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 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
CSGALNACT1_chr8_19399161_19762277	19666975	GAAAGAAA others(60): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG AAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20300.hp2 HG03486.hp2 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0020 a0003c0005t0004 a0002c0003t0020 a0003c0005t0004	a0002c0003t0020g0078 a0003c0005t0004g0077 a0002c0003t0020g0078 a0003c0005t0004g0077	2	238	0.0084	-67	c.-39 others(88): Show c.-391-65177_-391-65111delTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3135395	TGGCTTCT others(60): Show TGGCTTCTTCCCCTTTAAAACATGCTCTTGAGTGAAGTCTGCTGATCACA TTTCTGACTCTGTGAACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp2 others(43): Show HG00099.hp1 HG00423.hp2 HG00438.hp2 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01261.hp1 HG01934.hp2 HG02074.hp2 HG02129.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02683.hp2 HG02886.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18971.hp1 NA18979.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19090.hp2 NA20129.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0017 a0019 a0020 a0028 a0034 a0039	a0001c0001 a0001c0002 a0001c0003 others(41): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0017 a0001c0019 a0001c0020 a0001c0039 a0001c0047 a0001c0050 a0001c0073 a0001c0080 a0001c0081 a0001c0093 a0001c0103 a0001c0108 a0001c0109 a0001c0111 a0002c0015 a0002c0037 a0002c0041 a0002c0054 a0002c0072 a0002c0074 a0002c0075 a0002c0077 a0002c0089 a0002c0091 a0002c0092 a0003c0034 a0004c0056 a0004c0087 a0004c0099 a0006c0116 a0007c0029 a0011c0110 a0012c0104 a0017c0106 a0019c0018 a0020c0024 a0028c0097 a0034c0055 a0039c0009	a0001c0001t0002 a0001c0001t0039 a0001c0002t0061 others(42): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0061 a0001c0003t0008 a0001c0004t0020 a0001c0006t0060 a0001c0017t0005 a0001c0019t0078 a0001c0020t0016 a0001c0039t0066 a0001c0047t0014 a0001c0050t0053 a0001c0073t0007 a0001c0080t0040 a0001c0081t0037 a0001c0093t0009 a0001c0103t0033 a0001c0108t0054 a0001c0109t0038 a0001c0111t0045 a0002c0015t0021 a0002c0037t0009 a0002c0041t0027 a0002c0054t0079 a0002c0072t0003 a0002c0074t0041 a0002c0075t0026 a0002c0077t0001 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0003c0034t0030 a0004c0056t0062 a0004c0087t0001 a0004c0099t0014 a0006c0116t0004 a0007c0029t0011 a0011c0110t0074 a0012c0104t0071 a0017c0106t0012 a0019c0018t0058 a0020c0024t0077 a0028c0097t0018 a0034c0055t0034 a0039c0009t0001	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(43): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0004t0020g0086 a0001c0006t0060g0103 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0039t0066g0080 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0073t0007g0108 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0093t0009g0007 a0001c0103t0033g0028 a0001c0108t0054g0074 a0001c0109t0038g0013 a0001c0111t0045g0063 a0002c0015t0021g0008 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0054t0079g0096 a0002c0072t0003g0066 a0002c0074t0041g0031 a0002c0075t0026g0051 a0002c0077t0001g0016 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0034t0030g0038 a0004c0056t0062g0072 a0004c0087t0001g0022 a0004c0099t0014g0020 a0006c0116t0004g0039 a0007c0029t0011g0054 a0011c0110t0074g0082 a0012c0104t0071g0058 a0017c0106t0012g0042 a0019c0018t0058g0068 a0020c0024t0077g0104 a0028c0097t0018g0089 a0034c0055t0034g0047 a0039c0009t0001g0002	46	126	0.3651	-67	c.624 others(86): Show c.6241+7003_6241+7069delGGTTCACAGAGTCAGAAATGTGATCA GCAGACTTCACTCAAGAGCATGTTTTAAAGGGGAAGAAGCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795714	ACAGCTAT others(60): Show ACAGCTATAGATATCTATCATGTACAGCTATAGATACCTATCATGTACAG CTATAGATACCTATCATG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0082 a0008c0008t0082	a0008c0008t0082g0126 a0008c0008t0082g0126	1	126	0.0079	-67	c.819 others(86): Show c.819-41739_819-41673delCATGATAGGTATCTATAGCTGTACAT GATAGGTATCTATAGCTGTACATGATAGATATCTATAGCTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542619	TATATATA others(60): Show TATATATATATATATATATATGTATATATATATATATATATATATATATA TATGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	2	390	0.0051	-67	c.230 others(84): Show c.230+7389_230+7455delTATATATATATATACATATATATATATA TATATATATATATATATACATATATATATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CST8_chr20_23486117_23501010	23490237	TTATATAT others(60): Show TTATATATATAATATATATATAAATTATATATATATTAATTATATATATA TAAAATATATATAATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-67	c.-12 others(78): Show c.-1248_-1182delTATATATATAATATATATATAAATTATATATATA TTAATTATATATATATAAAATATATATAATTTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		879		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561017	TTCCTTCT others(60): Show TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	392	0.0026	-67	c.38 others(78): Show c.3864_*3930delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3714		chr20	TogoVar
CTSS_chr1_150725188_150770778	150743612	ATATATGT others(60): Show ATATATGTATATTATGTATACATAATATATTATATATGTATATTATGTAT ACATAATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	344	0.0029	-67	c.896 others(84): Show c.896+4098_896+4164delATATATAATATATTATGTATACATAATA TACATATATAATATATTATGTATACATAATATACATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTU2_chr16_88701503_88720396	88710469	TGTGTGTG others(60): Show TGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAG AAGCTGGGTCCACAGCGC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02809.hp1 HG02074.hp1 HG02809.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0002 a0004c0005t0001 a0004c0005t0002	a0004c0005t0001g0202 a0004c0005t0002g0141 a0004c0005t0001g0202 a0004c0005t0002g0141	2	418	0.0048	-67	c.282 others(82): Show c.282+252_282+318delCGCGTGTGTGCGGCCCACTCTCAGATGTGT TTACAGCAGGTGCACAAATCAGAAGCTGGGTCCACAG	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88710534	CGCGTGTG others(60): Show CGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATC AGAAGCTGGGTCCACAGT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	418	0.0024	-67	c.282 others(82): Show c.282+297_282+363delAAATCAGAAGCTGGGTCCACAGTGCGTGTG TGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCAC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88710598	CAGTGCGT others(60): Show CAGTGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACCA ATCAGAAGCTGGGTCCAG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0197 a0004c0005t0001g0197	1	418	0.0024	-67	c.282 others(82): Show c.282+338_282+404delCTCAGATGTGTTTACAGCAGGTGCACCAAT CAGAAGCTGGGTCCAGAGTGCGTGTGTGCGGCCCACT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232151	ACTGCTGC others(60): Show ACTGCTGCCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACCATTACTG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0015 a0001c0012t0004g0015	1	396	0.0025	-67	c.513 others(83): Show c.513-1021_513-955delTGCCACCACTACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGCTGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYFIP1_chr15_22862052_22985368	22964286	ACACACAC others(60): Show ACACACACACACACACACACACACACACAACTGGCGGCCCCACCAGCAGA CTCCGCAACCTCATCACT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01516.hp2 HG01517.hp2 others(3): Show HG01192.hp2 HG01516.hp2 HG01517.hp2 HG02559.hp1 HG02717.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0002c0004 others(2): Show a0001c0005 a0002c0003 a0002c0004 a0002c0009 a0002c0039	a0001c0005t0001 a0002c0003t0009 a0002c0004t0006 others(2): Show a0001c0005t0001 a0002c0003t0009 a0002c0004t0006 a0002c0009t0005 a0002c0039t0007	a0001c0005t0001g0102 a0002c0003t0009g0095 a0002c0004t0006g0080 others(3): Show a0001c0005t0001g0102 a0002c0003t0009g0095 a0002c0004t0006g0080 a0002c0004t0006g0100 a0002c0009t0005g0073 a0002c0039t0007g0066	6	342	0.0175	-67	c.-7+ others(84): Show c.-7+15934_-7+16000delAGTGATGAGGTTGCGGAGTCTGCTGGTG GGGCCGCCAGTTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
DACH1_chr13_71432966_71872204	71735369	GGGATATA others(60): Show GGGATATACGTGTATATGGGATATACACGTATACGGGATATACACGTATA TGGGATATACACGTATAC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0021 a0001c0001t0012g0021	1	102	0.0098	-67	c.849 others(86): Show c.849-53526_849-53460delGTATACGTGTATATCCCATATACGTG TATATCCCGTATACGTGTATATCCCATATACACGTATATCC	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(60): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18947.hp1 NA18973.hp2 others(3): Show HG03239.hp1 NA18947.hp1 NA18973.hp2 NA19000.hp1 NA19065.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0115 a0001c0002t0002g0135 others(3): Show a0001c0002t0002g0097 a0001c0002t0002g0115 a0001c0002t0002g0135 a0001c0002t0002g0138 a0001c0002t0002g0142 a0001c0002t0002g0145	6	380	0.0158	-67	c.121 others(84): Show c.1218+351_1218+417delCTCCCGCGCTGCCTGCGCCTCCCGCGCT GCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCC	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DDX51_chr12_132131594_132149319	132135746	CCCGAGTG others(60): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0004 a0019c0030t0004	a0019c0030t0004g0074 a0019c0030t0004g0074	1	334	0.0030	-67	c.34 others(78): Show c.3459_*3525delAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGG AGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		847		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135780	CCCGAGTG others(60): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	-67	c.34 others(78): Show c.3425_*3491delAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGG AGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		813		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135872	TCCTCCCA others(60): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA18940.hp1 NA18959.hp2 others(1): Show HG02602.hp2 NA18940.hp1 NA18959.hp2 NA19002.hp2	a0002 a0009 a0002 a0009	a0002c0005 a0009c0013 a0002c0005 a0009c0013	a0002c0005t0005 a0009c0013t0005 a0002c0005t0005 a0009c0013t0005	a0002c0005t0005g0090 a0009c0013t0005g0033 a0009c0013t0005g0087 a0002c0005t0005g0090 a0009c0013t0005g0033 a0009c0013t0005g0087	4	334	0.0120	-67	c.33 others(78): Show c.3333_*3399delGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGA GCGGGCACCGGGGCACACTCGGGAGGTGGGAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		721		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135883	CCCGAGTG others(60): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0017 a0012c0015t0017	a0012c0015t0017g0031 a0012c0015t0017g0031	1	334	0.0030	-67	c.33 others(78): Show c.3322_*3388delAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGG AGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		710		chr12	TogoVar
DHRS12_chr13_51762993_51809163	51775665	TCTCCTAC others(60): Show TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02145.hp1 HG03041.hp2 others(2): Show HG00423.hp1 HG02145.hp1 HG03041.hp2 HG03540.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0135 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137	5	420	0.0119	-67	c.363 others(84): Show c.363+1328_363+1394delGAGAATACTGTAGAATACATGTAGGAGA ATACTGTAGGAGAATACTGTAGGAGAATACATGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2228153	AGGGAGGG others(60): Show AGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGGGGGAAGGGGGGAAGGGAG GGAGGGAGGGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	50	0.0200	-67	c.805 others(84): Show c.805-6991_805-6925delCTCTCCCTCCCTCCCTCCCTCCCTTCCC CCCTTCCCCCCTCCCTCCCTCCCTTCCCCCCTCCCTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIP2C_chr10_269201_694668	544114	ATTCAAGG others(60): Show ATTCAAGGTGAGTGGAATCGCACAGTGCGTGACCTTTGGTGTGACCTTTG GTGCCGGCATCTTTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-67	c.86- others(84): Show c.86-57651_86-57585delCGGGAAAGATGCCGGCACCAAAGGTCAC ACCAAAGGTCACGCACTGTGCGATTCCACTCACCTTGAA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1015293	CGGCGCCT others(60): Show CGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-67	c.73+ others(86): Show c.73+107329_73+107395delGCGCCTCCACTGTGTGTATGACCAGG ACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1016901	CGGCGCCT others(60): Show CGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	-67	c.73+ others(86): Show c.73+108937_73+109003delGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33047242	AAACAATA others(60): Show AAACAATAGCCACATAATAATACTATCTAAGGGAACATTACTGATGTACC TAGATTTTTTAAACTTTC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0028 a0028	a0028c0046 a0028c0046	a0028c0046t0029 a0028c0046t0029	a0028c0046t0029g0126 a0028c0046t0029g0126	1	126	0.0079	-67	c.32- others(84): Show c.32-27109_32-27043delGAAAGTTTAAAAAATCTAGGTACATCAG TAATGTTCCCTTAGATAGTATTATTATGTGGCTATTGTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DNAH17_chr17_78418697_78582396	78572948	ACCGCACA others(60): Show ACCGCACAGAGCCAGGTCCCCGGGGGGTTCCAAAGACCCGGTGTCTGGAG CCCTGGGAAAACTGGGTC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG02886.hp1 HG02451.hp1 HG02809.hp1 HG02886.hp1	a0056 a0086 a0149 a0056 a0086 a0149	a0056c0112 a0086c0045 a0149c0227 a0056c0112 a0086c0045 a0149c0227	a0056c0112t0001 a0086c0045t0001 a0149c0227t0001 a0056c0112t0001 a0086c0045t0001 a0149c0227t0001	a0056c0112t0001g0072 a0086c0045t0001g0109 a0149c0227t0001g0142 a0056c0112t0001g0072 a0086c0045t0001g0109 a0149c0227t0001g0142	3	252	0.0119	-67	c.346 others(81): Show c.346-121_346-55delGACCCAGTTTTCCCAGGGCTCCAGACACCGG GTCTTTGGAACCCCCCGGGGACCTGGCTCTGTGCGG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	2/80			chr17	TogoVar
DNAJC25_chr9_111626334_111659345	111640884	TGGGGGGT others(60): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCGTCCGGCCAGCCGTG CCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG04199.hp1 HG04204.hp2 others(8): Show HG02071.hp2 HG04199.hp1 HG04204.hp2 NA18953.hp2 NA18977.hp2 NA18981.hp1 NA18994.hp2 NA18995.hp1 NA19005.hp2 NA19011.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 a0001c0001t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0001g0050 a0001c0001t0001g0226 a0001c0001t0001g0227 others(7): Show a0001c0001t0001g0050 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0002g0230 a0002c0005t0001g0289	11	412	0.0267	-67	c.337 others(84): Show c.337-6206_337-6140delCGCCCGGCCAGCCGTGCCGTCCGGCCAG CCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOC2B_chr17_137789_186650	141412	AGGACCTG others(60): Show AGGACCTGGGGGGGACCTTGGTGAGGGGAGCATGGTGAGGGGAACATGGG TGGGGAGCCTTGGTGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0272 a0001c0002t0023g0272	1	339	0.0030	-67	c.59 others(78): Show c.5962_*6028delCCTCACCAAGGCTCCCCACCCATGTTCCCCTCAC CATGCTCCCCTCACCAAGGTCCCCCCCAGGTCC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1376		chr17	TogoVar
DSG3_chr18_31442741_31483702	31457547	CTCTTTCT others(60): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0048 a0012c0024t0048	a0012c0024t0048g0242 a0012c0024t0048g0242	1	346	0.0029	-67	c.216 others(82): Show c.216+453_216+519delCTTTCTTTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DUXA_chr19_57149021_57172485	57172100	GGGGGCGG others(60): Show GGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCG AGGGGGCGGGGCGCGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	446	0.0022	-67	c.-47 others(78): Show c.-4724_-4658delTCGCGCGCCCCGCCCCCTCGCGCGCCCCGCCCCC TCGCGCGCCCCGCCCCCTCGCGCGCCCCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4616		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172106	GGGGCGCG others(60): Show GGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGG CGGGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	446	0.0022	-67	c.-47 others(78): Show c.-4730_-4664delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4622		chr19	TogoVar
DYNC1H1_chr14_101959573_102061443	102045390	CACCTGAG others(60): Show CACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCC ATCTCTACAAAAAATACA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03491.hp2 HG02486.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0084 a0001c0002t0015g0133 a0001c0002t0015g0084 a0001c0002t0015g0133	2	280	0.0071	-67	c.130 others(86): Show c.13006+694_13006+760delCCTGAGGTCAGGAGTTCGAGACCAGC CTGGCCAACATGGTGAAATCCCATCTCTACAAAAAATACAA	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
ECHS1_chr10_133357485_133378354	133372941	GGGGTGCG others(60): Show GGGGTGCGGGGTCAGGTGGGGGGGTGCGGGGTCAGGCGGAGTGGGGTGCG GGTAGGGGTCAGGCCGGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	354	0.0028	-67	c.88+ others(80): Show c.88+238_88+304delTCCGGCCTGACCCCTACCCGCACCCCACTCCG CCTGACCCCGCACCCCCCCACCTGACCCCGCACCC	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	1/7			chr10	TogoVar
EFHB_chr3_19874472_19939217	19938922	TTTGAGAA others(60): Show TTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTGCAGTGCAGTGGCACAA TCTTGGCTCACTGCAACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0155 a0003c0004t0001g0155	1	344	0.0029	-67	c.-49 others(78): Show c.-4971_-4905delGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTG CAGCCTGGGTGACAGAGTGAGACTCCTTCTCAA	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding		4706		chr3	TogoVar
EIPR1_chr2_3183970_3382818	3246997	CGAGGGAG others(60): Show CGAGGGAGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAGGGAGAGAGGGA GGGAGAGAGGGAGGGAGA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(63): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG01109.hp2 HG01192.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 NA18747.hp1 NA18944.hp1 NA18950.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18999.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19066.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0005t0001	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0071 others(63): Show a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0003g0150 a0001c0001t0004g0026 a0001c0001t0004g0107 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0009g0248 a0001c0005t0001g0104	66	250	0.2640	-67	c.416 others(86): Show c.416+10235_416+10301delTCTCCCTCCCTCTCTCCCTCCCTCTC TCCCTCCCTCGCTCTCTCCCTCCCTCGCTCTCTCCTCCCTC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELOVL5_chr6_53262404_53353950	53306294	GGAGAGGG others(60): Show GGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGG AGAGGGAGAGGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	320	0.0031	-67	c.-8- others(84): Show c.-8-10654_-8-10588delTCTCTCCCCTCTCCCTCTCCCCTCTCCC CTCTCCCCTCTCCCCTCTCCCTCTCCCCTCTCCCCTCTC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ENOSF1_chr18_665318_717630	666920	GAGATGGT others(60): Show GAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGT GATGGAGATGGAGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	418	0.0024	-67	c.73 others(78): Show c.7318_*7384delACCATCTCCATCTCCATCACCATCTCCATCTCCA TCACCATCACCATCTCCATCACCATCACCATCT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3397		chr18	TogoVar
ENOSF1_chr18_665318_717630	666974	GAGATGGA others(60): Show GAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGA GATGGTGATGGAGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0395 a0003c0004t0002g0395	1	418	0.0024	-67	c.72 others(78): Show c.7264_*7330delACCATCTCCATCACCATCTCCATCTCCATCACCA TCACCATCTCCATCACCATCACCATCTCCATCT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3343		chr18	TogoVar
EPHA3_chr3_89102621_89487134	89257410	CCACTCCC others(60): Show CCACTCCCTTCTCAAAACAACAAGGTGATCTTTGCCACTTCCCCACACAA AGGGACCAGGGACTTTTG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0029 a0002c0011t0003g0029	1	200	0.0050	-67	c.814 others(86): Show c.814+46891_814+46957delCACTCCCTTCTCAAAACAACAAGGTG ATCTTTGCCACTTCCCCACACAAAGGGACCAGGGACTTTTG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16			chr3	TogoVar
EPSTI1_chr13_42881388_42997241	42952014	AAGAGGTT others(60): Show AAGAGGTTTGTAAAATGCACCAATCAGTGCTCTGTAAAAATGCACCAATC AGCGCTCTGTGACTAGCT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0159 a0001c0001t0017g0159	1	352	0.0028	-67	c.563 others(84): Show c.563+1867_563+1933delAGCTAGTCACAGAGCGCTGATTGGTGCA TTTTTACAGAGCACTGATTGGTGCATTTTACAAACCTCT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
ERC2_chr3_55503311_56473467	55720176	TTCTTCTT others(60): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp1 HG02258.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0021 a0001c0001t0012g0023 a0001c0001t0002g0021 a0001c0001t0012g0023	2	74	0.0270	-67	c.271 others(88): Show c.2712+14528_2712+14594delGAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERFL_chr19_41902704_41933449	41914797	GTCTCTCC others(60): Show GTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGT CTCTCCCCCCCTCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02083.hp1 HG04115.hp1 others(2): Show HG01975.hp2 HG02083.hp1 HG04115.hp1 NA18993.hp2 NA19090.hp1	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0001 a0000c0003t0003 a0001c0001t0003 a0000c0003t0001 a0000c0003t0003 a0001c0001t0003	a0000c0003t0001g0110 a0000c0003t0003g0279 a0001c0001t0003g0245 others(2): Show a0000c0003t0001g0110 a0000c0003t0003g0279 a0001c0001t0003g0245 a0001c0001t0003g0258 a0001c0001t0003g0278	5	330	0.0152	-67	c.-13 others(84): Show c.-13-1932_-13-1866delTGGTGGAGGGGGGGAGAGACAGAGACGG TGGAAAGGGGGGGAGACACGGTGGAGGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC3_chr20_35537078_35562634	35539193	AATATATA others(60): Show AATATATATAACAGTTTATATATATATATAACAGTTTATATATATAATAT ATATAACAGTTTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	364	0.0028	-67	c.-29 others(78): Show c.-2904_-2838delATATATATAACAGTTTATATATATATATAACAGT TTATATATATAATATATATAACAGTTTATATAT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2884		chr20	TogoVar
ERI1_chr8_8997897_9038338	9004461	TGTTGCAT others(60): Show TGTTGCATGCTCTTTATAGTGATACTTTTTTTTTTTTTTTTTTTTTTTTT TACAAAAAGCCGGTCGTA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0052 a0002c0003t0052	a0002c0003t0052g0266 a0002c0003t0052g0266	1	426	0.0024	-67	c.108 others(84): Show c.108+1296_108+1362delATGCTCTTTATAGTGATACTTTTTTTTT TTTTTTTTTTTTTTTTTACAAAAAGCCGGTCGTAGTTGC	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH1_chr8_659200_736224	710459	TCTGGGCT others(60): Show TCTGGGCTCCACCTGCTCCTTCCAGTCCTCGGCATCGTACGGGGCGGTTT CACCGTCCTGCAAGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	378	0.0027	-67	c.169 others(84): Show c.169+5335_169+5401delGGGCCTTGCAGGACGGTGAAACCGCCCC GTACGATGCCGAGGACTGGAAGGAGCAGGTGGAGCCCAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073478	ATATATAT others(60): Show ATATATATGTATATATATATATATATATATATATATATGTATATATATAT ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp1 HG03486.hp2 others(3): Show HG02630.hp2 HG03486.hp1 HG03486.hp2 NA18969.hp1 NA19068.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0001c0001t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0001g0080 a0001c0001t0001g0131 a0001c0001t0001g0298 others(3): Show a0001c0001t0001g0080 a0001c0001t0001g0131 a0001c0001t0001g0298 a0001c0001t0002g0328 a0001c0001t0002g0340 a0004c0005t0001g0138	6	442	0.0136	-67	c.58+ others(82): Show c.58+8752_58+8818delTATATATGTATATATATATATATATATATA TATATATGTATATATATATATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ETS1_chr11_128453765_128592558	128585101	AAGGAAGG others(60): Show AAGGAAGGAAGGAAGGAAAGAAAGAAGAAAGAAAGAAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0234 a0001c0002t0004g0234	1	286	0.0035	-67	c.-15 others(84): Show c.-15+2320_-15+2386delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTCTTTCTTTCCTTCCTTCCTTCCT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EXOC2_chr6_480154_698139	501481	ATCTATAT others(60): Show ATCTATATATATTATATATATCTATATATTATATATATCTATATATATTA TATATATCTATATATTAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0272 a0001c0001t0027g0272	1	272	0.0037	-67	c.238 others(86): Show c.2381-1848_2381-1782delATAATATATAGATATATATAATATAT ATAGATATATATAATATATAGATATATATAATATATATAGA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FAM107B_chr10_14513557_14779897	14629391	AATATATA others(60): Show AATATATATTATATATTTAATATATATAATATATATAATATATATTATAT ATATATTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG02572.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0096 a0001c0001t0002g0076 a0001c0001t0002g0096	2	272	0.0074	-67	c.469 others(86): Show c.469+38176_469+38242delAATATATATATAATATATATATAATA TATATTATATATATTATATATATTAAATATATAATATATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM227A_chr22_38573118_38661392	38623363	GAGGATTG others(60): Show GAGGATTGCTTGAGCCCAGGAGACCAGCCTAGGCAACATAGTGGGACTCC GTCTCTATTTAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	328	0.0031	-67	c.851 others(81): Show c.851-151_851-85delTTCTTTTTAAATAGAGACGGAGTCCCACTAT GTTGCCTAGGCTGGTCTCCTGGGCTCAAGCAATCCT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	9/16			chr22	TogoVar
FCGR1A_chr1_149777694_149796675	149789841	AGGTATCC others(60): Show AGGTATCCTCAGTAGGACTCAGCAAGCTGGCAACCCTAATTATGTCTATT AGGACACCCCAAGAATGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0078 a0009c0011t0001g0078	1	414	0.0024	-67	c.560 others(82): Show c.560-212_560-146delGGTATCCTCAGTAGGACTCAGCAAGCTGGC AACCCTAATTATGTCTATTAGGACACCCCAAGAATGG	FCGR1A	ENSG00000150337.14	transcript	ENST00000369168.5	protein_coding	4/5			chr1	TogoVar

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