Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ENTREP2_chr15_29115252_29575979	29480338	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02280.hp1 others(2): Show HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG03486.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0002 a0001c0008 a0002c0004 others(2): Show a0001c0002 a0001c0008 a0002c0004 a0005c0016 a0008c0025	a0001c0002t0004 a0001c0008t0036 a0002c0004t0037 others(2): Show a0001c0002t0004 a0001c0008t0036 a0002c0004t0037 a0005c0016t0006 a0008c0025t0002	a0001c0002t0004g0002 a0001c0008t0036g0045 a0002c0004t0037g0066 others(2): Show a0001c0002t0004g0002 a0001c0008t0036g0045 a0002c0004t0037g0066 a0005c0016t0006g0032 a0008c0025t0002g0090	5	125	0.0400	-16	c.219 others(35): Show c.219+90151_219+90166delTTTTTTTTTTTTTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29544542	ATAAAAAA others(9): Show ATAAAAAATTCGGTAGT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01167.hp1 others(32): Show HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0002 a0001c0008 a0001c0010 others(20): Show a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0024 a0002c0003 a0002c0004 a0002c0009 a0002c0012 a0002c0015 a0002c0021 a0002c0031 a0003c0006 a0003c0007 a0003c0014 a0003c0030 a0005c0016 a0005c0018 a0005c0035 a0006c0033 a0006c0037 a0007c0028 a0008c0025	a0001c0002t0001 a0001c0002t0004 a0001c0008t0007 others(25): Show a0001c0002t0001 a0001c0002t0004 a0001c0008t0007 a0001c0010t0001 a0001c0011t0010 a0001c0024t0010 a0002c0003t0013 a0002c0003t0021 a0002c0003t0032 a0002c0004t0003 a0002c0009t0003 a0002c0012t0009 a0002c0015t0005 a0002c0021t0003 a0002c0031t0040 a0003c0006t0001 a0003c0006t0002 a0003c0006t0046 a0003c0007t0002 a0003c0014t0002 a0003c0030t0047 a0005c0016t0006 a0005c0018t0006 a0005c0035t0019 a0006c0033t0049 a0006c0037t0018 a0007c0028t0017 a0008c0025t0002	a0001c0002t0001g0082 a0001c0002t0004g0002 a0001c0008t0007g0115 others(32): Show a0001c0002t0001g0082 a0001c0002t0004g0002 a0001c0008t0007g0115 a0001c0010t0001g0088 a0001c0011t0010g0053 a0001c0024t0010g0062 a0002c0003t0013g0017 a0002c0003t0013g0019 a0002c0003t0021g0016 a0002c0003t0032g0109 a0002c0004t0003g0101 a0002c0009t0003g0044 a0002c0012t0009g0061 a0002c0012t0009g0091 a0002c0012t0009g0092 a0002c0015t0005g0070 a0002c0021t0003g0085 a0002c0021t0003g0086 a0002c0031t0040g0080 a0003c0006t0001g0108 a0003c0006t0002g0065 a0003c0006t0002g0081 a0003c0006t0046g0037 a0003c0007t0002g0087 a0003c0014t0002g0067 a0003c0014t0002g0103 a0003c0030t0047g0120 a0005c0016t0006g0079 a0005c0018t0006g0084 a0005c0018t0006g0110 a0005c0035t0019g0006 a0006c0033t0049g0123 a0006c0037t0018g0004 a0007c0028t0017g0089 a0008c0025t0002g0090	35	125	0.2800	-16	c.219 others(35): Show c.219+25947_219+25962delACTACCGAATTTTTTA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252710	ATATATAT others(9): Show ATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19089.hp2 NA18994.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	395	0.0051	-16	c.622 others(31): Show c.622-821_622-806delAAAATATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
EOGT_chr3_68970225_69018684	69016265	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0063 a0003c0008t0063	a0003c0008t0063g0393 a0003c0008t0063g0393	1	444	0.0023	-16	c.-30 others(27): Show c.-3063_-3048delTACACACACACACACA	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		2582		chr3	TogoVar
EOMES_chr3_27710953_27727323	27720531	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(160): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0001c0010 others(3): Show a0001c0001 a0001c0009 a0001c0010 a0001c0011 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0002c0002t0001 a0002c0002t0003 a0003c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0069 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0063 a0001c0001t0005g0072 a0001c0001t0012g0071 a0001c0001t0013g0080 a0001c0001t0014g0081 a0001c0009t0001g0076 a0001c0010t0001g0082 a0001c0011t0001g0088 a0002c0002t0001g0046 a0002c0002t0003g0044 a0002c0002t0003g0045 a0003c0004t0003g0014	163	400	0.4075	-16	c.882 others(31): Show c.882-222_882-207delTTTTTTTTTTTTTTTT	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding	1/5			chr3	TogoVar
EP300_chr22_41087592_41185077	41111876	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0235 a0001c0001t0019g0235	1	300	0.0033	-16	c.95- others(31): Show c.95-5297_95-5282delTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41112255	TCTCTGCT others(9): Show TCTCTGCTCACTGCAAC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04115.hp1 HG03688.hp2 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0104 a0002c0003t0001g0180 a0002c0003t0001g0104 a0002c0003t0001g0180	2	300	0.0067	-16	c.95- others(31): Show c.95-4923_95-4908delACTGCAACCTCTGCTC	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167576	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0288 a0001c0001t0007g0288	1	300	0.0033	-16	c.387 others(33): Show c.3875-871_3875-856delGTGTGTGTATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167578	GTGTGTGT others(9): Show GTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0111 a0001c0005t0017g0111	1	300	0.0033	-16	c.387 others(33): Show c.3875-869_3875-854delGTGTGTATATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167582	GTGTATAT others(9): Show GTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01106.hp2 others(6): Show HG00735.hp2 HG00738.hp1 HG01106.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02148.hp1 HG02293.hp1 NA19043.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0009c0025 a0001c0001 a0002c0003 a0009c0025	a0001c0001t0011 a0002c0003t0001 a0009c0025t0001 a0001c0001t0011 a0002c0003t0001 a0009c0025t0001	a0001c0001t0011g0273 a0002c0003t0001g0131 a0002c0003t0001g0148 others(6): Show a0001c0001t0011g0273 a0002c0003t0001g0131 a0002c0003t0001g0148 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0159 a0002c0003t0001g0162 a0002c0003t0001g0169 a0009c0025t0001g0139	9	300	0.0300	-16	c.387 others(33): Show c.3875-865_3875-850delGTATATATATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18906.hp2 HG01167.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0041 a0002c0003t0013 a0001c0001t0041 a0002c0003t0013	a0001c0001t0041g0187 a0002c0003t0013g0137 a0001c0001t0041g0187 a0002c0003t0013g0137	2	300	0.0067	-16	c.387 others(33): Show c.3875-828_3875-813delTATATATATATATATA	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41179880	TCACACAC others(9): Show TCACACACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0046 a0001c0006t0046	a0001c0006t0046g0047 a0001c0006t0046g0047	1	300	0.0033	-16	c.95 others(25): Show c.952_*967delACACACACACACACAC	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	31/31	952	INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	131949821	TCCTCCGG others(9): Show TCCTCCGGCGCCCTCGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0128 a0001c0003t0002g0128	1	208	0.0048	-16	c.-25 others(25): Show c.-250_-235delCCTCCGGCGCCCTCGA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding		120		chr12	TogoVar
EPAS1_chr2_46292407_46391697	46332291	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp2 HG02145.hp1 others(9): Show HG00741.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp2 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0040 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0040 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0015 a0003c0003t0006	a0001c0001t0001g0293 a0001c0001t0004g0041 a0001c0001t0040g0013 others(9): Show a0001c0001t0001g0293 a0001c0001t0004g0041 a0001c0001t0040g0013 a0002c0002t0001g0149 a0002c0002t0001g0182 a0002c0002t0001g0292 a0002c0002t0004g0040 a0002c0002t0005g0012 a0002c0002t0005g0021 a0002c0002t0015g0297 a0003c0003t0006g0043 a0003c0003t0006g0295	12	326	0.0368	-16	c.27- others(33): Show c.27-14555_27-14540delGTGTGTGTGTGTGTGT	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36188627	CACACACA others(9): Show CACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03491.hp2 NA19011.hp2 HG03041.hp2 HG03491.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0003	a0001c0001t0004g0117 a0001c0001t0005g0039 a0001c0002t0003g0059 a0001c0001t0004g0117 a0001c0001t0005g0039 a0001c0002t0003g0059	3	236	0.0127	-16	c.102 others(33): Show c.1026+130_1026+145delCACACACACACACAGA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36188629	CACACACA others(9): Show CACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp1 others(8): Show HG00738.hp2 HG01167.hp1 HG01169.hp1 HG02257.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0004 a0001c0002t0009 a0001c0011t0004 a0001c0001t0004 a0001c0002t0009 a0001c0011t0004	a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0004g0014 others(4): Show a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0002t0009g0058 a0001c0011t0004g0125	11	236	0.0466	-16	c.102 others(33): Show c.1026+132_1026+147delCACACACACACAGAGA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36188631	CACACACA others(9): Show CACACACACACAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0211 a0001c0002t0011g0211	1	236	0.0042	-16	c.102 others(33): Show c.1026+134_1026+149delCACACACACAGAGAGA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130857549	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	356	0.0028	-16	c.5+ others(29): Show c.5+566_*5+581delAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130867960	ACACACAC others(9): Show ACACACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG02040.hp1 others(30): Show HG00423.hp2 HG00597.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG03942.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18954.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp2 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA19001.hp2 NA19007.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19077.hp1 NA19080.hp1 NA19087.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0019 a0008c0011 a0001c0001 a0006c0019 a0008c0011	a0001c0001t0001 a0006c0019t0001 a0008c0011t0001 a0001c0001t0001 a0006c0019t0001 a0008c0011t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(30): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0246 a0006c0019t0001g0053 a0008c0011t0001g0040	33	356	0.0927	-16	c.260 others(33): Show c.2608-395_2608-380delAGAGTGTGTGTGTGTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	15/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	356	0.0028	-16	c.705 others(33): Show c.705+1049_705+1064delAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131023740	TATATATC others(9): Show TATATATCTATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00609.hp2 others(43): Show HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00741.hp1 HG01496.hp1 HG01515.hp1 HG01952.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02602.hp2 HG03017.hp1 HG03710.hp2 HG03927.hp2 NA18942.hp2 NA18947.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18963.hp2 NA18973.hp1 NA18978.hp1 NA18981.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA21309.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0016 a0001c0001 a0003c0004 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0003c0004t0001 a0007c0016t0001	a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 others(43): Show a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0251 a0001c0001t0011g0288 a0003c0004t0001g0262 a0007c0016t0001g0286	46	356	0.1292	-16	c.-15 others(35): Show c.-15+39399_-15+39414delCTATATATAGATATAT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131023748	TATATATA others(9): Show TATATATAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01070.hp2 others(36): Show HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01884.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03688.hp2 HG04184.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0004 a0012c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0006 a0001c0003t0014 a0003c0004t0001 a0012c0018t0001	a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0327 others(36): Show a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0352 a0001c0001t0002g0328 a0001c0001t0002g0335 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0002t0001g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0002g0326 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0003t0006g0128 a0001c0003t0014g0127 a0003c0004t0001g0350 a0003c0004t0001g0351 a0012c0018t0001g0353	39	356	0.1096	-16	c.-15 others(35): Show c.-15+39391_-15+39406delCTATATATCTATATAT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5469446	CATGCCTG others(9): Show CATGCCTGGCTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp1 HG01361.hp1 others(58): Show HG00558.hp2 HG01175.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0020 others(3): Show a0001c0001 a0001c0002 a0001c0020 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0020t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0003c0004t0005 a0004c0006t0002	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0045 others(58): Show a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0086 a0001c0001t0002g0123 a0001c0001t0003g0122 a0001c0001t0006g0091 a0001c0001t0008g0063 a0001c0001t0008g0193 a0001c0001t0009g0001 a0001c0002t0002g0029 a0001c0002t0002g0039 a0001c0002t0002g0053 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0222 a0001c0002t0003g0142 a0001c0020t0001g0198 a0002c0003t0001g0102 a0002c0003t0002g0108 a0002c0003t0006g0112 a0003c0004t0005g0107 a0004c0006t0002g0092	61	222	0.2748	-16	c.381 others(33): Show c.381+8779_381+8794delACACACAGCCAGGCAT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	3/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5484086	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	222	0.0045	-16	c.183 others(33): Show c.183+4899_183+4914delTTTTTTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	2/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03688.hp2 HG03942.hp2 others(1): Show HG03239.hp1 HG03688.hp2 HG03942.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0157 a0001c0002t0002g0012 a0001c0002t0002g0022 others(1): Show a0001c0001t0005g0157 a0001c0002t0002g0012 a0001c0002t0002g0022 a0001c0002t0002g0023	4	228	0.0175	-16	c.100 others(33): Show c.100-7031_100-7016delTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112314523	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	228	0.0044	-16	c.100 others(33): Show c.100-7049_100-7034delCTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112328384	GAAAGATT others(9): Show GAAAGATTATTACAAAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00738.hp1 others(67): Show HG00323.hp1 HG00642.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19087.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0012 a0016 a0017	a0001c0001 a0001c0002 a0002c0003 others(14): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007 a0002c0008 a0003c0004 a0003c0005 a0004c0010 a0004c0011 a0004c0014 a0006c0012 a0006c0016 a0007c0017 a0008c0009 a0012c0024 a0016c0019 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 a0001c0002t0031 a0002c0003t0003 a0002c0003t0012 a0002c0003t0019 a0002c0003t0026 a0002c0003t0044 a0002c0007t0002 a0002c0007t0030 a0002c0008t0001 a0002c0008t0016 a0002c0008t0021 a0003c0004t0004 a0003c0004t0023 a0003c0005t0009 a0003c0005t0013 a0004c0010t0011 a0004c0011t0001 a0004c0014t0011 a0006c0012t0015 a0006c0016t0001 a0007c0017t0002 a0008c0009t0010 a0008c0009t0023 a0012c0024t0033 a0016c0019t0010 a0017c0030t0001	a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0002g0001 others(66): Show a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0003g0219 a0001c0001t0006g0013 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0016g0044 a0001c0001t0017g0004 a0001c0001t0017g0048 a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0028g0014 a0001c0001t0029g0005 a0001c0001t0040g0137 a0001c0002t0001g0216 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0015g0046 a0001c0002t0031g0059 a0002c0003t0003g0096 a0002c0003t0012g0215 a0002c0003t0012g0218 a0002c0003t0012g0221 a0002c0003t0019g0073 a0002c0003t0026g0003 a0002c0003t0044g0220 a0002c0007t0002g0052 a0002c0007t0030g0053 a0002c0008t0001g0132 a0002c0008t0001g0214 a0002c0008t0016g0057 a0002c0008t0021g0078 a0003c0004t0004g0217 a0003c0004t0023g0151 a0003c0005t0009g0025 a0003c0005t0009g0026 a0003c0005t0009g0030 a0003c0005t0009g0033 a0003c0005t0009g0034 a0003c0005t0009g0035 a0003c0005t0013g0027 a0003c0005t0013g0028 a0003c0005t0013g0032 a0004c0010t0011g0071 a0004c0010t0011g0072 a0004c0010t0011g0080 a0004c0011t0001g0152 a0004c0011t0001g0153 a0004c0014t0011g0069 a0004c0014t0011g0070 a0006c0012t0015g0045 a0006c0016t0001g0130 a0007c0017t0002g0029 a0008c0009t0010g0049 a0008c0009t0010g0050 a0008c0009t0023g0202 a0012c0024t0033g0074 a0016c0019t0010g0011 a0017c0030t0001g0188	70	228	0.3070	-16	c.100 others(35): Show c.100-20910_100-20895delATTTGTAATAATCTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112380783	TCACACAC others(9): Show TCACACACATACACACA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03669.hp1 HG00323.hp2 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0223 a0001c0002t0025g0224 a0001c0002t0025g0223 a0001c0002t0025g0224	2	228	0.0088	-16	c.99+ others(33): Show c.99+38142_99+38157delTGTGTGTATGTGTGTG	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112400325	GGATTACA others(9): Show GGATTACAATTCGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02155.hp2 HG03209.hp1 others(11): Show HG02145.hp1 HG02155.hp2 HG03209.hp1 HG03225.hp1 HG03688.hp1 HG03834.hp2 NA18906.hp2 NA18960.hp1 NA19003.hp1 NA19030.hp1 NA19057.hp1 NA19081.hp2 NA19087.hp2 NA19240.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0002c0008 others(1): Show a0001c0001 a0001c0002 a0002c0008 a0012c0024	a0001c0001t0002 a0001c0001t0027 a0001c0001t0051 others(4): Show a0001c0001t0002 a0001c0001t0027 a0001c0001t0051 a0001c0002t0002 a0001c0002t0031 a0002c0008t0016 a0012c0024t0033	a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 others(11): Show a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0027g0064 a0001c0001t0051g0226 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0031g0059 a0002c0008t0016g0057 a0012c0024t0033g0074	14	228	0.0614	-16	c.99+ others(33): Show c.99+18600_99+18615delACCTCGAATTGTAATC	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112408703	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp2 HG02723.hp1 others(2): Show HG00741.hp1 HG02559.hp2 HG02723.hp1 HG03579.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0006 a0001c0001t0020 a0004c0010t0011 a0001c0001t0006 a0001c0001t0020 a0004c0010t0011	a0001c0001t0006g0040 a0001c0001t0020g0002 a0004c0010t0011g0071 others(1): Show a0001c0001t0006g0040 a0001c0001t0020g0002 a0004c0010t0011g0071 a0004c0010t0011g0080	5	228	0.0219	-16	c.99+ others(33): Show c.99+10222_99+10237delCTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109175468	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19067.hp1 HG00544.hp2 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0261 a0002c0003t0007g0266 a0002c0003t0007g0261 a0002c0003t0007g0266	2	318	0.0063	-16	c.263 others(33): Show c.2634-861_2634-846delGTGTGTGTGTGTGTGT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	25/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109176040	TCACACAC others(9): Show TCACACACACGCACACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0070 a0002c0003t0070	a0002c0003t0070g0298 a0002c0003t0070g0298	1	318	0.0031	-16	c.263 others(33): Show c.2633+495_2633+510delTGTGTGCGTGTGTGTG	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	25/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109276154	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00733.hp1 others(46): Show HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02080.hp2 HG02132.hp1 HG02257.hp2 HG02280.hp1 HG02602.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03710.hp2 HG06807.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18964.hp2 NA18974.hp1 NA18982.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA19007.hp1 NA19043.hp2 NA19062.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0030 a0001c0001t0033 a0001c0001t0046 a0001c0001t0047 a0001c0001t0062 a0001c0001t0067 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0019 a0001c0002t0022 a0001c0002t0024 a0001c0002t0041 a0001c0004t0002 a0001c0004t0014 a0001c0004t0052 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0073 a0002c0005t0009 a0002c0005t0025 a0003c0007t0023	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0066 others(46): Show a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0002g0157 a0001c0001t0002g0179 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0286 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0011g0036 a0001c0001t0013g0239 a0001c0001t0030g0156 a0001c0001t0033g0232 a0001c0001t0046g0039 a0001c0001t0047g0202 a0001c0001t0062g0234 a0001c0001t0067g0253 a0001c0002t0001g0083 a0001c0002t0003g0249 a0001c0002t0005g0205 a0001c0002t0010g0065 a0001c0002t0010g0068 a0001c0002t0012g0209 a0001c0002t0019g0256 a0001c0002t0022g0069 a0001c0002t0024g0229 a0001c0002t0024g0230 a0001c0002t0041g0010 a0001c0004t0002g0129 a0001c0004t0002g0178 a0001c0004t0014g0260 a0001c0004t0052g0148 a0002c0003t0006g0131 a0002c0003t0006g0147 a0002c0003t0007g0285 a0002c0003t0008g0098 a0002c0003t0073g0315 a0002c0005t0009g0132 a0002c0005t0009g0155 a0002c0005t0009g0158 a0002c0005t0025g0252 a0003c0007t0023g0218 a0003c0007t0023g0219	49	318	0.1541	-16	c.411 others(33): Show c.411+3647_411+3662delGTGTGTGTGTGTGTGT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	2/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109323476	TCTCCCTC others(9): Show TCTCCCTCCCTCCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0003 a0001c0002t0038g0003	1	318	0.0031	-16	c.-30 others(27): Show c.-3046_-3031delGGAGGGAGGGAGGGAG	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding		2418		chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120069128	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02922.hp2 HG01175.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0095 a0001c0001t0002g0019 a0001c0001t0002g0095	2	278	0.0072	-16	c.286 others(33): Show c.286-4026_286-4011delAAAAAAAAAAAAAAAA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L5_chr2_120008077_120184119	120092008	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0207 a0002c0002t0018g0207	1	278	0.0036	-16	c.115 others(33): Show c.1150+371_1150+386delATTTATTTATTTATTT	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L5_chr2_120008077_120184119	120165967	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02922.hp2 HG01175.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0095 a0001c0001t0002g0019 a0001c0001t0002g0095	2	278	0.0072	-16	c.196 others(35): Show c.1962+1069_1962+1084delAAAAAAAAAAAAAAAA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28947408	GACAAACA others(9): Show GACAAACAAACAAACAA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	312	0.0032	-16	c.-8+ others(33): Show c.-8+32667_-8+32682delAAACAAACAAACAAAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28990321	TTCCTTCC others(9): Show TTCCTTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0154 a0001c0003t0002g0154	1	312	0.0032	-16	c.468 others(33): Show c.468+2420_468+2435delTTCCTTCCTTCCCTCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPCAM_chr2_47364311_47392020	47365478	TTATATAT others(9): Show TTATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	2	450	0.0044	-16	c.-40 others(27): Show c.-4027_-4012delTATATATATATATATA	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3832		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365520	ATATATAT others(9): Show ATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	450	0.0022	-16	c.-39 others(27): Show c.-3985_-3970delTATATATATATATATT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3790		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365522	ATATATAT others(9): Show ATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18987.hp1 NA19064.hp1 others(1): Show NA18950.hp1 NA18987.hp1 NA19064.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0124 a0003c0003t0001g0085 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0124 a0003c0003t0001g0085 a0003c0003t0001g0087	4	450	0.0089	-16	c.-39 others(27): Show c.-3983_-3968delTATATATATATATTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3788		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365526	ATATATAT others(9): Show ATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0345 a0001c0001t0003g0345	1	450	0.0022	-16	c.-39 others(27): Show c.-3979_-3964delTATATATATTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3784		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365528	ATATATAT others(9): Show ATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	450	0.0022	-16	c.-39 others(27): Show c.-3977_-3962delTATATATTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3782		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47383607	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	450	0.0022	-16	c.859 others(33): Show c.859-1529_859-1514delTTTTTTTTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPDR1_chr7_37915640_37956936	37935993	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0375 a0005c0009t0004g0375	1	448	0.0022	-16	c.270 others(35): Show c.270-12815_270-12800delTATATATATATATATA	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPG5_chr18_45842609_45972329	45937235	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp2 HG03139.hp2 others(1): Show HG01496.hp1 HG02615.hp2 HG03139.hp2 NA20300.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0016c0022 a0002c0002 a0016c0022	a0002c0002t0030 a0002c0002t0031 a0016c0022t0020 others(1): Show a0002c0002t0030 a0002c0002t0031 a0016c0022t0020 a0016c0022t0021	a0002c0002t0030g0049 a0002c0002t0031g0048 a0016c0022t0020g0044 others(1): Show a0002c0002t0030g0049 a0002c0002t0031g0048 a0016c0022t0020g0044 a0016c0022t0021g0045	4	304	0.0132	-16	c.210 others(35): Show c.2100-2285_2100-2270delGTGTGTGTGTGTGTGT	EPG5	ENSG00000152223.16	transcript	ENST00000282041.11	protein_coding	10/43			chr18	TogoVar
EPHA10_chr1_37710976_37770120	37732863	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18987.hp2 HG03490.hp1 NA18987.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0002 a0006c0009t0003 a0001c0001t0002 a0006c0009t0003	a0001c0001t0002g0158 a0006c0009t0003g0045 a0001c0001t0002g0158 a0006c0009t0003g0045	2	382	0.0052	-16	c.149 others(35): Show c.1492-1297_1492-1282delAAAAAAAAAAAAAAAA	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	6/16			chr1	TogoVar
EPHA1_chr7_143386129_143413856	143400808	AGCTGGAG others(9): Show AGCTGGAGAGGTTAAAT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	426	0.0024	-16	c.432 others(31): Show c.432+500_432+515delATTTAACCTCTCCAGC	EPHA1	ENSG00000146904.9	transcript	ENST00000275815.4	protein_coding	3/17			chr7	TogoVar
EPHA3_chr3_89102621_89487134	89160546	TTTTGTGT others(9): Show TTTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02109.hp1 others(3): Show HG01109.hp2 HG01346.hp2 HG02109.hp1 HG02572.hp1 HG02647.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 others(1): Show a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0002c0002t0004	a0001c0001t0017g0152 a0001c0001t0020g0153 a0001c0001t0021g0158 others(3): Show a0001c0001t0017g0152 a0001c0001t0020g0153 a0001c0001t0021g0158 a0002c0002t0004g0151 a0002c0002t0004g0154 a0002c0002t0004g0155	6	200	0.0300	-16	c.153 others(35): Show c.153+33275_153+33290delTTGTGTGTGTGTGTGT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

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