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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CPS1_chr2_210551599_210684107	210595589	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0017 a0003c0003t0002g0017	1	340	0.0029	0	c.135 others(6): Show c.1359+7G>A		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	13/37					chr2	TogoVar
CPS1_chr2_210551599_210684107	210602333	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0319 a0002c0002t0002g0319	1	340	0.0029	0	c.183 others(6): Show c.1836+3A>G		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	16/37					chr2	TogoVar
CPS1_chr2_210551599_210684107	210612119	C C	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02572.hp2 HG02647.hp2 HG02922.hp1 others(1): Show HG02572.hp2 HG02647.hp2 HG02922.hp1 HG03209.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0006 a0002c0009t0007 a0002c0009t0003 a0002c0009t0006 a0002c0009t0007	a0002c0009t0003g0155 a0002c0009t0006g0071 a0002c0009t0006g0072 others(1): Show a0002c0009t0003g0155 a0002c0009t0006g0071 a0002c0009t0006g0072 a0002c0009t0007g0069	4	340	0.0118	0	c.239 others(4): Show c.2394C>A	p.Val others(6): Show p.Val798Val	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	20/38	2529/5760	2394/4503	798/1500		chr2	TogoVar
CPS1_chr2_210551599_210684107	210654017	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0050 a0003c0003t0004g0050	1	340	0.0029	0	c.348 others(6): Show c.3481-8C>T		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	28/37					chr2	TogoVar
CPS1_chr2_210551599_210684107	210654018	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp2 HG03834.hp2 HG02738.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0006 a0002c0002t0015 a0001c0006t0006 a0002c0002t0015	a0001c0006t0006g0276 a0002c0002t0015g0084 a0001c0006t0006g0276 a0002c0002t0015g0084	2	340	0.0059	0	c.348 others(6): Show c.3481-7G>A		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	28/37					chr2	TogoVar
CPS1_chr2_210551599_210684107	210656503	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(327): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.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 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.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 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0006 a0001c0024 others(29): Show a0001c0001 a0001c0006 a0001c0024 a0001c0028 a0001c0029 a0002c0002 a0002c0005 a0002c0009 a0002c0013 a0002c0021 a0003c0003 a0003c0008 a0003c0018 a0003c0025 a0004c0004 a0004c0007 a0005c0011 a0006c0010 a0007c0014 a0008c0015 a0009c0030 a0009c0032 a0010c0012 a0011c0017 a0012c0027 a0013c0026 a0014c0031 a0015c0022 a0016c0023 a0017c0020 a0018c0019 a0019c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(77): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0024t0017 a0001c0028t0024 a0001c0029t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0002t0021 a0002c0002t0022 a0002c0005t0001 a0002c0005t0003 a0002c0005t0006 a0002c0005t0008 a0002c0005t0012 a0002c0009t0003 a0002c0009t0006 a0002c0009t0007 a0002c0013t0007 a0002c0021t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0027 a0003c0008t0004 a0003c0008t0005 a0003c0018t0002 a0003c0025t0004 a0004c0004t0002 a0004c0004t0004 a0004c0004t0005 a0004c0007t0001 a0004c0007t0004 a0004c0007t0005 a0005c0011t0001 a0006c0010t0008 a0006c0010t0010 a0006c0010t0014 a0007c0014t0007 a0008c0015t0011 a0008c0015t0020 a0009c0030t0007 a0009c0032t0026 a0010c0012t0005 a0011c0017t0005 a0012c0027t0016 a0013c0026t0006 a0014c0031t0002 a0015c0022t0002 a0016c0023t0006 a0017c0020t0011 a0018c0019t0001 a0019c0016t0002	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 others(318): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0231 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0002g0291 a0001c0001t0002g0302 a0001c0001t0002g0326 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0112 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0162 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0253 a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0030 a0001c0001t0006g0033 a0001c0001t0006g0037 a0001c0001t0006g0040 a0001c0001t0006g0054 a0001c0001t0006g0245 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0284 a0001c0001t0006g0293 a0001c0001t0006g0295 a0001c0001t0006g0329 a0001c0001t0006g0331 a0001c0001t0007g0009 a0001c0001t0007g0013 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0046 a0001c0001t0007g0057 a0001c0001t0007g0066 a0001c0001t0007g0249 a0001c0001t0007g0254 a0001c0001t0007g0258 a0001c0001t0007g0285 a0001c0001t0007g0305 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0008g0096 a0001c0001t0008g0119 a0001c0001t0008g0125 a0001c0001t0009g0008 a0001c0001t0009g0246 a0001c0001t0009g0247 a0001c0001t0009g0248 a0001c0001t0009g0261 a0001c0001t0009g0280 a0001c0001t0009g0283 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0047 a0001c0001t0010g0289 a0001c0001t0010g0303 a0001c0001t0011g0150 a0001c0001t0013g0028 a0001c0001t0013g0055 a0001c0001t0013g0056 a0001c0001t0014g0153 a0001c0001t0016g0327 a0001c0001t0017g0322 a0001c0001t0018g0053 a0001c0001t0019g0049 a0001c0001t0023g0079 a0001c0001t0025g0043 a0001c0001t0028g0243 a0001c0001t0029g0278 a0001c0006t0001g0088 a0001c0006t0001g0109 a0001c0006t0001g0115 a0001c0006t0002g0038 a0001c0006t0002g0296 a0001c0006t0006g0016 a0001c0006t0006g0276 a0001c0006t0006g0292 a0001c0006t0006g0294 a0001c0024t0017g0288 a0001c0028t0024g0067 a0001c0029t0007g0250 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0147 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0238 a0002c0002t0002g0244 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0325 a0002c0002t0002g0328 a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0015 a0002c0002t0003g0117 a0002c0002t0003g0144 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0193 a0002c0002t0003g0204 a0002c0002t0003g0210 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0224 a0002c0002t0005g0202 a0002c0002t0007g0314 a0002c0002t0008g0142 a0002c0002t0008g0145 a0002c0002t0008g0188 a0002c0002t0011g0140 a0002c0002t0011g0187 a0002c0002t0012g0005 a0002c0002t0015g0084 a0002c0002t0015g0171 a0002c0002t0021g0236 a0002c0002t0022g0189 a0002c0005t0001g0180 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0003g0132 a0002c0005t0003g0212 a0002c0005t0006g0075 a0002c0005t0008g0134 a0002c0005t0008g0237 a0002c0005t0012g0169 a0002c0009t0003g0155 a0002c0009t0006g0071 a0002c0009t0006g0072 a0002c0009t0007g0069 a0002c0013t0007g0073 a0002c0021t0002g0281 a0003c0003t0001g0003 a0003c0003t0001g0127 a0003c0003t0002g0060 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0002g0286 a0003c0003t0004g0021 a0003c0003t0004g0022 a0003c0003t0004g0025 a0003c0003t0004g0029 a0003c0003t0004g0036 a0003c0003t0004g0041 a0003c0003t0004g0042 a0003c0003t0004g0050 a0003c0003t0004g0051 a0003c0003t0004g0052 a0003c0003t0004g0064 a0003c0003t0004g0255 a0003c0003t0004g0259 a0003c0003t0004g0260 a0003c0003t0004g0262 a0003c0003t0004g0263 a0003c0003t0004g0265 a0003c0003t0004g0269 a0003c0003t0004g0274 a0003c0003t0004g0279 a0003c0003t0004g0290 a0003c0003t0004g0299 a0003c0003t0004g0300 a0003c0003t0004g0301 a0003c0003t0004g0308 a0003c0003t0004g0330 a0003c0003t0005g0077 a0003c0003t0005g0078 a0003c0003t0005g0083 a0003c0003t0005g0087 a0003c0003t0005g0089 a0003c0003t0005g0097 a0003c0003t0005g0105 a0003c0003t0005g0113 a0003c0003t0005g0114 a0003c0003t0005g0116 a0003c0003t0005g0118 a0003c0003t0005g0123 a0003c0003t0005g0164 a0003c0003t0005g0168 a0003c0003t0027g0242 a0003c0008t0004g0001 a0003c0008t0004g0039 a0003c0008t0004g0277 a0003c0008t0005g0098 a0003c0018t0002g0239 a0003c0025t0004g0270 a0004c0004t0002g0010 a0004c0004t0002g0011 a0004c0004t0002g0317 a0004c0004t0004g0020 a0004c0004t0004g0027 a0004c0004t0004g0058 a0004c0004t0004g0059 a0004c0004t0004g0297 a0004c0004t0004g0311 a0004c0004t0004g0315 a0004c0004t0004g0324 a0004c0004t0005g0082 a0004c0004t0005g0135 a0004c0004t0005g0141 a0004c0004t0005g0143 a0004c0004t0005g0151 a0004c0004t0005g0167 a0004c0004t0005g0175 a0004c0004t0005g0181 a0004c0004t0005g0182 a0004c0004t0005g0186 a0004c0004t0005g0205 a0004c0004t0005g0206 a0004c0004t0005g0220 a0004c0004t0005g0225 a0004c0004t0005g0227 a0004c0007t0001g0152 a0004c0007t0001g0157 a0004c0007t0004g0323 a0004c0007t0005g0158 a0004c0007t0005g0159 a0004c0007t0005g0160 a0004c0007t0005g0184 a0004c0007t0005g0228 a0005c0011t0001g0006 a0005c0011t0001g0252 a0006c0010t0008g0137 a0006c0010t0010g0287 a0006c0010t0014g0133 a0007c0014t0007g0061 a0007c0014t0007g0062 a0008c0015t0011g0130 a0008c0015t0020g0048 a0009c0030t0007g0074 a0009c0032t0026g0012 a0010c0012t0005g0199 a0010c0012t0005g0200 a0011c0017t0005g0203 a0012c0027t0016g0304 a0013c0026t0006g0257 a0014c0031t0002g0014 a0015c0022t0002g0018 a0016c0023t0006g0019 a0017c0020t0011g0173 a0018c0019t0001g0110 a0019c0016t0002g0268	330	340	0.9706	-1	c.355 others(7): Show c.3559-7delT		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	29/37				INFO_REALIGN_3_PRIME	chr2	TogoVar
CPS1_chr2_210551599_210684107	210663103	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(291): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0006 a0001c0024 others(27): Show a0001c0001 a0001c0006 a0001c0024 a0001c0028 a0001c0029 a0002c0002 a0002c0005 a0002c0009 a0002c0013 a0002c0021 a0003c0003 a0003c0008 a0003c0018 a0003c0025 a0004c0004 a0004c0007 a0006c0010 a0007c0014 a0008c0015 a0009c0030 a0009c0032 a0010c0012 a0011c0017 a0012c0027 a0013c0026 a0014c0031 a0015c0022 a0016c0023 a0017c0020 a0018c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(71): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0024t0017 a0001c0028t0024 a0001c0029t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0002t0015 a0002c0002t0021 a0002c0005t0001 a0002c0005t0003 a0002c0005t0006 a0002c0005t0008 a0002c0005t0012 a0002c0009t0003 a0002c0009t0007 a0002c0013t0007 a0002c0021t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0027 a0003c0008t0004 a0003c0008t0005 a0003c0018t0002 a0003c0025t0004 a0004c0004t0002 a0004c0004t0004 a0004c0004t0005 a0004c0007t0001 a0004c0007t0004 a0004c0007t0005 a0006c0010t0008 a0006c0010t0010 a0006c0010t0014 a0007c0014t0007 a0008c0015t0011 a0008c0015t0020 a0009c0030t0007 a0009c0032t0026 a0010c0012t0005 a0011c0017t0005 a0012c0027t0016 a0013c0026t0006 a0014c0031t0002 a0015c0022t0002 a0016c0023t0006 a0017c0020t0011 a0018c0019t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 others(284): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0231 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0002g0291 a0001c0001t0002g0302 a0001c0001t0002g0326 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0162 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0253 a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0030 a0001c0001t0006g0033 a0001c0001t0006g0037 a0001c0001t0006g0040 a0001c0001t0006g0054 a0001c0001t0006g0245 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0284 a0001c0001t0006g0293 a0001c0001t0006g0295 a0001c0001t0006g0329 a0001c0001t0006g0331 a0001c0001t0007g0009 a0001c0001t0007g0013 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0046 a0001c0001t0007g0057 a0001c0001t0007g0066 a0001c0001t0007g0249 a0001c0001t0007g0254 a0001c0001t0007g0258 a0001c0001t0007g0285 a0001c0001t0007g0305 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0008g0096 a0001c0001t0008g0119 a0001c0001t0008g0125 a0001c0001t0009g0008 a0001c0001t0009g0246 a0001c0001t0009g0247 a0001c0001t0009g0248 a0001c0001t0009g0261 a0001c0001t0009g0280 a0001c0001t0009g0283 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0047 a0001c0001t0010g0289 a0001c0001t0011g0150 a0001c0001t0013g0028 a0001c0001t0013g0055 a0001c0001t0013g0056 a0001c0001t0014g0153 a0001c0001t0016g0327 a0001c0001t0018g0053 a0001c0001t0019g0049 a0001c0001t0023g0079 a0001c0001t0025g0043 a0001c0001t0028g0243 a0001c0001t0029g0278 a0001c0006t0001g0088 a0001c0006t0001g0109 a0001c0006t0001g0115 a0001c0006t0002g0038 a0001c0006t0002g0296 a0001c0006t0006g0276 a0001c0024t0017g0288 a0001c0028t0024g0067 a0001c0029t0007g0250 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0147 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0190 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0238 a0002c0002t0002g0244 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0325 a0002c0002t0002g0328 a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0015 a0002c0002t0003g0117 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0204 a0002c0002t0003g0210 a0002c0002t0003g0224 a0002c0002t0005g0202 a0002c0002t0007g0314 a0002c0002t0008g0142 a0002c0002t0008g0145 a0002c0002t0008g0188 a0002c0002t0012g0005 a0002c0002t0015g0084 a0002c0002t0015g0171 a0002c0002t0021g0236 a0002c0005t0001g0180 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0003g0132 a0002c0005t0003g0212 a0002c0005t0006g0075 a0002c0005t0008g0134 a0002c0005t0008g0237 a0002c0005t0012g0169 a0002c0009t0003g0155 a0002c0009t0007g0069 a0002c0013t0007g0073 a0002c0021t0002g0281 a0003c0003t0001g0127 a0003c0003t0002g0060 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0004g0021 a0003c0003t0004g0022 a0003c0003t0004g0025 a0003c0003t0004g0029 a0003c0003t0004g0036 a0003c0003t0004g0041 a0003c0003t0004g0042 a0003c0003t0004g0050 a0003c0003t0004g0051 a0003c0003t0004g0052 a0003c0003t0004g0064 a0003c0003t0004g0251 a0003c0003t0004g0255 a0003c0003t0004g0259 a0003c0003t0004g0260 a0003c0003t0004g0262 a0003c0003t0004g0263 a0003c0003t0004g0265 a0003c0003t0004g0269 a0003c0003t0004g0274 a0003c0003t0004g0279 a0003c0003t0004g0290 a0003c0003t0004g0298 a0003c0003t0004g0299 a0003c0003t0004g0300 a0003c0003t0004g0301 a0003c0003t0004g0330 a0003c0003t0005g0077 a0003c0003t0005g0078 a0003c0003t0005g0083 a0003c0003t0005g0089 a0003c0003t0005g0097 a0003c0003t0005g0105 a0003c0003t0005g0116 a0003c0003t0005g0118 a0003c0003t0005g0123 a0003c0003t0005g0164 a0003c0003t0005g0168 a0003c0003t0027g0242 a0003c0008t0004g0001 a0003c0008t0004g0039 a0003c0008t0004g0277 a0003c0008t0005g0098 a0003c0018t0002g0239 a0003c0025t0004g0270 a0004c0004t0002g0010 a0004c0004t0002g0011 a0004c0004t0002g0317 a0004c0004t0004g0020 a0004c0004t0004g0027 a0004c0004t0004g0058 a0004c0004t0004g0059 a0004c0004t0004g0297 a0004c0004t0004g0311 a0004c0004t0004g0315 a0004c0004t0004g0324 a0004c0004t0005g0135 a0004c0004t0005g0143 a0004c0004t0005g0175 a0004c0004t0005g0181 a0004c0004t0005g0182 a0004c0004t0005g0186 a0004c0004t0005g0225 a0004c0004t0005g0227 a0004c0007t0001g0152 a0004c0007t0001g0157 a0004c0007t0004g0323 a0004c0007t0005g0228 a0006c0010t0008g0137 a0006c0010t0010g0287 a0006c0010t0014g0133 a0007c0014t0007g0061 a0007c0014t0007g0062 a0008c0015t0011g0130 a0008c0015t0020g0048 a0009c0030t0007g0074 a0009c0032t0026g0012 a0010c0012t0005g0199 a0010c0012t0005g0200 a0011c0017t0005g0203 a0012c0027t0016g0304 a0013c0026t0006g0257 a0014c0031t0002g0014 a0015c0022t0002g0018 a0016c0023t0006g0019 a0017c0020t0011g0173 a0018c0019t0001g0110	294	340	0.8647	-1	c.392 others(7): Show c.3928-8delT		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	32/37				INFO_REALIGN_3_PRIME	chr2	TogoVar
CPS1_chr2_210551599_210684107	210663103	GTT GTT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02622.hp2 HG02717.hp1 others(6): Show HG01891.hp2 HG02622.hp2 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03579.hp2 NA19030.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0007 a0005c0011 a0003c0003 a0004c0007 a0005c0011	a0003c0003t0001 a0003c0003t0002 a0004c0007t0005 others(1): Show a0003c0003t0001 a0003c0003t0002 a0004c0007t0005 a0005c0011t0001	a0003c0003t0001g0003 a0003c0003t0002g0286 a0004c0007t0005g0158 others(4): Show a0003c0003t0001g0003 a0003c0003t0002g0286 a0004c0007t0005g0158 a0004c0007t0005g0159 a0004c0007t0005g0160 a0005c0011t0001g0006 a0005c0011t0001g0252	9	340	0.0265	-2	c.392 others(15): Show c.3928-9_3928-8delTT		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	32/37				INFO_REALIGN_3_PRIME	chr2	TogoVar
CPS1_chr2_210551599_210684107	210677140	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03831.hp1 HG03834.hp2 NA20905.hp1 HG03831.hp1 HG03834.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0029 a0002c0002t0015 a0001c0001t0029 a0002c0002t0015	a0001c0001t0029g0278 a0002c0002t0015g0084 a0002c0002t0015g0171 a0001c0001t0029g0278 a0002c0002t0015g0084 a0002c0002t0015g0171	3	340	0.0088	0	c.440 others(6): Show c.4404+4T>A		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	37/37					chr2	TogoVar
CPSF1_chr8_144388231_144414335	144395091	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	350	0.0029	0	c.327 others(6): Show c.3272+7C>T		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	29/37					chr8	TogoVar
CPSF1_chr8_144388231_144414335	144395549	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02735.hp1 NA21309.hp2 HG02735.hp1 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0047 a0001c0009t0001g0050 a0001c0009t0001g0047 a0001c0009t0001g0050	2	350	0.0057	0	c.298 others(4): Show c.2982C>T	p.Gly others(6): Show p.Gly994Gly	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	27/38	3043/4480	2982/4332	994/1443		chr8	TogoVar
CPSF1_chr8_144388231_144414335	144396341	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02735.hp1 HG03017.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0008 a0011 a0013	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0018 a0002c0004 a0007c0020 a0008c0035 a0011c0017 a0013c0022	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0009t0001 a0001c0018t0001 a0002c0004t0001 a0007c0020t0001 a0008c0035t0001 a0011c0017t0001 a0013c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(55): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0002t0001g0086 a0001c0008t0001g0133 a0001c0008t0001g0134 a0001c0009t0001g0047 a0001c0009t0001g0050 a0001c0018t0001g0062 a0002c0004t0001g0028 a0002c0004t0001g0122 a0007c0020t0001g0048 a0008c0035t0001g0121 a0011c0017t0001g0115 a0013c0022t0001g0116	130	350	0.3714	0	c.297 others(6): Show c.2979+7C>T		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	26/37					chr8	TogoVar
CPSF1_chr8_144388231_144414335	144397883	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0008 a0011 a0013	a0001c0001 a0001c0008 a0001c0009 others(13): Show a0001c0001 a0001c0008 a0001c0009 a0001c0014 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0031 a0001c0032 a0002c0004 a0006c0012 a0007c0020 a0008c0035 a0011c0017 a0013c0022	a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 others(13): Show a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 a0001c0014t0001 a0001c0016t0001 a0001c0018t0001 a0001c0019t0001 a0001c0021t0001 a0001c0031t0001 a0001c0032t0001 a0002c0004t0001 a0006c0012t0001 a0007c0020t0001 a0008c0035t0001 a0011c0017t0001 a0013c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(88): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0008t0001g0133 a0001c0008t0001g0134 a0001c0009t0001g0047 a0001c0009t0001g0050 a0001c0014t0001g0145 a0001c0016t0001g0148 a0001c0018t0001g0062 a0001c0019t0001g0149 a0001c0021t0001g0039 a0001c0031t0001g0144 a0001c0032t0001g0153 a0002c0004t0001g0028 a0002c0004t0001g0122 a0006c0012t0001g0160 a0007c0020t0001g0048 a0008c0035t0001g0121 a0011c0017t0001g0115 a0013c0022t0001g0116	182	350	0.5200	0	c.207 others(6): Show c.2074-4G>A		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	20/37					chr8	TogoVar
CPSF1_chr8_144388231_144414335	144399207	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	350	0.0029	0	c.139 others(6): Show c.1393-5C>T		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	14/37					chr8	TogoVar
CPSF1_chr8_144388231_144414335	144400497	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp1 HG03041.hp1 NA20129.hp2 HG02809.hp1 HG03041.hp1 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0032 a0001c0005t0001g0166 a0001c0005t0001g0032 a0001c0005t0001g0166	3	350	0.0086	0	c.687 others(5): Show c.687-4C>T		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	7/37					chr8	TogoVar
CPSF1_chr8_144388231_144414335	144409007	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	350	0.0029	0	c.144 others(5): Show c.144+8G>A		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	2/37					chr8	TogoVar
CPSF3_chr2_9418654_9478101	9452898	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG01123.hp1 HG01361.hp2 others(5): Show HG00639.hp2 HG01123.hp1 HG01361.hp2 HG02615.hp1 HG02622.hp2 HG02976.hp1 HG03831.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0071 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0199 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0171	8	230	0.0348	1	c.139 others(7): Show c.1396-5dupT		CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	11/17				INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9471438	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0027 a0002c0006t0001g0027	1	230	0.0044	0	c.195 others(4): Show c.1952G>A	p.Arg others(6): Show p.Arg651Gln	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	17/18	2072/2259	1952/2055	651/684		chr2	TogoVar
CPT1A_chr11_68749883_68846916	68784810	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp1 HG03471.hp2 NA20129.hp1 HG03471.hp1 HG03471.hp2 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0036 a0002c0006t0011g0104 a0002c0006t0011g0165 a0002c0006t0011g0036 a0002c0006t0011g0104 a0002c0006t0011g0165	3	236	0.0127	0	c.116 others(6): Show c.1163+5G>A		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	10/18					chr11	TogoVar
CPT1A_chr11_68749883_68846916	68785018	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG01074.hp1 HG01081.hp1 others(38): Show HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01952.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG04115.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18969.hp1 NA18975.hp1 NA19002.hp2 NA19007.hp2 NA19077.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0010 a0001c0002t0023	a0001c0002t0001g0040 a0001c0002t0001g0212 a0001c0002t0002g0009 others(38): Show a0001c0002t0001g0040 a0001c0002t0001g0212 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0015 a0001c0002t0002g0030 a0001c0002t0002g0033 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0066 a0001c0002t0002g0107 a0001c0002t0002g0121 a0001c0002t0002g0126 a0001c0002t0002g0139 a0001c0002t0002g0150 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0185 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0214 a0001c0002t0002g0220 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0141 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0003g0159 a0001c0002t0003g0211 a0001c0002t0003g0225 a0001c0002t0008g0218 a0001c0002t0010g0010 a0001c0002t0023g0196	41	236	0.1737	0	c.968 others(5): Show c.968-8C>T		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	9/18					chr11	TogoVar
CPT1A_chr11_68749883_68846916	68793312	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG01081.hp1 HG01192.hp2 others(14): Show HG01074.hp1 HG01081.hp1 HG01192.hp2 HG01433.hp2 HG01952.hp1 HG02015.hp2 HG02071.hp2 HG04115.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18969.hp1 NA18975.hp1 NA19002.hp2 NA19007.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0023	a0001c0001t0003g0140 a0001c0002t0001g0040 a0001c0002t0001g0212 others(14): Show a0001c0001t0003g0140 a0001c0002t0001g0040 a0001c0002t0001g0212 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0060 a0001c0002t0002g0066 a0001c0002t0002g0126 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0214 a0001c0002t0003g0211 a0001c0002t0023g0196	17	236	0.0720	0	c.967 others(5): Show c.967+3G>A		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	9/18					chr11	TogoVar
CPT1B_chr22_50563861_50583427	50569419	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19070.hp2 NA19070.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0066 a0005c0022t0001g0066	1	414	0.0024	0	c.223 others(4): Show c.2238C>T	p.Asn others(6): Show p.Asn746Asn	CPT1B	ENSG00000205560.13	transcript	ENST00000312108.12	protein_coding	19/20	2299/2603	2238/2319	746/772		chr22	TogoVar
CPT1B_chr22_50563861_50583427	50572129	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19058.hp2 NA19058.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0097 a0004c0004t0002g0097	1	414	0.0024	0	c.145 others(6): Show c.1459-7C>G		CPT1B	ENSG00000205560.13	transcript	ENST00000312108.12	protein_coding	12/19					chr22	TogoVar
CPT1B_chr22_50563861_50583427	50572314	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG03516.hp2 NA18906.hp1 HG02818.hp1 HG03516.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0004 a0002c0002t0005	a0002c0002t0004g0040 a0002c0002t0005g0107 a0002c0002t0004g0040 a0002c0002t0005g0107	3	414	0.0073	0	c.135 others(6): Show c.1353-6C>T		CPT1B	ENSG00000205560.13	transcript	ENST00000312108.12	protein_coding	11/19					chr22	TogoVar
CPT1B_chr22_50563861_50583427	50574425	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00438.hp2 HG02074.hp1 others(6): Show HG00140.hp2 HG00438.hp2 HG02074.hp1 HG02602.hp1 HG03017.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp2 NA20905.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0005 a0002c0006t0004 a0002c0006t0005	a0002c0006t0004g0012 a0002c0006t0005g0101 a0002c0006t0004g0012 a0002c0006t0005g0101	9	414	0.0217	0	c.886 others(5): Show c.886-6C>T		CPT1B	ENSG00000205560.13	transcript	ENST00000312108.12	protein_coding	8/19					chr22	TogoVar
CPT1C_chr19_49686116_49718731	49700679	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	350	0.0029	0	c.282 others(5): Show c.282-5C>T		CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	4/19					chr19	TogoVar
CPT1C_chr19_49686116_49718731	49708715	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	350	0.0029	0	c.145 others(6): Show c.1450-8G>A		CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	13/19					chr19	TogoVar
CPT2_chr1_53191824_53219197	53200716	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19086.hp1 NA19086.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0093 a0004c0004t0001g0093	1	386	0.0026	0	c.153 others(5): Show c.153-3C>A		CPT2	ENSG00000157184.7	transcript	ENST00000371486.4	protein_coding	1/4					chr1	TogoVar
CPTP_chr1_1319802_1333896	1326837	A A	C C	splice_region_variant splice_region_variant	LOW	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0003 a0001c0002t0029g0003	1	378	0.0027	0	c.-74 others(3): Show c.-74A>C		CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding	2/3					chr1	TogoVar
CPVL_chr7_28990235_29151537	29029404	GTGTCCAT others(10905): Show GTGTCCATCAACAGATGAATGGATTTTAAAAATGTGGCATATACACACAA TGGAATATTACTAAGCCATAAAAAAGAATGAAATCCTATCACTTGCAGTG ACATGGATGGAACTGGAGGTCGTTATGTTAAAGGAAATAAGCCAGGCAAA GAAAGACAAATATCGTATGTTCTCACTCACATGTGGGAGCGTAAAAAGTT AATTTCATGGAGGTAGAGAATAGAATGATAGTTACCAGAGGCTGGGAAGT GGGGATGGGTGGGAAGACGAAGAGAGATTGGTTAAGGGGTGCAGACAGTT AGATAGAAGGAATAAATTCTAGTGTTCAATAGCACAGTAGGGTGACTATA GTTAAGAACGATATATTGTATATTTCAAAATGGCTAGAAGAGATTTGAAA TGTTCCCAATATAATGAAATGATACATGTTTGAGGTGATGGATATCCTAA ATACCCTGATTTGGTCATTAACATTAAATACATGTATCAAAATATTACAT GTATTCTATAAAGATGTACACTTACATATCGACAACAACAACAAAACCCT TCCCTCAAACAAATCTCCAAGCCCAGATGGCTTCACCAGTGAATTCTCCT AACACTTAAAGATACCGTTTCCAACAACAGAAAGAGGAAACACTTCCCAA CTTATTTTATGAGGCCAGTATAACCATGATTCCAACACTTGAAGAGGACA TTGCAAGAAAGGAAGATGATGAGAGTAACATCTGACCCCGCAGTGGAAGT TGCACTAGGGTGTCAGCTAGAGAGATTTTGTCCTGAGGCTCCACATGTAA TATAAAAATGTGATCATACATTTGCCAGAGGAGATTGTGTTGAAACTTCC TTTATAATTTGCCAAGTTCTCTCCCCAAATAGACTGCAATTCTCTCATTA ATGATTTGCCTCTTTGGACTGAGCACTGTCTTTTTAATGAATTGTCTCCT TACCTCTTGAACAATGCCTAAACTTTTGTCTGGTTTTATATTTAGTCCTA TGTATGTCTGAACTCAGACCACTCTTCTCTGTGGAAAGTAGGGCCACAGA AGACACACACTGGCTGTTGTATGGCTTTGCTTAAGGTCGGCCATGTCTCA TTGCTATTCAGGCTTTATTTTCAATCCCGCTCTCCCATTCCCACAACCTG CCTGCTCCCAAGCATCTTCCTACCTGATGGAAGTCACCCGCTTGCCGGAT GTAACCAGCCACTTCACTGTCAGATTTAAAGATCTTCCAAACTTTTTTTT CTGCCTTCTTGTATTCCTGGGATCCTTTCCAGTCCATGCCCATCAAGGAG CGCTCTGTCAGGGCAGCTGCCACGATGATGTCCAGTTGGCCATTGTAGAT CAGAACCTGAAATGAAATCAAGCCATCAGCAAATGCAAGATTCAGGAGGT GAAGCTCATGAATCGAGCTAGGTATAAATAGTGAGCCAGTGAGAGAGAAA AAGAGACATGAATCTCTCTGAGATTTTCTTCTAGTTAGCCATAAAGAATA ACAATCCGAAATAAACTCAAGCCTTGTCTCTACCACTGAATTCTTCATAG TAATCTGCATAAAGGCCTCTCTTGGTTGCAAAAACATTTGTGTTGTATTA CTCAGTGATACATATATACAGGTTTTACTTGGACTTATGGCTATGTTAAG AAGGAAGACTGTGGTTACATTTTAGTGGAACTAAGGAATACTACCCCCTA GGATTTTCATGAAGCCTGCATTTCATTAACTTCAACTTCAGGCAGTGCAG TCGCTGGCAAGCTGAGCTTTCTCTTGGGTATTGCTAATCCATATTGCTCT CCTCTCCTACATTGATTTCAGTAGCAAGTATAATTTTTTTGCAGCAGCAG ACAGAGAGATTCAGGTGCCTCAAATTTGTTTCTTATTGGAAGCAACTATG CCTGCCATGCCACTTGCAAAACTTCCTTTTTAAAAATATGATAGCTGCTT GTCAACAGTGAGGAATGTTCTTTCTTCCTAGAATACAATTTTTTGTATGT GTCAAACTGATGTTTATCATAGGAAAAACAACACTGAGGTAACTCTTTTC ATTAATCCTAAAGCAATTTTCAATTTGCTTGAAAAAATAATTCAGATAAT TCCCAATTCTGATAAAGTTGTAGAACTAATGGGGACAGTATAAAATGGCT CTTCTTTTCAGAAAATCAGTAGCCAATTTTCTGCCCCCAAACTTAAAAAT GTTGAAATTCCTTGTCCCAGTAATTTCAACTTGTAGAATATATTCTAGGA AAACAGGTCCAAAGAAATTTTAAAAAATTATATATATTCATTGAGTCTTA TAATGAAAAACTCAAACACAATCCAGAAGTCCTATAATTGAGTAGGTAAA TGCACAACAGTATAAGAATTCTATAGGATATTATAAGACCATTTAAAATG TTTCATTGAACCATGATGCAATGTGGGAAATACTTATCACATAATGTTAA GTATGAAAGCAGAAAGTCAAGTATAATGTATATCACAACTATAACTATAA AAATCAATGTACATATTCACATATATGGAATACAAAGTTTGAAAAATGTT AATATTTAGATGGTGGAAATCTGAGTAATATACTCTCCTTTTTTTCTACT CTTACGCTACTTTTATGCAACTAACATATTAATTATCATAAAGTATTGCC ACTCCACCTCCAACAAAGAGGTCGGCCTCAACTCCATGCTACTTTTGATC TATTTGAAGGCTCTGATTTGGCCCGAGTGGAGACCTTTGGTTGAATCCTC AAATTGGATATAAAATATTTCACTGCATAAGTTTCCGTCTTTCCCTTTAC GGTGCGGGTTCTTAAAAGGCTCAAACATAATTAAAAAGCCCAGGACTTTT ACACACTCCAAATCCTCAAGCAGCAGTGGGACAGCAGTCAGACTAAGATG AAAGAGCCCTGGGCCCCCACTGCAGGAACACGGGGCCTTTCATGTTACTC AGTCACCATCACCACCCCCACTCTCCTAAGAAGAAACCCACAGGAAAATC CTGATAGATTTAAAGCCTGTTAAAAAAATTCAACTGAACTCCAGTAATAA AATATTTGCATTGTTTATATAGAGAAATTACCTCAAAGACCTTGAGTACT CATGGCCTCTGCAAAACCTCCTATAGTTGTTTTGGCCAACAGTATGGAAA CAATTATATATGATTAGTACCAGTGAACAAGACTTAATTACTTCACCATT CTACGAAGACCTGATTATAGCTGATTAGCAAAGATCATCAAGCATAAAGT GATTCTTCTTCTAGAATTCAGTGTAAAAGATGCTGATCAATCAGCAAATT CATAGTGCATCCATTTAATTTTACTCTCCATGGCCACTACAGGCAGCTTG CATCTCTCATGTGTCTCCCACAGCTTTCTTTACTGACAATCATTACTATA TTTTGAAATCAATGTGATGTTTTTTTCATCCTTAAGGGACAATAGCAAAG TCCCCATGTTACAGCAAAAACACATTTATATGTACAGCATTATATTACAT GTTGAACTGACATGGAATGAGGACCATCCCTGAGTTGTTAGTCAAGACTT ATCTTGTTAGTCAAGACTTATCATAACAAGAGCACCAACTCTCTGGACCA AGAAACAGCAAAGAGCTGAATTGCACAATCTCGCACAGGCAATGTGTAGA AGGTCTACTTTTGGGTACAAATGGAAATCCTTCCTTTGCAAAGCAAGGAA ACCATTTTGTATTTCTGAAGGGCACATAAGTCAAATGCAACAAAAAAGAA ATCAGAATAACGATCATGAGAAGTGATTTCAAAGGCAGGCCAGCATTAAA TATAAGAATTCCAGAGCTCTTATTTGCACCTAAATGTCACATTTACTCTC ATGAGCCCCTATAGGAATATCCCAGTTAGGTGCCTCTAGGCTGGGTGAGT GGATGAGATAGCCTAGGACCCAGTGGCTGAGCATGAGAAGCAGGTGGGCA CGGCATAGGGGTGGTCCTGAAGCCCAAGGGCACACGCTGGCTACCCACAT CCTGATAGAAAAGTTCCAGGGAGGAACTTAGCTCTGACAAGGACAGGTTG GCCAAATATGTCTACACACTCATCCCACTTCTCCCCCGGTAGGGTGACCA ACTGTCCCAGTTTGCCCTGGACAGGAGTTGCCCAGCAAGACATGCAGTGC TAAAACTGGGACACTCTGGAGCAAACTTACCCCTAAGGCTTGCTGGTATT TTAAGCAACAAGGTCTAAAGACAGAAGGGAGGAGACAGAGATGAATGCAG CTTTTAGCTACACTTCCCTTGTCAATAGTGATTGGAACAAAACAAGGAAC AAGGAAAGAGCTGGTTGGAGTTGGTCTCCAGCGACGTACTAGGCAGTGCC CTGAACATGCATTTCCTCACTTTCCTTTCTGGTCAGCTGTAGGCCTCTGG TAAGGGAGCAAAGCCACTGCTTTTAGAGACTTCTTTTACTCCTTAGAGGG CTGGCTGCTTAGCTTAGTGAAACTGATGGTTATGCAATGTCACAGAAAAA TGCTTATCTTATGAAAAAAATCAATGAAAAACTGAGACTTCACTTGTTTG TACTCTAATTATCACATATTTAAAAATGCTTCAAACCTGGGGAAAGAACA AATCAAAATACAGTTATTTGAGCTATGGTTGATTTATTTTAGATTGGCTA TCTTCTAGGTTTCTGTTTTGTTTTGTTTTTGGCAAATGTGGTTACAATCC TTTTTTTAAATTTTTTTTAAGAGACAGTCTCACTATGTTCCCCTAAGCTG GAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCAACTGCTGGACTC AAGCCATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCAT GCCACTACACCCAGCTAATTTTTTTGTATATTTTGTAGAGACGGGGTTTC GCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCTGCCC ACCTCAGCTTCCTTCCCAAAATGCTGGGATTACAGGTATGATCCACCGCA CCTGGCCATAGAATGCTTTTTATTTATTGATTTATTTTTCTTCAACTTTT AAGTTCAGGGGTATATGTGCAGGTTTGTTACATAGGTCAATGTGTGCCAT GGTGGTTTGCTGTACAGATCATCTCATCACCTAGGTATTAAGCCCAGCAT CCATTACCTCCCTCCCCCTGCACCCTCCTGACAGGCCCCAGTATGTGTTG TTCCCCCCATGTGTCCATGTGTTCTCATCGTTTTTTACAAAATAATTCTT TAAAAAGTTTAATTAATTAATTAATTTAGAGACCAGGTTATGAGACTGGC TATTTTTCGTATTTTTGGTAGAGACAGGGTATCACCATGTTGCCAAGGCT GCTCTCAAACTTCTGGGCTCAAGTGATCTACCTGCCTCCTTAAAGTGCTG GGATTACAGGCATGAGCCACTGCACCCAGCCTAGAATGCTTTTATAATGG AAAAAAAAAAAAAAAAGAACAATAATGCTATGAGGTTGGATACCTCAGTT TGGCAAAAGATGAGTCTTTTGGAGAAATAATTTGTAAGAATTCAAATACT ACCATACCAGCTCTCATTTTTTTTTTCATGACAACTAGGTAAAAAGCTTA ATTTTAATTCATAGACAGTCTTTAAAAACTCATTCCAGAATTCAAGCCTT TCCAAGAGACGGCATTTGGTGACTTGGACCACAAGCATCTTTTTCTTCCT CTTTGTCAAAAGGCAGAGATGAGAAAAGCATCTTTATTATTATTAATTCT TTCTTGCTTTTCAACCTGCTTTCATGTGCATAGAGCTTTATTCTTGTACT GCTTCACAAGGTCAGGAACAGAAGTGTTCCACTGTCCGCCTCCACTTTAC TGTTATGGAAACTGTGATACTGTGAGGCAACAGAATGAGTCCTAGATCCC GACTTCCACCCTTCTACCTAAAATTTTTCCTTAAGAAAAGAGCTAAAGTT CCTTCAAACCAACAAGCATTTATTGACTCCCTGCAGCTAACCATTTAGTG CTACCAAAAGCTGCTGGAAACTGAGAGTTAGTTGCATATGAGACACAGTT CACATCTCCGGTTCAGAAACAATCTTGCTCTGTTTGTCTGGCCCTGGTGA CATCTCTTAGTCACCTCTCACTTTGGCTCTATGGACAGGATGTGTGTGAG GGCATTACTCACAGTTGGTGGGGAGTGGCCTTGCTAAACCGCTGTGAAAT ACCAGCAGTGCCTTAAAAACAGGAGCTCCCGAGTGCGTGCTACATCCCCA GGCCTTGCACAGTGCCTGGTACCCCATAAAACCGATGGACAATTACAGGG TATGGATTCTGCTCTTTAATGGTTTCATGTGGTGCTGTATAGTGACCATC TGCTGCTTTTGCATGCCCAGGTCCACTCTCCCTTCTCCTGGAAACTGTAC TTTGTGGGTCACCCACACCTTCAGTGGATACAGCCCTGGTGGGAGTTGTC AATCACAGTGTCCTGCCTCCTCTGGCAAAGGATAAGCACATTACCTAAGT AAAGGCACTCAAATGCTCTTTCCCTGGAATTGGAATCATGGGCAGAGGAC ACAGAGTTCATTGATAAGTCTACTCATTAGTTTTGCTTCCTAGATCCCTA GAATTTTCCCCAATCTGCTGTTCTTTCTTCACCCCACTTCTTCAGTTTTT CCATGAATTCTAAGACCTATCCTGTCTTCCAATCAATTCCATTCATGCTT CAAGTAAGCAGAGTTATTTCTGTCACTGAAACCATGAAATCCAAACTCAT ACACCTTCGGACCAGTGCAGTGCATGCCAACACACCATAACTGGAACTCG TAGACATGTGGGTGAACTTCCAAGAGCTTCAGCCCCTTTTCTGGACATGA GGATGCGACGAACTATACAGAATTGTAACGAGAACTAATGAGACCATGTA CACAAAGTTCCCAGCACAGTGCCTGACACAGAATAAGAGGTCAGTGAGTA TTAGGTCCTCCTCCTTCTCAAGCAAGTTGATCATCTGATAATGATTGGAG AGACTCGACACAGCACTTCTTCTAAATAAACCTTCAGAATATAGGGATGG TCTTTCTGTGTCAAATACTTGGTTGTCAATCTCACTCTTTCAGAAAAAGG CCGACTGTAGGAAGAAATCCAGCCAGGATAAACCTGAACTCTATATATAT TCAAGCTCTCGAAATAATAACACACCCTTGACTACTAATTTTGCATGCAT TGGCCACTGCATCTCAGTCTTTTCTTGAAAGTTAGAGCCATAAATTCATG TATTACTCTTTTAAAGGAACTTCTAATTCTGAAGCCTGGAATTCAAAATC ACATGGAATTCCCCCACACTTAAATGCTAGAAAAGTGTGGTAAAGACTAT GGCTTTTAAAAGGAAGTTTTTGAGTAATAATAAGACTCTCTTGTTGTTTT TCTTATTATGTTCCAGGAACTGTGCTAAGCATTTTACAGCATTCTCAGAA GGCAGGTGTTATTTATCCCATTTTAGGCACAAGGAGGCAGAGGTGTAAGG AGGTAAGTCAGTGTACCATGATCCCCCAACAGGTGACTGAAATTCAAGTT CAGATCGACCTGAGCCCAAACTGTGTGCTTCTAAGTGCTCTTCCACATTG CCTCACTACTGTCTAAGGTCACTAACCTCCATAAGAACACATTGAACAGG TGCTTTATTCTATATTTGTAATTCCACAAGCAAGTGGCAAACCTAAAGTG TGACTCTTTGACATTAAGGATATATGTTTATAGTTATGTGCATAAACTCT ATGGCTGGGTTTGAATCTGACCCCTGCCACTAACTGGCAGTATTATCTTA ATTGAGTTAGCCCATCTAGAGCTCAGTTTCTTCATCTGCACAATGGGTAT AAGAAAAGTGGCCAGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTG GGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATGGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAATAAATACAAAAAAAAAAAA TTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGC GATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCA AAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGCACATATGAATCGGG AGTATTTATGAAACATGATGCATGTGAAGCATGATAAAGTACACAACGGT ACAACAATTTCCAAATGAAATGTTACCTATGGATTAGAATTGTGACTTAG GATGGAGGAGTTAGAACTCCATAAATAACTGCACCAGGCACGCCACTGAC TGGACAGAACTAACAGCAGAAGCTTATAAAAGTAGCCGACACTTTCAGAC AGAAGTCTTGACCTCTGGCCCTGCCTCAGCCCCGCAAGACCTGTGCTCAC TGAGTGATCTTGGATATGTCATCTACTCACTCTGAGCTTTAATTTTCTCC TCTAAATAGTGGAAATAGCTACATCCCACAGCTGTCAGGAGGGCAAATAG GATACCAAACCTAAAGATTTCCTATAACTTGAAGAGCAGGTTTTACCAAT GTTTTTATTGCTCTTTATCAAAGATAAACTAAAAAATAAATTCCTATACT GGAGTGCAGAGGTCTTAAGTTGGCTGTGTGAGGCTTGCATTCAGCATGCA GATGTATTTGGTTAGTCCAAATGGTGTTGTTGTAACTGTTTTTCCATTTA GATGCCAGTGTTATGGACCAAATGTTTGTATCCTCCCAAAACTCAAATGT GGAAAACCTAACAGCCAAAGTGATGGTGTTAGGAGATGGGGCCTTTGGAG GGTGATTAGGGGATAAGAGCAGAGCCCTCATGAATGGAATTAGTGCCCCT ACAAAAGAGACCTCAGAGAGCTCTCTATTACTCTTTCCACCATGTGAGGA TACAAAAAGAGGTCAGTAGTCTGCAACCCAGGAGATCCTCACCAGAACTG ATCATGCTGGTAATCTCATCTCAGATTTCCAGCTTCCAGAACTGTAAGAA ACAATTTTTTCTTGTTTTTAAGCCCTTAGTCTATGTTACTATGTTACAGC AGCCTGAACTAAGACAGTCAGCATTTAAATATTCGGAGATCTGACCAGGC TGGGCCTGTATTTCCTCTCAGCCACAATGAGCTAACACTTTGCGGAGCTG TAACCCTGAGGCACACCCCCACCCCTGCCCTGGTATCCTCACACACACAG GCACAGGGTGGTTGTCATTTATTCAATGCTTATGCTACTGTTTTTCTTAG AAGAGAAAAATATTCTCTGTATCCATACCTCTGTCATGGGTAAAAAAGAT CAGTAGGTCTCAATCCAACACTATCCATTTATTTCACTTCCTTCCTGGAT TTGCAGGTGGTTAAGTGTTCCCTCCATCTGAAATGGAAGGGAAGTGGCCT TTTGTCTGAGTTGGAGAAGAGGGCATGCTCACTTGTGTATGTAGTGTGTT TTGTTTGTTTTTTAGTTTACTCATATGAGATCTCTGCCTATTCAACAGAC ACGTTTATGGAGAGACTAAGGACTAAGTACCATGGGAACAGGTATGGAAA GCTGTGACCCCTGTCTTTCAAATGCTTCAGATTTTTTTTTAACTTTTCAA AGCAGTGAATACTCAGAAAAGGAAAGGGAAATTTATGCTTTCATTCTTTA AGTTTTCCTTAGAAGAGGGGCCAAGAAAAGTCAGTTTCACTTAAACCTTT CTAAAATGCTAGTCCTTTTAACAATTCAAATCATAAATTGAATTTCAGGT TCTAGATGCACATAAATCAGCAGTTTATTCATGAGTTTAACTATCTCAGC AAGAAAACCTTCTCCTAGTAAAGACCTAATGAACAGAATCAGATGAGAAT TAACCCTTATTTTAAATAGAGTATGCCTCTGAGGGGTAAATAATTTAAGG CAGATATAAAGCAACCATTTTAGCCAAAGATACCTGCAGAAGAGTACGTT TACAGACACCTAGAAAGATTCCACACTCTATAAGCACAGATTTTCACTTA AAATTTAAGTCAGGCAGTGCCATGATGATAATCAGAGGTGAAAAAAGAAC TCTGTGCTTTTAATACAGCCTGAGAGATTAGAGACAGAAATGTATATAAG TGTGCATTTTAGTTTATTTTCATTGTTGCTAGCATGAAAGGCTAAGACTG AAAATAAATCATGTGAGGTCCACTTACTGTTCTAAACTTTAACCATTTTT TGTTGTGGTTAAAAAAAAAAAGCACACATGTTACTGACAGAGAACACAAA ACTTTTCTCTTTATTCCCTGCTTACAGCTCTTACTTATTAGGAAAATTAC AGAAATACCAGAGAAGGAGGCTTTGGTATCTCAGCACAACAGGAAAGCAA ATTGTGCTTTTGTGAGAAGGATGGATTTTTGTTGTTGCATTTTTAGACGA AAGATTTATGCTTATATTCTGGTCCATTTACAATATATCATAATACTTTG CAGACAAAGTTATGCTTTTTTCCCAATGATCTAGTGACCTTAATCTCTAA CATTCTGTGGTTTCCTGTTTGGGGAAATGATTGAACAGCAGCCTAAGCTA TTCCAGGCTGCACAGCATTCCCAGTTGGCCTCTATCTGTCTTAGTTTTGA ATGTTCTCCTGTTCACTAATCCAAAAAAAAAATTCTTTTTTAAGGGAATT TTCCCTACAGATGCTAAATCAATGAAACTCCTGCAAATCAGCCCTCCAAA CTTCCTCTTCTGGCTGCTTTACTTATCATTCTTCTATTACAAACTCTAAT GTGGCCAGGAGTTCTTTTGGACTGAAGCAATTAGCATGTCCCACCAGTGC CTTCCCCCTAAGCAGAAAAGAATTAATTTCACTATTATCCAGCTCAACAA ACAATAATTCCCA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02129.hp2 HG02129.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0207 a0010c0017t0001g0207	1	282	0.0036	-10912	c.113 others(19): Show c.1138-9557_1320+1172del		CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/13					chr7	TogoVar
CPVL_chr7_28990235_29151537	29092700	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0246 a0001c0015t0001g0246	1	282	0.0036	0	c.465 others(3): Show c.465G>A	p.Val others(6): Show p.Val155Val	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	6/13	584/2087	465/1431	155/476		chr7	TogoVar
CPXM1_chr20_2789074_2805627	2795271	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	454	0.0022	0	c.186 others(6): Show c.1860+6A>G		CPXM1	ENSG00000088882.8	transcript	ENST00000380605.3	protein_coding	12/13					chr20	TogoVar
CPXM1_chr20_2789074_2805627	2795273	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 NA19043.hp2 HG06807.hp1 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0041 a0004c0006t0001g0065 a0004c0006t0001g0041 a0004c0006t0001g0065	2	454	0.0044	0	c.186 others(6): Show c.1860+4G>A		CPXM1	ENSG00000088882.8	transcript	ENST00000380605.3	protein_coding	12/13					chr20	TogoVar
CPXM1_chr20_2789074_2805627	2800402	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0069 a0001c0014t0001g0069	1	454	0.0022	0	c.171 others(3): Show c.171C>T	p.Asn others(5): Show p.Asn57Asn	CPXM1	ENSG00000088882.8	transcript	ENST00000380605.3	protein_coding	1/14	226/2376	171/2205	57/734		chr20	TogoVar
CPXM2_chr10_123740639_123896807	123842486	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03139.hp1 HG03516.hp1 HG03139.hp1 HG03516.hp1	a0001 a0006 a0001 a0006	a0001c0017 a0006c0016 a0001c0017 a0006c0016	a0001c0017t0001 a0006c0016t0013 a0001c0017t0001 a0006c0016t0013	a0001c0017t0001g0080 a0006c0016t0013g0079 a0001c0017t0001g0080 a0006c0016t0013g0079	2	288	0.0069	0	c.516 others(3): Show c.516G>A	p.Ala others(6): Show p.Ala172Ala	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	4/14	664/3544	516/2271	172/756		chr10	TogoVar
CPZ_chr4_8587765_8624752	8607423	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18959.hp2 NA18959.hp2	a0024 a0024	a0024c0046 a0024c0046	a0024c0046t0001 a0024c0046t0001	a0024c0046t0001g0187 a0024c0046t0001g0187	1	442	0.0023	0	c.122 others(4): Show c.1225A>G	p.Lys others(6): Show p.Lys409Glu	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/11	1294/2163	1225/1959	409/652		chr4	TogoVar
CPZ_chr4_8587765_8624752	8612168	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01891.hp2 HG02145.hp1 others(34): Show HG01884.hp1 HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0004 a0019 a0004 a0019	a0004c0002 a0004c0017 a0004c0018 others(2): Show a0004c0002 a0004c0017 a0004c0018 a0004c0029 a0019c0068	a0004c0002t0002 a0004c0002t0004 a0004c0017t0002 others(3): Show a0004c0002t0002 a0004c0002t0004 a0004c0017t0002 a0004c0018t0004 a0004c0029t0002 a0019c0068t0002	a0004c0002t0002g0018 a0004c0002t0002g0051 a0004c0002t0002g0052 others(28): Show a0004c0002t0002g0018 a0004c0002t0002g0051 a0004c0002t0002g0052 a0004c0002t0002g0053 a0004c0002t0002g0110 a0004c0002t0002g0175 a0004c0002t0002g0177 a0004c0002t0002g0178 a0004c0002t0002g0179 a0004c0002t0002g0180 a0004c0002t0002g0181 a0004c0002t0002g0184 a0004c0002t0002g0191 a0004c0002t0002g0231 a0004c0002t0002g0232 a0004c0002t0004g0208 a0004c0002t0004g0209 a0004c0002t0004g0210 a0004c0002t0004g0211 a0004c0002t0004g0212 a0004c0002t0004g0214 a0004c0002t0004g0217 a0004c0002t0004g0218 a0004c0017t0002g0190 a0004c0017t0002g0219 a0004c0017t0002g0220 a0004c0018t0004g0213 a0004c0018t0004g0215 a0004c0018t0004g0216 a0004c0029t0002g0058 a0019c0068t0002g0246	37	442	0.0837	0	c.136 others(6): Show c.1363+6G>T		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	8/10					chr4	TogoVar
CPZ_chr4_8587765_8624752	8614305	GGCTGTCT others(28): Show GGCTGTCTCTGTGCGGCTGACACCCCTGACGTCCCC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02896.hp1 HG01884.hp2 HG02896.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0223 a0001c0012t0002g0224 a0001c0012t0002g0223 a0001c0012t0002g0224	2	442	0.0045	-35	c.136 others(49): Show c.1364-40_1364-6delGGCTGACACCCCTGACGTCCCCGCTGTCTCT GTGC		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	8/10				INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8614497	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG01891.hp2 HG02145.hp1 others(35): Show HG01884.hp1 HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0004 a0019 a0021 a0004 a0019 a0021	a0004c0002 a0004c0017 a0004c0018 others(3): Show a0004c0002 a0004c0017 a0004c0018 a0004c0029 a0019c0068 a0021c0056	a0004c0002t0002 a0004c0002t0004 a0004c0017t0002 others(4): Show a0004c0002t0002 a0004c0002t0004 a0004c0017t0002 a0004c0018t0004 a0004c0029t0002 a0019c0068t0002 a0021c0056t0004	a0004c0002t0002g0018 a0004c0002t0002g0051 a0004c0002t0002g0052 others(29): Show a0004c0002t0002g0018 a0004c0002t0002g0051 a0004c0002t0002g0052 a0004c0002t0002g0053 a0004c0002t0002g0110 a0004c0002t0002g0175 a0004c0002t0002g0177 a0004c0002t0002g0178 a0004c0002t0002g0179 a0004c0002t0002g0180 a0004c0002t0002g0181 a0004c0002t0002g0184 a0004c0002t0002g0191 a0004c0002t0002g0231 a0004c0002t0002g0232 a0004c0002t0004g0208 a0004c0002t0004g0209 a0004c0002t0004g0210 a0004c0002t0004g0211 a0004c0002t0004g0212 a0004c0002t0004g0214 a0004c0002t0004g0217 a0004c0002t0004g0218 a0004c0017t0002g0190 a0004c0017t0002g0219 a0004c0017t0002g0220 a0004c0018t0004g0213 a0004c0018t0004g0215 a0004c0018t0004g0216 a0004c0029t0002g0058 a0019c0068t0002g0246 a0021c0056t0004g0207	38	442	0.0860	0	c.150 others(4): Show c.1502C>T	p.Thr others(6): Show p.Thr501Met	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	9/11	1571/2163	1502/1959	501/652		chr4	TogoVar
CPZ_chr4_8587765_8624752	8618426	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00558.hp1 HG00609.hp1 others(25): Show HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02165.hp1 HG03491.hp1 HG03492.hp2 NA18947.hp1 NA18950.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19055.hp2 NA19072.hp2 NA19081.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0008 a0002c0004t0002 a0001c0001t0002 a0001c0001t0008 a0002c0004t0002	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(18): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0065 a0001c0001t0002g0154 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0008g0068 a0002c0004t0002g0259	28	442	0.0634	0	c.150 others(6): Show c.1504-3C>T		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	9/10					chr4	TogoVar
CPZ_chr4_8587765_8624752	8619254	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0206 a0001c0044t0002g0206	1	442	0.0023	0	c.160 others(6): Show c.1604-8G>T		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	10/10					chr4	TogoVar
CP_chr3_149167497_149226829	149173734	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02615.hp2 HG02809.hp1 others(1): Show HG02055.hp2 HG02615.hp2 HG02809.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0006 a0006c0008t0006 a0001c0001t0006 a0006c0008t0006	a0001c0001t0006g0267 a0001c0001t0006g0284 a0006c0008t0006g0220 others(1): Show a0001c0001t0006g0267 a0001c0001t0006g0284 a0006c0008t0006g0220 a0006c0008t0006g0340	4	376	0.0106	0	c.318 others(6): Show c.3182-4A>G		CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding	18/18					chr3	TogoVar
CP_chr3_149167497_149226829	149206338	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0066 a0001c0025t0001g0066	1	376	0.0027	0	c.103 others(4): Show c.1038C>T	p.Ala others(6): Show p.Ala346Ala	CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding	6/19	1075/4452	1038/3198	346/1065		chr3	TogoVar
CR1_chr1_207491157_207646765	207511570	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18962.hp2 NA18962.hp2	a0031 a0031	a0031c0033 a0031c0033	a0031c0033t0003 a0031c0033t0003	a0031c0033t0003g0308 a0031c0033t0003g0308	1	360	0.0028	0	c.403 others(3): Show c.403T>C	p.Tyr others(6): Show p.Tyr135His	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	4/47	514/9937	403/7470	135/2489		chr1	TogoVar
CR1_chr1_207491157_207646765	207524016	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01167.hp1 HG01169.hp1 others(4): Show HG00735.hp2 HG01167.hp1 HG01169.hp1 HG02055.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp1	a0019 a0021 a0034 others(1): Show a0019 a0021 a0034 a0035	a0019c0019 a0021c0035 a0021c0050 others(2): Show a0019c0019 a0021c0035 a0021c0050 a0034c0049 a0035c0048	a0019c0019t0002 a0021c0035t0005 a0021c0050t0005 others(2): Show a0019c0019t0002 a0021c0035t0005 a0021c0050t0005 a0034c0049t0005 a0035c0048t0005	a0019c0019t0002g0188 a0019c0019t0002g0189 a0019c0019t0002g0190 others(4): Show a0019c0019t0002g0188 a0019c0019t0002g0189 a0019c0019t0002g0190 a0021c0035t0005g0066 a0021c0050t0005g0256 a0034c0049t0005g0067 a0035c0048t0005g0068	7	360	0.0194	0	c.886 others(5): Show c.886+7C>T		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	5/46					chr1	TogoVar
CR1_chr1_207491157_207646765	207528809	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp2 HG02895.hp2	a0032 a0032	a0032c0047 a0032c0047	a0032c0047t0002 a0032c0047t0002	a0032c0047t0002g0349 a0032c0047t0002g0349	1	360	0.0028	0	c.125 others(6): Show c.1252+8G>A		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	8/46					chr1	TogoVar
CR1_chr1_207491157_207646765	207547364	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01167.hp1 HG01169.hp1 others(14): Show HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01496.hp2 HG02055.hp2 HG02083.hp2 HG02257.hp2 HG02630.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03710.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1	a0015 a0019 a0021 others(7): Show a0015 a0019 a0021 a0022 a0034 a0035 a0036 a0039 a0044 a0054	a0015c0053 a0015c0054 a0015c0055 others(11): Show a0015c0053 a0015c0054 a0015c0055 a0015c0057 a0019c0019 a0021c0035 a0021c0050 a0022c0029 a0034c0049 a0035c0048 a0036c0038 a0039c0064 a0044c0072 a0054c0076	a0015c0053t0009 a0015c0054t0009 a0015c0055t0002 others(12): Show a0015c0053t0009 a0015c0054t0009 a0015c0055t0002 a0015c0057t0002 a0019c0019t0002 a0021c0035t0005 a0021c0050t0005 a0022c0029t0004 a0022c0029t0007 a0034c0049t0005 a0035c0048t0005 a0036c0038t0016 a0039c0064t0003 a0044c0072t0002 a0054c0076t0002	a0015c0053t0009g0071 a0015c0054t0009g0072 a0015c0055t0002g0070 others(14): Show a0015c0053t0009g0071 a0015c0054t0009g0072 a0015c0055t0002g0070 a0015c0057t0002g0034 a0019c0019t0002g0188 a0019c0019t0002g0189 a0019c0019t0002g0190 a0021c0035t0005g0066 a0021c0050t0005g0256 a0022c0029t0004g0224 a0022c0029t0007g0130 a0034c0049t0005g0067 a0035c0048t0005g0068 a0036c0038t0016g0060 a0039c0064t0003g0247 a0044c0072t0002g0304 a0054c0076t0002g0065	17	360	0.0472	0	c.260 others(6): Show c.2602+8G>A		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	16/46					chr1	TogoVar
CR1_chr1_207491157_207646765	207552147	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0003 a0017c0022t0001 a0017c0022t0003	a0017c0022t0001g0048 a0017c0022t0003g0049 a0017c0022t0001g0048 a0017c0022t0003g0049	2	360	0.0056	0	c.300 others(6): Show c.3001+4C>T		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	18/46					chr1	TogoVar
CR1_chr1_207491157_207646765	207565931	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp1 HG03486.hp2 HG03209.hp1 HG03486.hp2	a0029 a0029	a0029c0026 a0029c0026	a0029c0026t0001 a0029c0026t0001	a0029c0026t0001g0013 a0029c0026t0001g0014 a0029c0026t0001g0013 a0029c0026t0001g0014	2	360	0.0056	0	c.395 others(6): Show c.3952+8A>G		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	24/46					chr1	TogoVar
CR1_chr1_207491157_207646765	207577798	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp1 HG01943.hp1 HG01981.hp2 others(2): Show HG01255.hp1 HG01943.hp1 HG01981.hp2 HG02040.hp1 NA20300.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0002 a0012c0013t0007 others(1): Show a0012c0013t0001 a0012c0013t0002 a0012c0013t0007 a0012c0013t0013	a0012c0013t0001g0041 a0012c0013t0001g0255 a0012c0013t0002g0191 others(2): Show a0012c0013t0001g0041 a0012c0013t0001g0255 a0012c0013t0002g0191 a0012c0013t0007g0042 a0012c0013t0013g0006	5	360	0.0139	0	c.453 others(6): Show c.4538-7T>G		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	28/46					chr1	TogoVar

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