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 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
CPNE8_chr12_38647203_38910591	38876538	TTTACTTG others(5): Show TTTACTTGTCACA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp2 HG03239.hp1 others(1): Show HG02698.hp2 HG03017.hp2 HG03239.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0020 a0001c0003t0011 a0001c0001t0020 a0001c0003t0011	a0001c0001t0020g0094 a0001c0003t0011g0001 a0001c0003t0011g0002 others(1): Show a0001c0001t0020g0094 a0001c0003t0011g0001 a0001c0003t0011g0002 a0001c0003t0011g0003	4	342	0.0117	-12	c.99- others(27): Show c.99-2039_99-2028delTGTGACAAGTAA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38894658	ACTCTCTC others(5): Show ACTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01071.hp1 others(59): Show HG00733.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01943.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02293.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp2 HG03471.hp2 HG03492.hp2 HG04204.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp2 NA18978.hp1 NA18982.hp2 NA18984.hp1 NA18993.hp1 NA18995.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19072.hp1 NA19077.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0027 a0001c0002t0002 a0002c0005t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0095 others(59): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0003g0136 a0001c0001t0003g0307 a0001c0001t0004g0277 a0001c0001t0005g0341 a0001c0001t0005g0342 a0001c0001t0007g0090 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0224 a0001c0001t0012g0227 a0001c0001t0012g0231 a0001c0001t0017g0171 a0001c0001t0017g0172 a0001c0001t0021g0022 a0001c0001t0027g0170 a0001c0002t0002g0240 a0002c0005t0001g0023	62	342	0.1813	-12	c.98+ others(29): Show c.98+10767_98+10778delAGAGAGAGAGAG	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902315	GGAAAGAA others(5): Show GGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01070.hp2 HG01071.hp2 others(8): Show HG00544.hp1 HG01070.hp2 HG01071.hp2 HG01255.hp1 HG02083.hp2 HG02165.hp1 NA18947.hp1 NA18978.hp2 NA18982.hp1 NA18984.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024	a0001c0001t0001g0026 a0001c0001t0001g0180 a0001c0001t0001g0185 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0006g0181 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0024g0178	11	342	0.0322	-12	c.98+ others(27): Show c.98+3110_98+3121delTTTCTTTCTTTC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902417	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0338 a0001c0001t0007g0338	1	342	0.0029	-12	c.98+ others(27): Show c.98+3008_98+3019delCTTTCTTTCTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9714639	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG03041.hp1 others(2): Show HG02055.hp2 HG02717.hp1 HG03041.hp1 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0186 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0351	5	440	0.0114	-12	c.651 others(27): Show c.651-257_651-246delAAAAAAAAAAAA	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE9_chr3_9698833_9734908	9724719	CCTATCTA others(5): Show CCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00735.hp2 others(33): Show HG00408.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03579.hp1 HG04228.hp1 HG06807.hp2 NA18986.hp2 NA19004.hp1 NA19030.hp2 NA19078.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0048 a0001c0001t0001g0053 others(31): Show a0001c0001t0001g0013 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0210 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0284 a0001c0001t0001g0323 a0001c0001t0001g0339 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0359 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0002t0001g0012 a0002c0003t0001g0241	36	440	0.0818	-12	c.124 others(31): Show c.1242-1187_1242-1176delATCTATCTATCT	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPOX_chr3_98574446_98598611	98589562	TAAAACTC others(5): Show TAAAACTCCCCAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01978.hp1 HG02273.hp1 others(4): Show HG01168.hp1 HG01978.hp1 HG02273.hp1 HG02293.hp2 HG03017.hp2 HG03491.hp2 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0013 a0003c0004t0003g0090 a0003c0004t0003g0013 a0003c0004t0003g0090	7	448	0.0156	-12	c.812 others(27): Show c.812-720_812-709delCTGGGGAGTTTT	CPOX	ENSG00000080819.9	transcript	ENST00000647941.2	protein_coding	3/6			chr3	TogoVar
CPO_chr2_206934518_206974474	206943706	AGATAGAT others(5): Show AGATAGATAGATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG00280.hp2 HG01167.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0330 a0002c0003t0001g0357 a0002c0003t0001g0330 a0002c0003t0001g0357	2	422	0.0047	-12	c.68+ others(27): Show c.68+4040_68+4051delGATAGATAGATG	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8			chr2	TogoVar
CPO_chr2_206934518_206974474	206943728	TGATAGAT others(5): Show TGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01358.hp2 HG02109.hp2 others(3): Show HG01123.hp1 HG01358.hp2 HG02109.hp2 HG03491.hp1 HG03834.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 others(3): Show a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0245 a0003c0005t0001g0097 a0003c0005t0001g0257	6	422	0.0142	-12	c.68+ others(27): Show c.68+4101_68+4112delAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206958728	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18977.hp2 HG02055.hp1 NA18977.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0201 a0003c0006t0001g0259 a0001c0001t0001g0201 a0003c0006t0001g0259	2	422	0.0047	-12	c.372 others(27): Show c.372+342_372+353delTTTTTTTTTTTT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206967331	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00621.hp1 others(31): Show HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01891.hp2 HG02080.hp2 HG02083.hp1 HG02300.hp1 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG03130.hp2 HG04115.hp2 NA18747.hp1 NA18945.hp2 NA18950.hp2 NA18960.hp1 NA18964.hp2 NA18979.hp1 NA18991.hp1 NA18999.hp2 NA19062.hp1 NA19081.hp1 NA19082.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0003c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0032 others(27): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0251 a0001c0001t0001g0278 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0002g0297 a0001c0004t0001g0286 a0003c0006t0001g0281	34	422	0.0806	-12	c.778 others(27): Show c.778-923_778-912delTATATATATATA	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206967354	TATATAGA others(5): Show TATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18986.hp2 NA18943.hp1 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0082 a0002c0002t0001g0087	2	422	0.0047	-12	c.778 others(27): Show c.778-887_778-876delTAGATATAGATA	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206970150	AATTCGAG others(5): Show AATTCGAGGCAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	422	0.0024	-12	c.71 others(21): Show c.715_*726delATTCGAGGCAAC	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding		677		chr2	TogoVar
CPPED1_chr16_12654799_12808887	12747432	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	290	0.0035	-12	c.289 others(31): Show c.289+33741_289+33752delATTTATTTATTT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12777903	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	290	0.0035	-12	c.289 others(29): Show c.289+3270_289+3281delAAAAAAAAAAAA	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96690829	AGGGCCAC others(5): Show AGGGCCACATTAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0045 a0006c0010t0001g0045	1	126	0.0079	-12	c.-35 others(31): Show c.-35+45430_-35+45441delGCCACATTATGG	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96717024	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02615.hp1 NA18522.hp2 others(2): Show HG00733.hp2 HG02615.hp1 NA18522.hp2 NA18964.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0002t0001g0101 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0002t0001g0101 a0001c0002t0001g0115 a0001c0004t0001g0114	5	126	0.0397	-12	c.-34 others(31): Show c.-34-67798_-34-67787delTATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96730866	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0090 a0009c0012t0001g0090	1	126	0.0079	-12	c.-34 others(31): Show c.-34-53983_-34-53972delATATATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96757354	GATAATAA others(5): Show GATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02280.hp2 others(5): Show HG02055.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp2 HG02723.hp2 NA18949.hp1 NA18962.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0078 others(5): Show a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0002g0021 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0122 a0001c0002t0002g0004	8	126	0.0635	-12	c.-34 others(31): Show c.-34-27474_-34-27463delAATAATAATAAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96777754	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp1 HG02647.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	126	0.0159	-12	c.-34 others(29): Show c.-34-7108_-34-7097delATATATTTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96787525	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01516.hp1 HG01517.hp2 others(19): Show HG01081.hp2 HG01516.hp1 HG01517.hp2 HG02040.hp1 HG02622.hp1 HG02630.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp1 NA18945.hp1 NA18979.hp1 NA18990.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19084.hp2 NA19088.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0005 a0004c0006 a0001c0002 a0003c0005 a0004c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0003c0005t0001 a0004c0006t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0049 others(19): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0049 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0086 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0002g0085 a0001c0002t0003g0001 a0003c0005t0001g0068 a0004c0006t0001g0074 a0004c0006t0001g0075	22	126	0.1746	-12	c.433 others(29): Show c.433+2214_433+2225delTTTTTTTTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96880518	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03453.hp1 HG02109.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0009 a0001c0002t0002g0039 a0001c0001t0001g0009 a0001c0002t0002g0039	2	126	0.0159	-12	c.849 others(27): Show c.849+561_849+572delTATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96908107	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02257.hp2 HG02280.hp2 others(1): Show HG02004.hp2 HG02257.hp2 HG02280.hp2 HG02723.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0001 a0001c0002t0002 a0006c0010t0001 a0001c0002t0001 a0001c0002t0002 a0006c0010t0001	a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0002g0004 others(1): Show a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0002g0004 a0006c0010t0001g0045	4	126	0.0318	-12	c.849 others(31): Show c.849+28127_849+28138delGTGTGTGTGTGT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96991551	GTCATAAT others(5): Show GTCATAATAATAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG03516.hp1 HG02622.hp1 HG02886.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0028 a0003c0005t0001g0007 a0003c0005t0001g0068 a0001c0001t0001g0028 a0003c0005t0001g0007 a0003c0005t0001g0068	3	126	0.0238	-12	c.961 others(31): Show c.961+25507_961+25518delCATAATAATAAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96991553	CATAATAA others(5): Show CATAATAATAATA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01517.hp1 others(12): Show HG01261.hp1 HG01261.hp2 HG01517.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02630.hp2 HG02809.hp2 HG03017.hp2 HG03195.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0061 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0061 a0001c0002t0001g0025 a0001c0002t0001g0040 a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0072 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0002g0050 a0001c0002t0002g0051 a0002c0003t0001g0053 a0002c0003t0001g0089	15	126	0.1191	-12	c.961 others(31): Show c.961+25546_961+25557delAATAATAATAAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96995583	AAGGTCTG others(5): Show AAGGTCTGATAGC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	126	0.0079	-12	c.961 others(31): Show c.961+29540_961+29551delGTCTGATAGCAG	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97066916	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	126	0.0079	-12	c.125 others(29): Show c.1255+724_1255+735delTTTTTTTTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97078763	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	126	0.0079	-12	c.125 others(33): Show c.1255+12586_1255+12597delTCTCTCTCTCTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPS1_chr2_210551599_210684107	210571855	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG03041.hp1 others(1): Show HG02258.hp1 HG02559.hp1 HG03041.hp1 HG03195.hp1	a0002 a0007 a0009 a0002 a0007 a0009	a0002c0013 a0007c0014 a0009c0030 a0002c0013 a0007c0014 a0009c0030	a0002c0013t0007 a0007c0014t0007 a0009c0030t0007 a0002c0013t0007 a0007c0014t0007 a0009c0030t0007	a0002c0013t0007g0073 a0007c0014t0007g0061 a0007c0014t0007g0062 others(1): Show a0002c0013t0007g0073 a0007c0014t0007g0061 a0007c0014t0007g0062 a0009c0030t0007g0074	4	340	0.0118	-12	c.127 others(29): Show c.127-1399_127-1388delGTGTGTGTGTGT	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPS1_chr2_210551599_210684107	210678585	CTTTTCTT others(5): Show CTTTTCTTTTTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0027 a0003c0003t0027	a0003c0003t0027g0242 a0003c0003t0027g0242	1	340	0.0029	-12	c.61 others(21): Show c.611_*622delCTTTTTCTTTTT	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	38/38	611	INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9431529	ATTTTTTT others(5): Show ATTTTTTTTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03471.hp1 HG00741.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0176 a0001c0001t0002g0063 a0001c0001t0001g0176 a0001c0001t0002g0063	2	230	0.0087	-12	c.341 others(27): Show c.341+671_341+682delTCTTTTTTTTTT	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9470940	ATGGTGAC others(5): Show ATGGTGACTCCTG	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	230	0.0044	-12	c.185 others(29): Show c.1857-402_1857-391delTGGTGACTCCTG	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	16/17			chr2	TogoVar
CPSF4L_chr17_73243449_73266880	73265179	AAAACAAA others(5): Show AAAACAAACAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA19054.hp2 NA18981.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0002g0145 a0001c0001t0001g0031 a0001c0001t0002g0145	2	398	0.0050	-12	c.-33 others(23): Show c.-3373_-3362delGTTTGTTTGTTT	CPSF4L	ENSG00000187959.9	transcript	ENST00000344935.8	protein_coding		3300		chr17	TogoVar
CPSF4L_chr17_73243449_73266880	73266206	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	398	0.0025	-12	c.-44 others(23): Show c.-4400_-4389delAAAAAAAAAAAA	CPSF4L	ENSG00000187959.9	transcript	ENST00000344935.8	protein_coding		4327		chr17	TogoVar
CPSF4_chr7_99433943_99462373	99447255	CTTTCTTT others(5): Show CTTTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01081.hp2 others(48): Show HG00099.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18971.hp1 NA18989.hp1 NA18989.hp2 NA19002.hp2 NA19043.hp1 NA19054.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0003t0002 a0001c0003t0009 a0001c0003t0012	a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0061 others(45): Show a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0010g0075 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0109 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0307 a0001c0003t0009g0108 a0001c0003t0012g0300	51	364	0.1401	-12	c.155 others(27): Show c.155-850_155-839delCTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69272869	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0017 a0001c0001t0046g0017	1	392	0.0026	-12	c.33 others(23): Show c.3378_*3389delGTGTGTGTGTGT	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	10/10	10327	INFO_REALIGN_3_PRIME	chr12	TogoVar
CPT1B_chr22_50563861_50583427	50566072	TGTGAGCC others(5): Show TGTGAGCCACCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01884.hp2 HG01891.hp1 others(11): Show HG00140.hp2 HG01884.hp2 HG01891.hp1 HG02257.hp2 HG02602.hp1 HG02615.hp1 HG02895.hp2 HG03017.hp1 HG03654.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA19043.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0005 a0002c0006t0004 a0002c0006t0005 a0002c0002t0005 a0002c0006t0004 a0002c0006t0005	a0002c0002t0005g0017 a0002c0006t0004g0012 a0002c0006t0005g0029 others(2): Show a0002c0002t0005g0017 a0002c0006t0004g0012 a0002c0006t0005g0029 a0002c0006t0005g0102 a0002c0006t0005g0103	14	414	0.0338	-12	c.30 others(23): Show c.3000_*3011delGCGGTGGCTCAC	CPT1B	ENSG00000205560.13	transcript	ENST00000312108.12	protein_coding		2788		chr22	TogoVar
CPT1C_chr19_49686116_49718731	49703563	TCCTCCCT others(5): Show TCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	350	0.0029	-12	c.694 others(29): Show c.694-1123_694-1112delCCCTCCCTCCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT2_chr1_53191824_53219197	53192639	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp2 others(66): Show HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01943.hp2 HG01975.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02809.hp2 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18986.hp1 NA18997.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp1 NA19054.hp1 NA19055.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19076.hp1 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(33): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0005t0001g0006 a0001c0006t0001g0004 a0001c0006t0001g0072 a0002c0002t0001g0001 a0002c0002t0001g0036 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0003c0003t0001g0005 a0003c0003t0001g0033 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0085 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0090 a0004c0004t0001g0016 a0004c0004t0001g0081 a0004c0004t0001g0093 a0004c0004t0001g0102	69	386	0.1788	-12	c.-43 others(23): Show c.-4304_-4293delTGTGTGTGTGTG	CPT2	ENSG00000157184.7	transcript	ENST00000371486.4	protein_coding		4184		chr1	TogoVar
CPVL_chr7_28990235_29151537	29001025	AAGGAGGC others(5): Show AAGGAGGCAAATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(144): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp1 NA18986.hp2 NA19003.hp2 NA19009.hp1 NA19030.hp1 NA19054.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0004 a0001c0006 others(14): Show a0001c0001 a0001c0004 a0001c0006 a0001c0022 a0002c0002 a0002c0007 a0002c0023 a0003c0003 a0004c0005 a0004c0008 a0005c0009 a0006c0012 a0007c0024 a0009c0014 a0010c0017 a0011c0018 a0012c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0006t0002 a0001c0022t0002 a0002c0002t0001 a0002c0002t0002 a0002c0007t0002 a0002c0023t0002 a0003c0003t0001 a0004c0005t0001 a0004c0008t0001 a0005c0009t0001 a0006c0012t0002 a0007c0024t0001 a0009c0014t0001 a0010c0017t0001 a0011c0018t0002 a0012c0020t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0043 others(144): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0255 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0054 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0281 a0001c0001t0006g0254 a0001c0001t0007g0268 a0001c0004t0001g0111 a0001c0004t0001g0141 a0001c0004t0001g0170 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0002g0048 a0001c0004t0002g0126 a0001c0004t0002g0143 a0001c0004t0002g0148 a0001c0004t0008g0282 a0001c0006t0002g0185 a0001c0006t0002g0187 a0001c0006t0002g0190 a0001c0006t0002g0266 a0001c0022t0002g0277 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0021 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0051 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0104 a0002c0002t0001g0118 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0156 a0002c0002t0001g0173 a0002c0002t0001g0193 a0002c0002t0001g0201 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0230 a0002c0002t0001g0234 a0002c0002t0001g0238 a0002c0002t0001g0264 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0002g0024 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0056 a0002c0002t0002g0069 a0002c0002t0002g0110 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0265 a0002c0007t0002g0106 a0002c0007t0002g0112 a0002c0007t0002g0113 a0002c0007t0002g0114 a0002c0023t0002g0278 a0003c0003t0001g0031 a0003c0003t0001g0032 a0004c0005t0001g0002 a0004c0008t0001g0119 a0004c0008t0001g0130 a0004c0008t0001g0169 a0005c0009t0001g0007 a0006c0012t0002g0142 a0006c0012t0002g0241 a0007c0024t0001g0178 a0009c0014t0001g0006 a0010c0017t0001g0207 a0011c0018t0002g0181 a0012c0020t0001g0164	147	282	0.5213	-12	c.132 others(31): Show c.1321-5155_1321-5144delAATTTGCCTCCT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29003179	CACACACA others(5): Show CACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00558.hp2 others(49): Show HG00280.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04204.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp1 NA18964.hp1 NA18989.hp1 NA18994.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19066.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0004 a0001c0011 others(5): Show a0001c0001 a0001c0004 a0001c0011 a0001c0019 a0002c0002 a0003c0003 a0003c0021 a0008c0013	a0001c0001t0001 a0001c0004t0002 a0001c0011t0001 others(7): Show a0001c0001t0001 a0001c0004t0002 a0001c0011t0001 a0001c0019t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0005 a0003c0021t0001 a0008c0013t0001	a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0267 others(49): Show a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0004t0002g0157 a0001c0011t0001g0127 a0001c0011t0001g0128 a0001c0019t0001g0059 a0002c0002t0001g0248 a0003c0003t0001g0005 a0003c0003t0001g0020 a0003c0003t0001g0027 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0050 a0003c0003t0001g0061 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0068 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0077 a0003c0003t0001g0103 a0003c0003t0001g0137 a0003c0003t0001g0147 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0161 a0003c0003t0001g0163 a0003c0003t0001g0177 a0003c0003t0001g0198 a0003c0003t0001g0202 a0003c0003t0001g0211 a0003c0003t0001g0215 a0003c0003t0001g0219 a0003c0003t0001g0222 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0237 a0003c0003t0001g0250 a0003c0003t0001g0253 a0003c0003t0001g0256 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0262 a0003c0003t0001g0271 a0003c0003t0001g0276 a0003c0003t0003g0017 a0003c0003t0003g0105 a0003c0003t0005g0217 a0003c0021t0001g0057 a0008c0013t0001g0008	52	282	0.1844	-12	c.132 others(31): Show c.1321-7309_1321-7298delCTCTGTGTGTGT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29056944	CTTTTCTT others(5): Show CTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	282	0.0036	-12	c.113 others(31): Show c.1137+7105_1137+7116delAAAAAAAGAAAA	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	11/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29069770	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00735.hp1 others(19): Show HG00280.hp2 HG00408.hp1 HG00735.hp1 HG01106.hp2 HG01261.hp2 HG01884.hp2 HG01981.hp1 HG02056.hp1 HG02080.hp2 HG02258.hp1 HG02300.hp1 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp2 NA18948.hp2 NA18953.hp2 NA18964.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0002c0007t0002 a0003c0003t0001 a0003c0003t0005	a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0089 others(19): Show a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0089 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0216 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0004t0001g0111 a0002c0002t0001g0080 a0002c0002t0001g0118 a0002c0002t0001g0133 a0002c0002t0001g0205 a0002c0007t0002g0112 a0002c0007t0002g0113 a0002c0007t0002g0114 a0003c0003t0001g0038 a0003c0003t0001g0061 a0003c0003t0001g0077 a0003c0003t0001g0202 a0003c0003t0001g0222 a0003c0003t0005g0217	22	282	0.0780	-12	c.864 others(29): Show c.864+1991_864+2002delCACACACACACA	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	9/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29123618	AAAAAAAA others(5): Show AAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	282	0.0036	-12	c.-10 others(29): Show c.-10-2559_-10-2548delATTTTTTTTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29123620	AAAAAAAA others(5): Show AAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA20300.hp2 NA19085.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0152 a0002c0002t0001g0051 a0001c0001t0001g0152 a0002c0002t0001g0051	2	282	0.0071	-12	c.-10 others(29): Show c.-10-2561_-10-2550delATATTTTTTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29123624	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0163	1	282	0.0036	-12	c.-10 others(29): Show c.-10-2565_-10-2554delATATATATTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29123626	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	282	0.0036	-12	c.-10 others(29): Show c.-10-2567_-10-2556delATATATATATTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPXCR1_chrX_88742225_88759781	88752524	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 HG03471.hp1 HG02622.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	3	308	0.0097	-12	c.-8- others(25): Show c.-8-854_-8-843delTTTATTTATTTA	CPXCR1	ENSG00000147183.10	transcript	ENST00000276127.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
CPXCR1_chrX_88742225_88759781	88759476	TATGTACA others(5): Show TATGTACACATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	308	0.0033	-12	c.51 others(23): Show c.5157_*5168delATGTACACATAC	CPXCR1	ENSG00000147183.10	transcript	ENST00000276127.9	protein_coding		4696		chrX	TogoVar
CPXM2_chr10_123740639_123896807	123768376	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01891.hp2 HG02080.hp1 others(2): Show HG00673.hp2 HG01891.hp2 HG02080.hp1 HG02135.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0001t0001 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0114 a0001c0001t0001g0190 a0001c0001t0001g0219 others(2): Show a0001c0001t0001g0114 a0001c0001t0001g0190 a0001c0001t0001g0219 a0001c0002t0001g0286 a0001c0004t0002g0030	5	288	0.0174	-12	c.129 others(29): Show c.1299+138_1299+149delATTTATTTATTT	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	9/13			chr10	TogoVar

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