Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHDH_chr3_53807335_53851419	53830402	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0164 a0002c0002t0164	a0002c0002t0164g0328 a0002c0002t0164g0328	1	392	0.0026	10	c.-59 others(27): Show c.-59-6345_-59-6336dupTATATATATA	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	2/8			chr3	TogoVar
CHEK1_chr11_125620163_125662147	125657187	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG02055.hp1 others(15): Show HG00438.hp1 HG00642.hp1 HG02055.hp1 HG02258.hp2 HG02717.hp1 HG03098.hp2 HG03139.hp2 HG06807.hp2 NA18522.hp2 NA18962.hp1 NA18963.hp1 NA18969.hp1 NA18971.hp2 NA18998.hp1 NA19003.hp1 NA19011.hp1 NA19078.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0172 a0001c0001t0001g0207 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0172 a0001c0001t0001g0207 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0246	18	384	0.0469	10	c.18 others(21): Show c.1867_*1868insTGTGTGTGTG	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding		41		chr11	TogoVar
CHEK2_chr22_28682743_28746820	28689715	C C	CTGGATAC others(3): Show CTGGATACTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	384	0.0026	10	c.146 others(27): Show c.1462-501_1462-500insACAGTATCCA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	13/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02602.hp2 HG01891.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0334 a0001c0001t0001g0155 a0001c0001t0001g0334	2	384	0.0052	10	c.100 others(29): Show c.1009-1251_1009-1242dupTTTTTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28701192	T T	TGTGATCA others(3): Show TGTGATCAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp1 HG01099.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0089 a0001c0001t0001g0090	2	384	0.0052	10	c.909 others(27): Show c.909-1265_909-1256dupCCCTGATCAC	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	8/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28702135	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(71): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01168.hp2 HG01257.hp1 HG01433.hp2 HG01515.hp2 HG01978.hp2 HG02004.hp1 HG02071.hp2 HG02135.hp1 HG02257.hp1 HG02486.hp2 HG02572.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02965.hp2 HG03017.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0104 a0001c0001t0001g0105 others(71): Show a0001c0001t0001g0011 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0001g0322 a0001c0001t0001g0328 a0001c0001t0001g0341 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0357 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0002t0001g0344 a0001c0004t0001g0270	74	384	0.1927	10	c.908 others(27): Show c.908+1360_908+1369dupCACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	8/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28705968	A A	AAAACTAA others(3): Show AAAACTAAACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(161): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0002c0011t0001 a0007c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(160): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0281 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0003g0103 a0001c0002t0001g0344 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0369 a0001c0002t0001g0370 a0001c0003t0001g0051 a0001c0003t0001g0076 a0002c0011t0001g0038 a0007c0010t0001g0375	164	384	0.4271	10	c.847 others(27): Show c.847-2412_847-2403dupAGTTTAGTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28708361	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00738.hp1 others(16): Show HG00140.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01515.hp2 HG02015.hp1 HG03492.hp1 HG03831.hp1 HG04115.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18959.hp1 NA18967.hp1 NA18993.hp1 NA19006.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0117 others(16): Show a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0281 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0352	19	384	0.0495	10	c.846 others(27): Show c.846+1644_846+1645insCACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28708363	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00741.hp2 others(18): Show HG00099.hp1 HG00408.hp1 HG00741.hp2 HG01081.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02273.hp1 HG02630.hp1 HG02630.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03453.hp1 HG04228.hp2 HG06807.hp1 NA18981.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0037 others(18): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0338	21	384	0.0547	10	c.846 others(27): Show c.846+1633_846+1642dupCACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28708369	G G	GTGTGTGT others(3): Show GTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01071.hp2 others(34): Show HG00323.hp1 HG00558.hp1 HG01071.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG02258.hp1 HG02683.hp2 HG02970.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03834.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18955.hp2 NA18960.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18992.hp1 NA18998.hp2 NA19006.hp2 NA19011.hp1 NA19057.hp1 NA19060.hp1 NA19068.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0005 a0001c0001 a0008c0005	a0001c0001t0001 a0008c0005t0001 a0001c0001t0001 a0008c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0017 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0345 a0008c0005t0001g0220	37	384	0.0964	10	c.846 others(27): Show c.846+1636_846+1637insGACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28718883	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	384	0.0026	10	c.683 others(25): Show c.683+502_683+511dupGTGTGTGTGT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	5/14			chr22	TogoVar
CHERP_chr19_16512894_16547437	16534319	G G	GGATTATA others(3): Show GGATTATAGGC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	330	0.0030	10	c.384 others(27): Show c.384+1123_384+1132dupGCCTATAATC	CHERP	ENSG00000085872.15	transcript	ENST00000546361.7	protein_coding	3/16			chr19	TogoVar
CHFR_chr12_132827356_132892605	132850964	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0075 a0001c0005t0075	a0001c0005t0075g0172 a0001c0005t0075g0172	1	378	0.0027	10	c.149 others(27): Show c.1492+644_1492+653dupATATATATAT	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	12/17			chr12	TogoVar
CHGA_chr14_92918150_92940285	92920654	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02080.hp1 HG02602.hp1 others(7): Show HG00621.hp2 HG02080.hp1 HG02602.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG04199.hp1 NA18998.hp1 NA19030.hp2 NA19079.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0082 a0004c0006t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0082 a0004c0006t0001g0001	10	447	0.0224	10	c.-27 others(21): Show c.-2706_-2705insAAAAAAAAAA	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding		2495		chr14	TogoVar
CHGB_chr20_5906510_5930353	5910014	T T	TAATACAA others(3): Show TAATACAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01993.hp1 HG03139.hp2 others(2): Show HG01109.hp1 HG01993.hp1 HG03139.hp2 HG04184.hp1 NA19084.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0009	a0002c0002 a0003c0003 a0004c0004 others(2): Show a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0009c0009	a0002c0002t0002 a0003c0003t0003 a0004c0004t0001 others(2): Show a0002c0002t0002 a0003c0003t0003 a0004c0004t0001 a0005c0005t0001 a0009c0009t0001	a0002c0002t0002g0007 a0003c0003t0003g0016 a0004c0004t0001g0160 others(2): Show a0002c0002t0002g0007 a0003c0003t0003g0016 a0004c0004t0001g0160 a0005c0005t0001g0005 a0009c0009t0001g0018	5	440	0.0114	10	c.-16 others(21): Show c.-1620_-1619insAATACAATAC	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		1495		chr20	TogoVar
CHGB_chr20_5906510_5930353	5910069	C C	CAATACAA others(3): Show CAATACAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG01243.hp1 HG02145.hp1	a0007 a0011 a0007 a0011	a0007c0007 a0011c0011 a0007c0007 a0011c0011	a0007c0007t0001 a0011c0011t0001 a0007c0007t0001 a0011c0011t0001	a0007c0007t0001g0159 a0011c0011t0001g0058 a0007c0007t0001g0159 a0011c0011t0001g0058	2	440	0.0046	10	c.-15 others(21): Show c.-1565_-1564insAATACAATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		1440		chr20	TogoVar
CHGB_chr20_5906510_5930353	5926118	T T	TAGAGAGA others(3): Show TAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	440	0.0023	10	c.10 others(21): Show c.1069_*1070insAGAGAGAGAG	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		766		chr20	TogoVar
CHI3L2_chr1_111222713_111248440	111229681	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG02602.hp1 others(9): Show HG00099.hp1 HG00733.hp1 HG02602.hp1 HG02602.hp2 HG03490.hp1 HG03669.hp2 HG04204.hp1 NA18522.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0009 a0003c0005t0001g0067 a0003c0005t0001g0068 others(1): Show a0003c0005t0001g0009 a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0097	12	434	0.0277	10	c.41- others(23): Show c.41-156_41-147dupAAAAAAAAAA	CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHIA_chr1_111285851_111325563	111310438	A A	AGCCAATC others(3): Show AGCCAATCTAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01081.hp2 others(35): Show HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01952.hp2 HG01981.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp2 NA18906.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0004 a0010 a0011 a0004 a0010 a0011	a0004c0004 a0004c0007 a0004c0022 others(2): Show a0004c0004 a0004c0007 a0004c0022 a0010c0012 a0011c0016	a0004c0004t0003 a0004c0004t0004 a0004c0007t0003 others(4): Show a0004c0004t0003 a0004c0004t0004 a0004c0007t0003 a0004c0007t0004 a0004c0022t0003 a0010c0012t0003 a0011c0016t0004	a0004c0004t0003g0013 a0004c0004t0003g0032 a0004c0004t0003g0059 others(27): Show a0004c0004t0003g0013 a0004c0004t0003g0032 a0004c0004t0003g0059 a0004c0004t0003g0087 a0004c0004t0003g0093 a0004c0004t0003g0095 a0004c0004t0003g0102 a0004c0004t0003g0108 a0004c0004t0003g0116 a0004c0004t0003g0117 a0004c0004t0003g0121 a0004c0004t0003g0127 a0004c0004t0003g0132 a0004c0004t0003g0270 a0004c0004t0004g0044 a0004c0004t0004g0166 a0004c0004t0004g0211 a0004c0007t0003g0015 a0004c0007t0003g0029 a0004c0007t0003g0082 a0004c0007t0003g0107 a0004c0007t0004g0154 a0004c0007t0004g0157 a0004c0007t0004g0179 a0004c0022t0003g0015 a0010c0012t0003g0133 a0010c0012t0003g0134 a0010c0012t0003g0136 a0011c0016t0004g0159 a0011c0016t0004g0183	38	426	0.0892	10	c.-28 others(17): Show c.-28_-27insCAATCTAGGC	CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding	2/12	27	INFO_REALIGN_3_PRIME	chr1	TogoVar
CHIC1_chrX_73558197_73692111	73594142	C C	CTTTGTTT others(3): Show CTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01258.hp1 HG01884.hp2 others(59): Show HG00673.hp1 HG01258.hp1 HG01884.hp2 HG01975.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02273.hp2 HG02615.hp2 HG02809.hp1 HG03225.hp1 HG03704.hp1 HG03831.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19086.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020	a0001c0001t0001g0029 a0001c0001t0001g0101 a0001c0001t0001g0102 others(59): Show a0001c0001t0001g0029 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0009g0130 a0001c0001t0013g0150 a0001c0001t0014g0031 a0001c0001t0016g0156 a0001c0001t0020g0159	62	208	0.2981	10	c.507 others(27): Show c.507+9607_507+9616dupTTGTTTTGTT	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIC2_chr4_54004789_54069605	54030561	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(121): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18953.hp2 NA18955.hp1 NA18966.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19003.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19076.hp2 NA19080.hp2 NA19084.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(106): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0005g0152 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0008g0019 a0001c0001t0009g0117 a0001c0001t0010g0049 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0005g0214	124	244	0.5082	10	c.331 others(29): Show c.331-16443_331-16442insATGTGTGTGT	CHIC2	ENSG00000109220.11	transcript	ENST00000263921.8	protein_coding	3/5			chr4	TogoVar
CHIC2_chr4_54004789_54069605	54058549	T T	TACACACA others(3): Show TACACACATAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04199.hp2 HG02735.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0067 a0001c0001t0002g0068	2	244	0.0082	10	c.119 others(27): Show c.119+5632_119+5633insGTATGTGTGT	CHIC2	ENSG00000109220.11	transcript	ENST00000263921.8	protein_coding	1/5			chr4	TogoVar
CHIT1_chr1_203211079_203234673	203214835	A A	AAAAACAA others(3): Show AAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(101): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18984.hp2 NA19003.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19064.hp2 NA19082.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0011	a0002c0002 a0003c0003 a0007c0007 others(2): Show a0002c0002 a0003c0003 a0007c0007 a0007c0023 a0011c0010	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0003c0003t0001 a0003c0003t0002 a0007c0007t0002 a0007c0023t0002 a0011c0010t0001	a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0015 others(33): Show a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0032 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0094 a0002c0002t0001g0108 a0002c0002t0001g0118 a0002c0002t0001g0132 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0148 a0002c0002t0001g0155 a0002c0002t0002g0018 a0002c0002t0002g0045 a0002c0002t0002g0084 a0002c0002t0002g0091 a0002c0002t0006g0078 a0003c0003t0001g0005 a0003c0003t0001g0053 a0003c0003t0001g0072 a0003c0003t0002g0121 a0007c0007t0002g0021 a0007c0007t0002g0023 a0007c0007t0002g0073 a0007c0007t0002g0092 a0007c0023t0002g0059 a0011c0010t0001g0035	104	484	0.2149	10	c.20 others(21): Show c.2044_*2053dupGTTTTGTTTT	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding		1243		chr1	TogoVar
CHKA_chr11_68047859_68126388	68084319	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0011g0154 a0001c0001t0011g0155	2	276	0.0073	10	c.463 others(27): Show c.463-2872_463-2863dupGTGTATATAT	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding	2/11			chr11	TogoVar
CHKA_chr11_68047859_68126388	68113081	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	276	0.0036	10	c.350 others(27): Show c.350+7737_350+7746dupTTTTTTTTTT	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding	1/11			chr11	TogoVar
CHKA_chr11_68047859_68126388	68125912	G G	GCACACAC others(3): Show GCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02055.hp1 HG01516.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0243 a0001c0001t0001g0196 a0001c0001t0001g0243	2	276	0.0073	10	c.-47 others(21): Show c.-4736_-4735insTGTGTGTGTG	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding		4525		chr11	TogoVar
CHKA_chr11_68047859_68126388	68125914	G G	GCACACAC others(3): Show GCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG03516.hp1 HG02145.hp1 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017	a0001c0001t0002g0125 a0001c0001t0003g0117 a0001c0001t0017g0134 a0001c0001t0002g0125 a0001c0001t0003g0117 a0001c0001t0017g0134	3	276	0.0109	10	c.-47 others(21): Show c.-4738_-4737insTGTGTGTGTG	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding		4527		chr11	TogoVar
CHL1_chr3_191763_414417	226374	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19043.hp1 HG04115.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0258 a0001c0001t0003g0229 a0001c0001t0003g0258	2	290	0.0069	10	c.-17 others(31): Show c.-174-18236_-174-18227dupTATATATATA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	252361	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	290	0.0035	10	c.-95 others(27): Show c.-95+7700_-95+7709dupATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	259332	G G	GTGTGTGT others(3): Show GTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02630.hp1 others(14): Show HG01243.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0011 a0020	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0008 a0007c0006 a0008c0007 a0011c0011 a0020c0023	a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 others(14): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0002c0002t0002 a0002c0002t0004 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0027 a0004c0004t0006 a0004c0004t0030 a0006c0008t0012 a0007c0006t0051 a0008c0007t0001 a0008c0007t0012 a0011c0011t0002 a0020c0023t0017	a0001c0001t0006g0097 a0001c0001t0016g0100 a0001c0001t0018g0264 others(14): Show a0001c0001t0006g0097 a0001c0001t0016g0100 a0001c0001t0018g0264 a0002c0002t0002g0250 a0002c0002t0004g0010 a0003c0003t0003g0014 a0003c0003t0004g0009 a0003c0003t0006g0107 a0003c0003t0027g0087 a0004c0004t0006g0088 a0004c0004t0030g0099 a0006c0008t0012g0094 a0007c0006t0051g0147 a0008c0007t0001g0289 a0008c0007t0012g0101 a0011c0011t0002g0098 a0020c0023t0017g0287	17	290	0.0586	10	c.-95 others(29): Show c.-95+14646_-95+14647insTGTTTGTGTG	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	314323	C C	CTCTCTAT others(3): Show CTCTCTATGTA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0234 a0013c0021t0001g0234	1	290	0.0035	10	c.-94 others(27): Show c.-94-5359_-94-5358insCTCTATGTAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	314329	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG02698.hp1 others(8): Show HG01109.hp2 HG02451.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG02897.hp2 HG03239.hp2 HG03540.hp2 HG03710.hp2 NA19062.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0002 a0003c0003t0007 a0006c0008t0012	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0093 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0093 a0001c0001t0001g0132 a0001c0001t0001g0282 a0001c0001t0002g0039 a0001c0001t0010g0194 a0002c0002t0002g0123 a0003c0003t0007g0239 a0003c0003t0007g0247 a0006c0008t0012g0094	11	290	0.0379	10	c.-94 others(27): Show c.-94-5322_-94-5313dupATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	333124	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02647.hp1 others(1): Show HG01243.hp1 HG02257.hp1 HG02647.hp1 HG03139.hp1	a0002 a0004 a0025 a0002 a0004 a0025	a0002c0002 a0004c0004 a0025c0013 a0002c0002 a0004c0004 a0025c0013	a0002c0002t0004 a0004c0004t0003 a0004c0004t0008 others(1): Show a0002c0002t0004 a0004c0004t0003 a0004c0004t0008 a0025c0013t0020	a0002c0002t0004g0010 a0004c0004t0003g0041 a0004c0004t0008g0236 others(1): Show a0002c0002t0004g0010 a0004c0004t0003g0041 a0004c0004t0008g0236 a0025c0013t0020g0031	4	290	0.0138	10	c.385 others(27): Show c.385+4778_385+4779insTTTTTTTTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	392960	A A	ATCGAGTA others(3): Show ATCGAGTATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.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 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0012 a0013 a0015 a0016 a0021 a0022 a0023 a0024	a0001c0001 a0002c0002 a0002c0028 others(13): Show a0001c0001 a0002c0002 a0002c0028 a0003c0003 a0004c0004 a0005c0005 a0009c0010 a0010c0009 a0012c0012 a0013c0021 a0015c0029 a0016c0026 a0021c0015 a0022c0017 a0023c0018 a0024c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0052 a0001c0001t0057 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0002t0023 a0002c0002t0026 a0002c0002t0041 a0002c0028t0009 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0011 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0030 a0004c0004t0049 a0005c0005t0001 a0005c0005t0003 a0005c0005t0055 a0009c0010t0001 a0009c0010t0002 a0009c0010t0048 a0010c0009t0047 a0012c0012t0001 a0013c0021t0001 a0015c0029t0038 a0016c0026t0002 a0021c0015t0001 a0022c0017t0015 a0023c0018t0001 a0024c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(231): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0093 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0032 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0119 a0001c0001t0002g0168 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0230 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0210 a0001c0001t0003g0229 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0276 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0160 a0001c0001t0005g0242 a0001c0001t0006g0097 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0010g0033 a0001c0001t0010g0066 a0001c0001t0010g0194 a0001c0001t0015g0120 a0001c0001t0018g0246 a0001c0001t0018g0264 a0001c0001t0021g0179 a0001c0001t0021g0218 a0001c0001t0022g0131 a0001c0001t0022g0266 a0001c0001t0025g0103 a0001c0001t0028g0232 a0001c0001t0031g0086 a0001c0001t0033g0113 a0001c0001t0037g0238 a0001c0001t0039g0181 a0001c0001t0040g0162 a0001c0001t0042g0159 a0001c0001t0043g0166 a0001c0001t0044g0149 a0001c0001t0052g0111 a0001c0001t0057g0251 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0056 a0002c0002t0001g0072 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0150 a0002c0002t0001g0164 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0222 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0286 a0002c0002t0002g0013 a0002c0002t0002g0049 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0095 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0002g0250 a0002c0002t0003g0001 a0002c0002t0003g0048 a0002c0002t0003g0256 a0002c0002t0004g0008 a0002c0002t0014g0104 a0002c0002t0014g0105 a0002c0002t0023g0145 a0002c0002t0026g0050 a0002c0002t0041g0280 a0002c0028t0009g0085 a0003c0003t0001g0106 a0003c0003t0001g0109 a0003c0003t0001g0219 a0003c0003t0001g0249 a0003c0003t0002g0096 a0003c0003t0002g0102 a0003c0003t0003g0014 a0003c0003t0004g0281 a0003c0003t0004g0284 a0003c0003t0006g0107 a0003c0003t0011g0143 a0003c0003t0011g0225 a0004c0004t0001g0288 a0004c0004t0002g0090 a0004c0004t0003g0041 a0004c0004t0030g0099 a0004c0004t0049g0012 a0005c0005t0001g0156 a0005c0005t0003g0209 a0005c0005t0003g0257 a0005c0005t0003g0261 a0005c0005t0055g0259 a0009c0010t0001g0047 a0009c0010t0002g0035 a0009c0010t0048g0211 a0010c0009t0047g0011 a0012c0012t0001g0122 a0012c0012t0001g0141 a0013c0021t0001g0234 a0015c0029t0038g0163 a0016c0026t0002g0052 a0021c0015t0001g0190 a0022c0017t0015g0034 a0023c0018t0001g0193 a0024c0016t0001g0027	234	290	0.8069	10	c.291 others(29): Show c.2914+1165_2914+1166insGAGTATACTC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	393232	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03927.hp1 HG03540.hp1 HG03927.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0011 a0001c0001t0001 a0003c0003t0011	a0001c0001t0001g0171 a0003c0003t0011g0225 a0001c0001t0001g0171 a0003c0003t0011g0225	2	290	0.0069	10	c.291 others(29): Show c.2914+1441_2915-1446dupAAAAAAAAAA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP1B_chr18_11846413_11859444	11846464	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(36): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02602.hp1 HG03017.hp1 HG03453.hp1 HG03490.hp1 NA18950.hp2 NA18952.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18977.hp2 NA18979.hp1 NA18990.hp2 NA18992.hp1 NA19000.hp2 NA19006.hp1 NA19010.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp2 NA19078.hp2 NA19085.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0007g0000 others(2): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0007g0000 a0001c0001t0011g0000 a0001c0001t0016g0000	39	438	0.0890	10	c.-50 others(21): Show c.-5048_-5047insACACACACAC	CHMP1B	ENSG00000255112.3	transcript	ENST00000526991.3	protein_coding		4948		chr18	TogoVar
CHMP1B_chr18_11846413_11859444	11846464	T T	TATACACA others(3): Show TATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG03491.hp2 NA18953.hp2 others(5): Show HG02300.hp1 HG03491.hp2 NA18953.hp2 NA18975.hp1 NA18983.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0010g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0010g0000	8	438	0.0183	10	c.-50 others(21): Show c.-5048_-5047insATACACACAC	CHMP1B	ENSG00000255112.3	transcript	ENST00000526991.3	protein_coding		4948		chr18	TogoVar
CHMP3_chr2_86498430_86568443	86554814	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01175.hp2 others(6): Show HG00099.hp2 HG00642.hp2 HG01175.hp2 HG02738.hp2 HG03654.hp2 HG03710.hp2 NA18946.hp1 NA19062.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0198 others(6): Show a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0009g0190 a0001c0001t0019g0254 a0001c0001t0020g0265	9	336	0.0268	10	c.45+ others(25): Show c.45+8489_45+8490insACACACACAC	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHMP6_chr17_80986841_81005133	80988884	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00673.hp2 others(33): Show HG00438.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01081.hp1 HG01168.hp1 HG01358.hp1 HG01928.hp2 HG01934.hp1 HG02109.hp1 HG02132.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02897.hp2 HG03490.hp2 HG03540.hp1 HG03831.hp2 NA18612.hp2 NA18957.hp1 NA18969.hp2 NA18982.hp1 NA19004.hp1 NA19006.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0007t0002	a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0016 others(13): Show a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0004g0001 a0001c0001t0004g0008 a0001c0001t0004g0053 a0001c0001t0011g0001 a0001c0001t0014g0001 a0001c0001t0016g0014 a0001c0001t0020g0001 a0001c0001t0021g0001 a0001c0007t0002g0059	36	438	0.0822	10	c.-30 others(21): Show c.-3035_-3034insGTGTGTGTGT	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		2956		chr17	TogoVar
CHMP6_chr17_80986841_81005133	81005029	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02622.hp1 HG02647.hp1 others(2): Show HG01255.hp2 HG02622.hp1 HG02647.hp1 NA18522.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0003g0007 a0001c0001t0003g0095 others(1): Show a0001c0001t0001g0002 a0001c0001t0003g0007 a0001c0001t0003g0095 a0001c0001t0005g0019	5	438	0.0114	10	c.58 others(21): Show c.5876_*5877insTGTGTGTGTG	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		4897		chr17	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0097 a0001c0001t0016g0097	1	438	0.0023	10	c.-29 others(21): Show c.-2918_-2917insTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHMP7_chr8_23238637_23266999	23264115	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG01081.hp1 others(27): Show HG00609.hp2 HG00735.hp1 HG01081.hp1 HG01358.hp1 HG01496.hp1 HG01981.hp2 HG01993.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp2 HG03225.hp1 HG03239.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18940.hp2 NA18952.hp1 NA18982.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19075.hp2 NA19077.hp1 NA19080.hp2 NA19090.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0007 a0001c0001 a0001c0003 a0004c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0026 a0001c0003t0001 a0004c0007t0002	a0001c0001t0002g0006 a0001c0001t0002g0052 a0001c0001t0002g0247 others(25): Show a0001c0001t0002g0006 a0001c0001t0002g0052 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0263 a0001c0001t0002g0279 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0003g0012 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0004g0219 a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0280 a0001c0001t0005g0310 a0001c0001t0005g0327 a0001c0001t0008g0272 a0001c0001t0012g0240 a0001c0001t0026g0316 a0001c0003t0001g0013 a0004c0007t0002g0312	30	438	0.0685	10	c.35 others(21): Show c.3516_*3517insTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2117		chr8	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02135.hp1 HG02280.hp2 others(4): Show HG01891.hp2 HG02135.hp1 HG02280.hp2 HG02896.hp1 NA18973.hp2 NA18999.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0003t0005 a0002c0005t0011	a0001c0001t0005g0136 a0001c0001t0009g0199 a0001c0001t0011g0219 others(4): Show a0001c0001t0005g0136 a0001c0001t0009g0199 a0001c0001t0011g0219 a0001c0003t0005g0118 a0001c0003t0005g0126 a0001c0003t0005g0227 a0002c0005t0011g0229	7	245	0.0286	10	c.83 others(21): Show c.8340_*8341insTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85911129	G G	GTGTGTGT others(3): Show GTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 NA18940.hp1 others(9): Show HG01099.hp1 HG01168.hp2 NA18940.hp1 NA18949.hp2 NA18969.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 others(9): Show a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0002g0063 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0073	12	245	0.0490	10	c.124 others(27): Show c.1244+131_1244+132insTATACACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911190	T T	TATATATA others(3): Show TATATATATGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp2 HG02451.hp2 HG03041.hp2	a0003 a0008 a0003 a0008	a0003c0004 a0008c0011 a0003c0004 a0008c0011	a0003c0004t0014 a0008c0011t0006 a0003c0004t0014 a0008c0011t0006	a0003c0004t0014g0234 a0008c0011t0006g0230 a0003c0004t0014g0234 a0008c0011t0006g0230	2	245	0.0082	10	c.124 others(25): Show c.1244+70_1244+71insTCATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913328	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	245	0.0041	10	c.116 others(29): Show c.1167-1991_1167-1990insCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAAGA others(3): Show AAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0102 a0001c0001t0013g0102	1	245	0.0041	10	c.116 others(29): Show c.1167-1995_1167-1994insCTTTCTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01257.hp2 others(2): Show HG00099.hp2 HG00639.hp2 HG01257.hp2 HG02055.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0094 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0177 a0001c0001t0001g0243	5	245	0.0204	10	c.116 others(29): Show c.1167-1995_1167-1994insCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02258.hp1 HG02015.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0159 a0001c0001t0007g0079 a0001c0001t0003g0159 a0001c0001t0007g0079	2	245	0.0082	10	c.116 others(29): Show c.1166+6165_1166+6174dupATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85973300	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	245	0.0041	10	c.314 others(27): Show c.314+5457_314+5466dupTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	4/14			chrX	TogoVar

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