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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ENOX1_chr13_43208130_43791972	43297830	GCTTCATG others(4): Show GCTTCATGTATT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG03209.hp2 others(1): Show HG02818.hp1 HG02922.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0020 a0001c0001t0004 a0001c0001t0011 a0001c0001t0020	a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0011g0165 others(1): Show a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0011g0165 a0001c0001t0020g0007	4	188	0.0213	-11	c.144 others(28): Show c.1446+505_1446+515delAATACATGAAG	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	12/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43460820	AAAAAAAA others(4): Show AAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	188	0.0053	-11	c.-75 others(30): Show c.-75+23178_-75+23188delATTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43541173	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0056 a0001c0002t0001g0057	2	188	0.0106	-11	c.-21 others(32): Show c.-218-57032_-218-57022delAAAAAAAAAAA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43756473	GAGGGGAG others(4): Show GAGGGGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18954.hp2 NA18962.hp1 others(1): Show HG02965.hp2 NA18954.hp2 NA18962.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0094 a0001c0002t0006g0174 a0001c0002t0006g0175 others(1): Show a0001c0002t0001g0094 a0001c0002t0006g0174 a0001c0002t0006g0175 a0001c0002t0006g0176	4	188	0.0213	-11	c.-28 others(32): Show c.-285+30168_-285+30178delTCCCCTCCCCT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENOX2_chrX_130617325_130908209	130682583	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18522.hp1 HG02071.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0106 a0001c0001t0009g0003 a0001c0001t0001g0106 a0001c0001t0009g0003	2	154	0.0130	-11	c.254 others(28): Show c.254-2846_254-2836delTTTTTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	5/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130742245	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18612.hp1 NA18952.hp1 others(11): Show HG02015.hp1 NA18612.hp1 NA18952.hp1 NA18955.hp1 NA18967.hp1 NA18971.hp1 NA18984.hp1 NA18988.hp1 NA18994.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19079.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 others(11): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0120	14	154	0.0909	-11	c.-38 others(30): Show c.-38-39002_-38-38992delAAAAAAAAAAA	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	3/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130760785	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	154	0.0065	-11	c.-39 others(30): Show c.-39+22751_-39+22761delTTTTTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	3/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130867001	ATAACTAT others(4): Show ATAACTATGACT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	154	0.0065	-11	c.-18 others(32): Show c.-183+34672_-183+34682delAGTCATAGTTA	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	2/14			chrX	TogoVar
ENPEP_chr4_110471155_110570285	110548139	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0142 a0001c0001t0027g0142	1	312	0.0032	-11	c.200 others(26): Show c.2001-22_2001-12delTTTTTTTTTTT	ENPEP	ENSG00000138792.10	transcript	ENST00000265162.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
ENPEP_chr4_110471155_110570285	110556475	CAATGTGT others(4): Show CAATGTGTACAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG00673.hp1 others(69): Show HG00544.hp2 HG00642.hp2 HG00673.hp1 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02970.hp1 HG03017.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18952.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18994.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp2 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19081.hp2 NA19088.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0015	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0016 a0003c0003t0002 a0004c0004t0002 a0015c0017t0002	a0001c0001t0001g0116 a0001c0001t0002g0004 a0001c0001t0002g0061 others(61): Show a0001c0001t0001g0116 a0001c0001t0002g0004 a0001c0001t0002g0061 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0234 a0001c0001t0015g0059 a0001c0001t0015g0110 a0002c0002t0001g0079 a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0038 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0094 a0002c0002t0002g0101 a0002c0002t0002g0147 a0002c0002t0002g0152 a0002c0002t0002g0168 a0002c0002t0002g0251 a0002c0002t0002g0266 a0002c0002t0016g0009 a0003c0003t0002g0021 a0003c0003t0002g0235 a0003c0003t0002g0238 a0003c0003t0002g0250 a0003c0003t0002g0252 a0003c0003t0002g0256 a0003c0003t0002g0258 a0003c0003t0002g0260 a0003c0003t0002g0262 a0003c0003t0002g0263 a0003c0003t0002g0279 a0003c0003t0002g0282 a0004c0004t0002g0019 a0004c0004t0002g0020 a0004c0004t0002g0267 a0004c0004t0002g0270 a0004c0004t0002g0271 a0015c0017t0002g0229	72	312	0.2308	-11	c.264 others(30): Show c.2642+3022_2642+3032delATGTGTACATA	ENPEP	ENSG00000138792.10	transcript	ENST00000265162.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
ENPP1_chr6_131803020_131900155	131893949	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0080 a0002c0002t0080	a0002c0002t0080g0284 a0002c0002t0080g0284	1	292	0.0034	-11	c.34 others(22): Show c.3458_*3468delTTTTTTTTTTT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	25/25	3458	INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP2_chr8_119552086_119643839	119592825	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG03139.hp1 others(2): Show HG01109.hp2 HG02145.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0005 a0002c0007t0001 a0002c0007t0005	a0002c0007t0001g0318 a0002c0007t0001g0322 a0002c0007t0001g0323 others(2): Show a0002c0007t0001g0318 a0002c0007t0001g0322 a0002c0007t0001g0323 a0002c0007t0001g0324 a0002c0007t0005g0278	5	340	0.0147	-11	c.108 others(28): Show c.1081+916_1081+926delAAAAAAAAAAA	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	12/24			chr8	TogoVar
ENPP3_chr6_131632302_131752410	131654350	AGACTGGA others(4): Show AGACTGGACTCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01106.hp1 others(8): Show HG00099.hp1 HG00642.hp2 HG01106.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG03195.hp2 HG03490.hp2 NA19030.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0019 others(2): Show a0001c0001 a0001c0002 a0001c0019 a0002c0006 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0019t0001 a0002c0006t0002 a0005c0007t0002	a0001c0001t0001g0024 a0001c0002t0001g0015 a0001c0002t0001g0016 others(8): Show a0001c0001t0001g0024 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0002g0023 a0001c0019t0001g0014 a0002c0006t0002g0017 a0005c0007t0002g0269	11	278	0.0396	-11	c.464 others(28): Show c.464+1460_464+1470delGACTGGACTCG	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	5/24			chr6	TogoVar
ENPP3_chr6_131632302_131752410	131694855	AAGGAAAG others(4): Show AAGGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01106.hp1 others(13): Show HG00099.hp1 HG00642.hp2 HG01106.hp1 HG02451.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG03098.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp2 HG06807.hp1 NA19030.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0011	a0001c0002 a0001c0019 a0002c0006 others(4): Show a0001c0002 a0001c0019 a0002c0006 a0003c0008 a0005c0007 a0008c0016 a0011c0015	a0001c0002t0001 a0001c0002t0002 a0001c0019t0001 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0019t0001 a0002c0006t0002 a0003c0008t0002 a0005c0007t0002 a0008c0016t0002 a0011c0015t0001	a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 others(13): Show a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0120 a0001c0002t0002g0023 a0001c0019t0001g0014 a0002c0006t0002g0017 a0003c0008t0002g0080 a0003c0008t0002g0081 a0003c0008t0002g0095 a0005c0007t0002g0269 a0008c0016t0002g0029 a0011c0015t0001g0094	16	278	0.0576	-11	c.141 others(30): Show c.1412+1232_1412+1242delAGGAAAGAAAG	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24			chr6	TogoVar
ENPP6_chr4_184083706_184222873	184113896	TTCTTTTC others(4): Show TTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0134 a0002c0001t0001g0134	1	320	0.0031	-11	c.856 others(28): Show c.856-1098_856-1088delGAAAGAAAAGA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	5/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131190	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19065.hp1 NA19065.hp2 HG03704.hp2 NA19065.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0259 a0002c0001t0001g0156 a0002c0001t0001g0215 a0001c0002t0002g0259 a0002c0001t0001g0156 a0002c0001t0001g0215	3	320	0.0094	-11	c.422 others(28): Show c.422-6929_422-6919delGAAAGAAAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131939	GTAATTCA others(4): Show GTAATTCAGTCC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02300.hp2 HG02723.hp1 others(7): Show HG01975.hp1 HG02300.hp2 HG02723.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 NA19240.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0006 a0001c0002 a0001c0003 a0004c0006	a0001c0002t0001 a0001c0002t0013 a0001c0003t0003 others(3): Show a0001c0002t0001 a0001c0002t0013 a0001c0003t0003 a0001c0003t0014 a0001c0003t0017 a0004c0006t0014	a0001c0002t0001g0128 a0001c0002t0013g0021 a0001c0002t0013g0043 others(7): Show a0001c0002t0001g0128 a0001c0002t0013g0021 a0001c0002t0013g0043 a0001c0003t0003g0024 a0001c0003t0003g0114 a0001c0003t0003g0121 a0001c0003t0003g0130 a0001c0003t0014g0167 a0001c0003t0017g0165 a0004c0006t0014g0244	10	320	0.0313	-11	c.422 others(28): Show c.422-7678_422-7668delGGACTGAATTA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01167.hp2 others(13): Show HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG02723.hp2 HG02965.hp1 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18989.hp1 NA19063.hp1 NA19070.hp2 NA19077.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0011	a0001c0002 a0001c0003 a0001c0006 others(5): Show a0001c0002 a0001c0003 a0001c0006 a0002c0001 a0002c0031 a0003c0005 a0009c0022 a0011c0033	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0002c0001t0001 a0002c0001t0002 a0002c0031t0001 a0003c0005t0001 a0009c0022t0001 a0011c0033t0001	a0001c0002t0001g0013 a0001c0002t0001g0093 a0001c0002t0001g0095 others(12): Show a0001c0002t0001g0013 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0193 a0001c0003t0001g0006 a0001c0003t0001g0181 a0001c0003t0002g0237 a0001c0006t0001g0243 a0002c0001t0001g0156 a0002c0001t0002g0101 a0002c0001t0002g0105 a0002c0031t0001g0099 a0003c0005t0001g0047 a0009c0022t0001g0188 a0011c0033t0001g0159	16	430	0.0372	-11	c.44 others(22): Show c.4419_*4429delAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENPP7_chr17_79725943_79747219	79746238	AAAACAGA others(4): Show AAAACAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18983.hp1 HG02165.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0081 a0002c0001t0001g0166 a0001c0003t0001g0081 a0002c0001t0001g0166	2	430	0.0047	-11	c.44 others(22): Show c.4462_*4472delAAACAGAAAAG	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		4020		chr17	TogoVar
ENSA_chr1_150617125_150634612	150631474	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02027.hp1 HG02129.hp1 others(4): Show HG00597.hp1 HG02027.hp1 HG02129.hp1 NA18967.hp1 NA18975.hp1 NA19003.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	7	422	0.0166	-11	c.-20 others(22): Show c.-2015_-2005delAAAAAAAAAAA	ENSA	ENSG00000143420.19	transcript	ENST00000369014.10	protein_coding		1863		chr1	TogoVar
ENTHD1_chr22_39738044_39898760	39742108	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19085.hp1 NA19043.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0146 a0001c0001t0001g0044 a0001c0001t0001g0146	2	218	0.0092	-11	c.15 others(22): Show c.1560_*1570delTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding		935		chr22	TogoVar
ENTPD1_chr10_95751163_95882266	95758002	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp1 HG02976.hp2 others(2): Show HG02630.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0307 a0001c0001t0013g0308 others(1): Show a0001c0001t0013g0015 a0001c0001t0013g0307 a0001c0001t0013g0308 a0001c0001t0013g0309	5	340	0.0147	-11	c.16+ others(26): Show c.16+1765_16+1775delAAAAAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95760814	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp1 HG02293.hp2 others(6): Show HG00735.hp2 HG01255.hp1 HG02293.hp2 HG02738.hp2 HG03041.hp1 NA18942.hp1 NA18946.hp1 NA18950.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 a0001c0001t0066 a0001c0002t0010	a0001c0001t0002g0063 a0001c0001t0002g0176 a0001c0001t0003g0109 others(6): Show a0001c0001t0002g0063 a0001c0001t0002g0176 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0025g0024 a0001c0001t0066g0035 a0001c0002t0010g0148	9	340	0.0265	-11	c.16+ others(26): Show c.16+4582_16+4592delTTTTTTTTTTT	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD5_chr14_73958230_74024288	74001666	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG00673.hp1 others(75): Show HG00408.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG02055.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02486.hp1 HG02523.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18975.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19058.hp1 NA19065.hp2 NA19075.hp2 NA19078.hp1 NA19079.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 others(8): Show a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0020 a0001c0002t0027 a0001c0002t0037 a0001c0005t0002	a0001c0001t0004g0241 a0001c0001t0004g0256 a0001c0001t0004g0257 others(74): Show a0001c0001t0004g0241 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0348 a0001c0001t0004g0353 a0001c0001t0007g0313 a0001c0001t0007g0318 a0001c0002t0002g0098 a0001c0002t0002g0242 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0292 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0316 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0325 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0354 a0001c0002t0002g0355 a0001c0002t0003g0103 a0001c0002t0003g0117 a0001c0002t0003g0123 a0001c0002t0005g0024 a0001c0002t0005g0034 a0001c0002t0008g0054 a0001c0002t0008g0055 a0001c0002t0008g0056 a0001c0002t0008g0339 a0001c0002t0008g0340 a0001c0002t0008g0342 a0001c0002t0008g0343 a0001c0002t0008g0345 a0001c0002t0008g0362 a0001c0002t0010g0015 a0001c0002t0010g0220 a0001c0002t0010g0221 a0001c0002t0010g0222 a0001c0002t0010g0223 a0001c0002t0010g0224 a0001c0002t0020g0289 a0001c0002t0020g0290 a0001c0002t0027g0317 a0001c0002t0037g0097 a0001c0005t0002g0346 a0001c0005t0002g0347	78	380	0.2053	-11	c.-71 others(28): Show c.-71+9414_-71+9424delTTTTTTTTTTT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
ENTPD5_chr14_73958230_74024288	74009591	TCCTTCTA others(4): Show TCCTTCTAAATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG02818.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0025 a0001c0001t0023 a0001c0001t0025	a0001c0001t0023g0129 a0001c0001t0025g0130 a0001c0001t0023g0129 a0001c0001t0025g0130	2	380	0.0053	-11	c.-71 others(28): Show c.-71+1489_-71+1499delTATTTAGAAGG	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
ENTPD5_chr14_73958230_74024288	74019528	ACACGAAG others(4): Show ACACGAAGTAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	380	0.0026	-11	c.-52 others(20): Show c.-527_-517delCTTACTTCGTG	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding		241		chr14	TogoVar
ENTR1_chr9_136396922_136415614	136410511	CCCGCCGC others(4): Show CCCGCCGCTCGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00609.hp1 NA18981.hp2 HG00597.hp2 HG00609.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0222 a0001c0001t0009g0050 a0001c0001t0009g0222	3	412	0.0073	-11	c.-12 others(20): Show c.-125_-115delCCGAGCGGCGG	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	1/10	115		chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69329872	ACTAGGTT others(4): Show ACTAGGTTCCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0009 a0001c0001 a0001c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0005c0009t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(209): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0006g0126 a0001c0001t0007g0181 a0001c0001t0008g0101 a0001c0003t0001g0317 a0001c0003t0001g0318 a0005c0009t0001g0110	223	342	0.6521	-11	c.414 others(28): Show c.414+4150_414+4160delCTAGGTTCCAC	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10			chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69343807	GTTGGGAG others(4): Show GTTGGGAGATAA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	342	0.0029	-11	c.471 others(28): Show c.471+7539_471+7549delTTGGGAGATAA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10			chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29212071	ATCTGGTA others(4): Show ATCTGGTAGAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG03486.hp2 HG02055.hp1 HG02258.hp2 HG03486.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0002c0004 a0003c0023 a0001c0008 a0002c0004 a0003c0023	a0001c0008t0036 a0002c0004t0015 a0003c0023t0022 a0001c0008t0036 a0002c0004t0015 a0003c0023t0022	a0001c0008t0036g0045 a0002c0004t0015g0007 a0003c0023t0022g0030 a0001c0008t0036g0045 a0002c0004t0015g0007 a0003c0023t0022g0030	3	125	0.0240	-11	c.388 others(30): Show c.388-15518_388-15508delATTCTACCAGA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29356285	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0088 a0001c0010t0001g0088	1	125	0.0080	-11	c.276 others(30): Show c.276+25479_276+25489delTATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29356292	ATATATTT others(4): Show ATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03486.hp2 HG06807.hp1 HG02145.hp1 HG03486.hp2 HG06807.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0002c0005 a0005c0035 a0002c0004 a0002c0005 a0005c0035	a0002c0004t0015 a0002c0005t0003 a0005c0035t0019 a0002c0004t0015 a0002c0005t0003 a0005c0035t0019	a0002c0004t0015g0007 a0002c0005t0003g0076 a0005c0035t0019g0006 a0002c0004t0015g0007 a0002c0005t0003g0076 a0005c0035t0019g0006	3	125	0.0240	-11	c.276 others(30): Show c.276+25472_276+25482delAAAAAAATATA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29356294	ATATTTTT others(4): Show ATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp2 HG02818.hp1 others(7): Show HG01496.hp1 HG02486.hp2 HG02818.hp1 HG02818.hp2 HG03130.hp2 HG03540.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0002 a0001c0008 a0002c0003 others(5): Show a0001c0002 a0001c0008 a0002c0003 a0002c0009 a0003c0006 a0003c0007 a0005c0038 a0007c0028	a0001c0002t0001 a0001c0008t0007 a0002c0003t0034 others(7): Show a0001c0002t0001 a0001c0008t0007 a0002c0003t0034 a0002c0009t0003 a0003c0006t0002 a0003c0006t0039 a0003c0007t0002 a0003c0007t0042 a0005c0038t0006 a0007c0028t0017	a0001c0002t0001g0082 a0001c0008t0007g0039 a0002c0003t0034g0059 others(7): Show a0001c0002t0001g0082 a0001c0008t0007g0039 a0002c0003t0034g0059 a0002c0009t0003g0050 a0003c0006t0002g0065 a0003c0006t0039g0105 a0003c0007t0002g0087 a0003c0007t0042g0038 a0005c0038t0006g0117 a0007c0028t0017g0089	10	125	0.0800	-11	c.276 others(30): Show c.276+25470_276+25480delAAAAAAAAATA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29356296	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02717.hp1 HG02155.hp2 HG02717.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0018 a0001c0001 a0005c0018	a0001c0001t0004 a0005c0018t0006 a0001c0001t0004 a0005c0018t0006	a0001c0001t0004g0022 a0005c0018t0006g0110 a0001c0001t0004g0022 a0005c0018t0006g0110	2	125	0.0160	-11	c.276 others(30): Show c.276+25468_276+25478delAAAAAAAAAAA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29394878	ATCTCTTT others(4): Show ATCTCTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00642.hp2 others(5): Show HG00099.hp2 HG00558.hp2 HG00642.hp2 HG01257.hp2 HG03486.hp1 HG06807.hp1 NA19009.hp1 NA20905.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0039 a0004c0013 others(3): Show a0001c0001 a0001c0039 a0004c0013 a0004c0020 a0005c0016 a0005c0035	a0001c0001t0001 a0001c0001t0004 a0001c0039t0038 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0039t0038 a0004c0013t0001 a0004c0020t0008 a0004c0020t0033 a0005c0016t0006 a0005c0035t0019	a0001c0001t0001g0102 a0001c0001t0004g0026 a0001c0039t0038g0049 others(5): Show a0001c0001t0001g0102 a0001c0001t0004g0026 a0001c0039t0038g0049 a0004c0013t0001g0118 a0004c0020t0008g0009 a0004c0020t0033g0071 a0005c0016t0006g0032 a0005c0035t0019g0006	8	125	0.0640	-11	c.220 others(30): Show c.220-13058_220-13048delAAAAAAAGAGA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29523561	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0063 a0002c0003t0005g0063	1	125	0.0080	-11	c.219 others(30): Show c.219+46933_219+46943delAAAAAAAAAAA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29546893	AAAAACAA others(4): Show AAAAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00642.hp2 others(37): Show HG00099.hp1 HG00099.hp2 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18983.hp1 NA18990.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0008 others(20): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0019 a0001c0024 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0021 a0002c0031 a0003c0006 a0003c0007 a0003c0014 a0003c0030 a0003c0034 a0004c0013 a0004c0020 a0005c0016 a0005c0018 a0007c0028	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(29): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0016 a0001c0002t0043 a0001c0008t0007 a0001c0010t0001 a0001c0011t0010 a0001c0019t0001 a0001c0024t0010 a0002c0003t0034 a0002c0004t0003 a0002c0004t0037 a0002c0004t0048 a0002c0005t0005 a0002c0009t0003 a0002c0021t0003 a0002c0031t0040 a0003c0006t0001 a0003c0006t0002 a0003c0006t0039 a0003c0006t0046 a0003c0007t0002 a0003c0007t0050 a0003c0014t0002 a0003c0030t0047 a0003c0034t0002 a0004c0013t0001 a0004c0020t0033 a0005c0016t0006 a0005c0018t0006 a0007c0028t0017	a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0098 others(37): Show a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0002t0001g0082 a0001c0002t0004g0002 a0001c0002t0016g0012 a0001c0002t0043g0113 a0001c0008t0007g0064 a0001c0008t0007g0115 a0001c0010t0001g0088 a0001c0011t0010g0053 a0001c0019t0001g0033 a0001c0024t0010g0062 a0002c0003t0034g0059 a0002c0004t0003g0052 a0002c0004t0037g0066 a0002c0004t0048g0122 a0002c0005t0005g0057 a0002c0005t0005g0095 a0002c0005t0005g0100 a0002c0009t0003g0044 a0002c0021t0003g0085 a0002c0021t0003g0086 a0002c0031t0040g0080 a0003c0006t0001g0108 a0003c0006t0002g0065 a0003c0006t0002g0081 a0003c0006t0039g0105 a0003c0006t0046g0037 a0003c0007t0002g0087 a0003c0007t0050g0125 a0003c0014t0002g0103 a0003c0030t0047g0120 a0003c0034t0002g0046 a0004c0013t0001g0118 a0004c0020t0033g0071 a0005c0016t0006g0032 a0005c0018t0006g0084 a0007c0028t0017g0089	40	125	0.3200	-11	c.219 others(30): Show c.219+23601_219+23611delGTTGTTGTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29551803	CAAGAAGC others(4): Show CAAGAAGCAAGG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02886.hp1 others(4): Show HG02257.hp1 HG02258.hp1 HG02886.hp1 HG03098.hp2 HG03540.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0010 a0002c0009 a0003c0006 others(2): Show a0001c0010 a0002c0009 a0003c0006 a0003c0014 a0007c0028	a0001c0010t0001 a0002c0009t0003 a0003c0006t0001 others(3): Show a0001c0010t0001 a0002c0009t0003 a0003c0006t0001 a0003c0006t0002 a0003c0014t0002 a0007c0028t0017	a0001c0010t0001g0088 a0002c0009t0003g0044 a0003c0006t0001g0108 others(4): Show a0001c0010t0001g0088 a0002c0009t0003g0044 a0003c0006t0001g0108 a0003c0006t0002g0065 a0003c0014t0002g0067 a0003c0014t0002g0103 a0007c0028t0017g0089	7	125	0.0560	-11	c.219 others(30): Show c.219+18691_219+18701delCCTTGCTTCTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29568710	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0050 a0003c0007t0050	a0003c0007t0050g0125 a0003c0007t0050g0125	1	125	0.0080	-11	c.219 others(28): Show c.219+1784_219+1794delTTTTTTTTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
EOLA2_chrX_149927197_149943491	149927570	ATGGAAGA others(4): Show ATGGAAGAGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	331	0.0030	-11	c.49 others(22): Show c.4963_*4973delCTTCTCTTCCA	EOLA2	ENSG00000197021.9	transcript	ENST00000370406.8	protein_coding		4626		chrX	TogoVar
EP300_chr22_41087592_41185077	41119172	ATTATTTT others(4): Show ATTATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0203 a0003c0008t0005g0203	1	300	0.0033	-11	c.729 others(28): Show c.729+1354_729+1364delATTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41133599	AGCATTTC others(4): Show AGCATTTCCCTT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0002 a0007c0015t0002	a0007c0015t0002g0024 a0007c0015t0002g0024	1	300	0.0033	-11	c.152 others(30): Show c.1528+1968_1528+1978delCATTTCCCTTG	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167814	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0150 a0002c0003t0013g0150	1	300	0.0033	-11	c.387 others(28): Show c.3875-634_3875-624delTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30			chr22	TogoVar
EP400_chr12_131944942_132085460	132073919	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04199.hp1 HG02735.hp2 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0125 a0002c0001t0001g0129 a0002c0001t0001g0125 a0002c0001t0001g0129	2	208	0.0096	-11	c.902 others(30): Show c.9022-2580_9022-2570delTTTTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EPAS1_chr2_46292407_46391697	46359257	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	326	0.0031	-11	c.455 others(28): Show c.455-1367_455-1357delAAAAAAAAAAA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36188579	CCAACACA others(4): Show CCAACACACACA	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0048 a0001c0002t0003g0048	1	236	0.0042	-11	c.102 others(26): Show c.1026+83_1026+93delACACACACACA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130954036	CTTTCTTT others(4): Show CTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	356	0.0028	-11	c.705 others(28): Show c.705+1058_705+1068delAAAAAAAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	356	0.0028	-11	c.-14 others(30): Show c.-14-16449_-14-16439delTTTTTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5389994	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02896.hp1 others(4): Show HG02109.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03225.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0004 a0003c0010t0007	a0001c0001t0001g0096 a0001c0001t0002g0011 a0001c0002t0001g0026 others(4): Show a0001c0001t0001g0096 a0001c0001t0002g0011 a0001c0002t0001g0026 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0005t0004g0175 a0003c0010t0007g0074	7	222	0.0315	-11	c.34 others(22): Show c.3480_*3490delTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		2391		chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5391830	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02647.hp2 HG01106.hp1 HG01891.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0009 a0002c0003t0002g0174 a0002c0003t0002g0210 a0002c0003t0002g0009 a0002c0003t0002g0174 a0002c0003t0002g0210	3	222	0.0135	-11	c.16 others(22): Show c.1644_*1654delTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		555		chr18	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)