c0001t0061g0078 a0001c0001t0088g0260 a0001c0001t0099g0315 a0001c0008t0026g0235 a0009c0021t0032g0265	11	316	0.0348	28	c.623 others(39): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DHDH_chr19_48928699_48949969	48939592	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0002 a0006 a0019 others(3): Show a0002 a0006 a0019 a0020 a0024 a0025	a0002c0002 a0002c0005 a0002c0027 others(7): Show a0002c0002 a0002c0005 a0002c0027 a0002c0028 a0006c0007 a0006c0021 a0019c0030 a0020c0035 a0024c0023 a0025c0036	a0002c0002t0001 a0002c0005t0001 a0002c0027t0001 others(7): Show a0002c0002t0001 a0002c0005t0001 a0002c0027t0001 a0002c0028t0001 a0006c0007t0001 a0006c0021t0001 a0019c0030t0001 a0020c0035t0001 a0024c0023t0001 a0025c0036t0001	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0019 others(59): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0058 a0002c0002t0001g0090 a0002c0002t0001g0100 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0202 a0002c0005t0001g0002 a0002c0005t0001g0007 a0002c0005t0001g0015 a0002c0005t0001g0029 a0002c0005t0001g0188 a0002c0005t0001g0195 a0002c0005t0001g0196 a0002c0005t0001g0197 a0002c0005t0001g0198 a0002c0005t0001g0199 a0002c0005t0001g0200 a0002c0027t0001g0168 a0002c0028t0001g0081 a0006c0007t0001g0018 a0006c0007t0001g0025 a0006c0007t0001g0108 a0006c0007t0001g0150 a0006c0007t0001g0152 a0006c0007t0001g0160 a0006c0007t0001g0163 a0006c0021t0001g0112 a0006c0021t0001g0165 a0019c0030t0001g0201 a0020c0035t0001g0003 a0024c0023t0001g0098 a0025c0036t0001g0007	132	436	0.3028	1	c.517 others(4): Show c.517dupG	p.Ala others(5): Show p.Ala173fs	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	4/7	541/1064	518/1005	173/334	INFO_REALIGN_3_PRIME	chr19	TogoVar
DNAH11_chr7_21538039_21906839	21543345	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18992.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0008 a0009 a0016 others(81): Show a0008 a0009 a0016 a0017 a0018 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0159 a0160 a0161 a0162 a0163 a0164 a0165 a0166 a0167 a0168 a0169 a0170 a0171 a0172 a0173 a0174 a0175 a0176 a0177 a0178 a0179 a0180 a0181 a0182 a0183 a0184 a0185 a0186 a0187 a0188 a0189 a0190 a0191 a0192 a0193 a0194 a0195 a0196 a0197 a0198 a0199 a0200 a0201 a0202 a0203 a0204 a0205 a0206 a0207 a0208 a0209 a0210 a0211 a0212 a0213 a0214 a0215 a0216 a0217 a0218 a0219 a0220 a0221 a0222 a0223 a0224 a0225 a0226	a0008c0214 a0008c0262 a0008c0266 others(98): Show a0008c0214 a0008c0262 a0008c0266 a0008c0272 a0009c0210 a0009c0212 a0009c0217 a0009c0270 a0016c0268 a0016c0271 a0016c0277 a0017c0016 a0017c0199 a0018c0017 a0018c0202 a0031c0218 a0031c0263 a0032c0244 a0032c0267 a0033c0021 a0034c0020 a0035c0198 a0035c0203 a0036c0229 a0036c0237 a0037c0224 a0037c0226 a0038c0019 a0039c0222 a0039c0223 a0040c0018 a0041c0253 a0041c0254 a0159c0251 a0160c0240 a0161c0250 a0162c0239 a0163c0252 a0164c0193 a0165c0184 a0166c0191 a0167c0192 a0168c0183 a0169c0188 a0170c0190 a0171c0189 a0172c0186 a0173c0187 a0174c0185 a0175c0242 a0176c0216 a0177c0246 a0178c0243 a0179c0264 a0180c0269 a0181c0265 a0182c0273 a0183c0211 a0184c0276 a0185c0245 a0186c0247 a0187c0248 a0188c0209 a0189c0206 a0190c0205 a0191c0201 a0192c0200 a0193c0196 a0194c0204 a0195c0213 a0196c0215 a0197c0194 a0198c0207 a0199c0197 a0200c0195 a0201c0208 a0202c0241 a0203c0231 a0204c0236 a0205c0225 a0206c0230 a0207c0235 a0208c0232 a0209c0234 a0210c0228 a0211c0233 a0212c0227 a0213c0238 a0214c0220 a0215c0221 a0216c0219 a0217c0274 a0218c0275 a0219c0249 a0220c0255 a0221c0256 a0222c0258 a0223c0259 a0224c0261 a0225c0257 a0226c0260	a0008c0214t0006 a0008c0262t0001 a0008c0266t0005 others(99): Show a0008c0214t0006 a0008c0262t0001 a0008c0266t0005 a0008c0272t0001 a0009c0210t0001 a0009c0212t0001 a0009c0217t0001 a0009c0270t0006 a0016c0268t0002 a0016c0271t0002 a0016c0277t0002 a0017c0016t0003 a0017c0199t0003 a0018c0017t0011 a0018c0202t0006 a0031c0218t0002 a0031c0263t0002 a0032c0244t0003 a0032c0267t0005 a0033c0021t0002 a0033c0021t0004 a0034c0020t0006 a0035c0198t0002 a0035c0203t0002 a0036c0229t0005 a0036c0237t0005 a0037c0224t0001 a0037c0226t0001 a0038c0019t0003 a0039c0222t0002 a0039c0223t0002 a0040c0018t0001 a0041c0253t0003 a0041c0254t0003 a0159c0251t0004 a0160c0240t0004 a0161c0250t0002 a0162c0239t0003 a0163c0252t0001 a0164c0193t0004 a0165c0184t0001 a0166c0191t0003 a0167c0192t0005 a0168c0183t0004 a0169c0188t0003 a0170c0190t0026 a0171c0189t0021 a0172c0186t0001 a0173c0187t0024 a0174c0185t0001 a0175c0242t0001 a0176c0216t0003 a0177c0246t0001 a0178c0243t0002 a0179c0264t0005 a0180c0269t0004 a0181c0265t0003 a0182c0273t0017 a0183c0211t0012 a0184c0276t0013 a0185c0245t0005 a0186c0247t0002 a0187c0248t0001 a0188c0209t0002 a0189c0206t0004 a0190c0205t0001 a0191c0201t0003 a0192c0200t0012 a0193c0196t0023 a0194c0204t0002 a0195c0213t0003 a0196c0215t0003 a0197c0194t0001 a0198c0207t0002 a0199c0197t0004 a0200c0195t0002 a0201c0208t0006 a0202c0241t0001 a0203c0231t0005 a0204c0236t0002 a0205c0225t0002 a0206c0230t0010 a0207c0235t0001 a0208c0232t0003 a0209c0234t0005 a0210c0228t0003 a0211c0233t0002 a0212c0227t0003 a0213c0238t0003 a0214c0220t0001 a0215c0221t0001 a0216c0219t0001 a0217c0274t0003 a0218c0275t0002 a0219c0249t0002 a0220c0255t0002 a0221c0256t0007 a0222c0258t0007 a0223c0259t0007 a0224c0261t0007 a0225c0257t0007 a0226c0260t0016	a0008c0214t0006g0175 a0008c0262t0001g0139 a0008c0266t0005g0137 others(104): Show a0008c0214t0006g0175 a0008c0262t0001g0139 a0008c0266t0005g0137 a0008c0272t0001g0185 a0009c0210t0001g0209 a0009c0212t0001g0216 a0009c0217t0001g0182 a0009c0270t0006g0148 a0016c0268t0002g0150 a0016c0271t0002g0153 a0016c0277t0002g0155 a0017c0016t0003g0172 a0017c0016t0003g0173 a0017c0199t0003g0141 a0018c0017t0011g0170 a0018c0017t0011g0171 a0018c0202t0006g0163 a0031c0218t0002g0130 a0031c0263t0002g0140 a0032c0244t0003g0180 a0032c0267t0005g0186 a0033c0021t0002g0144 a0033c0021t0004g0152 a0034c0020t0006g0138 a0034c0020t0006g0145 a0035c0198t0002g0143 a0035c0203t0002g0162 a0036c0229t0005g0207 a0036c0237t0005g0201 a0037c0224t0001g0218 a0037c0226t0001g0136 a0038c0019t0003g0156 a0038c0019t0003g0190 a0039c0222t0002g0181 a0039c0223t0002g0178 a0040c0018t0001g0128 a0040c0018t0001g0157 a0041c0253t0003g0179 a0041c0254t0003g0161 a0159c0251t0004g0198 a0160c0240t0004g0132 a0161c0250t0002g0133 a0162c0239t0003g0215 a0163c0252t0001g0199 a0164c0193t0004g0188 a0165c0184t0001g0225 a0166c0191t0003g0189 a0167c0192t0005g0197 a0168c0183t0004g0211 a0169c0188t0003g0214 a0170c0190t0026g0219 a0171c0189t0021g0196 a0172c0186t0001g0210 a0173c0187t0024g0187 a0174c0185t0001g0224 a0175c0242t0001g0129 a0176c0216t0003g0158 a0177c0246t0001g0231 a0178c0243t0002g0195 a0179c0264t0005g0146 a0180c0269t0004g0151 a0181c0265t0003g0147 a0182c0273t0017g0149 a0183c0211t0012g0232 a0184c0276t0013g0154 a0185c0245t0005g0127 a0186c0247t0002g0167 a0187c0248t0001g0230 a0188c0209t0002g0164 a0189c0206t0004g0174 a0190c0205t0001g0229 a0191c0201t0003g0131 a0192c0200t0012g0134 a0193c0196t0023g0169 a0194c0204t0002g0165 a0195c0213t0003g0142 a0196c0215t0003g0202 a0197c0194t0001g0159 a0198c0207t0002g0166 a0199c0197t0004g0176 a0200c0195t0002g0168 a0201c0208t0006g0177 a0202c0241t0001g0194 a0203c0231t0005g0192 a0204c0236t0002g0213 a0205c0225t0002g0204 a0206c0230t0010g0203 a0207c0235t0001g0206 a0208c0232t0003g0208 a0209c0234t0005g0212 a0210c0228t0003g0191 a0211c0233t0002g0205 a0212c0227t0003g0135 a0213c0238t0003g0193 a0214c0220t0001g0200 a0215c0221t0001g0233 a0216c0219t0001g0223 a0217c0274t0003g0184 a0218c0275t0002g0183 a0219c0249t0002g0217 a0220c0255t0002g0160 a0221c0256t0007g0221 a0222c0258t0007g0228 a0223c0259t0007g0220 a0224c0261t0007g0227 a0225c0257t0007g0222 a0226c0260t0016g0226	107	298	0.3591	0	c.100 others(3): Show c.100G>T	p.Glu others(3): Show p.Glu34*	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	1/82	307/14343	100/13551	34/4516		chr7	TogoVar
DNAJC28_chr21_33483055_33496716	33488442	CAATTA CAATTA	C C	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00609.hp1 HG00609.hp2 others(58): Show HG00323.hp1 HG00609.hp1 HG00609.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01433.hp1 HG01934.hp1 HG01981.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02523.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18942.hp2 NA18953.hp2 NA18954.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0012 others(3): Show a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0021 a0002c0002t0001g0038	61	415	0.1470	-5	c.947 others(12): Show c.947_951delTAATT	p.Leu others(5): Show p.Leu316fs	DNAJC28	ENSG00000177692.13	transcript	ENST00000381947.4	protein_coding	2/2	1097/1485	947/1167	316/388		chr21	TogoVar
DSP_chr6_7536671_7591714	7541915	C C	CA CA	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA19001.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0012 a0015 a0016 a0017 a0021 a0026 a0028 a0034	a0001c0007 a0001c0011 a0001c0014 others(22): Show a0001c0007 a0001c0011 a0001c0014 a0001c0041 a0001c0044 a0002c0003 a0002c0018 a0002c0030 a0003c0009 a0003c0013 a0003c0028 a0003c0038 a0003c0040 a0005c0008 a0006c0042 a0008c0019 a0009c0029 a0012c0032 a0015c0031 a0016c0039 a0017c0047 a0021c0046 a0026c0045 a0028c0043 a0034c0037	a0001c0007t0001 a0001c0011t0001 a0001c0014t0001 others(24): Show a0001c0007t0001 a0001c0011t0001 a0001c0014t0001 a0001c0041t0001 a0001c0044t0001 a0002c0003t0001 a0002c0018t0001 a0002c0030t0001 a0003c0009t0002 a0003c0009t0003 a0003c0013t0002 a0003c0013t0003 a0003c0028t0002 a0003c0038t0002 a0003c0040t0002 a0005c0008t0001 a0006c0042t0001 a0008c0019t0001 a0009c0029t0001 a0012c0032t0003 a0015c0031t0002 a0016c0039t0001 a0017c0047t0001 a0021c0046t0001 a0026c0045t0002 a0028c0043t0001 a0034c0037t0002	a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0162 others(104): Show a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0162 a0001c0007t0001g0180 a0001c0007t0001g0217 a0001c0007t0001g0259 a0001c0007t0001g0263 a0001c0007t0001g0267 a0001c0007t0001g0270 a0001c0007t0001g0287 a0001c0007t0001g0314 a0001c0007t0001g0316 a0001c0011t0001g0161 a0001c0011t0001g0236 a0001c0011t0001g0250 a0001c0011t0001g0262 a0001c0011t0001g0264 a0001c0011t0001g0272 a0001c0011t0001g0307 a0001c0011t0001g0313 a0001c0014t0001g0249 a0001c0014t0001g0256 a0001c0014t0001g0258 a0001c0014t0001g0274 a0001c0014t0001g0276 a0001c0041t0001g0319 a0001c0044t0001g0045 a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0130 a0002c0003t0001g0170 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0260 a0002c0003t0001g0268 a0002c0003t0001g0271 a0002c0003t0001g0284 a0002c0003t0001g0286 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0312 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0321 a0002c0003t0001g0330 a0002c0003t0001g0371 a0002c0003t0001g0375 a0002c0003t0001g0376 a0002c0018t0001g0261 a0002c0018t0001g0266 a0002c0018t0001g0289 a0002c0018t0001g0306 a0002c0030t0001g0073 a0002c0030t0001g0298 a0003c0009t0002g0044 a0003c0009t0002g0169 a0003c0009t0002g0252 a0003c0009t0002g0279 a0003c0009t0002g0281 a0003c0009t0002g0283 a0003c0009t0002g0302 a0003c0009t0002g0308 a0003c0009t0003g0294 a0003c0013t0002g0156 a0003c0013t0002g0229 a0003c0013t0002g0269 a0003c0013t0002g0290 a0003c0013t0002g0334 a0003c0013t0003g0265 a0003c0028t0002g0257 a0003c0028t0002g0275 a0003c0038t0002g0070 a0003c0040t0002g0301 a0005c0008t0001g0014 a0005c0008t0001g0038 a0005c0008t0001g0293 a0005c0008t0001g0295 a0005c0008t0001g0296 a0005c0008t0001g0299 a0005c0008t0001g0303 a0005c0008t0001g0304 a0005c0008t0001g0305 a0005c0008t0001g0310 a0006c0042t0001g0251 a0008c0019t0001g0278 a0008c0019t0001g0297 a0008c0019t0001g0309 a0008c0019t0001g0377 a0009c0029t0001g0226 a0009c0029t0001g0227 a0012c0032t0003g0247 a0012c0032t0003g0288 a0015c0031t0002g0280 a0015c0031t0002g0282 a0016c0039t0001g0323 a0017c0047t0001g0030 a0021c0046t0001g0300 a0026c0045t0002g0359 a0028c0043t0001g0273 a0034c0037t0002g0315	112	396	0.2828	1	c.1du others(2): Show c.1dupA	p.Met others(3): Show p.Met1fs	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/24	247/9697	2/8616	1/2871	INFO_REALIGN_3_PRIME	chr6	TogoVar
DYNLT5_chr1_66747459_66784047	66776404	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG01070.hp2 HG01168.hp1 HG01517.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 NA18948.hp1 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp2 NA19012.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0010 a0003c0003t0021 a0003c0003t0002 a0003c0003t0010 a0003c0003t0021	a0003c0003t0002g0007 a0003c0003t0002g0011 a0003c0003t0002g0012 others(30): Show a0003c0003t0002g0007 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0037 a0003c0003t0002g0040 a0003c0003t0002g0043 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0109 a0003c0003t0002g0113 a0003c0003t0002g0124 a0003c0003t0002g0132 a0003c0003t0002g0161 a0003c0003t0002g0164 a0003c0003t0010g0011 a0003c0003t0010g0096 a0003c0003t0010g0097 a0003c0003t0021g0095	55	402	0.1368	0	c.336 others(5): Show c.336+1G>A		DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding	4/4					chr1	TogoVar
EBLN2_chr3_73056659_73068337	73062330	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0002c0009 a0005c0006 others(1): Show a0002c0002 a0002c0009 a0005c0006 a0006c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0009t0003 a0005c0006t0002 a0006c0007t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0009t0003g0000 a0005c0006t0002g0000 a0006c0007t0002g0000	114	428	0.2664	1	c.250 others(4): Show c.250dupA	p.Arg others(4): Show p.Arg84fs	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	674/1679	251/819	84/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
EGF_chr4_109907883_110018766	110011233	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show HG00423.hp1 HG00609.hp2 HG00621.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp2 HG02523.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18962.hp2 NA18965.hp2 NA18978.hp1 NA18979.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19054.hp1 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19076.hp2 NA19080.hp2 NA19091.hp2	a0003 a0013 a0021 a0003 a0013 a0021	a0003c0003 a0013c0015 a0021c0031 a0003c0003 a0013c0015 a0021c0031	a0003c0003t0005 a0003c0003t0008 a0003c0003t0018 others(4): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0018 a0003c0003t0026 a0013c0015t0005 a0013c0015t0018 a0021c0031t0005	a0003c0003t0005g0002 a0003c0003t0005g0003 a0003c0003t0005g0014 others(43): Show a0003c0003t0005g0002 a0003c0003t0005g0003 a0003c0003t0005g0014 a0003c0003t0005g0017 a0003c0003t0005g0018 a0003c0003t0005g0020 a0003c0003t0005g0021 a0003c0003t0005g0022 a0003c0003t0005g0024 a0003c0003t0005g0026 a0003c0003t0005g0028 a0003c0003t0005g0030 a0003c0003t0005g0031 a0003c0003t0005g0032 a0003c0003t0005g0033 a0003c0003t0005g0035 a0003c0003t0005g0036 a0003c0003t0005g0037 a0003c0003t0005g0038 a0003c0003t0005g0041 a0003c0003t0005g0042 a0003c0003t0005g0043 a0003c0003t0005g0045 a0003c0003t0005g0048 a0003c0003t0005g0050 a0003c0003t0008g0002 a0003c0003t0008g0025 a0003c0003t0008g0027 a0003c0003t0008g0034 a0003c0003t0008g0040 a0003c0003t0008g0044 a0003c0003t0008g0046 a0003c0003t0008g0047 a0003c0003t0008g0049 a0003c0003t0008g0051 a0003c0003t0008g0052 a0003c0003t0008g0053 a0003c0003t0008g0054 a0003c0003t0008g0373 a0003c0003t0018g0188 a0003c0003t0018g0228 a0003c0003t0026g0015 a0003c0003t0026g0016 a0013c0015t0005g0369 a0013c0015t0018g0221 a0021c0031t0005g0029	47	388	0.1211	1	c.340 others(5): Show c.3406dupC	p.Gln others(6): Show p.Gln1136fs	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	24/24	3860/6388	3407/3624	1136/1207	INFO_REALIGN_3_PRIME	chr4	TogoVar
ELOA2_chr18_47027527_47040621	47033546	GTCTT GTCTT	G G	frameshift_variant frameshift_variant	HIGH	NA18945.hp2 NA18954.hp1 NA18978.hp2 others(3): Show NA18945.hp2 NA18954.hp1 NA18978.hp2 NA18979.hp2 NA19010.hp1 NA19086.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0004	a0007c0006t0004g0000 a0007c0006t0004g0000	6	448	0.0134	-4	c.171 others(13): Show c.1715_1718delAAGA	p.Lys others(5): Show p.Lys572fs	ELOA2	ENSG00000206181.7	transcript	ENST00000332567.6	protein_coding	1/1	2075/3095	1715/2262	572/753		chr18	TogoVar
ENDOU_chr12_47704734_47730490	47718186	T T	A A	stop_gained stop_gained	HIGH	NA18965.hp2 NA18966.hp2 NA18971.hp1 others(2): Show NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp2 NA19083.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0026 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0026 a0003c0004t0001g0070 a0003c0004t0001g0071	5	422	0.0119	0	c.187 others(3): Show c.187A>T	p.Lys others(3): Show p.Lys63*	ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding	3/10	264/2378	187/1233	63/410		chr12	TogoVar
EPB41L4A_chr5_112157619_112424277	112165119	C C	CTAAAA CTAAAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(219): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0021 others(26): Show a0001c0001 a0001c0002 a0001c0021 a0001c0026 a0002c0003 a0002c0007 a0002c0008 a0002c0018 a0003c0004 a0003c0005 a0004c0010 a0004c0011 a0004c0014 a0005c0006 a0005c0015 a0006c0012 a0006c0016 a0006c0023 a0007c0013 a0007c0017 a0008c0009 a0009c0029 a0010c0025 a0012c0024 a0013c0020 a0014c0028 a0015c0027 a0016c0019 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0022 a0001c0002t0025 a0001c0002t0031 a0001c0002t0032 a0001c0002t0036 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0049 a0001c0002t0050 a0001c0021t0002 a0001c0026t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0019 a0002c0003t0026 a0002c0003t0044 a0002c0007t0002 a0002c0007t0021 a0002c0007t0030 a0002c0007t0034 a0002c0008t0001 a0002c0008t0016 a0002c0008t0021 a0002c0018t0035 a0003c0004t0004 a0003c0004t0023 a0003c0004t0048 a0003c0005t0009 a0003c0005t0013 a0004c0010t0011 a0004c0011t0001 a0004c0014t0011 a0005c0006t0004 a0005c0015t0004 a0006c0012t0002 a0006c0012t0015 a0006c0016t0001 a0006c0023t0002 a0007c0013t0007 a0007c0017t0002 a0008c0009t0010 a0008c0009t0023 a0009c0029t0010 a0010c0025t0001 a0012c0024t0033 a0013c0020t0047 a0014c0028t0003 a0015c0027t0010 a0016c0019t0010 a0017c0030t0001	a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0103 others(217): Show a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0219 a0001c0001t0005g0113 a0001c0001t0005g0116 a0001c0001t0005g0123 a0001c0001t0005g0139 a0001c0001t0005g0157 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0184 a0001c0001t0005g0199 a0001c0001t0006g0013 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0007g0126 a0001c0001t0007g0141 a0001c0001t0007g0145 a0001c0001t0007g0147 a0001c0001t0007g0197 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0014g0182 a0001c0001t0016g0044 a0001c0001t0017g0004 a0001c0001t0017g0048 a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0020g0002 a0001c0001t0022g0209 a0001c0001t0024g0111 a0001c0001t0024g0129 a0001c0001t0027g0064 a0001c0001t0028g0014 a0001c0001t0029g0005 a0001c0001t0037g0135 a0001c0001t0038g0169 a0001c0001t0040g0137 a0001c0001t0045g0200 a0001c0001t0046g0104 a0001c0001t0051g0226 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0105 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0143 a0001c0002t0001g0162 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0002g0012 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0003g0097 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0108 a0001c0002t0003g0115 a0001c0002t0003g0118 a0001c0002t0003g0140 a0001c0002t0003g0146 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0142 a0001c0002t0005g0150 a0001c0002t0005g0222 a0001c0002t0014g0098 a0001c0002t0014g0124 a0001c0002t0015g0046 a0001c0002t0019g0075 a0001c0002t0022g0109 a0001c0002t0025g0223 a0001c0002t0025g0224 a0001c0002t0031g0059 a0001c0002t0032g0042 a0001c0002t0036g0125 a0001c0002t0039g0173 a0001c0002t0041g0082 a0001c0002t0042g0194 a0001c0002t0043g0165 a0001c0002t0049g0094 a0001c0002t0050g0225 a0001c0021t0002g0016 a0001c0026t0001g0203 a0002c0003t0001g0155 a0002c0003t0002g0006 a0002c0003t0003g0096 a0002c0003t0006g0038 a0002c0003t0006g0054 a0002c0003t0006g0055 a0002c0003t0006g0056 a0002c0003t0012g0095 a0002c0003t0012g0215 a0002c0003t0012g0218 a0002c0003t0012g0221 a0002c0003t0019g0073 a0002c0003t0026g0003 a0002c0003t0044g0220 a0002c0007t0002g0052 a0002c0007t0021g0076 a0002c0007t0030g0053 a0002c0007t0034g0079 a0002c0008t0001g0132 a0002c0008t0001g0214 a0002c0008t0016g0057 a0002c0008t0021g0078 a0002c0018t0035g0077 a0003c0004t0004g0087 a0003c0004t0004g0090 a0003c0004t0004g0167 a0003c0004t0004g0217 a0003c0004t0023g0151 a0003c0004t0048g0085 a0003c0005t0009g0025 a0003c0005t0009g0026 a0003c0005t0009g0030 a0003c0005t0009g0033 a0003c0005t0009g0034 a0003c0005t0009g0035 a0003c0005t0013g0027 a0003c0005t0013g0028 a0003c0005t0013g0032 a0004c0010t0011g0071 a0004c0010t0011g0072 a0004c0010t0011g0080 a0004c0011t0001g0152 a0004c0011t0001g0153 a0004c0014t0011g0069 a0004c0014t0011g0070 a0005c0006t0004g0088 a0005c0006t0004g0128 a0005c0006t0004g0207 a0005c0006t0004g0208 a0005c0006t0004g0210 a0005c0006t0004g0211 a0005c0015t0004g0161 a0006c0012t0002g0047 a0006c0012t0015g0045 a0006c0016t0001g0130 a0006c0023t0002g0015 a0007c0013t0007g0106 a0007c0013t0007g0107 a0007c0017t0002g0029 a0008c0009t0010g0049 a0008c0009t0010g0050 a0008c0009t0023g0202 a0009c0029t0010g0037 a0010c0025t0001g0138 a0012c0024t0033g0074 a0013c0020t0047g0204 a0014c0028t0003g0163 a0015c0027t0010g0036 a0016c0019t0010g0011 a0017c0030t0001g0188	222	228	0.9737	5	c.193 others(18): Show c.1933-6_1933-2dupTTTTA		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	22/22					chr5	TogoVar
EPHA8_chr1_22558489_22608595	22601406	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG01099.hp2 HG02071.hp1 others(5): Show HG00735.hp1 HG01099.hp2 HG02071.hp1 NA18959.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp1 NA18985.hp2	a0000 a0000	a0000c0007 a0000c0041 a0000c0042 a0000c0007 a0000c0041 a0000c0042	a0000c0007t0001 a0000c0007t0003 a0000c0007t0010 others(3): Show a0000c0007t0001 a0000c0007t0003 a0000c0007t0010 a0000c0007t0035 a0000c0041t0001 a0000c0042t0003	a0000c0007t0001g0005 a0000c0007t0001g0218 a0000c0007t0001g0269 others(5): Show a0000c0007t0001g0005 a0000c0007t0001g0218 a0000c0007t0001g0269 a0000c0007t0003g0197 a0000c0007t0010g0158 a0000c0007t0035g0006 a0000c0041t0001g0031 a0000c0042t0003g0106	8	342	0.0234	1	c.283 others(5): Show c.2838dupG	p.Tyr others(5): Show p.Tyr947fs	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	16/17	2986/5019	2839/3018	947/1005	INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM166A_chr9_137238599_137252751	137245305	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 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.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.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 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 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 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0005 others(22): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0024 a0002c0003 a0003c0004 a0003c0019 a0004c0007 a0005c0009 a0006c0008 a0007c0025 a0008c0023 a0009c0020 a0010c0015 a0011c0013 a0012c0011	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(22): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0021t0001 a0001c0022t0001 a0001c0024t0001 a0002c0003t0001 a0003c0004t0001 a0003c0019t0001 a0004c0007t0001 a0005c0009t0001 a0006c0008t0001 a0007c0025t0001 a0008c0023t0001 a0009c0020t0001 a0010c0015t0001 a0011c0013t0001 a0012c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0036 a0001c0002t0001g0052 a0001c0002t0001g0070 a0001c0005t0001g0013 a0001c0005t0001g0061 a0001c0006t0001g0018 a0001c0006t0001g0050 a0001c0010t0001g0026 a0001c0012t0001g0058 a0001c0014t0001g0034 a0001c0016t0001g0037 a0001c0017t0001g0063 a0001c0018t0001g0039 a0001c0021t0001g0044 a0001c0022t0001g0049 a0001c0024t0001g0069 a0002c0003t0001g0003 a0002c0003t0001g0059 a0003c0004t0001g0005 a0003c0004t0001g0064 a0003c0019t0001g0040 a0004c0007t0001g0021 a0004c0007t0001g0071 a0005c0009t0001g0025 a0006c0008t0001g0038 a0006c0008t0001g0068 a0007c0025t0001g0045 a0008c0023t0001g0066 a0009c0020t0001g0041 a0010c0015t0001g0033 a0011c0013t0001g0031 a0012c0011t0001g0057	418	418	1.0000	0	c.522 others(5): Show c.522+2C>T		FAM166A	ENSG00000188163.8	transcript	ENST00000344774.6	protein_coding	3/6					chr9	TogoVar
FAM166B_chr9_35556831_35568878	35562396	A A	ATAGT ATAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show HG00099.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02738.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18976.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0003c0005 a0002c0003 a0003c0004 a0003c0005	a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 others(1): Show a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0003c0005t0001	a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 others(4): Show a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0002g0019 a0003c0004t0001g0006 a0003c0005t0001g0009	87	436	0.1995	4	c.719 others(11): Show c.719_722dupACTA	p.Tyr others(5): Show p.Tyr241fs	FAM166B	ENSG00000215187.13	transcript	ENST00000399742.7	protein_coding	5/6	772/1054	722/828	241/275		chr9	TogoVar
FBRSL1_chr12_132485151_132590188	132570140	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG01175.hp1 HG01978.hp1 others(8): Show HG00423.hp2 HG01175.hp1 HG01978.hp1 HG02145.hp1 HG02698.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 NA18979.hp2 NA19000.hp1 NA19010.hp1	a0005 a0016 a0021 a0005 a0016 a0021	a0005c0031 a0005c0032 a0005c0051 others(5): Show a0005c0031 a0005c0032 a0005c0051 a0005c0052 a0005c0053 a0005c0054 a0016c0026 a0021c0076	a0005c0031t0001 a0005c0031t0029 a0005c0032t0002 others(7): Show a0005c0031t0001 a0005c0031t0029 a0005c0032t0002 a0005c0051t0021 a0005c0052t0006 a0005c0053t0006 a0005c0054t0003 a0016c0026t0001 a0016c0026t0003 a0021c0076t0015	a0005c0031t0001g0258 a0005c0031t0029g0061 a0005c0032t0002g0017 others(8): Show a0005c0031t0001g0258 a0005c0031t0029g0061 a0005c0032t0002g0017 a0005c0032t0002g0316 a0005c0051t0021g0038 a0005c0052t0006g0093 a0005c0053t0006g0076 a0005c0054t0003g0068 a0016c0026t0001g0167 a0016c0026t0003g0194 a0021c0076t0015g0286	11	348	0.0316	1	c.911 others(4): Show c.911dupC	p.Gln others(5): Show p.Gln305fs	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	7/19	1332/4839	912/3009	304/1002	INFO_REALIGN_3_PRIME	chr12	TogoVar
FGF22_chr19_634879_649373	643527	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(26): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG01106.hp2 HG01175.hp2 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02135.hp1 HG02145.hp1 HG02615.hp1 HG02897.hp2 HG03654.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18950.hp1 NA18953.hp1 NA18967.hp2 NA18979.hp1 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp2 NA19090.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 others(3): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 a0000c0002t0007 a0000c0002t0009 a0000c0002t0010	a0000c0002t0001g0001 a0000c0002t0001g0004 a0000c0002t0001g0035 others(15): Show a0000c0002t0001g0001 a0000c0002t0001g0004 a0000c0002t0001g0035 a0000c0002t0001g0038 a0000c0002t0001g0083 a0000c0002t0001g0091 a0000c0002t0001g0100 a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0008 a0000c0002t0002g0028 a0000c0002t0002g0036 a0000c0002t0002g0040 a0000c0002t0002g0076 a0000c0002t0004g0011 a0000c0002t0007g0007 a0000c0002t0009g0103 a0000c0002t0010g0016	29	434	0.0668	1	c.444 others(4): Show c.444dupG	p.Pro others(5): Show p.Pro149fs	FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding	3/3	492/1329	445/513	149/170	INFO_REALIGN_3_PRIME	chr19	TogoVar
FLG_chr1_152297165_152330239	152302822	T T	A A	stop_gained stop_gained	HIGH	HG02132.hp1 NA18979.hp1 HG02132.hp1 NA18979.hp1	a0041 a0041	a0041c0045 a0041c0045	a0041c0045t0001 a0041c0045t0001	a0041c0045t0001g0169 a0041c0045t0001g0194 a0041c0045t0001g0169 a0041c0045t0001g0194	2	426	0.0047	0	c.120 others(5): Show c.12064A>T	p.Lys others(5): Show p.Lys4022*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	12136/12793	12064/12186	4022/4061		chr1	TogoVar
FMO2_chr1_171180300_171217686	171208951	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.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 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.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 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0015 a0002c0002 others(14): Show a0001c0001 a0001c0015 a0002c0002 a0002c0019 a0003c0003 a0003c0016 a0004c0005 a0004c0008 a0004c0009 a0005c0004 a0006c0006 a0009c0011 a0010c0012 a0011c0014 a0012c0013 a0014c0021 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0015t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0014 a0003c0016t0002 a0004c0005t0003 a0004c0008t0002 a0004c0008t0023 a0004c0009t0004 a0005c0004t0003 a0005c0004t0008 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0009c0011t0002 a0010c0012t0002 a0011c0014t0006 a0012c0013t0001 a0014c0021t0002 a0015c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(195): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0002g0090 a0001c0001t0007g0003 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0019 a0001c0001t0007g0057 a0001c0001t0007g0070 a0001c0001t0010g0006 a0001c0001t0010g0030 a0001c0001t0013g0010 a0001c0001t0013g0050 a0001c0001t0013g0065 a0001c0001t0018g0083 a0001c0001t0019g0087 a0001c0001t0020g0089 a0001c0001t0022g0067 a0001c0015t0003g0051 a0001c0015t0003g0072 a0001c0015t0003g0084 a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0024 a0002c0002t0004g0028 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0173 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0012 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0140 a0002c0002t0005g0150 a0002c0002t0025g0024 a0002c0019t0004g0004 a0003c0003t0001g0180 a0003c0003t0002g0001 a0003c0003t0002g0018 a0003c0003t0002g0029 a0003c0003t0002g0045 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0185 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0014g0001 a0003c0003t0014g0045 a0003c0016t0002g0029 a0003c0016t0002g0184 a0004c0005t0003g0005 a0004c0005t0003g0025 a0004c0005t0003g0037 a0004c0005t0003g0040 a0004c0005t0003g0126 a0004c0005t0003g0127 a0004c0005t0003g0132 a0004c0005t0003g0135 a0004c0005t0003g0141 a0004c0005t0003g0145 a0004c0005t0003g0148 a0004c0008t0002g0035 a0004c0008t0002g0107 a0004c0008t0002g0109 a0004c0008t0002g0111 a0004c0008t0002g0147 a0004c0008t0002g0165 a0004c0008t0023g0046 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175 a0005c0004t0003g0013 a0005c0004t0003g0017 a0005c0004t0003g0043 a0005c0004t0003g0044 a0005c0004t0003g0153 a0005c0004t0003g0154 a0005c0004t0003g0155 a0005c0004t0003g0156 a0005c0004t0003g0159 a0005c0004t0003g0160 a0005c0004t0003g0161 a0005c0004t0003g0162 a0005c0004t0003g0163 a0005c0004t0003g0164 a0005c0004t0003g0166 a0005c0004t0003g0167 a0005c0004t0003g0169 a0005c0004t0003g0170 a0005c0004t0008g0026 a0005c0004t0008g0027 a0005c0004t0008g0157 a0005c0004t0008g0158 a0005c0004t0008g0168 a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 a0006c0006t0006g0113 a0006c0006t0006g0114 a0006c0006t0006g0115 a0006c0006t0006g0116 a0006c0006t0006g0117 a0006c0006t0006g0118 a0006c0006t0006g0120 a0006c0006t0006g0121 a0006c0006t0006g0122 a0006c0006t0006g0123 a0006c0006t0011g0007 a0006c0006t0011g0119 a0006c0006t0016g0023 a0009c0011t0002g0021 a0009c0011t0002g0106 a0010c0012t0002g0022 a0011c0014t0006g0091 a0011c0014t0006g0095 a0011c0014t0006g0096 a0012c0013t0001g0032 a0012c0013t0001g0064 a0014c0021t0002g0001 a0015c0020t0001g0186	349	366	0.9536	0	c.141 others(4): Show c.1414C>T	p.Gln others(4): Show p.Gln472*	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1480/5215	1414/1608	472/535		chr1	TogoVar
FMO2_chr1_171180300_171217686	171209118	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show HG00140.hp2 HG00544.hp2 HG00741.hp2 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18956.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0019 a0004c0009 a0002c0002 a0002c0019 a0004c0009	a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 others(2): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0004c0009t0004	a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 others(40): Show a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0024 a0002c0002t0004g0028 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0173 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0012 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0140 a0002c0002t0005g0150 a0002c0002t0025g0024 a0002c0019t0004g0004 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175	81	366	0.2213	1	c.158 others(5): Show c.1588dupT	p.Cys others(5): Show p.Cys530fs	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1655/5215	1589/1608	530/535	INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXD4L1_chr2_113493665_113506150	113500127	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp2	a0000 a0000	a0000c0002 a0000c0005 a0000c0009 others(3): Show a0000c0002 a0000c0005 a0000c0009 a0000c0010 a0000c0017 a0000c0018	a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 others(5): Show a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 a0000c0005t0002 a0000c0009t0012 a0000c0010t0002 a0000c0017t0013 a0000c0018t0002	a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 others(5): Show a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 a0000c0005t0002g0000 a0000c0009t0012g0000 a0000c0010t0002g0000 a0000c0017t0013g0000 a0000c0018t0002g0000	99	326	0.3037	-1	c.876 others(4): Show c.876delC	p.Gly others(5): Show p.Gly293fs	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding	1/1	1468/2486	876/1227	292/408	INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXD4L1_chr2_113493665_113506150	113500482	A A	G G	stop_lost stop_lost	HIGH	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp2	a0000 a0000	a0000c0002 a0000c0005 a0000c0009 others(4): Show a0000c0002 a0000c0005 a0000c0009 a0000c0010 a0000c0011 a0000c0017 a0000c0018	a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 others(6): Show a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 a0000c0005t0002 a0000c0009t0012 a0000c0010t0002 a0000c0011t0002 a0000c0017t0013 a0000c0018t0002	a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 others(6): Show a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 a0000c0005t0002g0000 a0000c0009t0012g0000 a0000c0010t0002g0000 a0000c0011t0002g0000 a0000c0017t0013g0000 a0000c0018t0002g0000	101	326	0.3098	0	c.122 others(4): Show c.1226A>G	p.Ter others(11): Show p.Ter409Trpext*?	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding	1/1	1818/2486	1226/1227	409/408		chr2	TogoVar
FOXD4_chr9_111231_123417	116800	C C	G G	stop_lost stop_lost	HIGH	HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1	a0000 a0000	a0000c0002 a0000c0006 a0000c0016 others(5): Show a0000c0002 a0000c0006 a0000c0016 a0000c0027 a0000c0038 a0000c0039 a0000c0040 a0000c0043	a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 others(9): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 a0000c0002t0011 a0000c0006t0001 a0000c0006t0002 a0000c0016t0002 a0000c0027t0002 a0000c0038t0003 a0000c0039t0015 a0000c0040t0002 a0000c0043t0001	a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 others(9): Show a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 a0000c0002t0011g0000 a0000c0006t0001g0000 a0000c0006t0002g0000 a0000c0016t0002g0000 a0000c0027t0002g0000 a0000c0038t0003g0000 a0000c0039t0015g0000 a0000c0040t0002g0000 a0000c0043t0001g0000	108	452	0.2389	0	c.132 others(4): Show c.1320G>C	p.Ter others(11): Show p.Ter440Tyrext*?	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1618/2187	1320/1320	440/439		chr9	TogoVar
FZD8_chr10_35633247_35647296	35639499	GGC GGC	G G	frameshift_variant frameshift_variant	HIGH	HG02132.hp2 NA18954.hp2 NA18979.hp2 others(2): Show HG02132.hp2 NA18954.hp2 NA18979.hp2 NA18987.hp2 NA19089.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0004 a0000c0005t0001 a0000c0005t0004	a0000c0005t0001g0000 a0000c0005t0004g0000 a0000c0005t0001g0000 a0000c0005t0004g0000	5	404	0.0124	-2	c.192 others(11): Show c.1929_1930delGC	p.Pro others(5): Show p.Pro644fs	FZD8	ENSG00000177283.8	transcript	ENST00000374694.3	protein_coding	1/1	2797/4050	1929/2085	643/694		chr10	TogoVar
GAPVD1_chr9_125256826_125372207	125301963	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp2 HG00621.hp1 HG01081.hp2 others(27): Show HG00544.hp2 HG00621.hp1 HG01081.hp2 HG01123.hp1 HG01255.hp2 HG01257.hp1 HG01361.hp2 HG01993.hp2 HG02027.hp1 HG02074.hp1 HG02129.hp2 HG04228.hp2 NA18940.hp1 NA18949.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18979.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0038 a0001c0002t0003 a0001c0002t0007 a0001c0002t0038	a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0123 others(27): Show a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0123 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0134 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0151 a0001c0002t0007g0124 a0001c0002t0007g0129 a0001c0002t0007g0133 a0001c0002t0007g0135 a0001c0002t0007g0136 a0001c0002t0007g0137 a0001c0002t0007g0142 a0001c0002t0007g0143 a0001c0002t0007g0149 a0001c0002t0007g0150 a0001c0002t0038g0141	30	340	0.0882	2	c.186 others(13): Show c.186-4_186-3dupTT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27				INFO_REALIGN_3_PRIME	chr9	TogoVar
GIP_chr17_48953554_48973596	48961726	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	406	0.0025	0	c.350 others(5): Show c.350+1G>T		GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	4/5					chr17	TogoVar
GNRH2_chr20_3038622_3050747	3045699	A A	AGCCCC AGCCCC	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03209.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA20300.hp2 NA20905.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0002 a0000c0002t0001 a0000c0002t0002	a0000c0002t0001g0002 a0000c0002t0001g0005 a0000c0002t0002g0002 others(1): Show a0000c0002t0001g0002 a0000c0002t0001g0005 a0000c0002t0002g0002 a0000c0002t0002g0020	101	446	0.2265	5	c.319 others(12): Show c.319_323dupCCGCC	p.Ser others(5): Show p.Ser109fs	GNRH2	ENSG00000125787.11	transcript	ENST00000359100.6	protein_coding	4/4	375/404	324/342	108/113	INFO_REALIGN_3_PRIME	chr20	TogoVar
GOLGA8R_chr15_30395562_30419260	30406983	G G	A A	stop_gained stop_gained	HIGH	NA18979.hp1 NA18979.hp1	a0021 a0021	a0021c0041 a0021c0041	a0021c0041t0030 a0021c0041t0030	a0021c0041t0030g0071 a0021c0041t0030g0071	1	184	0.0054	0	c.116 others(4): Show c.1165C>T	p.Gln others(4): Show p.Gln389*	GOLGA8R	ENSG00000186399.11	transcript	ENST00000327271.11	protein_coding	13/19	1263/5172	1165/1896	389/631		chr15	TogoVar
GSTT2B_chr22_23952414_23966195	23960293	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02027.hp2 HG02056.hp2 HG02135.hp2 others(2): Show HG02027.hp2 HG02056.hp2 HG02135.hp2 NA18979.hp1 NA19012.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0004 a0004c0006 a0005c0007 a0003c0004 a0004c0006 a0005c0007	a0003c0004t0001 a0004c0006t0001 a0004c0006t0005 others(1): Show a0003c0004t0001 a0004c0006t0001 a0004c0006t0005 a0005c0007t0001	a0003c0004t0001g0016 a0003c0004t0001g0018 a0004c0006t0001g0023 others(2): Show a0003c0004t0001g0016 a0003c0004t0001g0018 a0004c0006t0001g0023 a0004c0006t0005g0022 a0005c0007t0001g0017	5	119	0.0420	0	c.200 others(5): Show c.200+1G>A		GSTT2B	ENSG00000133433.11	transcript	ENST00000290765.9	protein_coding	2/4					chr22	TogoVar
H2BW2_chrX_104034956_104047454	104040193	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG03041.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0007 a0004c0009 a0002c0002 a0002c0007 a0004c0009	a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0004c0009t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0013 others(4): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0002g0001 a0002c0007t0001g0001 a0004c0009t0001g0001	112	332	0.3374	0	c.199 others(3): Show c.199C>T	p.Gln others(3): Show p.Gln67*	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding	1/4	238/870	199/447	67/148		chrX	TogoVar
H6PD_chr1_9229774_9276337	9244919	CCCCAGGC others(1): Show CCCCAGGCA	C C	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show HG00140.hp2 HG00642.hp1 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02165.hp1 HG02258.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18962.hp2 NA18973.hp2 NA18979.hp2 NA19012.hp1 NA19079.hp2 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0023	a0001c0001 a0001c0004 a0001c0020 others(4): Show a0001c0001 a0001c0004 a0001c0020 a0002c0005 a0002c0006 a0017c0049 a0023c0041	a0001c0001t0008 a0001c0001t0022 a0001c0004t0005 others(11): Show a0001c0001t0008 a0001c0001t0022 a0001c0004t0005 a0001c0004t0044 a0001c0004t0088 a0001c0004t0089 a0001c0004t0090 a0001c0020t0085 a0002c0005t0008 a0002c0005t0022 a0002c0005t0087 a0002c0006t0005 a0017c0049t0086 a0023c0041t0008	a0001c0001t0008g0002 a0001c0001t0008g0049 a0001c0001t0008g0253 others(28): Show a0001c0001t0008g0002 a0001c0001t0008g0049 a0001c0001t0008g0253 a0001c0001t0008g0258 a0001c0001t0008g0265 a0001c0001t0008g0266 a0001c0001t0022g0125 a0001c0001t0022g0262 a0001c0004t0005g0002 a0001c0004t0005g0023 a0001c0004t0005g0048 a0001c0004t0005g0256 a0001c0004t0005g0257 a0001c0004t0005g0263 a0001c0004t0005g0264 a0001c0004t0005g0269 a0001c0004t0005g0270 a0001c0004t0044g0023 a0001c0004t0088g0261 a0001c0004t0089g0259 a0001c0004t0090g0002 a0001c0020t0085g0002 a0002c0005t0008g0002 a0002c0005t0008g0267 a0002c0005t0008g0268 a0002c0005t0008g0271 a0002c0005t0022g0255 a0002c0005t0087g0002 a0002c0006t0005g0048 a0017c0049t0086g0254 a0023c0041t0008g0260	40	404	0.0990	-8	c.-7_ others(12): Show c.-7_1delCCCAGGCA	p.Met others(3): Show p.Met1fs	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	2/5	297/9147	1/2376	1/791	INFO_REALIGN_3_PRIME	chr1	TogoVar
HCAR2_chr12_122696293_122708357	122702193	TAAGGA TAAGGA	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00597.hp1 HG00609.hp1 NA18747.hp1 others(2): Show HG00597.hp1 HG00609.hp1 NA18747.hp1 NA18979.hp2 NA18987.hp2	a0000 a0000	a0000c0004 a0000c0006 a0000c0004 a0000c0006	a0000c0004t0006 a0000c0006t0006 a0000c0004t0006 a0000c0006t0006	a0000c0004t0006g0000 a0000c0006t0006g0000 a0000c0004t0006g0000 a0000c0006t0006g0000	5	428	0.0117	-5	c.108 others(14): Show c.1086_1090delTCCTT	p.Pro others(5): Show p.Pro363fs	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding	1/1	1164/2065	1086/1092	362/363		chr12	TogoVar
HLA-A_chr6_29937532_29950870	29943463	T T	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(85): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0004 a0029 others(3): Show a0001 a0004 a0029 a0032 a0039 a0043	a0001c0001 a0004c0004 a0029c0027 others(3): Show a0001c0001 a0004c0004 a0029c0027 a0032c0031 a0039c0039 a0043c0038	a0001c0001t0002 a0004c0004t0004 a0029c0027t0004 others(3): Show a0001c0001t0002 a0004c0004t0004 a0029c0027t0004 a0032c0031t0002 a0039c0039t0002 a0043c0038t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 a0004c0004t0004g0004 a0004c0004t0004g0023 a0004c0004t0004g0028 a0029c0027t0004g0004 a0032c0031t0002g0002 a0039c0039t0002g0002 a0043c0038t0002g0022	88	418	0.2105	0	c.539 others(3): Show c.539T>A	p.Leu others(4): Show p.Leu180*	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding	3/8	561/1535	539/1098	180/365		chr6	TogoVar
HLA-B_chr6_31348875_31362179	31356366	G G	T T	stop_gained stop_gained	HIGH	HG00438.hp2 HG00621.hp2 HG01074.hp1 others(44): Show HG00438.hp2 HG00621.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG01516.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG03209.hp1 HG03579.hp2 HG03834.hp1 HG04204.hp2 NA18522.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18998.hp1 NA19000.hp2 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19067.hp2 NA19075.hp2 NA19078.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0014 a0018 a0024 others(7): Show a0014 a0018 a0024 a0025 a0029 a0030 a0031 a0033 a0039 a0066	a0014c0014 a0018c0016 a0024c0023 others(7): Show a0014c0014 a0018c0016 a0024c0023 a0025c0024 a0029c0031 a0030c0030 a0031c0029 a0033c0033 a0039c0038 a0066c0058	a0014c0014t0010 a0014c0014t0036 a0018c0016t0006 others(9): Show a0014c0014t0010 a0014c0014t0036 a0018c0016t0006 a0024c0023t0006 a0025c0024t0006 a0029c0031t0010 a0030c0030t0010 a0031c0029t0010 a0033c0033t0022 a0033c0033t0024 a0039c0038t0022 a0066c0058t0010	a0014c0014t0010g0020 a0014c0014t0010g0063 a0014c0014t0036g0110 others(13): Show a0014c0014t0010g0020 a0014c0014t0010g0063 a0014c0014t0036g0110 a0018c0016t0006g0015 a0024c0023t0006g0022 a0025c0024t0006g0023 a0029c0031t0010g0046 a0029c0031t0010g0109 a0030c0030t0010g0045 a0030c0030t0010g0108 a0031c0029t0010g0044 a0031c0029t0010g0107 a0033c0033t0022g0081 a0033c0033t0024g0040 a0039c0038t0022g0041 a0066c0058t0010g0106	47	468	0.1004	0	c.420 others(3): Show c.420C>A	p.Tyr others(4): Show p.Tyr140*	HLA-B	ENSG00000234745.14	transcript	ENST00000412585.7	protein_coding	3/8	441/1536	420/1089	140/362		chr6	TogoVar
HLA-DPB1_chr6_33070990_33094696	33080689	G G	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show HG00280.hp1 HG00323.hp1 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0000 a0006 a0008 others(10): Show a0000 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0025 a0028 a0029	a0000c0009 a0000c0012 a0000c0018 others(15): Show a0000c0009 a0000c0012 a0000c0018 a0000c0019 a0000c0035 a0000c0037 a0006c0006 a0008c0008 a0009c0010 a0011c0013 a0012c0014 a0013c0015 a0014c0020 a0015c0022 a0016c0021 a0025c0031 a0028c0036 a0029c0034	a0000c0009t0006 a0000c0009t0018 a0000c0012t0006 others(18): Show a0000c0009t0006 a0000c0009t0018 a0000c0012t0006 a0000c0018t0012 a0000c0019t0014 a0000c0035t0006 a0000c0037t0006 a0006c0006t0003 a0008c0008t0003 a0008c0008t0013 a0009c0010t0003 a0009c0010t0027 a0011c0013t0008 a0012c0014t0007 a0013c0015t0001 a0014c0020t0003 a0015c0022t0003 a0016c0021t0003 a0025c0031t0030 a0028c0036t0003 a0029c0034t0016	a0000c0009t0006g0014 a0000c0009t0006g0038 a0000c0009t0006g0089 others(31): Show a0000c0009t0006g0014 a0000c0009t0006g0038 a0000c0009t0006g0089 a0000c0009t0006g0090 a0000c0009t0006g0091 a0000c0009t0018g0095 a0000c0009t0018g0096 a0000c0012t0006g0009 a0000c0018t0012g0039 a0000c0019t0014g0049 a0000c0035t0006g0014 a0000c0037t0006g0077 a0006c0006t0003g0004 a0008c0008t0003g0008 a0008c0008t0003g0012 a0008c0008t0003g0081 a0008c0008t0013g0008 a0009c0010t0003g0007 a0009c0010t0003g0114 a0009c0010t0027g0007 a0011c0013t0008g0031 a0011c0013t0008g0034 a0011c0013t0008g0076 a0011c0013t0008g0078 a0012c0014t0007g0013 a0012c0014t0007g0083 a0013c0015t0001g0023 a0013c0015t0001g0088 a0014c0020t0003g0007 a0015c0022t0003g0012 a0016c0021t0003g0045 a0025c0031t0030g0072 a0028c0036t0003g0012 a0029c0034t0016g0098	116	455	0.2550	0	c.118 others(3): Show c.118G>T	p.Gly others(3): Show p.Gly40*	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding	2/6	170/3991	118/777	40/258		chr6	TogoVar
HLA-DQB1_chr6_32654467_32671657	32664861	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0005 a0009 a0010 others(2): Show a0005 a0009 a0010 a0011 a0013	a0005c0006 a0005c0019 a0009c0010 others(3): Show a0005c0006 a0005c0019 a0009c0010 a0010c0009 a0011c0011 a0013c0013	a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 others(6): Show a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0011c0011t0009 a0013c0013t0011	a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 a0005c0006t0004g0026 a0005c0006t0004g0054 a0005c0019t0004g0056 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0011c0011t0009g0011 a0011c0011t0009g0029 a0011c0011t0009g0053 a0013c0013t0011g0013 a0013c0013t0011g0055	102	402	0.2537	0	c.316 others(3): Show c.316G>T	p.Glu others(4): Show p.Glu106*	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/5	366/1605	316/786	106/261		chr6	TogoVar
HLA-E_chr6_30484509_30499194	30490476	AAATACCT others(51): Show AAATACCTGGAGAAGGGGAAGGAGACGCTGCTTCACCTGGGTAAGAGGGT CCACAGGGC	A A	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18979.hp2 NA18979.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0011 a0006c0009t0001g0011	1	457	0.0022	-58	c.572 others(68): Show c.572_610+19delAATACCTGGAGAAGGGGAAGGAGACGCTGCTTCAC CTGGGTAAGAGGGTCCACAGGGC	p.Tyr others(13): Show p.Tyr192_Glu204del	HLA-E	ENSG00000204592.9	transcript	ENST00000376630.5	protein_coding	3/8	595/2548	572/1077	191/358		chr6	TogoVar
HP_chr16_72049505_72066055	72056410	GGCTTCTA others(1717): Show GGCTTCTATTCGGGGTGGAAGGAGATTGATGTGCAGAGCAGCTCCCGCTC ATCTGACTTTTCACGGTTCACTGGGAACAATTTCCAAATAGCAAACTCTC TGGCTTCTCTCTCTTTGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTG CACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTAC AAACTGCGCACAGAAGGAGATGGTAAGATGTGGACAACTGTCTCCATGCC CTACATACAACCCCCTTCTCTGACATTTCCATGATGGGTGGTGCTGAGGT GATTCGCCAGAAAGTTCGTTGCTCTCCTTGGAGCCAGGAGATTTAGATTC TAATAAGCGTTTTGTCGCCAGTAGCCATGGCCCTTTGGGCAGACTAACTT TTGTCAGCCTCAAGTTTTCTGTTTTGTTAAGGGGAGGCGATGCCATGCAG CCTACCTCATGTAAATCTCAGAGTCACATTTACATCTCCAGCAGATGTGG GAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGTGAGTCTTGC TGTCCTGGCACTGCTCTAAGGGCTTTATACTTATTTGCTCACTTAGTCCT CACAGTATCCCTCTGAACAGAGTTTATTGTTTTCACTTTGCTGATAAGGA AACTGAGGCACAGACAGGTTGAGTATCTTGCCCAAATTCAGGCAGCCTGT AAGAGGCAGAGTCAGGATTTGAACCCTGAGCCCTCCCTGTACTGCTTGGC TGTGACCGCCATGACCACAGTGTGTTCTGCTGGGCTTAACTGGTGTCCAG GCACTTGGCTTCCAGCACAGCACTCTTTCCCTTCCTCCTTCTCATATTCT CTCTCCTTTCTCCCTTCCTGTCTGCCTCCTTTCTTCTTCTTCTTTTTAAT TCTTCTCCTTAAATGCCTTCTCACTCTGCTCTGGGTGCAGACTTGACTTT TCCTTTGGCTCATTTCTTGCCTTTTGTTTCAGGAGTATACACCTTAAATG ATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGT GAAGCAGGTGGGTGCTGAGCACTGAGCACTTAAGAGAGCAGGCAGGCGTC CAGCGGGGAACGTCCTAGAGGCACAGCCTTCCAGTGCGGCTTCCTCTGAG CACACAAGAGCCAGGAGGAGGGATGTGGGAGAACCGCAGCTGGCCAGGGA GAGACTTAAGCAGTTAGGTGATGACTCCCTAAGGGTCACCAAGGGTCTTG TTCATTGGGGCCTGAAGGGCACTGGCTGAATCCACTGTCGGCACTGCCCA CAGATCAGGAGAGCCTGTGCATACAGAGAGCCTGCTAGAAAGCCCTGGGT CTAAGGAGAAGCAAGCTCCAGGGAGAACAAGTCAAGGAATGACATAAAAT CTTAATCCATGGAAGCCTAGCAGGAGGCTGGACATGGGCTGGAACTCCTG CTTCTCGTTATTAGGAGGAGCTGTTGCTCTCTCCTTTCATTCTCAGAACC AGAGGCAAAGACCCAGCCTCTTCTGCTCTTACTGGTGTGGAAATGCCAAC CTGCCTCGTATTAACTGCACCATCTACAAAATCTGAGCTCCAGCCAGTGC TGCTCTAGATTCATCTTTCTTTAGAGAGAATGAATTATTGTAGCCCCTAG CCCTTTCAATGAATTTCAGGGAATTGTGGAAATTCCTTTATTGGGATAAT TGTTTAAAAATAATACAGTTCGCGA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0018 a0002c0002 a0002c0006 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0006t0001 a0002c0018t0001	a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 others(6): Show a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0002g0011 a0002c0002t0004g0007 a0002c0002t0007g0026 a0002c0002t0010g0007 a0002c0006t0001g0002 a0002c0018t0001g0002	105	425	0.2471	-1724	c.191 others(15): Show c.191-189_368-188del		HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr16	TogoVar
HRNR_chr1_152207076_152229193	152223252	AT AT	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(208): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0092 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0001c0098 a0001c0099 a0001c0100 a0001c0101 a0001c0102 a0001c0103 a0001c0104 a0001c0105 a0001c0106 a0001c0107 a0001c0108 a0001c0109 a0001c0110 a0001c0111 a0001c0112 a0001c0113 a0001c0114 a0001c0115 a0001c0116 a0001c0117 a0001c0118 a0001c0119 a0001c0120 a0001c0121 a0001c0122 a0001c0123 a0001c0124 a0001c0125 a0001c0126 a0001c0127 a0001c0128 a0001c0129 a0001c0130 a0001c0131 a0001c0132 a0001c0133 a0001c0134 a0001c0135 a0001c0136 a0001c0137 a0001c0138 a0001c0139 a0001c0140 a0001c0141 a0001c0142 a0001c0143 a0001c0144 a0001c0145 a0001c0146 a0001c0147 a0001c0148 a0001c0149 a0001c0150 a0001c0151 a0001c0152 a0001c0153 a0001c0154 a0001c0155 a0001c0156 a0001c0157 a0001c0158 a0001c0159 a0001c0160 a0001c0161 a0001c0162 a0001c0163 a0001c0164 a0001c0165 a0001c0166 a0001c0167 a0001c0168 a0001c0169 a0001c0170 a0001c0171 a0001c0172 a0001c0173 a0001c0174 a0001c0175 a0001c0176 a0001c0177 a0001c0178 a0001c0179 a0001c0180 a0001c0181 a0001c0182 a0001c0183 a0001c0184 a0001c0185 a0001c0186 a0001c0187 a0001c0188 a0001c0189 a0001c0190 a0001c0191 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0001c0197 a0001c0198 a0001c0199 a0001c0200 a0001c0201 a0001c0202 a0001c0203 a0001c0204 a0001c0205 a0001c0206 a0001c0207 a0001c0208 a0001c0209 a0001c0210 a0001c0211 a0001c0212 a0001c0213 a0001c0214 a0001c0215 a0001c0216 a0001c0217 a0001c0218 a0001c0219 a0001c0220 a0001c0221 a0001c0222 a0001c0223 a0001c0224 a0001c0225 a0001c0226 a0001c0227 a0001c0228 a0001c0229 a0001c0230 a0001c0231	a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 others(209): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0007 a0001c0011t0001 a0001c0012t0001 a0001c0013t0005 a0001c0014t0008 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0004 a0001c0020t0001 a0001c0021t0005 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0006 a0001c0028t0006 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0003 a0001c0039t0004 a0001c0040t0001 a0001c0041t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0002 a0001c0045t0002 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0001 a0001c0077t0001 a0001c0078t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0001c0082t0001 a0001c0083t0001 a0001c0084t0001 a0001c0085t0001 a0001c0086t0001 a0001c0087t0001 a0001c0088t0001 a0001c0089t0001 a0001c0090t0001 a0001c0091t0014 a0001c0092t0016 a0001c0093t0001 a0001c0094t0001 a0001c0095t0017 a0001c0096t0001 a0001c0097t0015 a0001c0098t0011 a0001c0099t0001 a0001c0100t0001 a0001c0101t0001 a0001c0102t0001 a0001c0103t0001 a0001c0104t0001 a0001c0105t0001 a0001c0106t0001 a0001c0107t0001 a0001c0108t0001 a0001c0109t0001 a0001c0110t0001 a0001c0111t0001 a0001c0112t0001 a0001c0113t0001 a0001c0114t0006 a0001c0115t0006 a0001c0116t0001 a0001c0117t0001 a0001c0118t0001 a0001c0119t0001 a0001c0120t0001 a0001c0121t0001 a0001c0122t0001 a0001c0123t0001 a0001c0124t0001 a0001c0125t0001 a0001c0126t0001 a0001c0127t0001 a0001c0128t0001 a0001c0129t0001 a0001c0130t0001 a0001c0131t0001 a0001c0132t0001 a0001c0133t0001 a0001c0134t0001 a0001c0135t0001 a0001c0136t0001 a0001c0137t0001 a0001c0138t0001 a0001c0139t0001 a0001c0140t0001 a0001c0141t0001 a0001c0142t0001 a0001c0143t0001 a0001c0144t0001 a0001c0145t0001 a0001c0146t0001 a0001c0147t0001 a0001c0148t0001 a0001c0149t0001 a0001c0150t0001 a0001c0151t0001 a0001c0152t0001 a0001c0153t0001 a0001c0154t0001 a0001c0155t0001 a0001c0156t0001 a0001c0157t0001 a0001c0158t0001 a0001c0159t0001 a0001c0160t0010 a0001c0161t0001 a0001c0162t0001 a0001c0163t0010 a0001c0164t0005 a0001c0165t0001 a0001c0166t0001 a0001c0167t0001 a0001c0168t0001 a0001c0169t0001 a0001c0170t0001 a0001c0171t0001 a0001c0172t0001 a0001c0173t0001 a0001c0174t0001 a0001c0175t0001 a0001c0176t0001 a0001c0177t0001 a0001c0178t0001 a0001c0179t0001 a0001c0180t0001 a0001c0181t0001 a0001c0182t0003 a0001c0183t0003 a0001c0184t0004 a0001c0185t0001 a0001c0186t0002 a0001c0187t0002 a0001c0188t0002 a0001c0189t0002 a0001c0190t0002 a0001c0191t0013 a0001c0192t0002 a0001c0193t0002 a0001c0194t0002 a0001c0195t0002 a0001c0196t0002 a0001c0197t0002 a0001c0198t0002 a0001c0199t0002 a0001c0200t0002 a0001c0201t0002 a0001c0202t0002 a0001c0203t0002 a0001c0204t0002 a0001c0205t0002 a0001c0206t0009 a0001c0207t0002 a0001c0208t0002 a0001c0209t0002 a0001c0210t0018 a0001c0211t0002 a0001c0212t0002 a0001c0213t0002 a0001c0214t0002 a0001c0215t0002 a0001c0216t0002 a0001c0217t0002 a0001c0218t0002 a0001c0219t0002 a0001c0220t0002 a0001c0221t0002 a0001c0222t0002 a0001c0223t0002 a0001c0224t0002 a0001c0225t0002 a0001c0226t0002 a0001c0227t0002 a0001c0228t0005 a0001c0229t0005 a0001c0230t0008 a0001c0231t0005	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 others(217): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0193 a0001c0001t0002g0240 a0001c0001t0012g0226 a0001c0002t0002g0001 a0001c0002t0002g0034 a0001c0002t0002g0239 a0001c0003t0003g0003 a0001c0004t0001g0004 a0001c0005t0001g0005 a0001c0007t0001g0007 a0001c0007t0001g0048 a0001c0009t0007g0008 a0001c0011t0001g0009 a0001c0012t0001g0010 a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0014t0008g0013 a0001c0016t0001g0015 a0001c0017t0001g0016 a0001c0018t0001g0014 a0001c0019t0004g0020 a0001c0020t0001g0021 a0001c0021t0005g0019 a0001c0023t0001g0027 a0001c0024t0001g0028 a0001c0025t0001g0029 a0001c0026t0001g0030 a0001c0027t0006g0031 a0001c0028t0006g0032 a0001c0029t0001g0033 a0001c0030t0001g0035 a0001c0031t0001g0036 a0001c0032t0001g0037 a0001c0033t0001g0038 a0001c0034t0001g0022 a0001c0035t0001g0023 a0001c0036t0001g0024 a0001c0037t0001g0025 a0001c0038t0003g0041 a0001c0039t0004g0040 a0001c0040t0001g0043 a0001c0041t0002g0044 a0001c0042t0002g0042 a0001c0043t0002g0045 a0001c0044t0002g0046 a0001c0045t0002g0047 a0001c0061t0001g0140 a0001c0062t0001g0141 a0001c0063t0001g0142 a0001c0064t0001g0143 a0001c0065t0001g0074 a0001c0066t0001g0075 a0001c0067t0001g0076 a0001c0068t0001g0077 a0001c0069t0001g0078 a0001c0070t0001g0079 a0001c0071t0001g0080 a0001c0072t0001g0053 a0001c0073t0001g0081 a0001c0074t0001g0082 a0001c0075t0001g0083 a0001c0076t0001g0084 a0001c0077t0001g0085 a0001c0078t0001g0086 a0001c0079t0001g0087 a0001c0080t0001g0088 a0001c0081t0001g0089 a0001c0082t0001g0090 a0001c0083t0001g0091 a0001c0084t0001g0092 a0001c0085t0001g0093 a0001c0086t0001g0094 a0001c0087t0001g0095 a0001c0088t0001g0192 a0001c0089t0001g0096 a0001c0090t0001g0097 a0001c0091t0014g0098 a0001c0092t0016g0099 a0001c0093t0001g0100 a0001c0094t0001g0101 a0001c0095t0017g0102 a0001c0096t0001g0103 a0001c0097t0015g0104 a0001c0098t0011g0105 a0001c0099t0001g0106 a0001c0100t0001g0107 a0001c0101t0001g0108 a0001c0102t0001g0109 a0001c0103t0001g0110 a0001c0104t0001g0111 a0001c0105t0001g0112 a0001c0106t0001g0113 a0001c0107t0001g0114 a0001c0108t0001g0115 a0001c0109t0001g0116 a0001c0110t0001g0117 a0001c0111t0001g0118 a0001c0112t0001g0119 a0001c0113t0001g0120 a0001c0114t0006g0121 a0001c0115t0006g0122 a0001c0116t0001g0123 a0001c0117t0001g0124 a0001c0118t0001g0125 a0001c0119t0001g0126 a0001c0120t0001g0049 a0001c0121t0001g0127 a0001c0122t0001g0128 a0001c0123t0001g0129 a0001c0124t0001g0130 a0001c0125t0001g0131 a0001c0126t0001g0132 a0001c0127t0001g0133 a0001c0128t0001g0134 a0001c0129t0001g0135 a0001c0130t0001g0136 a0001c0131t0001g0137 a0001c0132t0001g0138 a0001c0133t0001g0144 a0001c0134t0001g0145 a0001c0135t0001g0146 a0001c0136t0001g0147 a0001c0137t0001g0148 a0001c0138t0001g0149 a0001c0139t0001g0150 a0001c0140t0001g0151 a0001c0141t0001g0152 a0001c0142t0001g0153 a0001c0143t0001g0154 a0001c0144t0001g0155 a0001c0145t0001g0156 a0001c0146t0001g0157 a0001c0147t0001g0158 a0001c0148t0001g0159 a0001c0149t0001g0160 a0001c0150t0001g0161 a0001c0151t0001g0162 a0001c0152t0001g0163 a0001c0153t0001g0164 a0001c0154t0001g0165 a0001c0155t0001g0166 a0001c0156t0001g0167 a0001c0157t0001g0168 a0001c0158t0001g0169 a0001c0159t0001g0170 a0001c0160t0010g0171 a0001c0161t0001g0172 a0001c0162t0001g0173 a0001c0163t0010g0174 a0001c0164t0005g0139 a0001c0165t0001g0056 a0001c0166t0001g0057 a0001c0167t0001g0058 a0001c0168t0001g0059 a0001c0169t0001g0060 a0001c0170t0001g0061 a0001c0171t0001g0062 a0001c0172t0001g0063 a0001c0173t0001g0064 a0001c0174t0001g0065 a0001c0175t0001g0066 a0001c0176t0001g0067 a0001c0177t0001g0068 a0001c0178t0001g0069 a0001c0179t0001g0070 a0001c0180t0001g0071 a0001c0181t0001g0072 a0001c0182t0003g0204 a0001c0183t0003g0187 a0001c0184t0004g0186 a0001c0185t0001g0073 a0001c0186t0002g0205 a0001c0187t0002g0206 a0001c0188t0002g0188 a0001c0189t0002g0189 a0001c0190t0002g0190 a0001c0191t0013g0191 a0001c0192t0002g0207 a0001c0193t0002g0208 a0001c0194t0002g0209 a0001c0195t0002g0210 a0001c0196t0002g0051 a0001c0197t0002g0211 a0001c0198t0002g0212 a0001c0199t0002g0238 a0001c0200t0002g0213 a0001c0201t0002g0214 a0001c0202t0002g0215 a0001c0203t0002g0050 a0001c0204t0002g0216 a0001c0205t0002g0217 a0001c0206t0009g0218 a0001c0207t0002g0219 a0001c0208t0002g0220 a0001c0209t0002g0221 a0001c0210t0018g0241 a0001c0211t0002g0222 a0001c0212t0002g0223 a0001c0213t0002g0224 a0001c0214t0002g0225 a0001c0215t0002g0202 a0001c0216t0002g0227 a0001c0217t0002g0228 a0001c0218t0002g0229 a0001c0219t0002g0230 a0001c0220t0002g0231 a0001c0221t0002g0232 a0001c0222t0002g0233 a0001c0223t0002g0234 a0001c0224t0002g0235 a0001c0225t0002g0236 a0001c0226t0002g0237 a0001c0227t0002g0203 a0001c0228t0005g0183 a0001c0229t0005g0184 a0001c0230t0008g0181 a0001c0231t0005g0185	382	418	0.9139	-1	c.1de others(2): Show c.1delA	p.Met others(3): Show p.Met1fs	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	2/3	77/9629	1/8553	1/2850		chr1	TogoVar
HSD17B13_chr4_87298794_87327882	87310240	T T	TA TA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01168.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02280.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA20752.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0010 a0001c0001 a0006c0008 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0241 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0353 a0001c0001t0002g0126 a0006c0008t0001g0082 a0006c0008t0001g0085 a0007c0010t0001g0036	96	442	0.2172	1	c.812 others(6): Show c.812+2dupT		HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	6/6					chr4	TogoVar
IDO2_chr8_39929651_40021392	40015416	T T	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show HG00280.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02683.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG06807.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0004 a0005c0005 a0003c0003 a0004c0004 a0005c0005	a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 others(14): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 a0003c0003t0020 a0003c0003t0022 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0009 a0004c0004t0010 a0004c0004t0021 a0005c0005t0002 a0005c0005t0003 a0005c0005t0005 a0005c0005t0009 a0005c0005t0010 a0005c0005t0019	a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 others(102): Show a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0033 a0003c0003t0002g0035 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0068 a0003c0003t0002g0073 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0078 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0003g0106 a0003c0003t0003g0121 a0003c0003t0003g0264 a0003c0003t0003g0265 a0003c0003t0003g0266 a0003c0003t0003g0275 a0003c0003t0003g0277 a0003c0003t0003g0278 a0003c0003t0003g0279 a0003c0003t0003g0283 a0003c0003t0003g0289 a0003c0003t0003g0293 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0303 a0003c0003t0003g0317 a0003c0003t0003g0321 a0003c0003t0003g0322 a0003c0003t0003g0337 a0003c0003t0003g0348 a0003c0003t0003g0349 a0003c0003t0003g0350 a0003c0003t0003g0357 a0003c0003t0010g0105 a0003c0003t0010g0183 a0003c0003t0010g0186 a0003c0003t0010g0225 a0003c0003t0010g0228 a0003c0003t0010g0231 a0003c0003t0010g0244 a0003c0003t0010g0246 a0003c0003t0020g0037 a0003c0003t0022g0072 a0004c0004t0002g0038 a0004c0004t0002g0054 a0004c0004t0002g0077 a0004c0004t0003g0122 a0004c0004t0003g0124 a0004c0004t0003g0125 a0004c0004t0003g0201 a0004c0004t0003g0203 a0004c0004t0003g0276 a0004c0004t0003g0280 a0004c0004t0003g0355 a0004c0004t0005g0104 a0004c0004t0009g0195 a0004c0004t0009g0260 a0004c0004t0009g0267 a0004c0004t0009g0270 a0004c0004t0010g0190 a0004c0004t0010g0213 a0004c0004t0010g0237 a0004c0004t0010g0238 a0004c0004t0021g0007 a0005c0005t0002g0001 a0005c0005t0002g0020 a0005c0005t0002g0028 a0005c0005t0002g0030 a0005c0005t0002g0039 a0005c0005t0002g0046 a0005c0005t0002g0062 a0005c0005t0002g0069 a0005c0005t0003g0151 a0005c0005t0003g0290 a0005c0005t0003g0310 a0005c0005t0003g0312 a0005c0005t0003g0346 a0005c0005t0005g0131 a0005c0005t0009g0194 a0005c0005t0010g0220 a0005c0005t0010g0221 a0005c0005t0010g0222 a0005c0005t0019g0082	106	360	0.2944	0	c.103 others(4): Show c.1038T>A	p.Tyr others(4): Show p.Tyr346*	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	11/11	1623/2599	1038/1224	346/407		chr8	TogoVar
IFNA10_chr9_21201181_21212143	21207038	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(9): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(13): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0004t0002 a0002c0005t0002 a0002c0006t0004 a0002c0007t0004 a0002c0009t0006 a0002c0010t0004 a0002c0013t0002 a0002c0015t0002 a0002c0016t0005 a0002c0017t0011	a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0002c0006t0004g0000 a0002c0007t0004g0000 a0002c0009t0006g0000 a0002c0010t0004g0000 a0002c0013t0002g0000 a0002c0015t0002g0000 a0002c0016t0005g0000 a0002c0017t0011g0000	194	457	0.4245	0	c.60T others(2): Show c.60T>A	p.Cys others(3): Show p.Cys20*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	106/963	60/570	20/189		chr9	TogoVar
IQSEC1_chr3_12892043_13078429	12901341	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG01978.hp1 HG01978.hp2 HG02027.hp1 others(14): Show HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG03927.hp1 HG03927.hp2 NA18956.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp2 NA18982.hp2 NA20300.hp2	a0000 a0000	a0000c0002 a0000c0015 a0000c0019 others(2): Show a0000c0002 a0000c0015 a0000c0019 a0000c0023 a0000c0029	a0000c0002t0001 a0000c0002t0002 a0000c0002t0005 others(8): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0005 a0000c0002t0009 a0000c0002t0010 a0000c0002t0052 a0000c0002t0062 a0000c0015t0002 a0000c0019t0070 a0000c0023t0003 a0000c0029t0056	a0000c0002t0001g0084 a0000c0002t0001g0087 a0000c0002t0001g0090 others(14): Show a0000c0002t0001g0084 a0000c0002t0001g0087 a0000c0002t0001g0090 a0000c0002t0001g0104 a0000c0002t0001g0140 a0000c0002t0001g0180 a0000c0002t0002g0014 a0000c0002t0002g0158 a0000c0002t0005g0085 a0000c0002t0009g0197 a0000c0002t0010g0095 a0000c0002t0052g0044 a0000c0002t0062g0203 a0000c0015t0002g0112 a0000c0019t0070g0229 a0000c0023t0003g0151 a0000c0029t0056g0053	17	250	0.0680	1	c.298 others(5): Show c.2986dupC	p.His others(5): Show p.His996fs	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	14/14	3401/7700	2986/3345	996/1114		chr3	TogoVar
JMJD8_chr16_676670_689334	683719	C C	CCGGACCA others(13): Show CCGGACCACTCTGTCCCCAAA	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA18979.hp2 NA18974.hp2 NA18979.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0017 a0004c0008t0001g0017	2	364	0.0055	20	c.268 others(27): Show c.268_287dupTTTGGGGACAGAGTGGTCCG	p.Ser others(4): Show p.Ser98fs	JMJD8	ENSG00000161999.13	transcript	ENST00000609261.6	protein_coding	4/9	302/1934	287/795	96/264		chr16	TogoVar
KCNN1_chr19_17962107_18005085	17998301	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG01952.hp2 HG03669.hp1 others(6): Show HG01192.hp1 HG01952.hp2 HG03669.hp1 HG04204.hp1 NA18979.hp1 NA18979.hp2 NA18993.hp2 NA19060.hp1 NA20300.hp1	a0000 a0000	a0000c0002 a0000c0009 a0000c0002 a0000c0009	a0000c0002t0001 a0000c0002t0002 a0000c0002t0007 others(1): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0007 a0000c0009t0002	a0000c0002t0001g0027 a0000c0002t0001g0198 a0000c0002t0001g0358 others(6): Show a0000c0002t0001g0027 a0000c0002t0001g0198 a0000c0002t0001g0358 a0000c0002t0002g0170 a0000c0002t0002g0173 a0000c0002t0002g0216 a0000c0002t0002g0277 a0000c0002t0007g0137 a0000c0009t0002g0224	9	378	0.0238	1	c.153 others(5): Show c.1532dupC	p.Pro others(5): Show p.Pro512fs	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding	10/10	1825/3603	1533/1632	511/543	INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4A_chr1_43645149_43710518	43660291	CA CA	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0002g0019 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0284 a0001c0001t0003g0242 a0001c0001t0003g0288 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0105 a0001c0001t0007g0276 a0001c0003t0001g0287 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0328 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026 a0001c0005t0001g0027 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0010t0001g0022 a0003c0004t0001g0263 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0270	191	370	0.5162	-1	c.315 others(6): Show c.315-2delA		KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding	3/21				INFO_REALIGN_3_PRIME	chr1	TogoVar
KDM6B_chr17_7829217_7859796	7847818	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00558.hp2 HG00597.hp1 others(26): Show HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00741.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01496.hp2 HG01517.hp1 HG01928.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG04115.hp2 HG04204.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18977.hp1 NA18979.hp1 NA19060.hp1 NA19082.hp1 NA19083.hp2	a0005 a0009 a0016 others(8): Show a0005 a0009 a0016 a0019 a0029 a0030 a0031 a0032 a0039 a0040 a0048	a0005c0014 a0005c0019 a0005c0049 others(17): Show a0005c0014 a0005c0019 a0005c0049 a0005c0050 a0005c0051 a0005c0052 a0005c0061 a0005c0062 a0009c0045 a0009c0057 a0016c0035 a0019c0025 a0019c0044 a0029c0090 a0030c0089 a0031c0088 a0032c0086 a0039c0078 a0040c0075 a0048c0066	a0005c0014t0001 a0005c0019t0003 a0005c0019t0004 others(19): Show a0005c0014t0001 a0005c0019t0003 a0005c0019t0004 a0005c0019t0026 a0005c0049t0001 a0005c0050t0001 a0005c0051t0009 a0005c0052t0006 a0005c0061t0002 a0005c0062t0003 a0009c0045t0001 a0009c0057t0025 a0016c0035t0001 a0019c0025t0001 a0019c0044t0002 a0029c0090t0001 a0030c0089t0001 a0031c0088t0001 a0032c0086t0001 a0039c0078t0001 a0040c0075t0001 a0048c0066t0003	a0005c0014t0001g0104 a0005c0014t0001g0277 a0005c0014t0001g0299 others(26): Show a0005c0014t0001g0104 a0005c0014t0001g0277 a0005c0014t0001g0299 a0005c0014t0001g0300 a0005c0014t0001g0304 a0005c0019t0003g0209 a0005c0019t0004g0220 a0005c0019t0004g0229 a0005c0019t0026g0011 a0005c0049t0001g0274 a0005c0050t0001g0191 a0005c0051t0009g0038 a0005c0052t0006g0267 a0005c0061t0002g0163 a0005c0062t0003g0214 a0009c0045t0001g0278 a0009c0057t0025g0249 a0016c0035t0001g0063 a0016c0035t0001g0068 a0019c0025t0001g0101 a0019c0025t0001g0310 a0019c0044t0002g0022 a0029c0090t0001g0020 a0030c0089t0001g0020 a0031c0088t0001g0116 a0032c0086t0001g0127 a0039c0078t0001g0073 a0040c0075t0001g0097 a0048c0066t0003g0181	29	388	0.0747	1	c.153 others(5): Show c.1537dupC	p.Arg others(5): Show p.Arg513fs	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	12/24	2059/6728	1538/4932	513/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7849177	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG04115.hp2 HG04204.hp1 HG04204.hp2 others(4): Show HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18949.hp2 NA18977.hp1 NA18979.hp2 NA19010.hp2	a0005 a0023 a0040 others(2): Show a0005 a0023 a0040 a0041 a0046	a0005c0049 a0005c0061 a0023c0027 others(3): Show a0005c0049 a0005c0061 a0023c0027 a0040c0075 a0041c0070 a0046c0064	a0005c0049t0001 a0005c0061t0002 a0023c0027t0002 others(3): Show a0005c0049t0001 a0005c0061t0002 a0023c0027t0002 a0040c0075t0001 a0041c0070t0003 a0046c0064t0002	a0005c0049t0001g0274 a0005c0061t0002g0163 a0023c0027t0002g0153 others(4): Show a0005c0049t0001g0274 a0005c0061t0002g0163 a0023c0027t0002g0153 a0023c0027t0002g0155 a0040c0075t0001g0097 a0041c0070t0003g0206 a0046c0064t0002g0023	7	388	0.0180	1	c.289 others(5): Show c.2893dupG	p.Val others(5): Show p.Val965fs	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	12/24	3415/6728	2894/4932	965/1643	INFO_REALIGN_3_PRIME	chr17	TogoVar

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