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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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
DOCK11_chrX_118490815_118691147	118568370	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0098 a0001c0007t0001g0098	1	211	0.0047	-38	c.103 others(55): Show c.1035+226_1035+263delATATATATATATATATATATATATATAT ATATATATAT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	10/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	127332997	CTGTTGCT others(31): Show CTGTTGCTAGACTCATTTTTCTGCAGGGATGGAGGAATG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp2 HG06807.hp2 others(1): Show HG03453.hp1 HG03471.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0033 others(1): Show a0001c0001 a0001c0004 a0001c0033 a0001c0037	a0001c0001t0002 a0001c0004t0002 a0001c0033t0007 others(1): Show a0001c0001t0002 a0001c0004t0002 a0001c0033t0007 a0001c0037t0002	a0001c0001t0002g0032 a0001c0004t0002g0135 a0001c0033t0007g0087 others(1): Show a0001c0001t0002g0032 a0001c0004t0002g0135 a0001c0033t0007g0087 a0001c0037t0002g0117	4	136	0.0294	-38	c.304 others(57): Show c.3045-5967_3045-5930delTGCTAGACTCATTTTTCTGCAGGGAT GGAGGAATGTGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	29/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127397226	AGCGACTC others(31): Show AGCGACTCCTATGTGATCTGAGCATGAGTTACACGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0102 a0001c0006t0001g0102	1	136	0.0074	-38	c.392 others(57): Show c.3928-5788_3928-5751delGACTCCTATGTGATCTGAGCATGAGT TACACGGGCGGC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51016789	AATATATA others(31): Show AATATATATGATATATGTTTATATATATCATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp2 HG02735.hp1 others(13): Show HG02056.hp2 HG02071.hp2 HG02735.hp1 HG04199.hp2 NA18942.hp1 NA18945.hp2 NA18957.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp2 NA18993.hp2 NA19000.hp2 NA19007.hp2 NA19060.hp1 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0038 others(13): Show a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0166 a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0011g0064	16	212	0.0755	-38	c.316 others(57): Show c.316-47652_316-47615delATGATATATGTTTATATATATCATAT ATAAATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK5_chr8_25179689_25420711	25216667	GTATAGAT others(31): Show GTATAGATGTATACAATATGTGTATACAATATGTATAGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG02965.hp2 HG03130.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0012 a0001c0015t0050 a0001c0015t0012 a0001c0015t0050	a0001c0015t0012g0178 a0001c0015t0050g0177 a0001c0015t0012g0178 a0001c0015t0050g0177	2	210	0.0095	-38	c.44- others(55): Show c.44-27005_44-26968delATAGATGTATACAATATGTGTATACAAT ATGTATAGAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216731	GTATAGAT others(31): Show GTATAGATGTATACAATATGTGTATACAATATGTATAGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0056 a0002c0056	a0002c0056t0060 a0002c0056t0060	a0002c0056t0060g0010 a0002c0056t0060g0010	1	210	0.0048	-38	c.44- others(55): Show c.44-26941_44-26904delATAGATGTATACAATATGTGTATACAAT ATGTATAGAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01517.hp1 HG02055.hp2 HG02258.hp2 others(7): Show HG01517.hp1 HG02055.hp2 HG02258.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03704.hp1 NA18947.hp2 NA18951.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0039 a0001c0001t0076 a0001c0001t0018 a0001c0001t0039 a0001c0001t0076	a0001c0001t0018g0125 a0001c0001t0018g0146 a0001c0001t0018g0147 others(6): Show a0001c0001t0018g0125 a0001c0001t0018g0146 a0001c0001t0018g0147 a0001c0001t0018g0165 a0001c0001t0018g0166 a0001c0001t0018g0289 a0001c0001t0039g0009 a0001c0001t0039g0032 a0001c0001t0076g0274	10	426	0.0235	-38	c.66 others(47): Show c.665_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	665		chr21	TogoVar
DPEP2NB_chr16_68008436_68020911	68020793	ATATATAC others(31): Show ATATATACATATATATATATACGTATATATATGTATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02280.hp2 others(2): Show HG01884.hp2 HG02257.hp2 HG02280.hp2 HG02723.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0010 a0001c0001t0001g0027	5	362	0.0138	-38	c.-50 others(49): Show c.-5061_-5024delCACATACATATATATACGTATATATATATATGTA TATA	DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding		4883		chr16	TogoVar
DPP10_chr2_114437641_115850780	114477859	ATGTATAT others(31): Show ATGTATATATGTACATATATGTGTATATATGTACATATG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0052 a0005c0007t0011g0052	1	56	0.0179	-38	c.60+ others(55): Show c.60+35083_60+35120delATATATGTACATATGTGTATATATGTAC ATATATGTGT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114497291	GTACATGT others(31): Show GTACATGTATACGTGTATACATGTACATGTATACGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp2 HG03139.hp2 others(2): Show HG01175.hp1 HG02280.hp2 HG03139.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0003c0003 others(1): Show a0001c0002 a0002c0001 a0003c0003 a0004c0005	a0001c0002t0002 a0002c0001t0001 a0003c0003t0001 others(1): Show a0001c0002t0002 a0002c0001t0001 a0003c0003t0001 a0004c0005t0012	a0001c0002t0002g0005 a0002c0001t0001g0020 a0002c0001t0001g0042 others(2): Show a0001c0002t0002g0005 a0002c0001t0001g0020 a0002c0001t0001g0042 a0003c0003t0001g0046 a0004c0005t0012g0031	5	56	0.0893	-38	c.60+ others(55): Show c.60+54462_60+54499delTACGTGTATACATGTACATGTATACGTG TATACATGTA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154195420	TGGCAGCC others(31): Show TGGCAGCCTGTTGGGTAAGAATGGAAACTGCCATTGGCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0011 a0001c0021t0011	a0001c0021t0011g0022 a0001c0021t0011g0022	1	38	0.0263	-38	c.243 others(59): Show c.243+142413_243+142450delGAATGGAAACTGCCATTGGCCGGC AGCCTGTTGGGTAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYD_chr1_97072743_97926034	97195634	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp2 HG03098.hp2 others(1): Show HG00735.hp2 HG02886.hp2 HG03098.hp2 NA18522.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0007 a0001c0001 a0002c0002 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0008c0007t0001	a0001c0001t0001g0046 a0001c0001t0002g0030 a0002c0002t0001g0011 others(1): Show a0001c0001t0001g0046 a0001c0001t0002g0030 a0002c0002t0001g0011 a0008c0007t0001g0021	4	52	0.0769	-38	c.244 others(57): Show c.2443-2424_2443-2387delTATATATATATATATATATATATATA TATATATATATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DRAM1_chr12_101872580_101928612	101873832	TCCCGAGT others(31): Show TCCCGAGTAGCTGGGATTACAGGGGCCCACCACTACACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	396	0.0025	-38	c.-39 others(49): Show c.-3957_-3920delCCCGAGTAGCTGGGATTACAGGGGCCCACCACTA CACC	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding		3747		chr12	TogoVar
DRD3_chr3_114122580_114184052	114156715	GTCTTTCT others(31): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp1 HG02258.hp1 others(7): Show HG01123.hp2 HG01255.hp1 HG02258.hp1 HG02300.hp2 HG03669.hp2 NA18951.hp1 NA18970.hp1 NA18983.hp2 NA19060.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0002c0001t0002	a0001c0002t0001g0248 a0001c0002t0001g0265 a0001c0002t0001g0278 others(7): Show a0001c0002t0001g0248 a0001c0002t0001g0265 a0001c0002t0001g0278 a0001c0002t0001g0297 a0001c0002t0001g0329 a0001c0002t0002g0264 a0001c0002t0003g0044 a0001c0002t0003g0266 a0001c0002t0004g0322 a0002c0001t0002g0163	10	360	0.0278	-38	c.383 others(55): Show c.383+3002_383+3039delAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DST_chr6_56452996_56959830	56895991	TGAGAGGG others(31): Show TGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0027 a0020c0022t0001g0027	1	84	0.0119	-38	c.417 others(55): Show c.417+4392_417+4429delCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTC	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	3/103			chr6	TogoVar
DUS2_chr16_68018284_68084320	68020793	ATATATAC others(31): Show ATATATACATATATATATATACGTATATATATGTATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02280.hp2 others(2): Show HG01884.hp2 HG02257.hp2 HG02280.hp2 HG02723.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0156 a0001c0001t0002g0157 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158	5	234	0.0214	-38	c.-26 others(49): Show c.-2656_-2619delTATATACATATATATATATACGTATATATATGTA TGTG	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding		2490		chr16	TogoVar
DUSP21_chrX_44839021_44849888	44840601	TCGGCCTC others(31): Show TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	1	285	0.0035	-38	c.-35 others(49): Show c.-3531_-3494delCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCAC	DUSP21	ENSG00000189037.8	transcript	ENST00000339042.6	protein_coding		3419		chrX	TogoVar
DUSP26_chr8_33586330_33605023	33587541	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	420	0.0024	-38	c.44 others(49): Show c.4434_*4471delAAGAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA GAAA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3788		chr8	TogoVar
DUSP7_chr3_52043919_52061571	52045855	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA19240.hp1 HG02257.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	384	0.0052	-38	c.49 others(49): Show c.4922_*4959delCACACACACACACACACACACACACACACACACA CACA	DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding		3063		chr3	TogoVar
DUT_chr15_48326429_48348373	48331051	TCGGGCGC others(31): Show TCGGGCGCGGTGTCTTGCCCACAGCTTGGGGAGCGGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(154): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18976.hp1 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0029 a0001c0001t0008g0002 a0006c0007t0001g0002	157	388	0.4046	-38	c.-46 others(47): Show c.-464_-427delCGGGCGCGGTGTCTTGCCCACAGCTTGGGGAGCGGC CC	DUT	ENSG00000128951.14	transcript	ENST00000331200.8	protein_coding		377		chr15	TogoVar
DUXA_chr19_57149021_57172485	57171955	AGCTGGGG others(31): Show AGCTGGGGTCCGGGGAGCGCGAGCGGGGGTCCGGGGGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02015.hp2 HG02004.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0047 a0001c0001t0002g0005 a0001c0001t0002g0047	2	446	0.0045	-38	c.-45 others(49): Show c.-4550_-4513delGCCCCCCGGACCCCCGCTCGCGCTCCCCGGACCC CAGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4471		chr19	TogoVar
DVL1_chr1_1330278_1354418	1344998	CGGAGGGA others(31): Show CGGAGGGAGACTCGGCCACCCAGCACCCTCTGACTCACT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	344	0.0029	-38	c.171 others(55): Show c.171-2278_171-2241delAGTGAGTCAGAGGGTGCTGGGTGGCCGA GTCTCCCTCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding	1/14			chr1	TogoVar
DYNC2I1_chr7_158851558_158951189	158869215	CCCCTCTG others(31): Show CCCCTCTGGGCCCGTGGCTGTGGCATCTGCTGTGAGGGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01433.hp1 HG01934.hp1 others(3): Show HG00140.hp1 HG01433.hp1 HG01934.hp1 HG01981.hp1 HG02148.hp2 HG03704.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0024 a0001c0001 a0017c0024	a0001c0001t0001 a0017c0024t0001 a0001c0001t0001 a0017c0024t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(3): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0017c0024t0001g0271	6	274	0.0219	-38	c.16- others(51): Show c.16-591_16-554delCCGTGGCTGTGGCATCTGCTGTGAGGGACCCT CTGGGC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158915052	CGCTAGTT others(31): Show CGCTAGTTGAGATTAAGGATGATTGTGAAACCTCGACAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG01175.hp2 others(14): Show HG00408.hp1 HG00733.hp1 HG01175.hp2 HG01255.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG02055.hp2 HG03209.hp2 HG03491.hp2 HG03834.hp2 HG04228.hp2 NA18957.hp2 NA18964.hp2 NA19060.hp2 NA19064.hp1 NA20805.hp1	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0003 a0003c0027 a0005c0010 others(1): Show a0003c0003 a0003c0027 a0005c0010 a0011c0029	a0003c0003t0004 a0003c0003t0007 a0003c0027t0022 others(2): Show a0003c0003t0004 a0003c0003t0007 a0003c0027t0022 a0005c0010t0004 a0011c0029t0004	a0003c0003t0004g0242 a0003c0003t0004g0244 a0003c0003t0004g0245 others(14): Show a0003c0003t0004g0242 a0003c0003t0004g0244 a0003c0003t0004g0245 a0003c0003t0004g0246 a0003c0003t0004g0252 a0003c0003t0004g0257 a0003c0003t0004g0262 a0003c0003t0004g0265 a0003c0003t0007g0240 a0003c0003t0007g0241 a0003c0003t0007g0243 a0003c0003t0007g0248 a0003c0003t0007g0260 a0003c0027t0022g0263 a0005c0010t0004g0247 a0005c0010t0004g0251 a0011c0029t0004g0250	17	274	0.0620	-38	c.179 others(55): Show c.1791+735_1791+772delAGTTGAGATTAAGGATGATTGTGAAACC TCGACATGCT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158915352	CGCTGGTT others(31): Show CGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACAT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19002.hp1 NA18945.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0062 a0002c0002t0001g0065	2	274	0.0073	-38	c.179 others(57): Show c.1791+1069_1791+1106delTGCTGGTTGACATTAAGGATGATTGT GAAACGTCGACA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNLT1_chr6_158631474_158649743	158641707	GATTACAG others(31): Show GATTACAGGTGCCCTCCACCACACCCGGCTAATTTTCGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	396	0.0025	-38	c.28- others(51): Show c.28-385_28-348delACGAAAATTAGCCGGGTGTGGTGGAGGGCACC TGTAAT	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding	1/4			chr6	TogoVar
DZIP1L_chr3_138056990_138120608	138114352	TACAACTT others(31): Show TACAACTTCATGAGGTATTTTATCAAGTTAGATAGTATC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	312	0.0032	-38	c.-82 others(53): Show c.-82+938_-82+975delGATACTATCTAACTTGATAAAATACCTCAT GAAGTTGT	DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding	1/15			chr3	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01515.hp2 HG00735.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0091 a0001c0001t0027 a0001c0002t0091	a0001c0001t0027g0169 a0001c0002t0091g0182 a0001c0001t0027g0169 a0001c0002t0091g0182	2	196	0.0102	-38	c.555 others(57): Show c.555-26761_555-26724delTATATATATATATATATATATATATA TATATATATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
ECPAS_chr9_111355685_111489383	111462318	ACAAAAAG others(31): Show ACAAAAAGCATCTATGTAAAATCTACAGCAAATATATCT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	354	0.0028	-38	c.22+ others(55): Show c.22+10541_22+10578delAGATATATTTGCTGTAGATTTTACATAG ATGCTTTTTG	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
EDA_chrX_69611113_70044472	69863508	TATATATG others(31): Show TATATATGTATATATATGTGTGTGTATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(91): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18960.hp1 NA18965.hp1 NA18986.hp1 NA18993.hp2 NA18998.hp1 NA19004.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp1 NA19072.hp1 NA19082.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0039 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0076 a0001c0001t0002g0125 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0202 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0185 a0001c0001t0003g0195 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0004g0123 a0001c0001t0004g0128 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0199 a0001c0001t0005g0120 a0001c0001t0005g0206 a0001c0001t0006g0191 a0001c0001t0007g0052 a0001c0001t0008g0184 a0001c0001t0009g0216 a0001c0001t0010g0126 a0001c0001t0010g0127 a0001c0001t0011g0134 a0001c0001t0012g0108 a0001c0001t0013g0138 a0001c0001t0015g0119 a0001c0001t0019g0161 a0003c0003t0001g0109	94	226	0.4159	-38	c.397 others(57): Show c.397-93496_397-93459delGTATATATATATATACATATATGTAT ATATATGTGTGT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDIL3_chr5_83935554_84389880	84141929	ATATATAT others(31): Show ATATATATATATATATATACATAGATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp1 HG02129.hp1 HG01433.hp2 HG01993.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0002g0027 a0001c0001t0003g0133 a0001c0001t0016g0135 a0001c0001t0002g0027 a0001c0001t0003g0133 a0001c0001t0016g0135	3	158	0.0190	-38	c.356 others(55): Show c.356-4613_356-4576delGATAGATAGATAGATCTATGTATATATA TATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EEF1B2_chr2_206154895_206167928	206165213	CGCTCCAT others(31): Show CGCTCCATCAAAGCAGTGTTAACAGGTTCTTAGGTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	360	0.0028	-38	c.23 others(49): Show c.2331_*2368delGCTCCATCAAAGCAGTGTTAACAGGTTCTTAGGT CTTT	EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding		2286		chr2	TogoVar
EFCAB6_chr22_43523778_43817305	43784544	TATATGTA others(31): Show TATATGTATATATACACATATATATGTGTACATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG03139.hp2 others(1): Show HG02109.hp1 HG02572.hp1 HG03139.hp2 NA18906.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0014 a0002c0002 a0007c0014	a0002c0002t0001 a0007c0014t0002 a0002c0002t0001 a0007c0014t0002	a0002c0002t0001g0122 a0007c0014t0002g0016 a0007c0014t0002g0017 others(1): Show a0002c0002t0001g0122 a0007c0014t0002g0016 a0007c0014t0002g0017 a0007c0014t0002g0018	4	290	0.0138	-38	c.-7- others(53): Show c.-7-2257_-7-2220delGTGTATATGTACACATATATATGTGTATAT ATACATAT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32939104	CCTTTCTT others(31): Show CCTTTCTTTCTCTCTTTCTTTCTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0002 a0014c0014t0002	a0014c0014t0002g0014 a0014c0014t0002g0014	1	284	0.0035	-38	c.279 others(57): Show c.2791-4521_2791-4484delCTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHC2_chrX_44142872_44348672	44209019	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19079.hp1 NA18953.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0220 a0001c0001t0003g0154 a0001c0001t0003g0220	2	221	0.0091	-38	c.175 others(59): Show c.1751+20592_1751+20629delCACACACACACACACACACACACA CACACACACACACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFNA5_chr5_107371894_107675937	107660261	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19010.hp1 NA18965.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0023 a0001c0001t0010 a0001c0001t0023	a0001c0001t0010g0154 a0001c0001t0023g0155 a0001c0001t0010g0154 a0001c0001t0023g0155	2	190	0.0105	-38	c.125 others(57): Show c.125+10190_125+10227delATATATATATATATATATATATATAT ATATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EGFR_chr7_55014017_55216628	55166833	CAGTGTTG others(31): Show CAGTGTTGGTGGTGAGGAGGTGGGAGTCACAATGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp2 others(65): Show HG00280.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02083.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0024 a0002c0002 a0002c0006 others(10): Show a0001c0024 a0002c0002 a0002c0006 a0002c0008 a0002c0009 a0002c0017 a0002c0018 a0002c0026 a0002c0027 a0002c0028 a0002c0036 a0002c0037 a0003c0025	a0001c0024t0001 a0002c0002t0001 a0002c0002t0004 others(35): Show a0001c0024t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0017 a0002c0002t0021 a0002c0002t0030 a0002c0002t0033 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0049 a0002c0002t0050 a0002c0002t0059 a0002c0006t0002 a0002c0006t0005 a0002c0006t0009 a0002c0006t0010 a0002c0008t0002 a0002c0008t0006 a0002c0008t0009 a0002c0008t0037 a0002c0008t0038 a0002c0008t0044 a0002c0008t0047 a0002c0008t0052 a0002c0008t0062 a0002c0009t0002 a0002c0009t0007 a0002c0009t0008 a0002c0017t0007 a0002c0017t0014 a0002c0018t0007 a0002c0026t0003 a0002c0027t0004 a0002c0028t0002 a0002c0036t0002 a0002c0037t0002 a0003c0025t0005	a0001c0024t0001g0083 a0002c0002t0001g0033 a0002c0002t0001g0036 others(65): Show a0001c0024t0001g0083 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0058 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0128 a0002c0002t0001g0133 a0002c0002t0001g0197 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0004g0056 a0002c0002t0004g0113 a0002c0002t0004g0137 a0002c0002t0017g0029 a0002c0002t0017g0210 a0002c0002t0021g0222 a0002c0002t0021g0236 a0002c0002t0030g0234 a0002c0002t0033g0159 a0002c0002t0041g0084 a0002c0002t0042g0053 a0002c0002t0043g0043 a0002c0002t0049g0030 a0002c0002t0050g0199 a0002c0002t0059g0072 a0002c0006t0002g0045 a0002c0006t0005g0085 a0002c0006t0005g0155 a0002c0006t0005g0156 a0002c0006t0005g0157 a0002c0006t0005g0198 a0002c0006t0005g0200 a0002c0006t0009g0086 a0002c0006t0009g0091 a0002c0006t0009g0094 a0002c0006t0009g0131 a0002c0006t0010g0219 a0002c0008t0002g0101 a0002c0008t0006g0249 a0002c0008t0009g0098 a0002c0008t0037g0060 a0002c0008t0038g0054 a0002c0008t0044g0031 a0002c0008t0047g0117 a0002c0008t0052g0213 a0002c0008t0062g0173 a0002c0009t0002g0057 a0002c0009t0002g0062 a0002c0009t0002g0064 a0002c0009t0002g0127 a0002c0009t0002g0188 a0002c0009t0002g0192 a0002c0009t0007g0109 a0002c0009t0008g0125 a0002c0017t0007g0190 a0002c0017t0014g0167 a0002c0017t0014g0169 a0002c0018t0007g0110 a0002c0018t0007g0134 a0002c0026t0003g0116 a0002c0027t0004g0148 a0002c0028t0002g0025 a0002c0036t0002g0063 a0002c0037t0002g0035 a0003c0025t0005g0044	68	250	0.2720	-38	c.188 others(57): Show c.1880+1401_1880+1438delTTGGTGGTGAGGAGGTGGGAGTCACA ATGGTGGTAGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHD2_chr19_47708422_47748134	47740207	AATTTTTA others(31): Show AATTTTTAAAACTAGTTGGGCGTAGTGGCGCACACCTAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0024 a0001c0002t0006g0024	1	398	0.0025	-38	c.108 others(55): Show c.1081-672_1081-635delTTTTTAAAACTAGTTGGGCGTAGTGGCG CACACCTATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137623492	GCAGCCTC others(31): Show GCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCT	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	170	0.0059	-38	c.21+ others(53): Show c.21+4452_21+4489delGCCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818765	TGTAGAGA others(31): Show TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0151 a0001c0004t0001g0151	1	170	0.0059	-38	c.354 others(55): Show c.3540+643_3540+680delTAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818933	GAGGGGCG others(31): Show GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	170	0.0059	-38	c.354 others(55): Show c.3540+831_3540+868delCTTAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819399	GTGTACCG others(31): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	170	0.0059	-38	c.354 others(57): Show c.3540+1299_3540+1336delATGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819465	GAGGGGCG others(31): Show GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03831.hp2 NA18943.hp2 others(2): Show HG01934.hp2 HG03831.hp2 NA18943.hp2 NA18982.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0098 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0002g0079 a0001c0001t0002g0123	5	170	0.0294	-38	c.354 others(57): Show c.3540+1365_3540+1402delTAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG01169.hp1 others(1): Show HG01074.hp2 HG01168.hp1 HG01169.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0002t0001g0002 a0001c0001t0001g0008 a0001c0002t0001g0002	4	436	0.0092	-38	c.-10 others(48): Show c.-1004_-967delTATATATATATATATATATATATATATATATATAT ATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571872	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0008 a0001c0004t0001g0007 a0001c0001t0001g0008 a0001c0004t0001g0007	2	436	0.0046	-38	c.-96 others(47): Show c.-969_-932delATATATATATATATATATATATATATATATATATAT AA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		952		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571874	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(22): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00609.hp1 HG00733.hp1 HG01358.hp2 HG01361.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02165.hp2 NA18941.hp2 NA18944.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18982.hp2 NA19002.hp1 NA19056.hp1 NA19085.hp2 NA19090.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0002c0006t0001 a0001c0001t0001 a0001c0001t0003 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0043 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0003g0001 a0002c0006t0001g0001	25	436	0.0573	-38	c.-96 others(47): Show c.-967_-930delATATATATATATATATATATATATATATATATATAA AA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		950		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80146992	CGCCGCTG others(31): Show CGCCGCTGCCGACCTCGCTGCCGCTGCCGACCTCGCTGT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG02647.hp1 others(4): Show HG01243.hp1 HG02622.hp2 HG02647.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0021 a0001c0001t0063 a0001c0001t0020 a0001c0001t0021 a0001c0001t0063	a0001c0001t0020g0061 a0001c0001t0020g0192 a0001c0001t0021g0028 others(1): Show a0001c0001t0020g0061 a0001c0001t0020g0192 a0001c0001t0021g0028 a0001c0001t0063g0191	7	420	0.0167	-38	c.-69 others(45): Show c.-69_-32delACAGCGAGGTCGGCAGCGGCAGCGAGGTCGGCAGCGGC	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	32		chr17	TogoVar
EIF5AL1_chr10_79507533_79521440	79511631	CTCGTTCA others(31): Show CTCGTTCACGTTCTTTCATTCTCAGCTTCCTGAGTCGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0060 a0004c0004t0060	a0004c0004t0060g0000 a0004c0004t0060g0000	1	430	0.0023	-38	c.-10 others(48): Show c.-1018_-981delTCGTTCACGTTCTTTCATTCTCAGCTTCCTGAGTC GAG	EIF5AL1	ENSG00000253626.4	transcript	ENST00000520547.4	protein_coding		901		chr10	TogoVar
EIPR1_chr2_3183970_3382818	3285846	GACTGTCT others(31): Show GACTGTCTCCGGGACCCTCGCACGGAGCAGAAGTCACCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp1 others(73): Show HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp1 HG01346.hp1 HG01515.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02109.hp1 HG02273.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0006t0003	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 others(73): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0096 a0001c0001t0002g0208 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0091 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0103 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0006t0003g0203	76	250	0.3040	-38	c.260 others(57): Show c.260-28429_260-28392delTGGTGACTTCTGCTCCGTGCGAGGGT CCCGGAGACAGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3285868	CGGAGCAG others(31): Show CGGAGCAGAAGTCACCAACTGTCTCCGGGACCCTCGCAT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01884.hp1 HG02015.hp1 others(9): Show HG01516.hp1 HG01884.hp1 HG02015.hp1 HG02258.hp2 HG02559.hp2 HG02970.hp2 HG03098.hp2 HG03942.hp1 NA18906.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 others(9): Show a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124 a0001c0002t0002g0142 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094	12	250	0.0480	-38	c.260 others(57): Show c.260-28451_260-28414delATGCGAGGGTCCCGGAGACAGTTGGT GACTTCTGCTCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar

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