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
ENPP6_chr4_184083706_184222873	184131259	T T	TTTCTCTT others(17): Show TTTCTCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	320	0.0031	24	c.422 others(41): Show c.422-6988_422-6987insGAAGGAAGGAAGGAAGGAAGAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184134131	G G	GATTTATT others(17): Show GATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0091 a0002c0001t0001g0091	1	320	0.0031	24	c.422 others(41): Show c.422-9883_422-9860dupAAATAAATAAATAAATAAATAAAT	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184162547	A A	AGAAGGAG others(17): Show AGAAGGAGGGAGGGAAGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp1 HG02523.hp2 others(12): Show HG01433.hp2 HG02109.hp1 HG02523.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp2 HG03486.hp1 HG04184.hp1 HG04199.hp2 NA18952.hp2 NA18957.hp1 NA18969.hp2 NA18977.hp2 NA18992.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 others(4): Show a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006	a0001c0002t0002g0084 a0001c0002t0002g0260 a0001c0003t0003g0108 others(12): Show a0001c0002t0002g0084 a0001c0002t0002g0260 a0001c0003t0003g0108 a0001c0003t0004g0063 a0001c0003t0007g0064 a0001c0003t0007g0065 a0002c0001t0001g0011 a0002c0001t0001g0020 a0002c0001t0001g0095 a0002c0001t0001g0106 a0002c0001t0001g0109 a0002c0001t0002g0096 a0002c0001t0002g0141 a0002c0001t0006g0066 a0002c0001t0006g0080	15	320	0.0469	24	c.242 others(41): Show c.242-8815_242-8814insCTTCCCTCCTTCCCTCCCTCCTTC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79732123	T T	TATATATA others(17): Show TATATATATATATACATATATACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0135 a0003c0005t0001g0135	1	430	0.0023	24	c.253 others(39): Show c.253+739_253+740insATATACATATATACACATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39829790	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19002.hp2 NA19089.hp1 NA18998.hp2 NA19002.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167	3	218	0.0138	24	c.711 others(41): Show c.711+6026_711+6049dupTATTTATTTATTTATTTATTTATT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	4/6			chr22	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02486.hp2 HG04115.hp2 HG01099.hp2 HG02486.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0146 a0001c0003t0001g0004 a0001c0003t0001g0146	3	412	0.0073	24	c.57 others(35): Show c.5778_*5801dupTTTTTTTTTTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTREP1_chr9_69320215_69397456	69367750	T T	TAAATATA others(17): Show TAAATATATATATACACATATATAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01496.hp2 HG01884.hp2 others(14): Show HG01175.hp1 HG01496.hp2 HG01884.hp2 HG02258.hp2 HG02280.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0004 a0001c0001 a0002c0002 a0007c0004	a0001c0001t0001 a0002c0002t0001 a0007c0004t0001 a0001c0001t0001 a0002c0002t0001 a0007c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0190 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0002c0002t0001g0003 a0002c0002t0001g0215 a0002c0002t0001g0223 a0002c0002t0001g0224 a0007c0004t0001g0219	17	342	0.0497	24	c.472 others(41): Show c.472-3726_472-3725insAAAATATATATATACACATATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29259811	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0006 a0005c0016t0006	a0005c0016t0006g0032 a0005c0016t0006g0032	1	125	0.0080	24	c.277 others(41): Show c.277-7334_277-7333insATATATATATATATATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29402251	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	125	0.0080	24	c.220 others(43): Show c.220-20421_220-20420insATATATATATATATATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252690	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG03688.hp1 others(2): Show HG01070.hp1 HG01071.hp1 HG03688.hp1 NA19057.hp1 NA19062.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0164 a0001c0001t0001g0165 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0164 a0001c0001t0001g0165 a0003c0002t0001g0163	5	395	0.0127	24	c.622 others(39): Show c.622-786_622-785insTATATATATATATATATATATACA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	395	0.0025	24	c.622 others(39): Show c.622-818_622-817insAAAAAATATATATATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENY2_chr8_109329347_109350954	109349396	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02257.hp1 HG02257.hp2 others(6): Show HG01192.hp1 HG02257.hp1 HG02257.hp2 HG02630.hp1 HG02723.hp1 HG02738.hp2 HG03225.hp2 HG03239.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0080 others(6): Show a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0005g0057 a0001c0001t0006g0030	9	428	0.0210	24	c.59 others(35): Show c.5915_*5916insATATATATATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
EOGT_chr3_68970225_69018684	68976641	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0295 a0001c0002t0053g0295	1	444	0.0023	24	c.95 others(33): Show c.953_*976dupACACACACACACACACACACACAC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	18/18	976		chr3	TogoVar
EOGT_chr3_68970225_69018684	69016256	G G	GGTTTGTG others(17): Show GGTTTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	444	0.0023	24	c.-30 others(35): Show c.-3039_-3038insACACACACACACACACACACAAAC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		2573		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711284	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	400	0.0025	24	c.57 others(35): Show c.5785_*5786insTATATATATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4668		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0024 a0002c0003t0003g0024	1	400	0.0025	24	c.57 others(35): Show c.5753_*5754insAAAAAATATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0133 a0002c0003t0001g0133	1	300	0.0033	24	c.314 others(41): Show c.3143-596_3143-595insTTTTTTTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132073459	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp2 HG02647.hp1 HG00438.hp2 HG01934.hp2 HG02647.hp1	a0001 a0016 a0001 a0016	a0001c0003 a0001c0021 a0016c0067 a0001c0003 a0001c0021 a0016c0067	a0001c0003t0002 a0001c0021t0002 a0016c0067t0001 a0001c0003t0002 a0001c0021t0002 a0016c0067t0001	a0001c0003t0002g0002 a0001c0021t0002g0047 a0016c0067t0001g0195 a0001c0003t0002g0002 a0001c0021t0002g0047 a0016c0067t0001g0195	3	208	0.0144	24	c.902 others(43): Show c.9022-3043_9022-3042insTTTTTTTTTTTTTTTTTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EPAS1_chr2_46292407_46391697	46363017	G G	GTGGTGGT others(17): Show GTGGTGGTGGTGGTGGTGGTGATGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0137 a0003c0004t0021g0137	1	326	0.0031	24	c.779 others(41): Show c.779+1929_779+1930insGTGGTGGTGGTGGTGGTGATGATG	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36204471	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA21309.hp1 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0044 a0001c0004t0009g0046 a0001c0004t0009g0044 a0001c0004t0009g0046	2	236	0.0085	24	c.166 others(43): Show c.1669-5014_1669-4991dupTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36232816	C C	CCTCTCTC others(17): Show CCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0087 a0001c0002t0010g0087	1	236	0.0042	24	c.34 others(35): Show c.3476_*3477insCTCTCTCTCTCTCTCTCTCTCTCT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding		18		chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	356	0.0028	24	c.705 others(41): Show c.705+1041_705+1064dupAAAAAAAAAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0354 a0001c0001t0003g0354	1	356	0.0028	24	c.-14 others(43): Show c.-14-16462_-14-16439dupTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	228	0.0044	24	c.100 others(41): Show c.100-7039_100-7016dupTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112408675	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18963.hp2 HG00438.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0042 a0001c0001t0001 a0001c0002t0042	a0001c0001t0001g0195 a0001c0002t0042g0194 a0001c0001t0001g0195 a0001c0002t0042g0194	2	228	0.0088	24	c.99+ others(41): Show c.99+10242_99+10265dupTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0209 a0001c0002t0012g0209	1	318	0.0031	24	c.307 others(41): Show c.307-8825_307-8802dupTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120098156	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG01433.hp1 others(2): Show HG00408.hp2 HG00423.hp1 HG01433.hp1 HG01978.hp1 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0224 a0002c0002t0001g0248 others(2): Show a0002c0002t0001g0172 a0002c0002t0001g0224 a0002c0002t0001g0248 a0002c0002t0001g0257 a0002c0002t0001g0266	5	278	0.0180	24	c.117 others(43): Show c.1179-2078_1179-2055dupGTGTGTGTGTGTGTGTGTGTGTGT	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L5_chr2_120008077_120184119	120128256	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02922.hp1 others(2): Show HG02486.hp1 HG02647.hp1 HG02922.hp1 HG03139.hp1 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0006 a0003c0003t0006 a0001c0001t0005 a0001c0001t0006 a0003c0003t0006	a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 others(2): Show a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0006g0127 a0003c0003t0006g0125	5	278	0.0180	24	c.150 others(41): Show c.1501+417_1501+440dupCACACACACACACACACACACACA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28921938	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG03225.hp1 others(8): Show HG02109.hp2 HG02572.hp1 HG03225.hp1 HG03831.hp1 HG03927.hp1 NA18941.hp1 NA18946.hp2 NA18948.hp2 NA18971.hp2 NA19012.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0001c0004t0009	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(8): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0095 a0001c0001t0033g0140 a0001c0004t0009g0141	11	312	0.0353	24	c.-8+ others(39): Show c.-8+7171_-8+7194dupTATATATATATATATATATATATA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28921961	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01433.hp2 HG01891.hp2 others(17): Show HG00423.hp2 HG01433.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp1 HG03041.hp2 HG04115.hp1 NA18522.hp1 NA18950.hp1 NA18955.hp2 NA18962.hp2 NA18969.hp2 NA18973.hp2 NA19005.hp2 NA19057.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0002 a0001c0001t0010 a0001c0001t0023 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0023 a0001c0001t0025 a0001c0003t0002 a0001c0008t0002	a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0115 others(17): Show a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0010g0163 a0001c0001t0023g0165 a0001c0001t0025g0114 a0001c0003t0002g0164 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0002g0219 a0001c0003t0002g0220 a0001c0008t0002g0107	20	312	0.0641	24	c.-8+ others(39): Show c.-8+7194_-8+7195insTATATATATATATATATATATACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp2 HG01346.hp2 others(5): Show HG00621.hp2 HG01074.hp2 HG01346.hp2 HG01358.hp1 HG02145.hp2 HG02698.hp2 NA18941.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0014 a0001c0001 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0083 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0002g0237 a0001c0013t0001g0062 a0001c0014t0001g0018	8	312	0.0256	24	c.-8+ others(41): Show c.-8+20677_-8+20700dupACACACACACACACACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(17): Show ACACACACACACACACACACCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	312	0.0032	24	c.-8+ others(41): Show c.-8+20700_-8+20701insACACACACACACACACACCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(17): Show ACACACACACACACACACCCCCCCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	312	0.0032	24	c.-8+ others(41): Show c.-8+20700_-8+20701insACACACACACACACACCCCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28990296	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01070.hp1 others(20): Show HG00438.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01981.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02976.hp2 HG03041.hp1 HG03225.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03834.hp2 NA18982.hp1 NA18995.hp2 NA19011.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0026 a0001c0001t0029 a0001c0004t0009	a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0240 others(20): Show a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0252 a0001c0001t0005g0256 a0001c0001t0013g0272 a0001c0001t0026g0234 a0001c0001t0029g0255 a0001c0004t0009g0128 a0001c0004t0009g0134 a0001c0004t0009g0141	23	312	0.0737	24	c.468 others(41): Show c.468+2408_468+2431dupTTCCTTCCTTCCTTCCTTCCTTCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28990333	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	312	0.0032	24	c.468 others(41): Show c.468+2431_468+2432insTTCCTTCCTTCCTTCCTTCCCTCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPC1_chr10_32262751_32352158	32290483	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0218 a0001c0004t0006g0218	1	318	0.0031	24	c.975 others(39): Show c.975+656_975+679dupTTTTTTTTTTTTTTTTTTTTTTTT	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	6/13			chr10	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	308	0.0033	24	c.172 others(43): Show c.1720+3236_1720+3237insATATATATATATATATATATATAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01928.hp2 HG02055.hp1 others(8): Show HG00621.hp1 HG01928.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02723.hp2 HG03486.hp2 HG03669.hp1 NA18985.hp2 NA19062.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0002c0003t0008	a0001c0001t0001g0029 a0001c0001t0001g0138 a0001c0001t0002g0189 others(8): Show a0001c0001t0001g0029 a0001c0001t0001g0138 a0001c0001t0002g0189 a0001c0001t0002g0218 a0001c0001t0004g0182 a0001c0001t0012g0127 a0001c0002t0002g0083 a0001c0002t0002g0178 a0001c0002t0003g0171 a0001c0002t0009g0082 a0002c0003t0008g0134	11	448	0.0246	24	c.270 others(43): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA10_chr1_37710976_37770120	37770010	T T	TACACACA others(17): Show TACACACACACACATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA19005.hp1 HG03516.hp1 NA19005.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0008c0014 a0003c0004 a0008c0014	a0003c0004t0005 a0008c0014t0002 a0003c0004t0005 a0008c0014t0002	a0003c0004t0005g0322 a0008c0014t0002g0028 a0003c0004t0005g0322 a0008c0014t0002g0028	2	382	0.0052	24	c.-49 others(35): Show c.-4945_-4944insGTGTGTGTGTATGTGTGTGTGTGT	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding		4891		chr1	TogoVar
EPHA3_chr3_89102621_89487134	89208399	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01081.hp1 others(4): Show HG00438.hp1 HG00544.hp1 HG01081.hp1 HG01123.hp2 HG01358.hp2 HG02572.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0008t0001 a0002c0002t0008 others(1): Show a0001c0001t0001 a0001c0008t0001 a0002c0002t0008 a0002c0003t0003	a0001c0001t0001g0079 a0001c0008t0001g0022 a0001c0008t0001g0030 others(4): Show a0001c0001t0001g0079 a0001c0008t0001g0022 a0001c0008t0001g0030 a0002c0002t0008g0040 a0002c0003t0003g0018 a0002c0003t0003g0023 a0002c0003t0003g0032	7	200	0.0350	24	c.154 others(41): Show c.154-1457_154-1434dupGAAGGAAGGAAGGAAGGAAGGAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03710.hp1 HG03491.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0111 a0001c0001t0001g0112	2	200	0.0100	24	c.154 others(41): Show c.154-1434_154-1433insGAAGGAAGAAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19010.hp2 HG02818.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0042 a0001c0001t0001g0058	2	200	0.0100	24	c.154 others(41): Show c.154-1434_154-1433insGAAGGAAGGAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02622.hp1 HG02922.hp2 others(4): Show HG01258.hp1 HG02622.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0011	a0001c0001t0001 a0002c0002t0008 a0002c0005t0005 others(1): Show a0001c0001t0001 a0002c0002t0008 a0002c0005t0005 a0002c0011t0003	a0001c0001t0001g0051 a0001c0001t0001g0131 a0001c0001t0001g0157 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0131 a0001c0001t0001g0157 a0002c0002t0008g0039 a0002c0005t0005g0071 a0002c0005t0005g0085 a0002c0011t0003g0029	7	200	0.0350	24	c.154 others(41): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02300.hp1 HG02647.hp1 others(2): Show HG01952.hp2 HG02300.hp1 HG02647.hp1 NA18981.hp1 NA18982.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0004 a0002c0002 a0002c0003 a0003c0004	a0002c0002t0002 a0002c0003t0003 a0003c0004t0002 a0002c0002t0002 a0002c0003t0003 a0003c0004t0002	a0002c0002t0002g0069 a0002c0002t0002g0072 a0002c0003t0003g0021 others(2): Show a0002c0002t0002g0069 a0002c0002t0002g0072 a0002c0003t0003g0021 a0002c0003t0003g0033 a0003c0004t0002g0025	5	200	0.0250	24	c.154 others(41): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0147 a0002c0006t0002g0147	1	200	0.0050	24	c.814 others(41): Show c.814+9182_814+9183insTTTTTTTTTTTTTTTTTTTTTTTT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221447821	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp1 HG02145.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0245 a0001c0001t0004g0235 a0001c0001t0001g0245 a0001c0001t0004g0235	2	294	0.0068	24	c.171 others(43): Show c.1716-1664_1716-1641dupTAAATAAATAAATAAATAAATAAA	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	8/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566951	A A	AGAGGAGG others(17): Show AGAGGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0056 a0001c0003t0003g0056	1	294	0.0034	24	c.159 others(41): Show c.159+1766_159+1767insCTCTTCCTCTTCCTCTTCCTCCTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAAG others(17): Show GGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG01074.hp2 others(8): Show HG00558.hp2 HG00642.hp1 HG01074.hp2 HG01106.hp2 HG01257.hp2 HG01433.hp2 HG01978.hp1 HG01981.hp2 HG04115.hp2 NA18952.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 others(8): Show a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0004g0194 a0001c0001t0007g0201 a0001c0002t0001g0195	11	294	0.0374	24	c.159 others(41): Show c.159+1725_159+1748dupTTCTTCTTCTTCTTCTTCTTCTTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAGG others(17): Show GGAAGAGGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0040 a0001c0005t0014g0040	1	294	0.0034	24	c.159 others(41): Show c.159+1748_159+1749insTTCTTCTTCTTCTTCTTCCTCTTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAGG others(17): Show GGAAGAGGAAGAAGAGGAATAAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0118 a0001c0006t0003g0118	1	294	0.0034	24	c.159 others(41): Show c.159+1748_159+1749insTTCTTATTCCTCTTCTTCCTCTTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar

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