Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AMPH_chr7_38378704_38636373	38610260	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0166 a0001c0005t0001g0166	1	288	0.0035	13	c.69+ others(30): Show c.69+21022_69+21023insCTTTCTTTCTTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38610304	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	288	0.0035	13	c.69+ others(30): Show c.69+20978_69+20979insCTCTCTCTCTCTC	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMTN_chr4_70513569_70537743	70518739	A A	AGTAACAC others(6): Show AGTAACACTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02886.hp1 HG02896.hp1 others(7): Show HG02145.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056	10	458	0.0218	13	c.-15 others(25): Show c.-15-21_-15-9dupAACACTTTTTTGT	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
AMZ1_chr7_2683202_2724683	2704588	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG03579.hp2 others(1): Show HG02055.hp2 HG02717.hp2 HG03579.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0080 a0002c0007t0013 a0002c0007t0049 others(1): Show a0001c0001t0080 a0002c0007t0013 a0002c0007t0049 a0002c0007t0156	a0001c0001t0080g0151 a0002c0007t0013g0047 a0002c0007t0049g0042 others(1): Show a0001c0001t0080g0151 a0002c0007t0013g0047 a0002c0007t0049g0042 a0002c0007t0156g0154	4	438	0.0091	13	c.472 others(30): Show c.472+1713_472+1725dupTTTTTTTTTTTTT	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145026987	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	336	0.0030	13	c.328 others(32): Show c.328-31385_328-31384insATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034523	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA21309.hp1 HG00642.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0002 a0001c0001t0001g0042	2	336	0.0060	13	c.327 others(32): Show c.327+30048_327+30049insTATATATATATAT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC13_chr3_134472706_134490985	134474506	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(151): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02922.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0002g0006 a0001c0001t0003g0009 a0001c0001t0005g0012 a0001c0001t0006g0019 a0001c0001t0007g0042 a0001c0001t0009g0039	154	394	0.3909	13	c.40 others(24): Show c.4083_*4084insAAAAAAAAAAAAA	ANAPC13	ENSG00000129055.13	transcript	ENST00000354910.10	protein_coding		3199		chr3	TogoVar
ANAPC13_chr3_134472706_134490985	134474512	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	13	c.40 others(24): Show c.4077_*4078insGAAAAAAAAAAAA	ANAPC13	ENSG00000129055.13	transcript	ENST00000354910.10	protein_coding		3193		chr3	TogoVar
ANAPC16_chr10_72211012_72240860	72220325	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp2 HG03098.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0324 a0001c0002t0004g0189 a0001c0002t0004g0324	2	352	0.0057	13	c.-27 others(30): Show c.-27-3557_-27-3545dupAAAAAAAAAAAAA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111764892	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0116 a0001c0005t0009g0116	1	370	0.0027	13	c.43 others(24): Show c.4386_*4398dupAAAAAAAAAAAAA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2747		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764893	T T	TATATATA others(6): Show TATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02056.hp1 HG02080.hp2 others(1): Show HG02015.hp1 HG02056.hp1 HG02080.hp2 NA18612.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0003 a0001c0006t0005 a0001c0006t0016 a0001c0004t0003 a0001c0006t0005 a0001c0006t0016	a0001c0004t0003g0251 a0001c0006t0005g0026 a0001c0006t0005g0029 others(1): Show a0001c0004t0003g0251 a0001c0006t0005g0026 a0001c0006t0005g0029 a0001c0006t0016g0149	4	370	0.0108	13	c.43 others(24): Show c.4397_*4398insTATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2746		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00642.hp1 others(24): Show HG00280.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG01099.hp1 HG01358.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02257.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03491.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp2 NA18906.hp1 NA18943.hp2 NA18999.hp1 NA19001.hp2 NA19010.hp2 NA19055.hp2 NA19064.hp1 NA19072.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0002t0002 a0001c0003t0004 a0001c0003t0019 others(4): Show a0001c0002t0002 a0001c0003t0004 a0001c0003t0019 a0001c0004t0003 a0001c0006t0005 a0001c0007t0002 a0001c0007t0004	a0001c0002t0002g0211 a0001c0002t0002g0227 a0001c0002t0002g0228 others(24): Show a0001c0002t0002g0211 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0004g0271 a0001c0003t0004g0272 a0001c0003t0004g0273 a0001c0003t0004g0274 a0001c0003t0004g0276 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0004g0289 a0001c0003t0004g0290 a0001c0003t0004g0293 a0001c0003t0004g0294 a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0019g0283 a0001c0004t0003g0189 a0001c0006t0005g0028 a0001c0006t0005g0029 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0144 a0001c0007t0004g0359 a0001c0007t0004g0360	27	370	0.0730	13	c.247 others(30): Show c.2476+270_2476+282dupTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111833681	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(110): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02976.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19006.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19081.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0014 a0001c0015 a0001c0018 a0001c0029 a0004c0030	a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 others(14): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0003t0004 a0001c0003t0019 a0001c0005t0006 a0001c0006t0005 a0001c0006t0013 a0001c0006t0016 a0001c0007t0004 a0001c0007t0007 a0001c0012t0002 a0001c0014t0002 a0001c0015t0002 a0001c0018t0002 a0001c0029t0002 a0004c0030t0004	a0001c0001t0003g0356 a0001c0002t0002g0001 a0001c0002t0002g0151 others(107): Show a0001c0001t0003g0356 a0001c0002t0002g0001 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0190 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0199 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0004g0195 a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0265 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0004g0269 a0001c0003t0004g0270 a0001c0003t0004g0271 a0001c0003t0004g0275 a0001c0003t0004g0276 a0001c0003t0004g0277 a0001c0003t0004g0278 a0001c0003t0004g0280 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0003t0004g0284 a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0004g0292 a0001c0003t0004g0293 a0001c0003t0004g0296 a0001c0003t0004g0297 a0001c0003t0004g0298 a0001c0003t0004g0299 a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0019g0283 a0001c0005t0006g0305 a0001c0005t0006g0316 a0001c0005t0006g0325 a0001c0005t0006g0327 a0001c0005t0006g0329 a0001c0005t0006g0333 a0001c0006t0005g0002 a0001c0006t0005g0007 a0001c0006t0005g0008 a0001c0006t0005g0012 a0001c0006t0005g0015 a0001c0006t0005g0018 a0001c0006t0005g0023 a0001c0006t0005g0024 a0001c0006t0005g0025 a0001c0006t0005g0026 a0001c0006t0005g0027 a0001c0006t0005g0030 a0001c0006t0005g0031 a0001c0006t0005g0032 a0001c0006t0005g0035 a0001c0006t0013g0016 a0001c0006t0016g0149 a0001c0007t0004g0362 a0001c0007t0007g0254 a0001c0012t0002g0310 a0001c0014t0002g0198 a0001c0015t0002g0216 a0001c0018t0002g0365 a0001c0029t0002g0210 a0004c0030t0004g0285	113	370	0.3054	13	c.238 others(30): Show c.2385-383_2385-371dupTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	19/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111838085	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(121): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18956.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19010.hp2 NA19054.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19072.hp1 NA19078.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20805.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0002 a0001c0004 a0001c0006 others(9): Show a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0015 a0001c0017 a0001c0018 a0001c0029 a0006c0021 a0007c0020 a0008c0019	a0001c0002t0002 a0001c0002t0004 a0001c0004t0003 others(13): Show a0001c0002t0002 a0001c0002t0004 a0001c0004t0003 a0001c0004t0017 a0001c0006t0005 a0001c0006t0013 a0001c0006t0016 a0001c0007t0002 a0001c0011t0003 a0001c0015t0002 a0001c0017t0003 a0001c0018t0002 a0001c0029t0002 a0006c0021t0005 a0007c0020t0005 a0008c0019t0003	a0001c0002t0002g0001 a0001c0002t0002g0150 a0001c0002t0002g0151 others(118): Show a0001c0002t0002g0001 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0004g0195 a0001c0004t0003g0153 a0001c0004t0003g0154 a0001c0004t0003g0155 a0001c0004t0003g0157 a0001c0004t0003g0158 a0001c0004t0003g0159 a0001c0004t0003g0160 a0001c0004t0003g0163 a0001c0004t0003g0164 a0001c0004t0003g0165 a0001c0004t0003g0167 a0001c0004t0003g0168 a0001c0004t0003g0169 a0001c0004t0003g0171 a0001c0004t0003g0172 a0001c0004t0003g0173 a0001c0004t0003g0174 a0001c0004t0003g0176 a0001c0004t0003g0177 a0001c0004t0003g0178 a0001c0004t0003g0179 a0001c0004t0003g0180 a0001c0004t0003g0181 a0001c0004t0003g0183 a0001c0004t0003g0184 a0001c0004t0003g0185 a0001c0004t0003g0186 a0001c0004t0003g0189 a0001c0004t0003g0249 a0001c0004t0003g0250 a0001c0004t0017g0161 a0001c0006t0005g0002 a0001c0006t0005g0006 a0001c0006t0005g0007 a0001c0006t0005g0008 a0001c0006t0005g0010 a0001c0006t0005g0011 a0001c0006t0005g0015 a0001c0006t0005g0017 a0001c0006t0005g0018 a0001c0006t0005g0019 a0001c0006t0005g0020 a0001c0006t0005g0021 a0001c0006t0005g0022 a0001c0006t0005g0023 a0001c0006t0005g0024 a0001c0006t0005g0026 a0001c0006t0005g0027 a0001c0006t0005g0028 a0001c0006t0005g0029 a0001c0006t0005g0030 a0001c0006t0005g0031 a0001c0006t0005g0032 a0001c0006t0005g0035 a0001c0006t0013g0016 a0001c0006t0016g0149 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0142 a0001c0007t0002g0143 a0001c0007t0002g0144 a0001c0011t0003g0187 a0001c0011t0003g0188 a0001c0015t0002g0216 a0001c0017t0003g0156 a0001c0018t0002g0365 a0001c0029t0002g0210 a0006c0021t0005g0014 a0007c0020t0005g0009 a0008c0019t0003g0170	124	370	0.3351	13	c.211 others(30): Show c.2115+352_2115+353insTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	18/47			chr2	TogoVar
ANAPC7_chr12_110367900_110408708	110368308	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02109.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0108 a0001c0001t0001g0042 a0001c0001t0001g0108	2	298	0.0067	13	c.58 others(24): Show c.5835_*5836insTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding		4591		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110377728	A A	AGGCCACG others(6): Show AGGCCACGGGAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	298	0.0034	13	c.113 others(30): Show c.1133-124_1133-112dupGTTTCCCGTGGCC	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	8/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382457	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	298	0.0034	13	c.935 others(28): Show c.935+385_935+386insATATATATATATA	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387255	C C	CGAGAGAG others(6): Show CGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	298	0.0034	13	c.674 others(28): Show c.674+483_674+484insCTCTCTCTCTCTC	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387268	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	298	0.0034	13	c.674 others(28): Show c.674+458_674+470dupCTCTCTCTCTCTC	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387288	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	298	0.0034	13	c.674 others(28): Show c.674+450_674+451insGTCTCTCTCTCTC	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110392090	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	298	0.0034	13	c.408 others(30): Show c.408+3010_408+3011insTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	3/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996636	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	392	0.0026	13	c.148 others(30): Show c.1483+518_1483+519insATATATATATATA	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGEL2_chr1_212987182_213020867	212996638	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	392	0.0026	13	c.148 others(30): Show c.1483+516_1483+517insATATATATATATA	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	392	0.0026	13	c.148 others(30): Show c.1483+514_1483+515insATTTTTTTTTTTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	392	0.0026	13	c.148 others(30): Show c.1483+514_1483+515insATATATATATATA	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107481532	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02630.hp1 NA19074.hp2 others(1): Show HG00741.hp1 HG02630.hp1 NA19074.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0011g0076	4	292	0.0137	13	c.297 others(32): Show c.297+15717_297+15729dupTTTTTTTTTTTTT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6505354	T T	TATGTATA others(6): Show TATGTATATAAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0028 a0001c0016t0028	a0001c0016t0028g0250 a0001c0016t0028g0250	1	336	0.0030	13	c.132 others(32): Show c.1328-2094_1328-2093insTCTTTATATACAT	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6562552	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(45): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02132.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02738.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG06807.hp1 HG06807.hp2 NA18951.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA18998.hp1 NA19030.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0014 a0001c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0054 a0001c0001t0056 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0042 a0001c0002t0055 a0001c0003t0001 a0001c0003t0007 a0001c0004t0004 a0001c0004t0013 a0001c0005t0002 a0001c0005t0050 a0001c0006t0003 a0001c0006t0024 a0001c0007t0004 a0001c0009t0004 a0001c0011t0013 a0001c0011t0017 a0001c0014t0003 a0001c0030t0051	a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0179 others(45): Show a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0212 a0001c0001t0002g0197 a0001c0001t0006g0276 a0001c0001t0007g0204 a0001c0001t0054g0178 a0001c0001t0056g0245 a0001c0002t0001g0188 a0001c0002t0001g0214 a0001c0002t0003g0180 a0001c0002t0003g0187 a0001c0002t0003g0199 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0007g0194 a0001c0002t0042g0184 a0001c0002t0055g0170 a0001c0003t0001g0172 a0001c0003t0007g0182 a0001c0004t0004g0195 a0001c0004t0004g0202 a0001c0004t0013g0186 a0001c0005t0002g0191 a0001c0005t0002g0193 a0001c0005t0002g0201 a0001c0005t0002g0203 a0001c0005t0002g0209 a0001c0005t0002g0211 a0001c0005t0002g0213 a0001c0005t0050g0208 a0001c0006t0003g0189 a0001c0006t0003g0200 a0001c0006t0024g0174 a0001c0007t0004g0176 a0001c0007t0004g0210 a0001c0009t0004g0243 a0001c0011t0013g0185 a0001c0011t0017g0190 a0001c0014t0003g0177 a0001c0030t0051g0173	48	336	0.1429	13	c.288 others(26): Show c.288+82_288+94dupAAAAAAAAAAAAA	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8			chr8	TogoVar
ANGPTL1_chr1_178844535_178876077	178856394	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp1 HG02451.hp2 others(2): Show HG01074.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012	a0001c0001t0003g0281 a0001c0001t0005g0038 a0001c0001t0011g0055 others(1): Show a0001c0001t0003g0281 a0001c0001t0005g0038 a0001c0001t0011g0055 a0001c0001t0012g0058	5	424	0.0118	13	c.824 others(30): Show c.824-2620_824-2608dupAAAAAAAAAAAAA	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5			chr1	TogoVar
ANGPTL2_chr9_127082348_127127635	127122268	G G	GCTGCCTC others(6): Show GCTGCCTCTCGCCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0169 a0003c0009t0001g0169	1	372	0.0027	13	c.-50 others(26): Show c.-50+34_-50+46dupGGGCGAGAGGCAG	ANGPTL2	ENSG00000136859.10	transcript	ENST00000373425.8	protein_coding	1/4			chr9	TogoVar
ANHX_chr12_133213312_133240877	133235076	G G	GCCTGCAT others(6): Show GCCTGCATCATCTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp1 HG02155.hp1 others(7): Show HG00544.hp2 HG02080.hp1 HG02155.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp2 NA18992.hp2 NA19004.hp1 NA19055.hp2 NA19074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0191 others(7): Show a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0191 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0268 a0003c0003t0002g0122	10	442	0.0226	13	c.-22 others(28): Show c.-22-699_-22-698insGAGATGATGCAGG	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	1/9			chr12	TogoVar
ANHX_chr12_133213312_133240877	133235076	G G	GCCTGCAT others(6): Show GCCTGCATCATTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp2 HG02615.hp2 others(3): Show HG01106.hp2 HG02109.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0008 a0004c0004t0002 a0004c0004t0008	a0004c0004t0002g0065 a0004c0004t0002g0066 a0004c0004t0002g0218 others(1): Show a0004c0004t0002g0065 a0004c0004t0002g0066 a0004c0004t0002g0218 a0004c0004t0008g0008	6	442	0.0136	13	c.-22 others(28): Show c.-22-699_-22-698insGAAATGATGCAGG	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	1/9			chr12	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03834.hp1 NA18973.hp1 others(2): Show HG02717.hp1 HG03834.hp1 NA18973.hp1 NA19010.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0001c0037	a0001c0001t0002 a0001c0004t0002 a0001c0008t0002 others(1): Show a0001c0001t0002 a0001c0004t0002 a0001c0008t0002 a0001c0037t0003	a0001c0001t0002g0254 a0001c0004t0002g0249 a0001c0004t0002g0251 others(2): Show a0001c0001t0002g0254 a0001c0004t0002g0249 a0001c0004t0002g0251 a0001c0008t0002g0252 a0001c0037t0003g0233	5	278	0.0180	13	c.229 others(30): Show c.2295+590_2295+591insATATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	278	0.0036	13	c.229 others(30): Show c.2295+590_2295+591insAAATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK1_chr8_41648225_41802622	41703451	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18612.hp2 NA19079.hp1 others(1): Show HG02683.hp1 NA18612.hp2 NA19079.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0151 a0001c0001t0002g0205 a0001c0001t0002g0260 others(1): Show a0001c0001t0002g0151 a0001c0001t0002g0205 a0001c0001t0002g0260 a0001c0004t0002g0070	4	278	0.0144	13	c.229 others(30): Show c.2295+589_2295+590insTATATATATATAT	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK2_chr4_113044653_113388736	113156371	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp1 HG03195.hp1 others(6): Show HG02559.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0002c0033 a0004c0005	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0002c0002t0001 a0002c0033t0001 a0004c0005t0001	a0001c0001t0001g0022 a0001c0001t0001g0178 a0001c0004t0001g0020 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0178 a0001c0004t0001g0020 a0001c0007t0001g0018 a0001c0007t0001g0021 a0002c0002t0001g0016 a0002c0002t0001g0086 a0002c0033t0001g0017 a0004c0005t0001g0019	9	178	0.0506	13	c.85- others(30): Show c.85-18035_85-18034insTTTTTTTTTTTTT	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113163764	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	178	0.0056	13	c.85- others(30): Show c.85-10636_85-10624dupAAAAAAAAAAAAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113233106	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02965.hp2 HG00609.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0075 a0002c0003t0001g0050 a0002c0002t0001g0075 a0002c0003t0001g0050	2	178	0.0112	13	c.483 others(28): Show c.483+881_483+893dupTTTTTTTTTTTTT	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	5/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60032194	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02895.hp1 HG03139.hp1 others(4): Show HG02602.hp2 HG02895.hp1 HG03139.hp1 HG03540.hp1 HG03927.hp1 NA18939.hp1 NA19005.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0001c0054 a0020c0032	a0001c0001t0003 a0001c0001t0044 a0001c0007t0003 others(3): Show a0001c0001t0003 a0001c0001t0044 a0001c0007t0003 a0001c0008t0057 a0001c0054t0005 a0020c0032t0019	a0001c0001t0003g0055 a0001c0001t0003g0143 a0001c0001t0044g0189 others(4): Show a0001c0001t0003g0055 a0001c0001t0003g0143 a0001c0001t0044g0189 a0001c0007t0003g0056 a0001c0008t0057g0031 a0001c0054t0005g0151 a0020c0032t0019g0191	7	192	0.0365	13	c.20 others(30): Show c.20-2381_*20-2369dupAAAAAAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	43/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60036422	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02897.hp2 others(2): Show HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG06807.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0080 a0007c0017 others(1): Show a0001c0001 a0003c0080 a0007c0017 a0007c0019	a0001c0001t0006 a0003c0080t0038 a0007c0017t0049 others(1): Show a0001c0001t0006 a0003c0080t0038 a0007c0017t0049 a0007c0019t0006	a0001c0001t0006g0003 a0003c0080t0038g0020 a0007c0017t0049g0023 others(2): Show a0001c0001t0006g0003 a0003c0080t0038g0020 a0007c0017t0049g0023 a0007c0019t0006g0006 a0007c0019t0006g0007	5	192	0.0260	13	c.19 others(30): Show c.19+6237_*19+6249dupAAAAAAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	43/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60079226	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0168 a0001c0002t0018g0168	1	192	0.0052	13	c.443 others(32): Show c.4432+1310_4432+1311insTGTGTGTGTGTGT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	36/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02615.hp1 HG02809.hp2	a0010 a0010	a0010c0053 a0010c0088 a0010c0053 a0010c0088	a0010c0053t0002 a0010c0088t0032 a0010c0053t0002 a0010c0088t0032	a0010c0053t0002g0027 a0010c0088t0032g0005 a0010c0053t0002g0027 a0010c0088t0032g0005	2	192	0.0104	13	c.332 others(32): Show c.3328+5658_3328+5670dupAAAAAAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60141561	G G	GTTTTTTG others(6): Show GTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0182 a0001c0016t0002g0182	1	192	0.0052	13	c.261 others(32): Show c.2615-2475_2615-2474insAAAAAACAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	23/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60141561	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0088 a0010c0088	a0010c0088t0032 a0010c0088t0032	a0010c0088t0032g0005 a0010c0088t0032g0005	1	192	0.0052	13	c.261 others(32): Show c.2615-2487_2615-2475dupAAAAAAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	23/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60158685	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02683.hp2 HG02809.hp1 others(5): Show HG02135.hp1 HG02683.hp2 HG02809.hp1 HG02886.hp2 HG03139.hp2 HG03471.hp1 NA18973.hp1 NA19240.hp2	a0001 a0007 a0013 others(2): Show a0001 a0007 a0013 a0021 a0025	a0001c0001 a0001c0007 a0007c0017 others(3): Show a0001c0001 a0001c0007 a0007c0017 a0013c0092 a0021c0064 a0025c0078	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0007t0003 a0007c0017t0049 a0013c0092t0006 a0021c0064t0053 a0025c0078t0001	a0001c0001t0001g0082 a0001c0001t0009g0013 a0001c0001t0010g0019 others(5): Show a0001c0001t0001g0082 a0001c0001t0009g0013 a0001c0001t0010g0019 a0001c0007t0003g0021 a0007c0017t0049g0023 a0013c0092t0006g0004 a0021c0064t0053g0041 a0025c0078t0001g0028	8	192	0.0417	13	c.261 others(32): Show c.2614+7905_2614+7906insAAAAAAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	23/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60240306	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0084 a0001c0011t0004g0084	1	192	0.0052	13	c.799 others(30): Show c.799-5521_799-5520insAAAAATATATATA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	7/43			chr10	TogoVar
ANKAR_chr2_189669670_189751647	189736502	T T	TTTTTTTT others(6): Show TTTTTTTTTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	296	0.0034	13	c.342 others(32): Show c.3424-1180_3424-1179insTTTTTTTGTGTGT	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKDD1A_chr15_64906902_64963691	64951553	T T	TTTCTTTT others(6): Show TTTCTTTTCTTCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG01169.hp1 others(4): Show HG00639.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp1 HG02083.hp1 HG02735.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 a0001c0002 a0001c0004 a0002c0003	a0001c0002t0006 a0001c0004t0003 a0002c0003t0006 a0001c0002t0006 a0001c0004t0003 a0002c0003t0006	a0001c0002t0006g0011 a0001c0002t0006g0012 a0001c0002t0006g0013 others(4): Show a0001c0002t0006g0011 a0001c0002t0006g0012 a0001c0002t0006g0013 a0001c0002t0006g0014 a0001c0002t0006g0018 a0001c0004t0003g0307 a0002c0003t0006g0166	7	338	0.0207	13	c.148 others(32): Show c.1483+1581_1483+1582insTTCTTTTCTTCTG	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14			chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64951558	C C	CTTTTCTT others(6): Show CTTTTCTTCTGCTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01074.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0271 a0001c0001t0001g0272	2	338	0.0059	13	c.148 others(32): Show c.1483+1590_1483+1591insCTTCTGCTTTTTT	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64953655	T T	TTTCTTTC others(6): Show TTTCTTTCTCCTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	338	0.0030	13	c.148 others(32): Show c.1484-3448_1484-3447insTTCTTTCTCCTTC	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14			chr15	TogoVar

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