Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
DOCK8_chr9_209865_470255	400849	C C	CATCGCCC others(44): Show CATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCA AT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0005 a0001c0056t0005	a0001c0056t0005g0086 a0001c0056t0005g0086	1	256	0.0039	51	c.323 others(70): Show c.3234+1593_3234+1594insGCCCTGCCCACCTCTAGCAATATTAT CACCTTTCCTATCACCTCCAATATC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPCD_chr10_101583321_101614662	101607179	G G	GGGAAGAT others(44): Show GGGAAGATGTTAACACTTCCTAACAAGTCTTTGTGTTCATCTAATCTCTG CT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	342	0.0029	51	c.405 others(68): Show c.405-1654_405-1604dupGAAGATGTTAACACTTCCTAACAAGTCT TTGTGTTCATCTAATCTCTGCTG	DPCD	ENSG00000166171.13	transcript	ENST00000370151.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619586	G G	GCCCCCCC others(44): Show GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	250	0.0040	51	c.-10 others(70): Show c.-107+5867_-107+5868insCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPP6_chr7_154047398_154899285	154749764	T T	TTTACTGT others(44): Show TTTACTGTGAGAGTGTGAGGAAGCATAGGACGGGAAAGAGAGGGATGGGG CA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0023 a0002c0022t0023	a0002c0022t0023g0027 a0002c0022t0023g0027	1	38	0.0263	51	c.884 others(70): Show c.884-19647_884-19646insTGAGAGTGTGAGGAAGCATAGGACGG GAAAGAGAGGGATGGGGCATTACTG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP9_chr19_4670227_4728842	4670512	T T	TGCCGAGG others(44): Show TGCCGAGGGGGCGGGGCCGCCGAGGGGGCGGGGCCGCCGAGGGGGCGGGG CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	314	0.0032	51	c.60 others(62): Show c.6051_*6052insGGCCCCGCCCCCTCGGCGGCCCCGCCCCCTCGGC GGCCCCGCCCCCTCGGC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		4714		chr19	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAAAAT others(44): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATGC GC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	322	0.0031	51	c.342 others(68): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATATATATATATTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DTNA_chr18_34705298_34896844	34790567	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0007 a0001c0001t0012g0007	1	112	0.0089	51	c.149 others(68): Show c.149-3469_149-3468insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTWD2_chr5_118831074_118993547	118891024	A A	AAATACGT others(44): Show AAATACGTACATATTTATACAACAACTTTACCAATAAAGAGATTTCATTA GT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	242	0.0041	51	c.597 others(70): Show c.597+37462_597+37512dupACTAATGAAATCTCTTTATTGGTAAA GTTGTTGTATAAATATGTACGTATT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	4/5			chr5	TogoVar
DTX2_chr7_76456709_76510991	76486884	C C	CTGCTGCT others(44): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT TT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0020 a0003c0005t0001g0020	1	280	0.0036	51	c.908 others(68): Show c.908+3740_908+3741insTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTTTTGC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUXA_chr19_57149021_57172485	57171993	C C	CGCGAGCG others(44): Show CGCGAGCGGGGGTCCGGGGGGCGGGGGCCGCGAGGGGGGGCGGGGGCCGC GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	446	0.0022	51	c.-45 others(62): Show c.-4551_-4550insTCGCGGCCCCCGCCCCCCCTCGCGGCCCCCGCCC CCCGGACCCCCGCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4509		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGCGC others(44): Show GGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18944.hp2 NA18945.hp2 others(3): Show NA18612.hp1 NA18944.hp2 NA18945.hp2 NA18956.hp1 NA19007.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0289 a0001c0001t0001g0290 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0325 a0001c0001t0001g0368	6	446	0.0135	51	c.-46 others(62): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCGCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGCGT others(44): Show GGGGGCGTGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	446	0.0022	51	c.-46 others(62): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCACGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172078	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18960.hp1 HG00423.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0027 a0001c0001t0001g0002 a0001c0001t0002g0027	2	446	0.0045	51	c.-46 others(62): Show c.-4636_-4635insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC GCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4594		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172095	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19090.hp2 NA19060.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0324 a0001c0001t0001g0314 a0001c0001t0001g0324	2	446	0.0045	51	c.-46 others(62): Show c.-4653_-4652insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC GCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4611		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172095	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	446	0.0022	51	c.-46 others(62): Show c.-4653_-4652insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC ACGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4611		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172112	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	446	0.0022	51	c.-46 others(62): Show c.-4670_-4669insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC GCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4628		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172129	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	446	0.0022	51	c.-46 others(62): Show c.-4687_-4686insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC GCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4645		chr19	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(44): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	396	0.0025	51	c.75 others(60): Show c.757_*758insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
EEFSEC_chr3_128148481_128413646	128150870	A A	ATATATTC others(44): Show ATATATTCTATATATATAATATAATATTCTATATTATATATATAATATAT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01496.hp1 others(22): Show HG01243.hp2 HG01255.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0007 a0001c0002 a0001c0008 a0002c0007	a0001c0002t0001 a0001c0008t0001 a0002c0007t0001 a0001c0002t0001 a0001c0008t0001 a0002c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(22): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0008t0001g0013 a0001c0008t0001g0014 a0002c0007t0001g0017 a0002c0007t0001g0021	25	272	0.0919	51	c.-26 others(62): Show c.-2638_-2637insTATATTCTATATATATAATATAATATTCTATATT ATATATATAATATATTC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2610		chr3	TogoVar
EFHB_chr3_19874472_19939217	19908601	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0081 a0006c0008t0001g0081	1	344	0.0029	51	c.128 others(70): Show c.1289-2853_1289-2852insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTC	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFNA2_chr19_1280873_1306431	1282565	T T	TGGGAGGG others(44): Show TGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0107 a0001c0001t0032g0107	1	294	0.0034	51	c.-36 others(62): Show c.-3604_-3603insGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGG TGTGAAGGGAGGAGGGA	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3307		chr19	TogoVar
EGFL7_chr9_136657916_136677678	136669368	C C	CAGAATGG others(44): Show CAGAATGGTAATGATAGCCAGTTTGCATTTTGTATATTAGTTGTAACGAA AA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	432	0.0023	51	c.198 others(66): Show c.198-238_198-237insAGAATGGTAATGATAGCCAGTTTGCATTTT GTATATTAGTTGTAACGAAAA	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding	5/10			chr9	TogoVar
EIF3CL_chr16_28374715_28408841	28380189	T T	TGCTCCAA others(44): Show TGCTCCAATCCCTCCATGGCTCCACCTGCCCGCTTCCCACCCCGGCCCCT AC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04199.hp2 HG03927.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0086 a0001c0001t0001g0050 a0001c0001t0001g0086	2	172	0.0116	51	c.249 others(66): Show c.2499+52_2500-52dupGTAGGGGCCGGGGTGGGAAGCGGGCAGGTG GAGCCATGGAGGGATTGGAGC	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	19/20			chr16	TogoVar
ELAPOR1_chr1_109109115_109211781	109110217	G G	GCCTCACT others(44): Show GCCTCACTTCATTTCTTTGTCGCGAATACGACCTCCTTGACTCTCTGGTT TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0105 a0001c0013t0001g0105	1	230	0.0044	51	c.-39 others(62): Show c.-3967_-3966insCCTCACTTCATTTCTTTGTCGCGAATACGACCTC CTTGACTCTCTGGTTTA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		3897		chr1	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(44): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	342	0.0029	51	c.239 others(70): Show c.239-18848_239-18847insTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(44): Show TCCAGTCTCACACACACACACACACACACACACACACACACACACACACA CA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18994.hp1 HG00544.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0272 a0001c0001t0001g0241 a0001c0001t0001g0272	2	342	0.0059	51	c.238 others(70): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELMO1_chr7_36847906_37453864	37086795	A A	AAAGTTTT others(44): Show AAAGTTTTAAAAATATATTTTTATTTACATTATTTTTCTATGGCTATTCT TT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp1 HG01258.hp1 others(4): Show HG00741.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG02886.hp2 HG03130.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0001c0003t0008 a0001c0005t0007	a0001c0001t0001g0041 a0001c0002t0002g0048 a0001c0002t0004g0053 others(4): Show a0001c0001t0001g0041 a0001c0002t0002g0048 a0001c0002t0004g0053 a0001c0003t0002g0091 a0001c0003t0008g0045 a0001c0003t0008g0079 a0001c0005t0007g0016	7	92	0.0761	51	c.130 others(70): Show c.1300+9823_1300+9824insAAAGAATAGCCATAGAAAAATAATGT AAATAAAAATATATTTTTAAAACTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(44): Show GCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19068.hp1 NA19057.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0118 a0001c0001t0005g0012 a0001c0001t0001g0118 a0001c0001t0005g0012	2	312	0.0064	51	c.-47 others(62): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACACACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGG others(44): Show GGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	312	0.0032	51	c.-47 others(62): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACACCCCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELP1_chr9_108862517_108939124	108900756	A A	ACACACAC others(44): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02886.hp1 HG00099.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0328 a0001c0002t0006g0247 a0001c0001t0002g0328 a0001c0002t0006g0247	2	416	0.0048	51	c.201 others(68): Show c.2015-432_2015-382dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EML1_chr14_99788413_99947060	99928101	G G	GTGGTGAT others(44): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGAGGTGGTGGTGATGGTGGT GA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0108 a0001c0004t0013g0108	1	288	0.0035	51	c.190 others(70): Show c.1909+7227_1909+7228insTGATGGTGGTGATGGTGGTGATGGTG GAGGTGGTGGTGATGGTGGTGATGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(44): Show GTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01928.hp2 HG02572.hp1 others(5): Show HG00621.hp2 HG01928.hp2 HG02572.hp1 HG02630.hp1 HG02976.hp2 HG03209.hp1 NA18961.hp2 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0002 a0001c0003 a0001c0004 a0003c0002	a0001c0003t0001 a0001c0004t0005 a0003c0002t0001 others(3): Show a0001c0003t0001 a0001c0004t0005 a0003c0002t0001 a0003c0002t0006 a0003c0002t0010 a0003c0002t0012	a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0158 others(5): Show a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0158 a0001c0004t0005g0242 a0003c0002t0001g0146 a0003c0002t0006g0088 a0003c0002t0010g0200 a0003c0002t0012g0253	8	288	0.0278	51	c.190 others(70): Show c.1909+7355_1909+7356insATGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	264	0.0038	51	c.243 others(70): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(44): Show CACACACACACACACACACACACACACACACACACACACACACACACACA CA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	312	0.0032	51	c.-8+ others(68): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
ERBB4_chr2_211370717_212543802	211611407	A A	AGCTTTAC others(44): Show AGCTTTACTTTTGCTTTCGCTTTACTTTTGCTTTCGCTTTACTTTTGCTT TC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp1 HG03516.hp2 others(3): Show HG02615.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0004t0021	a0001c0001t0003g0049 a0001c0001t0004g0008 a0001c0001t0004g0033 others(3): Show a0001c0001t0003g0049 a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0006g0026 a0001c0001t0010g0005 a0001c0004t0021g0009	6	56	0.1071	51	c.230 others(70): Show c.2301+7769_2301+7770insGAAAGCAAAAGTAAAGCGAAAGCAAA AGTAAAGCGAAAGCAAAAGTAAAGC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018532	T T	TAATATAT others(44): Show TAATATATATTATATAATATATATTATATAATATATATTATATAATATAT AA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	306	0.0033	51	c.534 others(68): Show c.534-2790_534-2789insAATATATATTATATAATATATATTATAT AATATATATTATATAATATATAA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(44): Show CATATATATATATATATATATGCCTTATATATATATGCATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	74	0.0135	51	c.256 others(72): Show c.2565-64533_2565-64532insATATATATATATATGCATATATAT ATAAGGCATATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(44): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGGGAGGAGAGGGGGAGGGGGGGGA GG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	334	0.0030	51	c.156 others(68): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGGGAGGAGAG GGGGAGGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH6B_chr13_45536294_45620739	45540162	T T	TCAGGGTT others(44): Show TCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGGAAGCGTGTGGGATCCA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02486.hp1 HG03453.hp2 HG01975.hp2 HG02486.hp1 HG03453.hp2	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0040 a0002c0002 a0022c0024 a0001c0040 a0002c0002 a0022c0024	a0001c0040t0001 a0002c0002t0001 a0022c0024t0001 a0001c0040t0001 a0002c0002t0001 a0022c0024t0001	a0001c0040t0001g0045 a0002c0002t0001g0301 a0022c0024t0001g0204 a0001c0040t0001g0045 a0002c0002t0001g0301 a0022c0024t0001g0204	3	326	0.0092	51	c.12 others(62): Show c.1249_*1299dupCCTGGATCCCACACGCTTCCTGCACAGCCCCAGA GGCTCTCTCCAACCCTG	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding		1131		chr13	TogoVar
ESR1_chr6_151802682_152108274	151850107	T T	TAATTTTA others(44): Show TAATTTTATATGCATATAAAATTATATATATATTATTTTCTATGCATATA AA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19043.hp1 HG01891.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0167 a0001c0001t0015g0166 a0001c0001t0005g0167 a0001c0001t0015g0166	2	250	0.0080	51	c.643 others(68): Show c.643+7321_643+7322insATTTTATATGCATATAAAATTATATATA TATTATTTTCTATGCATATAAAA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGA others(44): Show GGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGAAGCAAGCGTGGAG GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG01069.hp2 others(17): Show HG00408.hp1 HG00735.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp1 HG02015.hp1 HG02155.hp1 HG02300.hp1 HG02922.hp2 HG03491.hp2 HG04228.hp1 NA18954.hp1 NA18964.hp2 NA18979.hp2 NA19043.hp1 NA19064.hp1 NA19087.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0023 a0003c0003 others(2): Show a0001c0001 a0002c0023 a0003c0003 a0003c0016 a0008c0015	a0001c0001t0010 a0002c0023t0039 a0003c0003t0004 others(4): Show a0001c0001t0010 a0002c0023t0039 a0003c0003t0004 a0003c0003t0005 a0003c0003t0019 a0003c0016t0004 a0008c0015t0004	a0001c0001t0010g0045 a0002c0023t0039g0182 a0003c0003t0004g0015 others(17): Show a0001c0001t0010g0045 a0002c0023t0039g0182 a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0004g0018 a0003c0003t0004g0339 a0003c0003t0004g0343 a0003c0003t0004g0344 a0003c0003t0004g0345 a0003c0003t0004g0346 a0003c0003t0004g0347 a0003c0003t0005g0248 a0003c0003t0005g0286 a0003c0003t0005g0323 a0003c0003t0005g0359 a0003c0003t0005g0360 a0003c0003t0005g0361 a0003c0003t0019g0004 a0003c0016t0004g0078 a0008c0015t0004g0342	20	370	0.0541	51	c.49 others(62): Show c.4969_*4970insACCTCCACGCTTGCTTCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGA others(44): Show GGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCGTGGAG GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0015 a0001c0014t0015	a0001c0014t0015g0173 a0001c0014t0015g0173	1	370	0.0027	51	c.49 others(62): Show c.4969_*4970insACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729706	G G	GAGCAGTG others(44): Show GAGCAGTGTGGAGATGTTGGGGAGTTCCGAGCAGGTGTGGAGGTGCTGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03540.hp2 others(1): Show HG02258.hp2 HG02818.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0014 a0001c0001t0017	a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 others(1): Show a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 a0001c0001t0017g0193	4	370	0.0108	51	c.45 others(62): Show c.4500_*4501insTCCCCAGCACCTCCACACCTGCTCGGAACTCCCC AACATCTCCACACTGCT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1290		chr7	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(44): Show GATATATATATTTTATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18980.hp2 HG02293.hp1 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0094 a0002c0002t0002g0050 a0002c0002t0002g0094	2	378	0.0053	51	c.701 others(66): Show c.701+321_701+322insATATATATATATATATATATATATATATAT ATATATATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATCAT others(44): Show TATATCATATATGTGATATATAATATATCATATATATGATATATAATATA TC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0109 a0002c0003t0011g0109	1	318	0.0031	51	c.535 others(68): Show c.535-3721_535-3720insGATATATTATATATCATATATATGATAT ATTATATATCACATATATGATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXOC2_chr6_480154_698139	501466	A A	ATATATTA others(44): Show ATATATTATATATATCTATATATTATATATATCTATATATATTATATATA TC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	272	0.0037	51	c.238 others(70): Show c.2381-1767_2381-1766insGATATATATAATATATATAGATATAT ATAATATATAGATATATATAATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519789	A A	ACACTCAC others(44): Show ACACTCACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCG AC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0037 a0001c0002t0021g0037	1	272	0.0037	51	c.238 others(72): Show c.2380+12679_2380+12680insGTCGGCGCTCGGTGGGTGGTGGTT CTCGTCTCCGAGTGTGGACGGTGAGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC6_chr10_92843520_93064490	92974540	G G	GCTCGTCT others(44): Show GCTCGTCTCCCTCTCCCGTCTCCCTCTCCCCACGGTCTCCCTCTCCCTCT CC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	288	0.0035	51	c.195 others(68): Show c.1953+358_1953+359insCCTCGTCTCCCTCTCCCGTCTCCCTCTC CCCACGGTCTCCCTCTCCCTCTC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC3_chr9_37774714_37790064	37777254	C C	CCCAGCTT others(44): Show CCCAGCTTTTAACCTCTCACCACTGAATTCCTGTTTGATCTTCAGGGTTC AG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	432	0.0023	51	c.33 others(62): Show c.3374_*3424dupCTGAACCCTGAAGATCAAACAGGAATTCAGTGGT GAGAGGTTAAAAGCTGG	EXOSC3	ENSG00000107371.14	transcript	ENST00000327304.10	protein_coding		2459		chr9	TogoVar
EXOSC4_chr8_144073672_144085648	144084923	T T	TCAACTCT others(44): Show TCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGATGGGGGGTGGGGTACG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	302	0.0033	51	c.43 others(62): Show c.4322_*4323insCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGAT GGGGGGTGGGGTACGGG	EXOSC4	ENSG00000178896.9	transcript	ENST00000316052.6	protein_coding		4276		chr8	TogoVar

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