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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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
A2ML1_chr12_8817621_8881787	8857942	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp1 HG01928.hp2 HG02080.hp2 others(10): Show HG00609.hp1 HG01928.hp2 HG02080.hp2 NA18946.hp2 NA18959.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA19084.hp2	a0001 a0041 a0001 a0041	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0041c0059	a0001c0001t0002 a0001c0002t0002 a0001c0006t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0006t0002 a0041c0059t0002	a0001c0001t0002g0180 a0001c0001t0002g0289 a0001c0002t0002g0162 others(10): Show a0001c0001t0002g0180 a0001c0001t0002g0289 a0001c0002t0002g0162 a0001c0002t0002g0214 a0001c0002t0002g0294 a0001c0002t0002g0307 a0001c0002t0002g0310 a0001c0002t0002g0334 a0001c0006t0002g0009 a0001c0006t0002g0226 a0001c0006t0002g0229 a0001c0006t0002g0231 a0041c0059t0002g0335	13	368	0.0353	1	c.310 others(7): Show c.3108-3dupT		A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	25/35				INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL3_chr1_12711110_12733760	12716215	C C	A A	stop_gained stop_gained	HIGH	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02523.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp2 HG03654.hp1 HG04199.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0018 others(4): Show a0002c0003 a0002c0004 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0022	a0002c0003t0003 a0002c0003t0005 a0002c0003t0039 others(11): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0039 a0002c0004t0002 a0002c0004t0023 a0002c0004t0026 a0002c0004t0041 a0002c0018t0003 a0002c0018t0047 a0002c0019t0017 a0002c0020t0002 a0002c0020t0042 a0002c0021t0024 a0002c0022t0002	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0136 others(26): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0136 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0145 a0002c0003t0039g0005 a0002c0004t0002g0006 a0002c0004t0002g0011 a0002c0004t0002g0020 a0002c0004t0002g0030 a0002c0004t0002g0058 a0002c0004t0002g0072 a0002c0004t0002g0088 a0002c0004t0002g0090 a0002c0004t0002g0137 a0002c0004t0023g0006 a0002c0004t0026g0030 a0002c0004t0041g0011 a0002c0018t0003g0005 a0002c0018t0047g0086 a0002c0019t0017g0007 a0002c0020t0002g0020 a0002c0020t0042g0020 a0002c0021t0024g0084 a0002c0022t0002g0020	73	432	0.1690	0	c.39C others(2): Show c.39C>A	p.Cys others(3): Show p.Cys13*	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	106/4055	39/1224	13/407		chr1	TogoVar
ABCB5_chr7_20610667_20762008	20626612	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(68): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02735.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(11): Show a0002 a0003 a0005 a0008 a0011 a0013 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046	a0002c0003 a0003c0002 a0003c0010 others(14): Show a0002c0003 a0003c0002 a0003c0010 a0005c0015 a0008c0009 a0008c0027 a0011c0017 a0013c0022 a0013c0023 a0039c0058 a0040c0050 a0041c0055 a0042c0052 a0043c0054 a0044c0056 a0045c0051 a0046c0057	a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 others(20): Show a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0003c0010t0002 a0005c0015t0004 a0008c0009t0001 a0008c0009t0002 a0008c0027t0001 a0008c0027t0002 a0011c0017t0007 a0013c0022t0001 a0013c0022t0021 a0013c0023t0001 a0039c0058t0001 a0040c0050t0001 a0041c0055t0001 a0042c0052t0002 a0043c0054t0001 a0044c0056t0001 a0045c0051t0001 a0046c0057t0008	a0002c0003t0001g0349 a0003c0002t0001g0117 a0003c0002t0001g0137 others(68): Show a0002c0003t0001g0349 a0003c0002t0001g0117 a0003c0002t0001g0137 a0003c0002t0001g0192 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0197 a0003c0002t0001g0198 a0003c0002t0001g0201 a0003c0002t0001g0204 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0209 a0003c0002t0001g0210 a0003c0002t0001g0218 a0003c0002t0001g0223 a0003c0002t0001g0224 a0003c0002t0001g0227 a0003c0002t0001g0229 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0236 a0003c0002t0001g0312 a0003c0002t0001g0315 a0003c0002t0001g0321 a0003c0002t0001g0322 a0003c0002t0001g0326 a0003c0002t0001g0338 a0003c0002t0002g0191 a0003c0002t0002g0212 a0003c0002t0002g0225 a0003c0002t0002g0323 a0003c0002t0015g0318 a0003c0010t0001g0131 a0003c0010t0001g0203 a0003c0010t0001g0240 a0003c0010t0001g0317 a0003c0010t0001g0327 a0003c0010t0002g0193 a0003c0010t0002g0226 a0003c0010t0002g0316 a0003c0010t0002g0328 a0005c0015t0004g0310 a0008c0009t0001g0199 a0008c0009t0001g0206 a0008c0009t0001g0216 a0008c0009t0001g0221 a0008c0009t0001g0228 a0008c0009t0001g0230 a0008c0009t0001g0350 a0008c0009t0002g0211 a0008c0009t0002g0215 a0008c0009t0002g0222 a0008c0027t0001g0324 a0008c0027t0002g0314 a0011c0017t0007g0052 a0013c0022t0001g0217 a0013c0022t0021g0202 a0013c0023t0001g0213 a0013c0023t0001g0219 a0013c0023t0001g0220 a0039c0058t0001g0325 a0040c0050t0001g0313 a0041c0055t0001g0238 a0042c0052t0002g0239 a0043c0054t0001g0205 a0044c0056t0001g0200 a0045c0051t0001g0214 a0046c0057t0008g0237	71	360	0.1972	0	c.108 others(5): Show c.108+1G>C		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	3/27					chr7	TogoVar
ACSM2A_chr16_20446521_20492669	20465682	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show HG00673.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG03831.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18968.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19067.hp2 NA19068.hp1 NA19080.hp1 NA19082.hp1 NA19086.hp2 NA19091.hp2	a0006 a0006	a0006c0006 a0006c0016 a0006c0006 a0006c0016	a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 others(2): Show a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 a0006c0006t0019 a0006c0016t0002	a0006c0006t0002g0036 a0006c0006t0002g0037 a0006c0006t0002g0270 others(28): Show a0006c0006t0002g0036 a0006c0006t0002g0037 a0006c0006t0002g0270 a0006c0006t0002g0338 a0006c0006t0002g0343 a0006c0006t0002g0347 a0006c0006t0002g0348 a0006c0006t0002g0349 a0006c0006t0002g0350 a0006c0006t0002g0353 a0006c0006t0002g0354 a0006c0006t0002g0361 a0006c0006t0002g0362 a0006c0006t0002g0363 a0006c0006t0002g0364 a0006c0006t0002g0365 a0006c0006t0002g0366 a0006c0006t0002g0367 a0006c0006t0002g0368 a0006c0006t0002g0369 a0006c0006t0003g0012 a0006c0006t0003g0035 a0006c0006t0003g0352 a0006c0006t0003g0359 a0006c0006t0003g0373 a0006c0006t0009g0346 a0006c0006t0009g0356 a0006c0006t0009g0374 a0006c0006t0019g0344 a0006c0016t0002g0358 a0006c0016t0002g0360	34	436	0.0780	0	c.343 others(3): Show c.343C>T	p.Arg others(4): Show p.Arg115*	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	3/14	512/2894	343/1734	115/577		chr16	TogoVar
AFDN_chr6_167821911_167977023	167951476	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01109.hp2 HG02622.hp2 others(6): Show HG00642.hp2 HG01109.hp2 HG02622.hp2 HG03942.hp1 NA18946.hp2 NA18980.hp1 NA18985.hp2 NA19072.hp2 NA19083.hp1	a0002 a0002	a0002c0013 a0002c0014 a0002c0017 others(4): Show a0002c0013 a0002c0014 a0002c0017 a0002c0022 a0002c0028 a0002c0029 a0002c0030	a0002c0013t0001 a0002c0013t0002 a0002c0014t0001 others(5): Show a0002c0013t0001 a0002c0013t0002 a0002c0014t0001 a0002c0017t0005 a0002c0022t0001 a0002c0028t0001 a0002c0029t0001 a0002c0030t0001	a0002c0013t0001g0034 a0002c0013t0002g0267 a0002c0014t0001g0020 others(6): Show a0002c0013t0001g0034 a0002c0013t0002g0267 a0002c0014t0001g0020 a0002c0014t0001g0037 a0002c0017t0005g0285 a0002c0022t0001g0036 a0002c0028t0001g0159 a0002c0029t0001g0323 a0002c0030t0001g0100	9	326	0.0276	1	c.412 others(5): Show c.4127dupC	p.Pro others(6): Show p.Pro1377fs	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	4350/7806	4128/5496	1376/1831	INFO_REALIGN_3_PRIME	chr6	TogoVar
AGAP5_chr10_73669295_73703109	73674703	G G	A A	stop_gained stop_gained	HIGH	HG00544.hp1 HG02074.hp2 HG02258.hp2 others(11): Show HG00544.hp1 HG02074.hp2 HG02258.hp2 NA18612.hp2 NA18946.hp2 NA18961.hp1 NA18965.hp2 NA18971.hp1 NA18987.hp2 NA19001.hp1 NA19012.hp2 NA19057.hp2 NA19076.hp2 NA19078.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0214 a0004c0004t0002g0008 a0004c0004t0002g0022 others(7): Show a0004c0004t0001g0214 a0004c0004t0002g0008 a0004c0004t0002g0022 a0004c0004t0002g0044 a0004c0004t0002g0045 a0004c0004t0002g0046 a0004c0004t0002g0047 a0004c0004t0002g0048 a0004c0004t0002g0049 a0004c0004t0002g0050	14	368	0.0380	0	c.195 others(4): Show c.1957C>T	p.Arg others(4): Show p.Arg653*	AGAP5	ENSG00000172650.15	transcript	ENST00000374094.9	protein_coding	8/8	2311/2719	1957/2061	653/686		chr10	TogoVar
AICDA_chr12_8597170_8617859	8605412	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01261.hp1 HG01361.hp2 HG01934.hp2 others(24): Show HG01261.hp1 HG01361.hp2 HG01934.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG03098.hp2 HG03225.hp2 HG03490.hp1 NA18941.hp1 NA18946.hp1 NA18954.hp1 NA18965.hp2 NA18973.hp2 NA18985.hp1 NA19005.hp2 NA19056.hp2 NA19072.hp1 NA19083.hp1 NA19091.hp1 NA20129.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0002c0004 a0007c0010 a0002c0003 a0002c0004 a0007c0010	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(5): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0010 a0002c0003t0023 a0002c0004t0001 a0002c0004t0008 a0007c0010t0003	a0002c0003t0001g0036 a0002c0003t0001g0045 a0002c0003t0001g0085 others(21): Show a0002c0003t0001g0036 a0002c0003t0001g0045 a0002c0003t0001g0085 a0002c0003t0001g0089 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0177 a0002c0003t0001g0238 a0002c0003t0001g0256 a0002c0003t0002g0183 a0002c0003t0002g0202 a0002c0003t0003g0035 a0002c0003t0010g0088 a0002c0003t0023g0288 a0002c0004t0001g0094 a0002c0004t0001g0102 a0002c0004t0001g0131 a0002c0004t0001g0159 a0002c0004t0001g0198 a0002c0004t0001g0203 a0002c0004t0001g0206 a0002c0004t0008g0127 a0002c0004t0008g0145 a0007c0010t0003g0144	27	458	0.0590	1	c.229 others(4): Show c.229dupC	p.Arg others(4): Show p.Arg77fs	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	3/5	321/2803	229/597	77/198		chr12	TogoVar
AMBN_chr4_70587256_70612288	70606698	ATGCATGA others(49): Show ATGCATGACGCATGGCATTTCCAAGAGCCCTGACAGCTCTAAGATATTAG CTACTTT	A A	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	NA18946.hp1 NA18946.hp1	a0000 a0000	a0000c0026 a0000c0026	a0000c0026t0013 a0000c0026t0013	a0000c0026t0013g0186 a0000c0026t0013g0186	1	480	0.0021	-56	c.131 others(64): Show c.1313_*24delTGCATGACGCATGGCATTTCCAAGAGCCCTGACAGCT CTAAGATATTAGCTACTTT	p.Met others(5): Show p.Met438fs	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1416/2005	1313/1344	438/447		chr4	TogoVar
ANKRD36C_chr2_95844548_95996824	95918788	GTTAGATA others(1872): Show GTTAGATATTGAGCAGTTTTTCATTCAGAAATCACTGCAATATTCATTGA AAATGACCATTTTAGGAGTTAATTAGAATTCAACATAATTTTTGTTTCTA AAACATGATACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAGTTTCAT GAAATAGCTATTTCACCCAAGAGGTAGCTCCTGGAACAAGGAAGCCAATG TATTCATATTCAAGTTTATCTCATTTTTATAAGTAAAGTCAACAAAACAT GTATCTCTGATGCCTAATAGTAACAAAAAGGAGTAATGAGTCAGTGTGCT TTATCCCAATTCTAGCATTGTTTCCTGCTTCCAGTAGTTCCTGGAGCTGC CAAAATCAAATATTTTTTAAGCACATATTCCAAATGCAAGTGAAGTGAGT TCACTCAGATTTCCTCAGCAGAAACCCCTAAATTATATAAATAACTTCTT TTCCCTCCTTCCTGCCTGACAATCCATCATCCTTGGGAAAATAATTGCTA CATCAGGGGTCTCCTTAGTTCTCCTTCTACAGTGTCTATAGGTTATTAAT ATCAGTTTTCTGTCTTTTCTTAGCAGTACGATGTGACGTCTGTAAAATCT GTACTTCCTCTCTTTCTCCTTCCACCCTTAGTGAAACCATGCTGTAGAAT TAATGCAAAACTATGCTGTTCCCCAGAACCCCTTATGTCTTGAACTGCTC TCCCTATTTCTTCTTCCCAATTTCAATGTGGGAAAGTGTATAATCTTACT GCAAAGATCATGTTCCAGGCCAACAGCATTAGCGTCTCCCAAGAAATTTA TTACAAATGAAAAATCTCAGGCCTGCTGAATCAGAATGTGCAGCTTCGGC GACTCCCCCCACCCACCCTCCGCTGATTTATTCGGGATAGAGAAGTTCTT TTTTATCTGGATTGAACATGACATTGAATGTGTTTTGCAAATTACCTGTC TCAGATTTTTCTCCATCCTTTATTTCTGTGGCTATATTCAAAACAGAATC TTCCTCGTCAGTTGTAGCCTGAATGGAATTTGAAAGAAAATAATAAATAA ATAAATCAATGAAGTATGTGTCATAGACTACAATGTAAATGAGAGTTTAA TTACCTTCAAGGCTGGTTGTTTCTGAGAAGACACTGAAAAGCAAAAGGGA TACATAATCACTCATATATAAATATGATAAAGTTATCCATACATTCACAC AGTGTTAGCATCAAGCTGTATCCTTCTGCCTGTACTAGTGTAGGCTCTGA TGTCTTCTACTTTGTGTCTTGGGACTGGAACATGACAGAAATACACTGGT AAGAGGGAATACAGGCTCCATCAAATATATCCTTACAATTTCAAACATGG TATGATTCATCATACGTCAAAAACTAAAATAAAACCGTGTCAATATCAAC GTGGATATGCCGAGTGATGAGGACAAACTGATCTAAAATCGGAGGAGCAA CTCATACACGTGAGAATCAATGTCAAAGCAGGTGCTACATGATCCCACAT GTCTTTCGTGCAACAAATCAAAAGAATTTACATCATTATACTACAAACAT TCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAGTTACCA TGGCACTTCAGTTGAATGTACACTTCACATCCCCTTCAGTGGAAGTGTCC TAAATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAATATT CATTATCTCTCACACCCATGTGGTGTAATAATTTGCCTAAGTTTCTTGTA TCCACTAGTTTATCCCTCTGAAACTTTCTTCATCATGTCATGGCACCAAA GGATAATATATTAGCCTCAATAAAAATATCATCAACTATCAATTTTGACA TACTTCTACAAAGTAAAACTGCTACAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0004 a0008 others(9): Show a0002 a0004 a0008 a0013 a0021 a0022 a0023 a0025 a0036 a0037 a0039 a0040	a0002c0004 a0002c0007 a0002c0013 others(14): Show a0002c0004 a0002c0007 a0002c0013 a0004c0003 a0004c0021 a0004c0029 a0008c0012 a0008c0020 a0013c0014 a0021c0041 a0022c0023 a0023c0019 a0025c0034 a0036c0040 a0037c0039 a0039c0043 a0040c0044	a0002c0004t0001 a0002c0007t0001 a0002c0013t0001 others(14): Show a0002c0004t0001 a0002c0007t0001 a0002c0013t0001 a0004c0003t0001 a0004c0021t0001 a0004c0029t0001 a0008c0012t0001 a0008c0020t0001 a0013c0014t0001 a0021c0041t0001 a0022c0023t0001 a0023c0019t0002 a0025c0034t0001 a0036c0040t0001 a0037c0039t0001 a0039c0043t0001 a0040c0044t0001	a0002c0004t0001g0003 a0002c0004t0001g0019 a0002c0004t0001g0021 others(96): Show a0002c0004t0001g0003 a0002c0004t0001g0019 a0002c0004t0001g0021 a0002c0004t0001g0022 a0002c0004t0001g0181 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0190 a0002c0004t0001g0191 a0002c0004t0001g0200 a0002c0004t0001g0201 a0002c0004t0001g0202 a0002c0004t0001g0203 a0002c0004t0001g0215 a0002c0004t0001g0217 a0002c0004t0001g0222 a0002c0004t0001g0228 a0002c0004t0001g0238 a0002c0004t0001g0240 a0002c0004t0001g0249 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0265 a0002c0004t0001g0268 a0002c0004t0001g0271 a0002c0007t0001g0002 a0002c0007t0001g0205 a0002c0007t0001g0206 a0002c0007t0001g0207 a0002c0007t0001g0210 a0002c0007t0001g0211 a0002c0007t0001g0212 a0002c0007t0001g0213 a0002c0007t0001g0214 a0002c0007t0001g0239 a0002c0007t0001g0259 a0002c0007t0001g0260 a0002c0007t0001g0261 a0002c0007t0001g0262 a0002c0013t0001g0182 a0002c0013t0001g0196 a0002c0013t0001g0197 a0002c0013t0001g0241 a0004c0003t0001g0183 a0004c0003t0001g0189 a0004c0003t0001g0192 a0004c0003t0001g0194 a0004c0003t0001g0204 a0004c0003t0001g0216 a0004c0003t0001g0219 a0004c0003t0001g0223 a0004c0003t0001g0224 a0004c0003t0001g0227 a0004c0003t0001g0229 a0004c0003t0001g0230 a0004c0003t0001g0231 a0004c0003t0001g0233 a0004c0003t0001g0235 a0004c0003t0001g0236 a0004c0003t0001g0237 a0004c0003t0001g0243 a0004c0003t0001g0244 a0004c0003t0001g0245 a0004c0003t0001g0246 a0004c0003t0001g0247 a0004c0003t0001g0248 a0004c0003t0001g0250 a0004c0003t0001g0251 a0004c0003t0001g0252 a0004c0003t0001g0256 a0004c0003t0001g0257 a0004c0003t0001g0258 a0004c0003t0001g0269 a0004c0003t0001g0272 a0004c0021t0001g0234 a0004c0021t0001g0242 a0004c0029t0001g0005 a0008c0012t0001g0187 a0008c0012t0001g0188 a0008c0012t0001g0208 a0008c0012t0001g0209 a0008c0020t0001g0193 a0008c0020t0001g0253 a0013c0014t0001g0195 a0013c0014t0001g0198 a0013c0014t0001g0266 a0021c0041t0001g0173 a0022c0023t0001g0225 a0022c0023t0001g0226 a0023c0019t0002g0218 a0023c0019t0002g0267 a0025c0034t0001g0232 a0036c0040t0001g0220 a0037c0039t0001g0221 a0039c0043t0001g0270 a0040c0044t0001g0199	101	298	0.3389	-1879	c.224 others(17): Show c.2246-747_2348-747del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88					chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97188507	GGTGAGAG others(1883): Show GGTGAGAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCA AGGTGATCAATTTAGGACACTTCCACTGAAGAGATGTGAAGTATACGTTC AACTGAATTGTCGTGGTAACTGTGTGCCTTCTCAGTTATTGGGCAAGTTA AAGAGCATGATGAATGTTTGTAGTACAATGGTGTAAATCCTTTTGATTTC CTGCATGAAAGACATGTGGGATCATGTAGCACCTGCTTTGACATTGATTC TCACATGTATGAGTTGCTCCTCTGATTTTAGATCACTTTGTCCTCATCAC TCGGCATATCCACATTGATATTGACACGGTTTTATTTTAGTTTTCGACAT ATGACGAATCATACCATGTTTGAAATTGTAAGGATATATTTCATGGAGCC TGTATTCCCTTTTACCAGTGTATTTCTGTCATGTTCCAGTCCCAAGAGAC AAAGTAGAAGACATCAGAGCCTACACTAGTACAGGCAGAAGGATACAGCT GGATGCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATAT GAGTGATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCAGAAGCAACCA GCCTTGAAGGTAATTAAACTCTCGTTTACATTGTGAACTAGTAATTCTAT AGTCTATGAAACATACTTCATTGATTTATTTATTTATTATTTTCTTTCAA ATTCCATTAAGGCTACAACTGACGAGGAAGATTCTGTTTCGAATATAGCC ACAGAAATAAAGGATGGAGAAAAATCTGGGACAGGTAATTTTGCAAAACA CATTCAATGTCATGTTCAATCCAGATAGAAAAGAACTTCTCTACCCCGAA TAAATCAGCGGAGGGTGGGTGGGGGGCTCGCCTAATCTGCACATTCTGAT TCAGCAGGCCTGAGAGTCTTCATTTGTAATAAATTCCTGGGTGACGCTAA TGCTGCTGGCTTGGAACGTGATCTTCGCAGTAAGATTATACACTTCCCCA CATTGAAATTGGGAAGAAGATACATGGAGAGAGGTTCAAGACATAAGGGG CTCTGGGGAACAGCATAGTTTTGCTTTAATTCTACAGCATGGTTTCACTA AGGGTGGAAGAAGAAAGAGAGGAAGTATAGATTCTACAGACGTCACATAG TACTGCTAAGAAAAGACAGAGAACTGATAGTAATAACCCATAGACACTGT AGAACGAGAACTAAGGAGACCCCTGATGTAGCAATTATTTTCCCAAGGAA GATGGATTGTCAGACAGGAAGGAGGGAAAAGAAGTTATTTATATAATTTA GGGGTTTCTGCTGAGGAAATCTGAGTGAACTCACTTCACATGCATTTGGA ATATGTGCCTAAAAAATATTTGATTTTGGCAGCTCCAGGAATTACTGGAA GCAGGAAACAATGCTAGAATTGGGATAAAGCACACTGACTCATTACTCCT TTTTGTTACTATTAGGCATCAGAGATACATGTTTTGTTGACTTTACTTAT AAAAATGAGATAAAGTTGAATATGAATACATTGGCTTCCTTGTTCAAGGA GCTACCTCTTGGATAAAATAGCTATTTCATGAAACTTCTATAGAGAACAA CATGATACTCCCAAGAAGGCTATTTTAGAAACAAAAATTATGTTGAATTC TAATTAACTCCTAAAATGGTAATTTTCAATGAATATTGCAGTGATTTCTG AATGAAAAACTGATTAATATCTAATGCTTGTAGCAGTTTTACTTTGTAGA AGTATGTCAAAATTGATAATTGATGATATTTTTATTGAGGCTGATATATT ATCCTTTGGTGCCACGACTGGATGAAGAAACTTTCGGAGGGATAAACTAG TGGATACAAGAAACTTAGGCAAATTATTACAACACATGGGT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show HG00099.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02897.hp1 HG03225.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG04228.hp2 NA18612.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18972.hp1 NA18973.hp1 NA18991.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp1 NA19074.hp1 NA20905.hp1	a0003 a0006 a0007 others(6): Show a0003 a0006 a0007 a0014 a0017 a0025 a0027 a0028 a0032	a0003c0003 a0006c0008 a0006c0034 others(7): Show a0003c0003 a0006c0008 a0006c0034 a0007c0007 a0014c0014 a0017c0017 a0025c0057 a0027c0028 a0028c0056 a0032c0054	a0003c0003t0001 a0006c0008t0001 a0006c0008t0009 others(8): Show a0003c0003t0001 a0006c0008t0001 a0006c0008t0009 a0006c0034t0001 a0007c0007t0001 a0014c0014t0001 a0017c0017t0001 a0025c0057t0001 a0027c0028t0001 a0028c0056t0001 a0032c0054t0001	a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0142 others(44): Show a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0149 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0172 a0003c0003t0001g0181 a0006c0008t0001g0004 a0006c0008t0001g0005 a0006c0008t0001g0006 a0006c0008t0001g0007 a0006c0008t0001g0147 a0006c0008t0001g0148 a0006c0008t0009g0146 a0006c0034t0001g0173 a0007c0007t0001g0137 a0007c0007t0001g0138 a0007c0007t0001g0139 a0007c0007t0001g0140 a0007c0007t0001g0141 a0007c0007t0001g0164 a0007c0007t0001g0180 a0007c0007t0001g0207 a0014c0014t0001g0150 a0014c0014t0001g0154 a0014c0014t0001g0155 a0014c0014t0001g0156 a0017c0017t0001g0145 a0017c0017t0001g0169 a0017c0017t0001g0170 a0025c0057t0001g0134 a0027c0028t0001g0161 a0028c0056t0001g0171 a0032c0054t0001g0165	47	212	0.2217	-1890	c.214 others(17): Show c.2144-494_2246-496del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	33/76				INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97224796	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(32): Show a0000 a0001 a0002 a0004 a0005 a0008 a0010 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0035 a0036 a0037 a0040 a0041 a0042 a0043 a0044 a0045 a0047 a0048 a0049 a0051 a0052	a0000c0016 a0001c0001 a0001c0036 others(40): Show a0000c0016 a0001c0001 a0001c0036 a0001c0044 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0010c0012 a0010c0059 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0016c0023 a0016c0053 a0018c0018 a0019c0031 a0019c0032 a0020c0022 a0021c0021 a0022c0020 a0023c0019 a0024c0060 a0026c0058 a0029c0055 a0030c0052 a0035c0062 a0036c0041 a0037c0040 a0040c0047 a0041c0045 a0042c0043 a0043c0039 a0044c0038 a0045c0049 a0047c0033 a0048c0030 a0049c0029 a0051c0027 a0052c0026	a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 others(46): Show a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0036t0001 a0001c0044t0001 a0001c0046t0002 a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0010c0012t0001 a0010c0059t0001 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0016c0023t0001 a0016c0053t0001 a0018c0018t0002 a0019c0031t0007 a0019c0032t0007 a0020c0022t0002 a0021c0021t0002 a0022c0020t0001 a0023c0019t0003 a0024c0060t0002 a0026c0058t0001 a0029c0055t0002 a0030c0052t0002 a0035c0062t0004 a0036c0041t0001 a0037c0040t0002 a0040c0047t0001 a0041c0045t0001 a0042c0043t0002 a0043c0039t0001 a0044c0038t0001 a0045c0049t0001 a0047c0033t0002 a0048c0030t0002 a0049c0029t0001 a0051c0027t0001 a0052c0026t0003	a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 others(144): Show a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 a0000c0016t0006g0119 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0007g0100 a0001c0036t0001g0080 a0001c0044t0001g0001 a0001c0046t0002g0051 a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0010c0012t0001g0072 a0010c0012t0001g0075 a0010c0012t0001g0083 a0010c0012t0001g0092 a0010c0012t0001g0103 a0010c0059t0001g0090 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0016c0023t0001g0091 a0016c0023t0001g0093 a0016c0053t0001g0104 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0019c0031t0007g0126 a0019c0032t0007g0127 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0022c0020t0001g0097 a0022c0020t0001g0098 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0026c0058t0001g0074 a0029c0055t0002g0023 a0030c0052t0002g0128 a0035c0062t0004g0042 a0036c0041t0001g0113 a0037c0040t0002g0211 a0040c0047t0001g0082 a0041c0045t0001g0110 a0042c0043t0002g0210 a0043c0039t0001g0008 a0044c0038t0001g0067 a0045c0049t0001g0120 a0047c0033t0002g0025 a0048c0030t0002g0003 a0049c0029t0001g0122 a0051c0027t0001g0071 a0052c0026t0003g0193	147	212	0.6934	1	c.387 others(7): Show c.3878-3dupT		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	66/75				INFO_REALIGN_3_PRIME	chr2	TogoVar
ANLN_chr7_36384862_36458791	36425997	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG01934.hp2 HG02056.hp2 HG02135.hp2 HG02155.hp2 HG02717.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0001 a0002c0001t0010 a0004c0007t0001 a0002c0001t0001 a0002c0001t0010 a0004c0007t0001	a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0015 others(58): Show a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0015 a0002c0001t0001g0053 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0096 a0002c0001t0001g0287 a0002c0001t0001g0288 a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0296 a0002c0001t0001g0298 a0002c0001t0001g0299 a0002c0001t0001g0300 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0304 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0307 a0002c0001t0001g0308 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0320 a0002c0001t0001g0321 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0010g0319 a0004c0007t0001g0382	64	408	0.1569	1	c.274 others(7): Show c.2749-3dupT		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	18/23				INFO_REALIGN_3_PRIME	chr7	TogoVar
APOL4_chr22_36184128_36206809	36191797	ACT ACT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show HG00140.hp1 HG00323.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA20805.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0005 others(2): Show a0002c0002 a0002c0003 a0002c0005 a0002c0009 a0002c0010	a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 others(13): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0003t0003 a0002c0003t0011 a0002c0003t0019 a0002c0003t0020 a0002c0003t0021 a0002c0003t0022 a0002c0005t0005 a0002c0005t0016 a0002c0005t0030 a0002c0009t0003 a0002c0010t0003	a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 others(74): Show a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0048 a0002c0002t0002g0061 a0002c0002t0002g0069 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0097 a0002c0002t0002g0109 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0002g0164 a0002c0002t0002g0179 a0002c0002t0023g0078 a0002c0002t0029g0094 a0002c0002t0031g0087 a0002c0002t0032g0158 a0002c0003t0003g0005 a0002c0003t0003g0008 a0002c0003t0003g0037 a0002c0003t0003g0050 a0002c0003t0003g0096 a0002c0003t0003g0101 a0002c0003t0003g0102 a0002c0003t0003g0103 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0110 a0002c0003t0003g0111 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0154 a0002c0003t0003g0165 a0002c0003t0003g0185 a0002c0003t0011g0135 a0002c0003t0011g0136 a0002c0003t0011g0194 a0002c0003t0019g0067 a0002c0003t0020g0104 a0002c0003t0021g0121 a0002c0003t0022g0091 a0002c0005t0005g0006 a0002c0005t0005g0032 a0002c0005t0005g0049 a0002c0005t0005g0065 a0002c0005t0005g0066 a0002c0005t0005g0153 a0002c0005t0005g0180 a0002c0005t0005g0183 a0002c0005t0005g0206 a0002c0005t0005g0207 a0002c0005t0016g0055 a0002c0005t0030g0118 a0002c0009t0003g0017 a0002c0009t0003g0201 a0002c0010t0003g0027 a0002c0010t0003g0186	129	434	0.2972	-2	c.323 others(9): Show c.323_324delAG	p.Glu others(5): Show p.Glu108fs	APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	4/4	399/3069	323/1047	108/348		chr22	TogoVar
ARL9_chr4_56500791_56529453	56505976	TAAAC TAAAC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01261.hp2 HG02015.hp2 HG02080.hp2 HG02109.hp2 HG02523.hp2 HG02559.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0001 a0003c0003t0004 a0003c0007t0001 a0003c0003t0001 a0003c0003t0004 a0003c0007t0001	a0003c0003t0001g0008 a0003c0003t0001g0010 a0003c0003t0001g0015 others(41): Show a0003c0003t0001g0008 a0003c0003t0001g0010 a0003c0003t0001g0015 a0003c0003t0001g0022 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0004g0257 a0003c0003t0004g0258 a0003c0007t0001g0022 a0003c0007t0001g0160 a0003c0007t0001g0192 a0003c0007t0001g0198 a0003c0007t0001g0225 a0003c0007t0001g0262	61	416	0.1466	-4	c.118 others(11): Show c.118_121delCAAA	p.Gln others(4): Show p.Gln40fs	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding	1/4	190/1447	118/798	40/265	INFO_REALIGN_3_PRIME	chr4	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(163): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0060 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0177 a0001c0001t0004g0027 a0001c0001t0006g0015 a0001c0001t0006g0102 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0010g0070 a0001c0001t0010g0121 a0001c0001t0010g0146 a0001c0001t0010g0256 a0001c0001t0010g0261 a0001c0001t0010g0267 a0001c0001t0010g0269 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0008 a0001c0001t0012g0123 a0001c0001t0012g0134 a0001c0001t0012g0151 a0001c0001t0014g0001 a0001c0001t0014g0061 a0001c0001t0014g0079 a0001c0001t0015g0059 a0001c0001t0015g0142 a0001c0001t0015g0152 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0020g0168 a0001c0001t0021g0171 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0001t0030g0005 a0001c0001t0031g0268 a0001c0001t0032g0131 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0004t0007g0162 a0001c0006t0006g0176 a0001c0007t0004g0020 a0001c0008t0003g0073 a0001c0011t0002g0132 a0002c0012t0006g0167	173	362	0.4779	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0003t0002 a0001c0004t0081	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0005g0003 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0024 a0001c0001t0007g0085 a0001c0001t0007g0098 a0001c0001t0008g0002 a0001c0001t0008g0116 a0001c0001t0008g0126 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0004 a0001c0001t0012g0016 a0001c0001t0013g0002 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0018g0025 a0001c0001t0019g0002 a0001c0001t0019g0011 a0001c0001t0019g0117 a0001c0001t0020g0010 a0001c0001t0021g0007 a0001c0001t0022g0004 a0001c0001t0023g0001 a0001c0001t0025g0004 a0001c0001t0025g0014 a0001c0001t0026g0029 a0001c0001t0027g0059 a0001c0001t0027g0060 a0001c0001t0029g0078 a0001c0001t0029g0080 a0001c0001t0034g0007 a0001c0001t0035g0114 a0001c0001t0037g0106 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0079 a0001c0001t0041g0001 a0001c0001t0042g0044 a0001c0001t0043g0001 a0001c0001t0044g0036 a0001c0001t0045g0001 a0001c0001t0046g0012 a0001c0001t0047g0081 a0001c0001t0048g0111 a0001c0001t0049g0001 a0001c0001t0050g0122 a0001c0001t0051g0002 a0001c0001t0052g0015 a0001c0001t0053g0002 a0001c0001t0054g0062 a0001c0001t0055g0053 a0001c0001t0056g0003 a0001c0001t0057g0047 a0001c0001t0058g0077 a0001c0001t0059g0003 a0001c0001t0060g0058 a0001c0001t0061g0003 a0001c0001t0068g0061 a0001c0001t0072g0019 a0001c0001t0073g0001 a0001c0001t0074g0057 a0001c0001t0075g0033 a0001c0001t0076g0072 a0001c0001t0077g0007 a0001c0001t0078g0007 a0001c0001t0079g0007 a0001c0001t0080g0033 a0001c0003t0002g0002 a0001c0004t0081g0054	347	414	0.8382	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160		chr10	TogoVar
ATM_chr11_108218067_108374102	108250683	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0009 a0010 a0013 a0015 a0021 a0023	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0020 a0001c0024 a0001c0025 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0009c0013 a0010c0014 a0013c0018 a0015c0019 a0021c0026 a0023c0033	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(31): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0008t0016 a0001c0010t0031 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0003c0003t0001 a0004c0004t0004 a0004c0004t0005 a0005c0006t0005 a0005c0006t0030 a0006c0007t0001 a0006c0007t0009 a0009c0013t0012 a0010c0014t0001 a0013c0018t0001 a0015c0019t0001 a0021c0026t0001 a0023c0033t0012	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(157): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0009g0238 a0001c0001t0009g0257 a0001c0001t0009g0263 a0001c0001t0010g0205 a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0011g0196 a0001c0001t0013g0237 a0001c0001t0013g0276 a0001c0001t0014g0151 a0001c0001t0014g0275 a0001c0001t0014g0279 a0001c0001t0016g0009 a0001c0001t0017g0175 a0001c0001t0018g0001 a0001c0001t0018g0294 a0001c0001t0019g0246 a0001c0001t0019g0253 a0001c0001t0023g0002 a0001c0001t0025g0268 a0001c0001t0026g0190 a0001c0001t0027g0258 a0001c0001t0028g0290 a0001c0001t0034g0152 a0001c0008t0016g0115 a0001c0008t0016g0116 a0001c0010t0031g0031 a0001c0020t0001g0273 a0001c0024t0001g0240 a0001c0025t0001g0274 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0298 a0003c0003t0001g0299 a0004c0004t0004g0168 a0004c0004t0004g0169 a0004c0004t0004g0176 a0004c0004t0004g0177 a0004c0004t0004g0178 a0004c0004t0004g0179 a0004c0004t0004g0180 a0004c0004t0004g0182 a0004c0004t0004g0183 a0004c0004t0004g0184 a0004c0004t0005g0004 a0005c0006t0005g0165 a0005c0006t0005g0166 a0005c0006t0005g0170 a0005c0006t0005g0171 a0005c0006t0005g0172 a0005c0006t0005g0173 a0005c0006t0005g0174 a0005c0006t0005g0181 a0005c0006t0030g0167 a0006c0007t0001g0150 a0006c0007t0001g0156 a0006c0007t0001g0157 a0006c0007t0001g0160 a0006c0007t0001g0161 a0006c0007t0009g0162 a0009c0013t0012g0117 a0009c0013t0012g0119 a0009c0013t0012g0120 a0010c0014t0001g0215 a0010c0014t0001g0281 a0013c0018t0001g0231 a0015c0019t0001g0209 a0021c0026t0001g0230 a0023c0033t0012g0118	160	304	0.5263	1	c.123 others(7): Show c.1236-3dupT		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	9/62				INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP6V1B1_chr2_70930900_70970431	70935956	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0007 a0008 a0009 a0010	a0002c0003 a0002c0006 a0002c0008 others(18): Show a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0018 a0002c0019 a0002c0021 a0002c0024 a0002c0025 a0002c0027 a0002c0029 a0002c0031 a0004c0014 a0005c0020 a0007c0026 a0008c0032 a0009c0028 a0010c0030	a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 others(21): Show a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0011t0007 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0018t0002 a0002c0019t0008 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0027t0001 a0002c0029t0004 a0002c0031t0001 a0004c0014t0002 a0005c0020t0001 a0007c0026t0001 a0008c0032t0001 a0009c0028t0001 a0010c0030t0001	a0002c0003t0001g0021 a0002c0003t0001g0271 a0002c0003t0001g0280 others(144): Show a0002c0003t0001g0021 a0002c0003t0001g0271 a0002c0003t0001g0280 a0002c0003t0001g0282 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0294 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0312 a0002c0003t0001g0315 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0324 a0002c0003t0001g0325 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0331 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0001g0337 a0002c0003t0001g0338 a0002c0003t0001g0345 a0002c0003t0001g0410 a0002c0003t0001g0412 a0002c0003t0001g0413 a0002c0003t0001g0414 a0002c0006t0001g0017 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0270 a0002c0006t0001g0272 a0002c0006t0001g0279 a0002c0006t0001g0283 a0002c0006t0001g0288 a0002c0006t0001g0290 a0002c0006t0001g0295 a0002c0006t0001g0296 a0002c0006t0001g0302 a0002c0006t0001g0306 a0002c0006t0001g0310 a0002c0006t0001g0313 a0002c0006t0001g0316 a0002c0006t0001g0329 a0002c0006t0001g0332 a0002c0006t0001g0336 a0002c0006t0001g0343 a0002c0006t0001g0355 a0002c0006t0001g0398 a0002c0006t0001g0411 a0002c0006t0003g0019 a0002c0006t0003g0333 a0002c0006t0003g0339 a0002c0008t0002g0278 a0002c0008t0002g0344 a0002c0008t0002g0365 a0002c0008t0002g0367 a0002c0008t0002g0368 a0002c0008t0002g0369 a0002c0008t0002g0370 a0002c0008t0002g0371 a0002c0008t0002g0373 a0002c0008t0002g0377 a0002c0008t0002g0378 a0002c0008t0002g0379 a0002c0008t0002g0380 a0002c0008t0002g0381 a0002c0008t0002g0382 a0002c0008t0002g0383 a0002c0008t0002g0384 a0002c0008t0002g0385 a0002c0008t0002g0399 a0002c0008t0002g0400 a0002c0008t0002g0401 a0002c0008t0002g0403 a0002c0008t0002g0404 a0002c0008t0002g0405 a0002c0010t0002g0293 a0002c0010t0002g0307 a0002c0010t0002g0322 a0002c0010t0002g0340 a0002c0010t0002g0346 a0002c0010t0002g0347 a0002c0010t0002g0348 a0002c0010t0002g0356 a0002c0010t0002g0357 a0002c0010t0002g0358 a0002c0010t0002g0359 a0002c0010t0002g0360 a0002c0010t0002g0361 a0002c0010t0002g0362 a0002c0010t0002g0363 a0002c0010t0002g0366 a0002c0010t0002g0406 a0002c0011t0002g0284 a0002c0011t0002g0350 a0002c0011t0002g0353 a0002c0011t0002g0392 a0002c0011t0002g0397 a0002c0011t0007g0274 a0002c0011t0007g0275 a0002c0011t0007g0276 a0002c0011t0007g0277 a0002c0012t0005g0273 a0002c0012t0005g0349 a0002c0012t0005g0351 a0002c0012t0005g0352 a0002c0012t0005g0354 a0002c0012t0005g0364 a0002c0012t0012g0323 a0002c0013t0002g0386 a0002c0013t0002g0388 a0002c0013t0002g0389 a0002c0013t0002g0390 a0002c0013t0002g0391 a0002c0018t0002g0341 a0002c0018t0002g0402 a0002c0019t0008g0300 a0002c0019t0008g0311 a0002c0021t0001g0289 a0002c0021t0001g0407 a0002c0024t0002g0387 a0002c0025t0001g0330 a0002c0027t0001g0327 a0002c0029t0004g0281 a0002c0031t0001g0409 a0004c0014t0002g0020 a0004c0014t0002g0375 a0004c0014t0002g0376 a0005c0020t0001g0018 a0007c0026t0001g0314 a0008c0032t0001g0374 a0009c0028t0001g0342 a0010c0030t0001g0372	152	440	0.3455	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/14	57/1907	2/1542	1/513		chr2	TogoVar
BCOR_chrX_40046251_40102958	40057175	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0210 a0011c0010t0001g0210	1	257	0.0039	1	c.457 others(5): Show c.4574dupG	p.Cys others(6): Show p.Cys1525fs	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	11/15	5358/6910	4574/5268	1525/1755		chrX	TogoVar
BCOR_chrX_40046251_40102958	40057300	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0210 a0011c0010t0001g0210	1	257	0.0039	1	c.444 others(5): Show c.4449dupA	p.Glu others(6): Show p.Glu1484fs	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	11/15	5233/6910	4449/5268	1483/1755		chrX	TogoVar
BCOR_chrX_40046251_40102958	40062316	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0210 a0011c0010t0001g0210	1	257	0.0039	1	c.425 others(5): Show c.4250dupA	p.Pro others(6): Show p.Pro1418fs	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	10/15	5034/6910	4250/5268	1417/1755		chrX	TogoVar
BCOR_chrX_40046251_40102958	40062841	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0210 a0011c0010t0001g0210	1	257	0.0039	-1	c.407 others(5): Show c.4077delG	p.Lys others(6): Show p.Lys1360fs	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	9/15	4861/6910	4077/5268	1359/1755		chrX	TogoVar
BCOR_chrX_40046251_40102958	40062943	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0210 a0011c0010t0001g0210	1	257	0.0039	-1	c.397 others(5): Show c.3975delA	p.Glu others(6): Show p.Glu1326fs	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	9/15	4759/6910	3975/5268	1325/1755		chrX	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 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 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.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(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0008t0001 a0002c0002t0004 a0002c0002t0043 a0002c0002t0044 a0003c0003t0014 a0004c0004t0002 a0004c0004t0025 a0005c0005t0001 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(241): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0083 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0003g0003 a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0143 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0007g0023 a0001c0001t0007g0048 a0001c0001t0007g0138 a0001c0001t0007g0144 a0001c0001t0007g0164 a0001c0001t0008g0006 a0001c0001t0008g0036 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0216 a0001c0001t0009g0232 a0001c0001t0009g0243 a0001c0001t0010g0020 a0001c0001t0010g0045 a0001c0001t0010g0130 a0001c0001t0010g0177 a0001c0001t0011g0017 a0001c0001t0011g0147 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0012g0007 a0001c0001t0013g0031 a0001c0001t0013g0085 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0015g0022 a0001c0001t0015g0140 a0001c0001t0015g0142 a0001c0001t0015g0146 a0001c0001t0016g0016 a0001c0001t0016g0137 a0001c0001t0016g0245 a0001c0001t0017g0211 a0001c0001t0018g0011 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0019g0078 a0001c0001t0020g0015 a0001c0001t0021g0049 a0001c0001t0021g0134 a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182 a0001c0001t0023g0038 a0001c0001t0023g0115 a0001c0001t0024g0021 a0001c0001t0025g0046 a0001c0001t0026g0024 a0001c0001t0027g0190 a0001c0001t0027g0192 a0001c0001t0028g0059 a0001c0001t0029g0037 a0001c0001t0030g0097 a0001c0001t0030g0101 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0034g0055 a0001c0001t0035g0052 a0001c0001t0036g0145 a0001c0001t0036g0149 a0001c0001t0037g0127 a0001c0001t0037g0128 a0001c0001t0038g0133 a0001c0001t0038g0155 a0001c0001t0039g0051 a0001c0001t0040g0160 a0001c0001t0040g0176 a0001c0001t0041g0047 a0001c0001t0042g0065 a0001c0001t0045g0179 a0001c0001t0046g0238 a0001c0001t0047g0201 a0001c0001t0048g0220 a0001c0001t0049g0224 a0001c0001t0050g0193 a0001c0001t0051g0210 a0001c0001t0052g0214 a0001c0001t0053g0229 a0001c0001t0054g0237 a0001c0001t0055g0195 a0001c0001t0056g0231 a0001c0001t0057g0217 a0001c0001t0058g0228 a0001c0001t0059g0212 a0001c0001t0060g0204 a0001c0001t0061g0218 a0001c0001t0062g0187 a0001c0001t0063g0114 a0001c0001t0064g0113 a0001c0001t0065g0185 a0001c0001t0066g0109 a0001c0001t0067g0107 a0001c0001t0068g0108 a0001c0001t0069g0104 a0001c0001t0070g0105 a0001c0001t0071g0184 a0001c0001t0072g0106 a0001c0001t0073g0112 a0001c0001t0074g0111 a0001c0001t0075g0110 a0001c0001t0076g0096 a0001c0001t0077g0188 a0001c0001t0078g0186 a0001c0001t0079g0079 a0001c0001t0080g0081 a0001c0001t0081g0148 a0001c0001t0082g0129 a0001c0001t0083g0093 a0001c0001t0084g0092 a0001c0001t0085g0150 a0001c0001t0086g0151 a0001c0001t0087g0152 a0001c0001t0088g0246 a0001c0001t0089g0118 a0001c0001t0090g0153 a0001c0001t0091g0119 a0001c0001t0092g0120 a0001c0001t0093g0121 a0001c0001t0094g0165 a0001c0001t0095g0126 a0001c0001t0096g0154 a0001c0001t0097g0181 a0001c0001t0098g0124 a0001c0001t0099g0156 a0001c0001t0100g0157 a0001c0001t0101g0084 a0001c0001t0102g0158 a0001c0001t0103g0183 a0001c0001t0104g0122 a0001c0001t0105g0139 a0001c0001t0106g0167 a0001c0001t0107g0123 a0001c0001t0108g0175 a0001c0001t0109g0159 a0001c0001t0110g0103 a0001c0001t0111g0171 a0001c0001t0112g0161 a0001c0008t0001g0206 a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0067 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0071 a0002c0002t0043g0070 a0002c0002t0044g0066 a0003c0003t0014g0013 a0003c0003t0014g0072 a0003c0003t0014g0073 a0004c0004t0002g0247 a0004c0004t0025g0248 a0005c0005t0001g0074 a0006c0007t0001g0205 a0007c0006t0001g0199	406	414	0.9807	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6					chr13	TogoVar
C17orf107_chr17_4894536_4907934	4900416	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show HG00099.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0029 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0002t0007g0001 a0002c0002t0019g0001 a0002c0002t0029g0001 a0004c0004t0001g0001	94	442	0.2127	0	c.456 others(3): Show c.456G>A	p.Trp others(4): Show p.Trp152*	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	3/3	683/3201	456/573	152/190		chr17	TogoVar
C3orf52_chr3_112081389_112123210	112109537	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19081.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0011 a0001c0012 others(6): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0004c0005 a0005c0006 a0006c0007 a0008c0010 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0011t0002 a0001c0012t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0004c0005t0002 a0005c0006t0002 a0006c0007t0006 a0008c0010t0002 a0009c0008t0002	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0004g0029 a0001c0001t0004g0112 a0001c0001t0006g0061 a0001c0001t0007g0033 a0001c0001t0007g0132 a0001c0001t0007g0134 a0001c0001t0011g0135 a0001c0001t0012g0060 a0001c0011t0002g0140 a0001c0012t0002g0131 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0097 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0006g0045 a0002c0002t0006g0075 a0002c0002t0006g0076 a0004c0005t0002g0013 a0005c0006t0002g0095 a0005c0006t0002g0096 a0006c0007t0006g0057 a0008c0010t0002g0065 a0009c0008t0002g0059	157	372	0.4220	1	c.397 others(6): Show c.397-3dupT		C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr3	TogoVar
CAB39L_chr13_49303650_49449064	49331951	A A	AAAGACAT others(27): Show AAAGACATGGGGGGGGGGGGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0244 a0002c0003t0002g0244	1	324	0.0031	34	c.829 others(41): Show c.829_830insCCCCCCCCCCCCCCCCCCCCCCCCCCCATGTCTT	p.Phe others(5): Show p.Phe277fs	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/11	1153/3502	829/1014	277/337		chr13	TogoVar
CACNA1A_chr19_13201442_13511479	13207516	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01106.hp1 HG01109.hp1 HG01255.hp2 others(15): Show HG01106.hp1 HG01109.hp1 HG01255.hp2 HG01261.hp1 HG02056.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG03471.hp2 HG03669.hp1 HG03942.hp2 NA18946.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1	a0009 a0010 a0014 others(5): Show a0009 a0010 a0014 a0019 a0025 a0027 a0029 a0040	a0009c0014 a0009c0051 a0009c0076 others(13): Show a0009c0014 a0009c0051 a0009c0076 a0010c0053 a0010c0083 a0010c0107 a0010c0128 a0014c0048 a0014c0111 a0014c0115 a0019c0079 a0019c0109 a0025c0041 a0027c0064 a0029c0063 a0040c0069	a0009c0014t0002 a0009c0014t0046 a0009c0051t0002 others(14): Show a0009c0014t0002 a0009c0014t0046 a0009c0051t0002 a0009c0076t0002 a0010c0053t0003 a0010c0083t0014 a0010c0107t0021 a0010c0128t0010 a0014c0048t0001 a0014c0111t0004 a0014c0115t0004 a0019c0079t0007 a0019c0109t0005 a0025c0041t0004 a0027c0064t0004 a0029c0063t0002 a0040c0069t0014	a0009c0014t0002g0048 a0009c0014t0002g0195 a0009c0014t0046g0176 others(15): Show a0009c0014t0002g0048 a0009c0014t0002g0195 a0009c0014t0046g0176 a0009c0051t0002g0184 a0009c0076t0002g0108 a0010c0053t0003g0186 a0010c0083t0014g0159 a0010c0107t0021g0004 a0010c0128t0010g0139 a0014c0048t0001g0146 a0014c0111t0004g0210 a0014c0115t0004g0066 a0019c0079t0007g0067 a0019c0109t0005g0198 a0025c0041t0004g0107 a0027c0064t0004g0101 a0029c0063t0002g0196 a0040c0069t0014g0040	18	218	0.0826	1	c.731 others(5): Show c.7317dupC	p.Val others(6): Show p.Val2440fs	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7572/8647	7317/7521	2439/2506		chr19	TogoVar
CCDC22_chrX_49230470_49255520	49247550	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0069 a0006c0013t0001g0069	1	296	0.0034	1	c.964 others(8): Show c.964_965insT	p.Pro others(5): Show p.Pro322fs	CCDC22	ENSG00000101997.13	transcript	ENST00000376227.4	protein_coding	8/17	1132/2310	965/1884	322/627		chrX	TogoVar
CD33_chr19_51220080_51245016	51226321	ACCCAACA others(12): Show ACCCAACAACTGGTATCTTT	A A	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG02132.hp2 NA18946.hp1 others(3): Show HG00609.hp2 HG02132.hp2 NA18946.hp1 NA18970.hp1 NA18990.hp1 NA18991.hp2	a0009 a0014 a0009 a0014	a0009c0007 a0014c0016 a0009c0007 a0014c0016	a0009c0007t0002 a0014c0016t0001 a0014c0016t0002 a0009c0007t0002 a0014c0016t0001 a0014c0016t0002	a0009c0007t0002g0015 a0009c0007t0002g0059 a0014c0016t0001g0062 others(1): Show a0009c0007t0002g0015 a0009c0007t0002g0059 a0014c0016t0001g0062 a0014c0016t0002g0015	6	366	0.0164	-19	c.713 others(26): Show c.713_731delCAACAACTGGTATCTTTCC	p.Pro others(5): Show p.Pro238fs	CD33	ENSG00000105383.15	transcript	ENST00000262262.5	protein_coding	4/7	752/1462	713/1095	238/364	INFO_REALIGN_3_PRIME	chr19	TogoVar
CD40_chr20_46113314_46134858	46128304	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0004 a0001c0001 a0003c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0003c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0001 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(44): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0137 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0002g0206 a0003c0002t0001g0025 a0003c0002t0001g0041 a0003c0002t0001g0042 a0003c0002t0001g0122 a0003c0002t0001g0140 a0003c0002t0001g0141 a0004c0004t0001g0031 a0004c0004t0001g0168	118	416	0.2837	2	c.647 others(13): Show c.647-4_647-3dupTT		CD40	ENSG00000101017.15	transcript	ENST00000372285.8	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr20	TogoVar
CEACAM20_chr19_44501159_44534675	44511144	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG02040.hp2 NA18945.hp2 NA18946.hp1 others(5): Show HG02040.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp2 NA18960.hp2 NA19010.hp1 NA19078.hp2 NA19079.hp2	a0012 a0019 a0012 a0019	a0012c0016 a0019c0026 a0012c0016 a0019c0026	a0012c0016t0001 a0012c0016t0002 a0019c0026t0001 a0012c0016t0001 a0012c0016t0002 a0019c0026t0001	a0012c0016t0001g0289 a0012c0016t0001g0295 a0012c0016t0001g0309 others(5): Show a0012c0016t0001g0289 a0012c0016t0001g0295 a0012c0016t0001g0309 a0012c0016t0001g0314 a0012c0016t0002g0029 a0019c0026t0001g0145 a0019c0026t0001g0152 a0019c0026t0001g0185	8	438	0.0183	-1	c.162 others(5): Show c.1622delC	p.Pro others(5): Show p.Pro541fs	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/12	1788/1959	1622/1791	541/596		chr19	TogoVar
CELA1_chr12_51323442_51351679	51346628	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0002c0004 others(5): Show a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0003c0005	a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 others(6): Show a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0006t0001 a0002c0007t0002 a0002c0009t0002 a0002c0010t0002 a0003c0005t0001	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 others(115): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0073 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0003t0001g0002 a0002c0003t0001g0044 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0002g0011 a0002c0003t0002g0036 a0002c0003t0002g0074 a0002c0003t0002g0088 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0094 a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0035 a0002c0004t0002g0054 a0002c0004t0002g0079 a0002c0004t0002g0080 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0006t0001g0016 a0002c0006t0001g0071 a0002c0006t0001g0072 a0002c0007t0002g0032 a0002c0007t0002g0078 a0002c0009t0002g0081 a0002c0010t0002g0083 a0003c0005t0001g0010 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0057 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0064 a0003c0005t0001g0065 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 a0003c0005t0001g0070	211	406	0.5197	-1	c.10d others(3): Show c.10delC	p.Leu others(3): Show p.Leu4fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	51/953	10/777	4/258		chr12	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(26): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0018 a0021 a0023 a0025 a0030 a0031 a0032 a0035 a0039 a0046 a0047 a0051 a0054 a0055 a0056 a0060 a0061 a0065 a0067	a0001c0019 a0001c0020 a0001c0054 others(112): Show a0001c0019 a0001c0020 a0001c0054 a0001c0055 a0001c0056 a0001c0058 a0001c0059 a0001c0060 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0074 a0001c0075 a0001c0076 a0001c0190 a0001c0197 a0001c0204 a0002c0002 a0002c0007 a0002c0034 a0002c0161 a0004c0006 a0004c0030 a0004c0036 a0004c0148 a0004c0232 a0005c0015 a0005c0021 a0005c0022 a0005c0081 a0005c0082 a0005c0086 a0005c0087 a0005c0088 a0005c0089 a0005c0090 a0005c0091 a0005c0093 a0005c0094 a0005c0096 a0005c0097 a0006c0028 a0006c0126 a0006c0128 a0006c0138 a0006c0139 a0006c0140 a0006c0143 a0006c0144 a0006c0217 a0006c0218 a0007c0112 a0007c0113 a0007c0115 a0007c0116 a0007c0120 a0007c0121 a0007c0122 a0007c0124 a0007c0209 a0007c0210 a0008c0011 a0008c0024 a0008c0098 a0008c0099 a0008c0100 a0008c0101 a0008c0102 a0008c0103 a0008c0104 a0008c0105 a0008c0107 a0008c0108 a0008c0109 a0008c0182 a0010c0031 a0010c0155 a0010c0156 a0010c0183 a0010c0236 a0013c0013 a0013c0158 a0013c0159 a0014c0012 a0014c0027 a0014c0129 a0014c0219 a0018c0169 a0021c0134 a0021c0135 a0023c0172 a0023c0173 a0025c0037 a0030c0043 a0031c0048 a0032c0237 a0035c0111 a0039c0176 a0046c0167 a0047c0168 a0051c0078 a0054c0179 a0055c0181 a0056c0180 a0060c0184 a0061c0185 a0065c0047 a0067c0042	a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 others(112): Show a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0003 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0002 a0001c0190t0001 a0001c0197t0001 a0001c0204t0001 a0002c0002t0001 a0002c0007t0001 a0002c0034t0001 a0002c0161t0001 a0004c0006t0001 a0004c0030t0001 a0004c0036t0001 a0004c0148t0001 a0004c0232t0001 a0005c0015t0001 a0005c0021t0001 a0005c0022t0001 a0005c0081t0001 a0005c0082t0001 a0005c0086t0001 a0005c0087t0001 a0005c0088t0001 a0005c0089t0001 a0005c0090t0001 a0005c0091t0001 a0005c0093t0001 a0005c0094t0001 a0005c0096t0001 a0005c0097t0001 a0006c0028t0001 a0006c0126t0001 a0006c0128t0001 a0006c0138t0001 a0006c0139t0002 a0006c0140t0001 a0006c0143t0001 a0006c0144t0001 a0006c0217t0001 a0006c0218t0001 a0007c0112t0001 a0007c0113t0001 a0007c0115t0002 a0007c0116t0001 a0007c0120t0001 a0007c0121t0001 a0007c0122t0001 a0007c0124t0001 a0007c0209t0001 a0007c0210t0001 a0008c0011t0001 a0008c0024t0001 a0008c0098t0001 a0008c0099t0001 a0008c0100t0001 a0008c0101t0001 a0008c0102t0001 a0008c0103t0001 a0008c0104t0001 a0008c0105t0001 a0008c0107t0001 a0008c0108t0001 a0008c0109t0001 a0008c0182t0001 a0010c0031t0001 a0010c0155t0001 a0010c0156t0001 a0010c0183t0001 a0010c0236t0001 a0013c0013t0001 a0013c0158t0001 a0013c0159t0001 a0014c0012t0001 a0014c0027t0001 a0014c0129t0001 a0014c0219t0001 a0018c0169t0001 a0021c0134t0001 a0021c0135t0001 a0023c0172t0001 a0023c0173t0001 a0025c0037t0001 a0030c0043t0001 a0031c0048t0001 a0032c0237t0001 a0035c0111t0001 a0039c0176t0001 a0046c0167t0001 a0047c0168t0001 a0051c0078t0001 a0054c0179t0001 a0055c0181t0001 a0056c0180t0001 a0060c0184t0001 a0061c0185t0001 a0065c0047t0001 a0067c0042t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 others(140): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 a0001c0020t0001g0043 a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0056t0001g0008 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0060t0001g0001 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0065t0001g0001 a0001c0066t0003g0001 a0001c0067t0001g0003 a0001c0068t0001g0008 a0001c0069t0001g0001 a0001c0070t0001g0001 a0001c0071t0001g0003 a0001c0074t0001g0001 a0001c0075t0001g0009 a0001c0076t0002g0071 a0001c0190t0001g0005 a0001c0197t0001g0002 a0001c0204t0001g0015 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0007t0001g0001 a0002c0007t0001g0003 a0002c0007t0001g0019 a0002c0007t0001g0029 a0002c0007t0001g0047 a0002c0034t0001g0001 a0002c0034t0001g0003 a0002c0161t0001g0007 a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0006 a0004c0006t0001g0009 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0036t0001g0013 a0004c0148t0001g0060 a0004c0232t0001g0033 a0005c0015t0001g0001 a0005c0021t0001g0001 a0005c0021t0001g0009 a0005c0022t0001g0001 a0005c0022t0001g0003 a0005c0081t0001g0010 a0005c0082t0001g0001 a0005c0086t0001g0007 a0005c0087t0001g0004 a0005c0088t0001g0078 a0005c0089t0001g0009 a0005c0090t0001g0059 a0005c0091t0001g0001 a0005c0093t0001g0003 a0005c0094t0001g0001 a0005c0096t0001g0001 a0005c0097t0001g0001 a0006c0028t0001g0001 a0006c0126t0001g0003 a0006c0128t0001g0004 a0006c0138t0001g0003 a0006c0139t0002g0067 a0006c0140t0001g0003 a0006c0143t0001g0014 a0006c0144t0001g0072 a0006c0217t0001g0002 a0006c0218t0001g0015 a0007c0112t0001g0003 a0007c0113t0001g0003 a0007c0115t0002g0001 a0007c0116t0001g0006 a0007c0120t0001g0001 a0007c0121t0001g0093 a0007c0122t0001g0012 a0007c0124t0001g0050 a0007c0209t0001g0026 a0007c0210t0001g0002 a0008c0011t0001g0001 a0008c0011t0001g0003 a0008c0011t0001g0009 a0008c0024t0001g0001 a0008c0098t0001g0004 a0008c0099t0001g0001 a0008c0100t0001g0023 a0008c0101t0001g0001 a0008c0102t0001g0066 a0008c0103t0001g0006 a0008c0104t0001g0039 a0008c0105t0001g0001 a0008c0107t0001g0003 a0008c0108t0001g0001 a0008c0109t0001g0008 a0008c0182t0001g0030 a0010c0031t0001g0001 a0010c0155t0001g0001 a0010c0156t0001g0001 a0010c0183t0001g0030 a0010c0236t0001g0001 a0013c0013t0001g0001 a0013c0013t0001g0055 a0013c0013t0001g0068 a0013c0013t0001g0074 a0013c0158t0001g0003 a0013c0159t0001g0008 a0014c0012t0001g0004 a0014c0012t0001g0016 a0014c0027t0001g0004 a0014c0027t0001g0073 a0014c0129t0001g0004 a0014c0219t0001g0002 a0018c0169t0001g0001 a0021c0134t0001g0004 a0021c0135t0001g0004 a0023c0172t0001g0001 a0023c0173t0001g0009 a0025c0037t0001g0002 a0025c0037t0001g0011 a0030c0043t0001g0037 a0031c0048t0001g0064 a0032c0237t0001g0040 a0035c0111t0001g0042 a0039c0176t0001g0001 a0046c0167t0001g0020 a0047c0168t0001g0092 a0051c0078t0001g0041 a0054c0179t0001g0086 a0055c0181t0001g0001 a0056c0180t0001g0087 a0060c0184t0001g0003 a0061c0185t0001g0003 a0065c0047t0001g0036 a0067c0042t0001g0080	182	416	0.4375	1	c.204 others(5): Show c.2040dupC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071535	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show HG00408.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02293.hp2 HG02630.hp1 HG03130.hp2 HG03654.hp2 HG03688.hp2 NA18941.hp2 NA18946.hp2 NA18954.hp2 NA18969.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18998.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19066.hp2 NA19090.hp1 NA20805.hp1	a0001 a0004 a0006 others(4): Show a0001 a0004 a0006 a0007 a0010 a0012 a0023	a0001c0192 a0001c0194 a0001c0195 others(22): Show a0001c0192 a0001c0194 a0001c0195 a0001c0196 a0001c0198 a0001c0201 a0001c0202 a0001c0203 a0004c0008 a0004c0229 a0004c0230 a0004c0231 a0006c0220 a0006c0221 a0006c0222 a0007c0211 a0007c0212 a0007c0213 a0007c0214 a0010c0224 a0010c0225 a0010c0226 a0012c0005 a0012c0234 a0023c0174	a0001c0192t0001 a0001c0194t0001 a0001c0195t0001 others(22): Show a0001c0192t0001 a0001c0194t0001 a0001c0195t0001 a0001c0196t0001 a0001c0198t0001 a0001c0201t0001 a0001c0202t0001 a0001c0203t0001 a0004c0008t0001 a0004c0229t0001 a0004c0230t0001 a0004c0231t0001 a0006c0220t0001 a0006c0221t0001 a0006c0222t0001 a0007c0211t0001 a0007c0212t0001 a0007c0213t0001 a0007c0214t0001 a0010c0224t0001 a0010c0225t0001 a0010c0226t0001 a0012c0005t0001 a0012c0234t0001 a0023c0174t0001	a0001c0192t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 others(28): Show a0001c0192t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0196t0001g0002 a0001c0198t0001g0083 a0001c0201t0001g0002 a0001c0202t0001g0005 a0001c0203t0001g0011 a0004c0008t0001g0002 a0004c0008t0001g0005 a0004c0008t0001g0018 a0004c0008t0001g0079 a0004c0229t0001g0011 a0004c0230t0001g0021 a0004c0231t0001g0002 a0006c0220t0001g0089 a0006c0221t0001g0002 a0006c0222t0001g0002 a0007c0211t0001g0076 a0007c0212t0001g0002 a0007c0213t0001g0005 a0007c0214t0001g0002 a0010c0224t0001g0085 a0010c0225t0001g0002 a0010c0226t0001g0053 a0012c0005t0001g0002 a0012c0005t0001g0005 a0012c0005t0001g0011 a0012c0005t0001g0018 a0012c0234t0001g0002 a0023c0174t0001g0001	42	416	0.1010	-32	c.204 others(41): Show c.2041_2072delGTGCCGCCCACGGGTGACTCCGGCGCCCCCCC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP90_chr5_7825378_7856133	7835432	G G	A A	stop_gained stop_gained	HIGH	HG02132.hp2 NA18939.hp2 NA18946.hp1 others(13): Show HG02132.hp2 NA18939.hp2 NA18946.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp1 NA18968.hp2 NA18999.hp1 NA19004.hp1 NA19070.hp1 NA19074.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0083 a0003c0003t0001g0091 a0003c0003t0001g0003 a0003c0003t0001g0083 a0003c0003t0001g0091	16	420	0.0381	0	c.214 others(3): Show c.214C>T	p.Arg others(3): Show p.Arg72*	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	2/3	326/2028	214/444	72/147		chr5	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0013 others(5): Show a0001 a0009 a0013 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0013c0015 a0016c0017 a0017c0028 a0018c0027 a0020c0024 a0023c0018	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0013c0015t0001 a0016c0017t0001 a0017c0028t0001 a0018c0027t0001 a0020c0024t0001 a0023c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0013c0015t0001g0046 a0016c0017t0001g0136 a0017c0028t0001g0102 a0018c0027t0001g0153 a0020c0024t0001g0107 a0023c0018t0001g0096	175	484	0.3616	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466		chr1	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0010 a0005c0019 a0006c0013 a0007c0011 a0008c0012 a0010c0014 a0011c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0010t0001 a0005c0019t0001 a0006c0013t0002 a0007c0011t0002 a0008c0012t0007 a0010c0014t0001 a0011c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(255): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0239 a0001c0001t0008g0243 a0001c0001t0008g0250 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0263 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0226 a0001c0001t0013g0001 a0001c0001t0013g0048 a0001c0001t0013g0206 a0001c0001t0013g0210 a0001c0001t0014g0003 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0292 a0001c0001t0015g0248 a0001c0001t0015g0249 a0001c0001t0017g0186 a0001c0001t0017g0279 a0001c0001t0018g0255 a0001c0001t0019g0050 a0001c0001t0019g0201 a0001c0001t0020g0049 a0001c0001t0025g0007 a0001c0001t0026g0001 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0291 a0001c0001t0036g0003 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0036 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0044 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0035 a0001c0003t0023g0036 a0001c0003t0048g0152 a0001c0005t0002g0046 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0007g0120 a0002c0002t0007g0121 a0002c0002t0010g0002 a0002c0002t0022g0006 a0002c0002t0022g0128 a0002c0002t0041g0031 a0002c0002t0043g0032 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0102 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0087 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0010t0001g0228 a0005c0019t0001g0005 a0006c0013t0002g0124 a0007c0011t0002g0002 a0008c0012t0007g0044 a0010c0014t0001g0184 a0011c0018t0001g0004	355	424	0.8373	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
COQ10A_chr12_56261942_56275966	56267121	G G	T T	start_lost start_lost	HIGH	HG00642.hp1 HG01106.hp1 HG01516.hp1 others(14): Show HG00642.hp1 HG01106.hp1 HG01516.hp1 HG01517.hp1 HG02040.hp2 HG02083.hp1 HG02148.hp1 HG02273.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18953.hp1 NA18966.hp1 NA18981.hp2 NA18989.hp1 NA18994.hp1 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	17	332	0.0512	0	c.3G> others(1): Show c.3G>T	p.Met others(2): Show p.Met1?	COQ10A	ENSG00000135469.14	transcript	ENST00000308197.10	protein_coding	1/5	180/1570	3/744	1/247		chr12	TogoVar
CXorf49B_chrX_71758349_71772204	71765946	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18946.hp1 NA18946.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0003 a0005c0009t0001g0003	1	95	0.0105	-1	c.140 others(5): Show c.1409delC	p.Pro others(5): Show p.Pro470fs	CXorf49B	ENSG00000215113.7	transcript	ENST00000542739.3	protein_coding	3/6	1484/1795	1409/1545	470/514	INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0008 a0008c0010 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0013c0015 a0014c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0005t0042 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0022 a0002c0002t0031 a0003c0003t0034 a0003c0003t0045 a0003c0003t0046 a0004c0004t0009 a0005c0006t0041 a0006c0007t0061 a0006c0007t0062 a0007c0008t0012 a0007c0008t0023 a0008c0010t0012 a0009c0011t0023 a0010c0012t0060 a0011c0013t0001 a0012c0014t0033 a0013c0015t0001 a0014c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(317): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0213 a0001c0001t0003g0219 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0059 a0001c0001t0004g0116 a0001c0001t0004g0167 a0001c0001t0004g0206 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0236 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0037 a0001c0001t0005g0054 a0001c0001t0005g0171 a0001c0001t0005g0210 a0001c0001t0005g0215 a0001c0001t0005g0229 a0001c0001t0005g0238 a0001c0001t0006g0002 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0139 a0001c0001t0006g0148 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0192 a0001c0001t0007g0002 a0001c0001t0007g0008 a0001c0001t0007g0015 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0007g0071 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0103 a0001c0001t0007g0120 a0001c0001t0007g0158 a0001c0001t0007g0204 a0001c0001t0007g0209 a0001c0001t0008g0001 a0001c0001t0008g0023 a0001c0001t0008g0038 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0214 a0001c0001t0008g0223 a0001c0001t0008g0228 a0001c0001t0008g0232 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0009g0001 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0207 a0001c0001t0009g0216 a0001c0001t0009g0222 a0001c0001t0011g0007 a0001c0001t0011g0075 a0001c0001t0011g0180 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0012g0001 a0001c0001t0012g0019 a0001c0001t0012g0023 a0001c0001t0012g0036 a0001c0001t0012g0051 a0001c0001t0012g0053 a0001c0001t0013g0009 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0090 a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0013g0095 a0001c0001t0014g0046 a0001c0001t0014g0074 a0001c0001t0014g0080 a0001c0001t0014g0176 a0001c0001t0014g0179 a0001c0001t0014g0185 a0001c0001t0014g0189 a0001c0001t0014g0237 a0001c0001t0016g0002 a0001c0001t0016g0004 a0001c0001t0016g0008 a0001c0001t0016g0030 a0001c0001t0016g0172 a0001c0001t0016g0184 a0001c0001t0016g0191 a0001c0001t0019g0081 a0001c0001t0020g0004 a0001c0001t0020g0045 a0001c0001t0020g0047 a0001c0001t0020g0048 a0001c0001t0020g0174 a0001c0001t0020g0182 a0001c0001t0023g0220 a0001c0001t0023g0221 a0001c0001t0023g0230 a0001c0001t0024g0023 a0001c0001t0024g0054 a0001c0001t0024g0076 a0001c0001t0024g0208 a0001c0001t0024g0211 a0001c0001t0025g0006 a0001c0001t0025g0135 a0001c0001t0025g0137 a0001c0001t0025g0145 a0001c0001t0025g0151 a0001c0001t0026g0193 a0001c0001t0028g0005 a0001c0001t0028g0084 a0001c0001t0028g0089 a0001c0001t0028g0094 a0001c0001t0029g0005 a0001c0001t0029g0091 a0001c0001t0030g0006 a0001c0001t0030g0013 a0001c0001t0030g0150 a0001c0001t0030g0169 a0001c0001t0033g0060 a0001c0001t0035g0098 a0001c0001t0035g0099 a0001c0001t0037g0085 a0001c0001t0037g0096 a0001c0001t0038g0005 a0001c0001t0038g0009 a0001c0001t0043g0248 a0001c0001t0043g0250 a0001c0001t0044g0003 a0001c0001t0047g0241 a0001c0001t0048g0056 a0001c0001t0049g0056 a0001c0001t0050g0001 a0001c0001t0051g0212 a0001c0001t0052g0097 a0001c0001t0053g0086 a0001c0001t0054g0072 a0001c0001t0056g0049 a0001c0001t0057g0166 a0001c0001t0058g0058 a0001c0001t0059g0058 a0001c0001t0063g0246 a0001c0001t0064g0083 a0001c0001t0065g0251 a0001c0001t0066g0249 a0001c0001t0067g0247 a0001c0005t0042g0194 a0001c0005t0042g0195 a0002c0002t0010g0064 a0002c0002t0010g0065 a0002c0002t0010g0066 a0002c0002t0010g0276 a0002c0002t0010g0278 a0002c0002t0010g0280 a0002c0002t0010g0281 a0002c0002t0010g0290 a0002c0002t0010g0292 a0002c0002t0010g0293 a0002c0002t0010g0294 a0002c0002t0015g0027 a0002c0002t0015g0277 a0002c0002t0015g0285 a0002c0002t0015g0286 a0002c0002t0015g0287 a0002c0002t0015g0289 a0002c0002t0015g0296 a0002c0002t0017g0033 a0002c0002t0017g0034 a0002c0002t0017g0035 a0002c0002t0017g0114 a0002c0002t0022g0065 a0002c0002t0022g0282 a0002c0002t0022g0283 a0002c0002t0022g0284 a0002c0002t0022g0295 a0002c0002t0031g0027 a0002c0002t0031g0288 a0002c0002t0031g0291 a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0045g0200 a0003c0003t0046g0201 a0004c0004t0009g0063 a0004c0004t0009g0279 a0005c0006t0041g0031 a0006c0007t0061g0197 a0006c0007t0062g0196 a0007c0008t0012g0001 a0007c0008t0023g0224 a0008c0010t0012g0001 a0009c0011t0023g0205 a0010c0012t0060g0243 a0011c0013t0001g0002 a0012c0014t0033g0245 a0013c0015t0001g0102 a0014c0009t0001g0124	412	448	0.9196	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP4B1_chr1_46794046_46824413	46815074	GAT GAT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02735.hp2 HG02970.hp1 HG03195.hp2 HG03704.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0018 a0003c0019 a0003c0003 a0003c0018 a0003c0019	a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 a0003c0019t0003	a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0103 others(37): Show a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0103 a0003c0003t0001g0113 a0003c0003t0001g0123 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0138 a0003c0003t0001g0169 a0003c0003t0001g0175 a0003c0003t0003g0007 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0121 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0203 a0003c0003t0003g0204 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0210 a0003c0003t0003g0211 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0003t0003g0215 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0018t0003g0007 a0003c0019t0003g0214	69	400	0.1725	-2	c.884 others(9): Show c.884_885delAT	p.Asp others(5): Show p.Asp295fs	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/12	920/2174	884/1539	295/512		chr1	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0005c0006 a0006c0013 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0003t0001 a0001c0003t0011 a0001c0003t0023 a0001c0003t0034 a0001c0012t0007 a0005c0006t0001 a0006c0013t0003 a0007c0011t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(28): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0017g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0026g0000 a0001c0001t0028g0000 a0001c0001t0029g0000 a0001c0001t0030g0000 a0001c0001t0031g0000 a0001c0001t0032g0000 a0001c0001t0033g0000 a0001c0003t0001g0000 a0001c0003t0011g0000 a0001c0003t0023g0000 a0001c0003t0034g0000 a0001c0012t0007g0000 a0005c0006t0001g0000 a0006c0013t0003g0000 a0007c0011t0001g0000	268	456	0.5877	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244		chr5	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0002 a0000c0004 a0002c0003 others(2): Show a0000c0002 a0000c0004 a0002c0003 a0002c0006 a0002c0009	a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 others(2): Show a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 others(16): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 a0000c0002t0001g0004 a0000c0002t0001g0006 a0000c0002t0001g0008 a0000c0002t0001g0010 a0000c0002t0001g0013 a0000c0002t0001g0014 a0000c0004t0001g0005 a0000c0004t0001g0019 a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	233	460	0.5065	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(77): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02976.hp1 HG03486.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0002c0005 a0006c0017 a0007c0019 a0011c0028 a0012c0030	a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 others(31): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0023 a0001c0002t0075 a0001c0002t0095 a0001c0002t0096 a0001c0002t0101 a0001c0003t0006 a0001c0003t0013 a0001c0003t0059 a0001c0003t0105 a0001c0003t0123 a0001c0004t0047 a0001c0004t0055 a0001c0006t0001 a0001c0006t0004 a0001c0006t0017 a0001c0006t0036 a0001c0013t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0002c0005t0104 a0006c0017t0041 a0007c0019t0047 a0011c0028t0001 a0012c0030t0019	a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 others(77): Show a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0184 a0001c0002t0001g0191 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0004g0169 a0001c0002t0005g0228 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0019g0126 a0001c0002t0019g0171 a0001c0002t0021g0098 a0001c0002t0021g0125 a0001c0002t0023g0120 a0001c0002t0075g0176 a0001c0002t0095g0060 a0001c0002t0096g0306 a0001c0002t0101g0183 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0013g0015 a0001c0003t0059g0311 a0001c0003t0105g0132 a0001c0003t0123g0238 a0001c0004t0047g0097 a0001c0004t0055g0185 a0001c0006t0001g0109 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0110 a0001c0006t0017g0111 a0001c0006t0017g0112 a0001c0006t0017g0285 a0001c0006t0017g0309 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0013t0001g0231 a0002c0005t0001g0053 a0002c0005t0001g0104 a0002c0005t0001g0105 a0002c0005t0001g0113 a0002c0005t0001g0114 a0002c0005t0001g0117 a0002c0005t0001g0137 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0118 a0002c0005t0007g0045 a0002c0005t0007g0123 a0002c0005t0007g0128 a0002c0005t0007g0134 a0002c0005t0007g0136 a0002c0005t0008g0290 a0002c0005t0037g0292 a0002c0005t0104g0237 a0006c0017t0041g0122 a0007c0019t0047g0100 a0011c0028t0001g0054 a0012c0030t0019g0088	80	316	0.2532	11	c.623 others(23): Show c.623-13_623-3dupTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp1 HG02155.hp1 HG02922.hp1 others(8): Show HG00621.hp1 HG02155.hp1 HG02922.hp1 HG03492.hp1 HG06807.hp1 NA18747.hp2 NA18946.hp2 NA18948.hp2 NA18979.hp2 NA18983.hp1 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0008 a0009c0021 a0001c0001 a0001c0008 a0009c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0061 a0001c0001t0088 a0001c0001t0099 a0001c0008t0026 a0009c0021t0032	a0001c0001t0001g0130 a0001c0001t0003g0065 a0001c0001t0003g0087 others(8): Show a0001c0001t0001g0130 a0001c0001t0003g0065 a0001c0001t0003g0087 a0001c0001t0004g0094 a0001c0001t0005g0224 a0001c0001t0018g0018 a0001c0001t0061g0078 a0001c0001t0088g0260 a0001c0001t0099g0315 a0001c0008t0026g0235 a0009c0021t0032g0265	11	316	0.0348	28	c.623 others(39): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DIDO1_chr20_62872743_62931505	62926430	ACCGCAGG ACCGCAGG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01952.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18946.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0024 a0025	a0001c0009 a0002c0002 a0003c0003 others(8): Show a0001c0009 a0002c0002 a0003c0003 a0003c0006 a0003c0019 a0003c0041 a0003c0042 a0003c0043 a0005c0005 a0024c0040 a0025c0039	a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 others(8): Show a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0019t0001 a0003c0041t0001 a0003c0042t0001 a0003c0043t0001 a0005c0005t0002 a0024c0040t0001 a0025c0039t0002	a0001c0009t0001g0024 a0002c0002t0001g0267 a0003c0003t0001g0021 others(55): Show a0001c0009t0001g0024 a0002c0002t0001g0267 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0235 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0243 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0268 a0003c0006t0001g0027 a0003c0006t0001g0028 a0003c0006t0001g0248 a0003c0006t0001g0249 a0003c0006t0001g0250 a0003c0006t0001g0252 a0003c0006t0001g0259 a0003c0019t0001g0236 a0003c0019t0001g0266 a0003c0041t0001g0242 a0003c0042t0001g0233 a0003c0043t0001g0234 a0005c0005t0002g0260 a0024c0040t0001g0244 a0025c0039t0002g0261	66	320	0.2063	-7	c.-20 others(20): Show c.-200+2_-200+8delCCTGCGG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15					chr20	TogoVar
DMBT1_chr10_122555754_122648736	122601633	CTTAACCT others(12170): Show CTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATGCCCTGGTGA CTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGCCCTGATTGT TGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGAAGCGTTCTT GTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATG GAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGG GGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAATGTGGTTTG CAGGCAGCTGGGCTGTGGCTGGGCCATGTCAGCCCCAGGAAATGCCCGGT TTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGA CATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAA CTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAA GACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCT AATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGT ATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCT ACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAA CAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAG AAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAG CAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGGCAGAGGAGG GATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTG GGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGG TTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAG GTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCT TGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCT TGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTT TGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACACTTAAGATGT GCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGCGCAGACACA ATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGCCTCAACCCC TTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCCCTCCCTGTG TGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATTTCTTTCCCT CCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGATCTGACCTTC TCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCAGCCCAGGTA AGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTGCCCAATCAC CCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGGATACTGTGG GGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACATGGGTCCTTT TCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGGAAGGCATAC AAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACATCACATGTCA GCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGTTTTTATTGG TGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGGTCACAGAGA TCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATGGAGGCAGGG CAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAAGTTTCGGGC ACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTTGAGAGCAGA CAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCATCCTAATAA GCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCTTATCTGTAA GCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTA GGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAGGAATTCA GCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTGGCTCTGTTC TGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCTTGTTCCCTG AACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGATTTCATATTG TTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCCTGAGGTGAC ATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTAAAGTAAAGA CAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGATAAGTGTCCA TGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAG AAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCATGAAATCTT CAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCTGTTTGGGGT CCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACACATAGGATT CAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGT TTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAGTGGCCCCAT GTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATATAGTTTCGA AAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTCAGGGCAGGC TCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATTATGATGGAC CACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAGGGAAAGGGA TAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGATTCCTGATT GTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGCCAGTGTCTG AGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCATCAGCAGAT GTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAAGATACCCCA GGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTTC ATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATGGGAAGCAAG TGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCCCCTCCCAGA GAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCC TTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCATCAACAGCAG GTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCTGGACATATT TTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCCTCTTTTTTC ACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGT GCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGTCTCCCATGG AATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGATG AGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCTGGCCCTCAG GCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCAGTCTCTGCA CTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAGAAGGCAGAG AGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGGGTCTGGGCT TGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAGAGTGGGGAA TGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATGCTTACCCAT AGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACTTTTTCCACT ATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATG CCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGC CCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGA AGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGC TGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGA GGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAA TGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAA ATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGC TGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCT CTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTG GGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAA GAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTAT GTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATG AATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACC AAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGG AAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCT GCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGG CAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGT CTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAG GCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGG TTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGA GCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACT GGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACAC AAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACAC CTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGG TTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGAC AGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATG GCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGAC TCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAAC ATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGC CGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTT CTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTC TCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGT ATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGA AATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGG GGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAA CCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATA GGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACA AGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATT GCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAG ACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCA ATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTAT TTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCAT TTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTT GCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAG AGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGT TATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAG TGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATC ACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATT AAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGG GGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGC AGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAAT AAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCC GGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTT GAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCT CAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGG TTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGG ACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAA GGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAAT TCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTG CTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCA GAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACAT TTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCA GTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAAC AGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCT CCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGA AGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGG TGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAG TCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCT CACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTC ACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAG GTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGG AATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCT GGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTC ATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGAC CTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTG AAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCA AATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAAT TCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTG TGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGG TCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAG GGCATCACTTTTTCCACTATGACAAAGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01433.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0003 a0004 a0007 others(32): Show a0003 a0004 a0007 a0010 a0015 a0017 a0018 a0019 a0020 a0022 a0023 a0026 a0027 a0028 a0040 a0044 a0045 a0047 a0048 a0052 a0056 a0057 a0059 a0063 a0064 a0066 a0069 a0073 a0079 a0082 a0085 a0088 a0091 a0092 a0093	a0003c0005 a0003c0017 a0003c0086 others(38): Show a0003c0005 a0003c0017 a0003c0086 a0004c0003 a0004c0082 a0007c0006 a0007c0109 a0010c0008 a0015c0014 a0015c0044 a0017c0040 a0017c0115 a0018c0020 a0019c0026 a0020c0025 a0022c0022 a0023c0021 a0026c0041 a0027c0037 a0028c0036 a0040c0093 a0044c0118 a0045c0111 a0047c0110 a0048c0108 a0052c0090 a0056c0116 a0057c0114 a0059c0087 a0063c0080 a0064c0081 a0066c0053 a0069c0056 a0073c0054 a0079c0055 a0082c0078 a0085c0083 a0088c0049 a0091c0045 a0092c0043 a0093c0042	a0003c0005t0001 a0003c0017t0001 a0003c0086t0002 others(44): Show a0003c0005t0001 a0003c0017t0001 a0003c0086t0002 a0004c0003t0001 a0004c0003t0003 a0004c0003t0004 a0004c0082t0003 a0007c0006t0002 a0007c0109t0001 a0010c0008t0001 a0010c0008t0004 a0015c0014t0001 a0015c0044t0002 a0017c0040t0001 a0017c0040t0009 a0017c0115t0001 a0018c0020t0002 a0019c0026t0004 a0020c0025t0001 a0020c0025t0003 a0022c0022t0002 a0023c0021t0003 a0023c0021t0005 a0026c0041t0001 a0027c0037t0001 a0028c0036t0001 a0040c0093t0001 a0044c0118t0001 a0045c0111t0001 a0047c0110t0002 a0048c0108t0003 a0052c0090t0002 a0056c0116t0001 a0057c0114t0003 a0059c0087t0001 a0063c0080t0001 a0064c0081t0001 a0066c0053t0001 a0069c0056t0007 a0073c0054t0001 a0079c0055t0001 a0082c0078t0001 a0085c0083t0003 a0088c0049t0001 a0091c0045t0001 a0092c0043t0001 a0093c0042t0001	a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0094 others(90): Show a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0094 a0003c0005t0001g0095 a0003c0005t0001g0096 a0003c0005t0001g0097 a0003c0005t0001g0106 a0003c0005t0001g0115 a0003c0005t0001g0153 a0003c0005t0001g0154 a0003c0005t0001g0261 a0003c0017t0001g0098 a0003c0017t0001g0099 a0003c0017t0001g0100 a0003c0017t0001g0101 a0003c0086t0002g0093 a0004c0003t0001g0123 a0004c0003t0001g0148 a0004c0003t0003g0009 a0004c0003t0003g0012 a0004c0003t0003g0134 a0004c0003t0003g0137 a0004c0003t0003g0138 a0004c0003t0003g0141 a0004c0003t0003g0142 a0004c0003t0003g0144 a0004c0003t0003g0149 a0004c0003t0003g0152 a0004c0003t0004g0228 a0004c0082t0003g0133 a0007c0006t0002g0006 a0007c0006t0002g0058 a0007c0006t0002g0062 a0007c0006t0002g0065 a0007c0006t0002g0066 a0007c0006t0002g0067 a0007c0006t0002g0080 a0007c0006t0002g0147 a0007c0109t0001g0063 a0010c0008t0001g0202 a0010c0008t0001g0243 a0010c0008t0001g0244 a0010c0008t0001g0245 a0010c0008t0001g0246 a0010c0008t0001g0249 a0010c0008t0004g0242 a0015c0014t0001g0087 a0015c0014t0001g0089 a0015c0014t0001g0112 a0015c0014t0001g0113 a0015c0044t0002g0088 a0017c0040t0001g0044 a0017c0040t0009g0039 a0017c0115t0001g0040 a0018c0020t0002g0051 a0018c0020t0002g0052 a0018c0020t0002g0053 a0019c0026t0004g0103 a0019c0026t0004g0104 a0019c0026t0004g0105 a0020c0025t0001g0014 a0020c0025t0003g0214 a0022c0022t0002g0211 a0022c0022t0002g0212 a0022c0022t0002g0235 a0023c0021t0003g0121 a0023c0021t0005g0010 a0026c0041t0001g0038 a0026c0041t0001g0042 a0027c0037t0001g0008 a0028c0036t0001g0120 a0028c0036t0001g0209 a0040c0093t0001g0048 a0044c0118t0001g0016 a0045c0111t0001g0061 a0047c0110t0002g0015 a0048c0108t0003g0035 a0052c0090t0002g0037 a0056c0116t0001g0041 a0057c0114t0003g0043 a0059c0087t0001g0170 a0063c0080t0001g0164 a0064c0081t0001g0241 a0066c0053t0001g0229 a0069c0056t0007g0247 a0073c0054t0001g0213 a0079c0055t0001g0117 a0082c0078t0001g0157 a0085c0083t0003g0143 a0088c0049t0001g0136 a0091c0045t0001g0114 a0092c0043t0001g0090 a0093c0042t0001g0110	99	282	0.3511	-12177	c.350 others(9): Show c.3506_4666del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	30/56	3523/7984			INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122601959	TGTCAGCC others(4052): Show TGTCAGCCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTC CTGGATGATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCC CCACAATGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTG TCATCTGCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTG GAGTTTGCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACT CACAGATTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTG CTAAGAATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCAC TTAGGACAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCC TGAGGCAGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGG CTCCATTTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATA GGACAGACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGA ACCAAAGATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGA GGTCTGGAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGT TCTATCAGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTC TCAGAACGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGC AGCCCCCATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGG GCTTGAAGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTG CTGACTCAGGAACACTTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCA ACTGGGTTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATA GTGGACAGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATG TGCATGGCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTG TCAGACTCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTG TGTAACATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGT CCCAGCCGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATG TCCCTTCTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCC TGTTTCTCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACC GGCTGTATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGT CTGAGAAATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGT GTTGGGGGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTA GCAAAACCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCA CAAATAGGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAAT ATCACAAGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATT AAAATTGCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTAT CAGGAGACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAG GAGGCAATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGG GCTTATTTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGC GGCCATTTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATG TTCCTTGCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGA AGGAAGAGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTT TAAGGTTATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTT TCACAGTGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCA ATCATCACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGAT GGGATTAAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATT GATTGGGGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGA GATTGCAGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGA ACTAATAAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCC TCAGCCGGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAG TGCTTTGAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAAC CCCTCTCAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCT TACAGGTTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATA TTCAGGACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCT GTTCAAGGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGG AAAAATTCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGG TTTGTGCTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCT TAGCCAGAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCC TAACATTTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCC TAGTCAGTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCC TCTAACAGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTC TGGTCTCCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGAC CTGGGAAGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTT GCCAGGTGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCC TTCAAGTCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGC CAACCTCACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTA GGGCTCACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGG CTCAAGGTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGA AGGTGGAATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAG GGTGCTGGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAG ATCCTCATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTAC TGGGACCTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAG CAGGTGAAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCA CTGGCAAATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTC CTGAATTCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCAT CCTTTGTGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCT CTGGGGTCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTA GAATAGGGCATCACTTTTTCCACTATGACAAAGTTTAACCTCTGGGTGCA GCTATCTTCCATCATGACTGCATGCCCTGGTGACTTCTGCATTCGTATTG AAACTTGACTACTTTGCCCACTGCCCTGATTGTTGTCCATGCCTTATCCT TGACCTCATATTTGAGATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGAT CTGAATCCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAG GGCCGAGTGGAGGTCCTATACCGAGGCTCCTGGGGCACCGTGTGTGATGA CTACTGGGACACCAATGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTG GCTGGGCCAC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00673.hp2 HG01081.hp2 HG01099.hp2 others(18): Show HG00673.hp2 HG01081.hp2 HG01099.hp2 HG01928.hp1 HG01934.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02738.hp2 NA18939.hp1 NA18946.hp2 NA18950.hp2 NA18960.hp2 NA18977.hp2 NA18982.hp2 NA19007.hp1 NA19058.hp1 NA19065.hp2 NA19070.hp2 NA19082.hp1	a0001 a0012 a0046 others(2): Show a0001 a0012 a0046 a0062 a0072	a0001c0001 a0001c0004 a0001c0074 others(5): Show a0001c0001 a0001c0004 a0001c0074 a0012c0013 a0012c0105 a0046c0112 a0062c0051 a0072c0075	a0001c0001t0002 a0001c0004t0001 a0001c0004t0003 others(6): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0003 a0001c0074t0002 a0012c0013t0001 a0012c0105t0002 a0046c0112t0003 a0062c0051t0002 a0072c0075t0002	a0001c0001t0002g0165 a0001c0001t0002g0179 a0001c0001t0002g0183 others(18): Show a0001c0001t0002g0165 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0227 a0001c0001t0002g0232 a0001c0001t0002g0266 a0001c0004t0001g0118 a0001c0004t0001g0162 a0001c0004t0001g0178 a0001c0004t0001g0184 a0001c0004t0001g0185 a0001c0004t0003g0176 a0001c0074t0002g0199 a0012c0013t0001g0056 a0012c0105t0002g0076 a0046c0112t0003g0146 a0062c0051t0002g0167 a0072c0075t0002g0187	21	282	0.0745	-4059	c.366 others(17): Show c.3668-276_4055-277del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	30/56				INFO_REALIGN_3_PRIME	chr10	TogoVar
DUSP13_chr10_75089436_75104512	75099203	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0052 a0001c0006t0001g0014 a0001c0006t0001g0053 a0001c0007t0001g0017 a0001c0012t0001g0050 a0001c0013t0001g0058	164	404	0.4059	-1	c.234 others(4): Show c.234delA	p.Ala others(4): Show p.Ala80fs	DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding	1/4	309/1320	234/1005	78/334		chr10	TogoVar

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