Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACTR1A_chr10_102474229_102507712	102489951	A A	ACTCCTCA others(18): Show ACTCCTCATTAAGATGGTAGAAGGGC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	388	0.0026	25	c.113 others(40): Show c.113+573_113+597dupGCCCTTCTACCATCTTAATGAGGAG	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	2/10			chr10	TogoVar
ACTR1A_chr10_102474229_102507712	102506636	C C	CCAAAGGC others(18): Show CCAAAGGCGACCAGCCATCGACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	388	0.0026	25	c.-39 others(36): Show c.-3990_-3989insAGAGGTCGATGGCTGGTCGCCTTTG	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding		3925		chr10	TogoVar
ACTR2_chr2_65222831_65276253	65267862	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0262 a0001c0001t0006g0262	1	326	0.0031	25	c.101 others(42): Show c.1015-698_1015-674dupTTTTTTTTTTTTTTTTTTTTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTRT3_chr3_169761921_169774561	169770630	A A	ATATATAA others(18): Show ATATATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00639.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	418	0.0048	25	c.-11 others(36): Show c.-1111_-1110insATATATAAATATAAATTTTTATATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1070		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770712	T T	TATATAAA others(18): Show TATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	418	0.0024	25	c.-11 others(36): Show c.-1193_-1192insGATATATAAATATAAATTTTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1152		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771269	T T	TATAAAAA others(18): Show TATAAAAATTTGTTTATATATAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	418	0.0024	25	c.-17 others(36): Show c.-1750_-1749insTTATTATATATAAACAAATTTTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1709		chr3	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02622.hp2 HG03471.hp1 HG02083.hp2 HG02622.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0108 a0001c0002t0002g0122 a0001c0002t0002g0034 a0001c0002t0002g0108 a0001c0002t0002g0122	3	272	0.0110	25	c.63- others(42): Show c.63-15926_63-15925insAAAAAAAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAL_chr15_43325672_43359569	43334664	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA19064.hp2 NA19075.hp2 HG01258.hp1 NA19064.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0003g0079 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0003g0079	3	386	0.0078	25	c.-16 others(42): Show c.-163-281_-163-280insATATATATATATATATATATATATA	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58620660	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0065 a0001c0001t0118g0065	1	342	0.0029	25	c.151 others(42): Show c.1511+810_1511+811insAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	11/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58726877	A A	AAGGGGAG others(18): Show AAGGGGAGGGGAGAGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp1 HG03041.hp2 HG02717.hp2 HG02886.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0119 a0001c0001t0002 a0001c0001t0119	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0119g0063 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0119g0063	3	342	0.0088	25	c.56- others(40): Show c.56-9175_56-9151dupCCCCTCCCCTCCTCTCCCCTCCCCT	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	1/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126082363	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0018 a0001c0002t0020g0018	1	252	0.0040	25	c.114 others(46): Show c.1146-10710_1146-10709insAAAAAAAAAAAAAAAAAAAAAAAA A	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0035 a0001c0002t0048g0035	1	252	0.0040	25	c.114 others(44): Show c.1145+7304_1145+7305insATATATATATATATATATTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19240.hp2 HG03017.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0001c0008 a0002c0001	a0001c0008t0002 a0002c0001t0018 a0001c0008t0002 a0002c0001t0018	a0001c0008t0002g0047 a0002c0001t0018g0008 a0001c0008t0002g0047 a0002c0001t0018g0008	2	252	0.0079	25	c.114 others(44): Show c.1145+7304_1145+7305insATATATATATATATATATATTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp1 HG01071.hp2 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0008 a0001c0004t0002 a0001c0002t0008 a0001c0004t0002	a0001c0002t0008g0201 a0001c0004t0002g0045 a0001c0002t0008g0201 a0001c0004t0002g0045	2	252	0.0079	25	c.114 others(44): Show c.1145+7304_1145+7305insATATATATATATATATATATATTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0050 a0002c0050	a0002c0050t0004 a0002c0050t0004	a0002c0050t0004g0221 a0002c0050t0004g0221	1	252	0.0040	25	c.114 others(44): Show c.1145+7304_1145+7305insATATATATATATATATATATATATT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121113	A A	ATATATAG others(18): Show ATATATAGTATATATAATATATATAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0151 a0001c0003t0003g0151	1	252	0.0040	25	c.417 others(42): Show c.417-2890_417-2889insCTATATATATTATATATACTATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121113	A A	ATATATAG others(18): Show ATATATAGTATATATAGTATATATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(75): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01517.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02129.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03710.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18951.hp2 NA18961.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19063.hp1 NA19074.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0009 a0011 a0012 a0014	a0001c0002 a0001c0003 a0001c0004 others(21): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0019 a0001c0020 a0001c0026 a0001c0031 a0001c0037 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0055 a0005c0025 a0009c0051 a0011c0030 a0012c0039 a0014c0040	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(46): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0025 a0001c0002t0038 a0001c0003t0003 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0016 a0001c0003t0034 a0001c0004t0017 a0001c0004t0022 a0001c0008t0002 a0001c0010t0001 a0001c0019t0018 a0001c0019t0044 a0001c0020t0021 a0001c0026t0001 a0001c0031t0002 a0001c0037t0011 a0002c0001t0001 a0002c0001t0005 a0002c0005t0003 a0002c0005t0007 a0002c0005t0009 a0002c0005t0010 a0002c0005t0012 a0002c0005t0030 a0002c0006t0001 a0002c0006t0002 a0002c0006t0008 a0002c0007t0002 a0002c0007t0005 a0002c0011t0010 a0002c0011t0013 a0002c0011t0033 a0002c0015t0004 a0002c0017t0002 a0002c0017t0020 a0002c0024t0012 a0002c0055t0013 a0005c0025t0024 a0009c0051t0003 a0011c0030t0001 a0012c0039t0004 a0014c0040t0001	a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0101 others(75): Show a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0101 a0001c0002t0001g0143 a0001c0002t0001g0185 a0001c0002t0001g0217 a0001c0002t0001g0220 a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0005g0251 a0001c0002t0006g0132 a0001c0002t0006g0172 a0001c0002t0006g0208 a0001c0002t0006g0213 a0001c0002t0006g0252 a0001c0002t0011g0191 a0001c0002t0025g0206 a0001c0002t0038g0159 a0001c0003t0003g0133 a0001c0003t0007g0033 a0001c0003t0007g0087 a0001c0003t0007g0148 a0001c0003t0010g0137 a0001c0003t0010g0140 a0001c0003t0012g0134 a0001c0003t0016g0048 a0001c0003t0034g0127 a0001c0004t0017g0131 a0001c0004t0022g0189 a0001c0008t0002g0047 a0001c0008t0002g0153 a0001c0010t0001g0216 a0001c0019t0018g0203 a0001c0019t0044g0182 a0001c0020t0021g0174 a0001c0026t0001g0075 a0001c0031t0002g0181 a0001c0037t0011g0043 a0002c0001t0001g0057 a0002c0001t0001g0107 a0002c0001t0001g0115 a0002c0001t0001g0124 a0002c0001t0001g0136 a0002c0001t0001g0144 a0002c0001t0001g0196 a0002c0001t0001g0223 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0005g0080 a0002c0001t0005g0232 a0002c0005t0003g0106 a0002c0005t0007g0111 a0002c0005t0007g0199 a0002c0005t0009g0103 a0002c0005t0009g0224 a0002c0005t0010g0059 a0002c0005t0012g0058 a0002c0005t0030g0006 a0002c0006t0001g0165 a0002c0006t0002g0052 a0002c0006t0002g0060 a0002c0006t0008g0155 a0002c0007t0002g0112 a0002c0007t0005g0239 a0002c0011t0010g0120 a0002c0011t0013g0072 a0002c0011t0033g0222 a0002c0015t0004g0198 a0002c0017t0002g0245 a0002c0017t0020g0249 a0002c0024t0012g0121 a0002c0024t0012g0238 a0002c0055t0013g0019 a0005c0025t0024g0230 a0009c0051t0003g0142 a0011c0030t0001g0130 a0012c0039t0004g0190 a0014c0040t0001g0063	78	252	0.3095	25	c.417 others(42): Show c.417-2890_417-2889insCTATATATACTATATATACTATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121113	A A	ATATATGG others(18): Show ATATATGGTATATATAGTATATATAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02965.hp2 others(3): Show HG02559.hp1 HG02723.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0005 a0001c0002t0006 a0001c0002t0018 others(3): Show a0001c0002t0005 a0001c0002t0006 a0001c0002t0018 a0001c0002t0027 a0001c0003t0013 a0002c0001t0006	a0001c0002t0005g0250 a0001c0002t0006g0016 a0001c0002t0018g0135 others(3): Show a0001c0002t0005g0250 a0001c0002t0006g0016 a0001c0002t0018g0135 a0001c0002t0027g0001 a0001c0003t0013g0183 a0002c0001t0006g0197	6	252	0.0238	25	c.417 others(42): Show c.417-2890_417-2889insCTATATATACTATATATACCATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126193904	G G	GAAATAAA others(18): Show GAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01175.hp1 others(9): Show HG01099.hp1 HG01109.hp2 HG01175.hp1 HG02055.hp1 HG02257.hp2 HG02615.hp1 HG02723.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 NA19240.hp2	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0012 a0016	a0001c0002 a0002c0001 a0002c0006 others(3): Show a0001c0002 a0002c0001 a0002c0006 a0009c0051 a0012c0039 a0016c0043	a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 others(9): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0019 a0002c0001t0006 a0002c0001t0008 a0002c0001t0018 a0002c0006t0005 a0002c0006t0011 a0009c0051t0003 a0012c0039t0004 a0016c0043t0001	a0001c0002t0001g0185 a0001c0002t0008g0201 a0001c0002t0011g0178 others(9): Show a0001c0002t0001g0185 a0001c0002t0008g0201 a0001c0002t0011g0178 a0001c0002t0019g0188 a0002c0001t0006g0197 a0002c0001t0008g0157 a0002c0001t0018g0008 a0002c0006t0005g0154 a0002c0006t0011g0086 a0009c0051t0003g0142 a0012c0039t0004g0190 a0016c0043t0001g0098	12	252	0.0476	25	c.261 others(44): Show c.261-38624_261-38600dupTATTTTATTTTATTTTATTTTATTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	234	0.0043	25	c.957 others(40): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9521840	T T	TCTTCCCT others(18): Show TCTTCCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0119 a0001c0001t0007g0119	1	234	0.0043	25	c.844 others(40): Show c.844-525_844-524insGCAGGCAGGCAGGCAGGCAGGGAAG	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	7/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9537972	A A	AAGGGGAA others(18): Show AAGGGGAAGGGAGGGGAAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0225 a0001c0002t0002g0225	1	234	0.0043	25	c.231 others(42): Show c.231-1169_231-1145dupCCCCTCCCTTCCCCTCCCTTCCCCT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	2/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9538016	A A	AGAGGGGA others(18): Show AGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02647.hp2 others(2): Show HG01884.hp2 HG02486.hp2 HG02647.hp2 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0056 a0001c0001t0057 a0001c0001t0020 a0001c0001t0056 a0001c0001t0057	a0001c0001t0020g0043 a0001c0001t0020g0044 a0001c0001t0020g0046 others(2): Show a0001c0001t0020g0043 a0001c0001t0020g0044 a0001c0001t0020g0046 a0001c0001t0056g0045 a0001c0001t0057g0047	5	234	0.0214	25	c.231 others(42): Show c.231-1189_231-1188insCCCTCCCCTCCCCTCCCCTCCCCTC	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	2/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	87982699	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01169.hp2 HG02145.hp1 others(2): Show HG00323.hp1 HG01169.hp2 HG02145.hp1 HG06807.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0006	a0001c0001t0001g0039 a0001c0001t0002g0088 a0001c0001t0003g0135 others(2): Show a0001c0001t0001g0039 a0001c0001t0002g0088 a0001c0001t0003g0135 a0002c0002t0001g0211 a0003c0003t0006g0086	5	230	0.0217	25	c.323 others(42): Show c.323+4287_323+4288insTATATATATATATATATATATATAT	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31			chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	230	0.0044	25	c.324 others(44): Show c.324-36161_324-36160insAAAAAAAAAAAAAAATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM23_chr2_206438532_206626127	206443464	T T	TCCGCGCG others(18): Show TCCGCGCGTCCCCGCGCCGCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00733.hp2 others(49): Show HG00280.hp1 HG00558.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG03017.hp1 HG03471.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA18959.hp1 NA18965.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA19009.hp1 NA19056.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0025	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0154 others(47): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0002g0035 a0001c0001t0002g0139 a0001c0001t0002g0322 a0001c0001t0005g0145 a0001c0001t0006g0345 a0001c0001t0006g0348 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0008g0347 a0001c0001t0020g0329 a0001c0001t0034g0079 a0001c0001t0035g0078 a0001c0002t0001g0150 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0172 a0001c0002t0003g0093 a0001c0002t0003g0126 a0001c0002t0003g0137 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0174 a0001c0002t0003g0178 a0001c0002t0025g0159	52	358	0.1453	25	c.-40 others(34): Show c.-403_-402insCCGCGCGTCCCCGCGCCGCTCGCTC	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding		67		chr2	TogoVar
ADAM28_chr8_24289069_24364014	24325871	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0279 a0003c0006t0001g0279	1	348	0.0029	25	c.891 others(40): Show c.891-678_891-654dupAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM7_chr8_24436026_24514565	24514043	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01168.hp2 others(6): Show HG00140.hp1 HG01167.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp1 HG02602.hp2 HG02738.hp1 HG03239.hp2 HG03710.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0010 a0001c0004t0003g0062 a0001c0004t0003g0063 others(5): Show a0001c0004t0003g0010 a0001c0004t0003g0062 a0001c0004t0003g0063 a0001c0004t0003g0065 a0001c0004t0003g0149 a0001c0004t0003g0150 a0001c0004t0003g0151 a0001c0004t0003g0152	9	360	0.0250	25	c.54 others(36): Show c.5497_*5498insAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM7	ENSG00000069206.15	transcript	ENST00000175238.10	protein_coding		4479		chr8	TogoVar
ADAMTS10_chr19_8575240_8615715	8581130	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18995.hp2 HG01261.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0243 a0001c0002t0001g0098 a0001c0002t0001g0243	2	384	0.0052	25	c.320 others(42): Show c.3203-153_3203-129dupAAAAAAAAAAAAAAAAAAAAAAAAA	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	25/25			chr19	TogoVar
ADAMTS12_chr5_33518535_33896990	33835907	A A	ATCTTCTC others(18): Show ATCTTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0010 a0003c0043t0010	a0003c0043t0010g0042 a0003c0043t0010g0042	1	224	0.0045	25	c.489 others(44): Show c.489+45211_489+45212insGAGAGAGAGAGAGAGAGAGAGAAGA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33848958	C C	CTATATAT others(18): Show CTATATATATGTATTGCATAGCAATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	224	0.0045	25	c.489 others(44): Show c.489+32136_489+32160dupTATTGCTATGCAATACATATATATA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849080	A A	AATATATA others(18): Show AATATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19003.hp1 HG01952.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0071 a0001c0003t0003g0088 a0001c0001t0001g0071 a0001c0003t0003g0088	2	224	0.0089	25	c.489 others(44): Show c.489+32038_489+32039insTGCTATGCAATACATATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849151	A A	AATATATA others(18): Show AATATATATATGTATTGCATAGCAAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	224	0.0045	25	c.489 others(44): Show c.489+31943_489+31967dupATTGCTATGCAATACATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849366	A A	AATATATA others(18): Show AATATATATATGTATTGCACAGCAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0132 a0004c0007t0007g0132	1	224	0.0045	25	c.489 others(44): Show c.489+31728_489+31752dupATTGCTGTGCAATACATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS14_chr10_70667506_70767441	70688882	A A	AGGGGGAG others(18): Show AGGGGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0018 a0003c0003t0026g0018	1	354	0.0028	25	c.523 others(44): Show c.523-13415_523-13414insGGAGGGGGAGGGGGGAGGGGGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100276187	G G	GGGTAGGA others(18): Show GGGTAGGAGGGAGGGAGTGGGTGCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0052 a0001c0043t0052	a0001c0043t0052g0124 a0001c0043t0052g0124	1	228	0.0044	25	c.789 others(42): Show c.789+5041_789+5042insAGGCACCCACTCCCTCCCTCCTACC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129608140	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG00642.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0120 a0001c0001t0001g0021 a0001c0001t0001g0120	2	226	0.0089	25	c.147 others(46): Show c.1478+11476_1478+11477insTATATATATATATATATATATATA T	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	8/22			chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129645885	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19062.hp1 HG01346.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0156 a0001c0001t0002g0032 a0001c0001t0001g0156 a0001c0001t0002g0032	2	226	0.0089	25	c.187 others(44): Show c.1873-1859_1873-1858insTTTTTTTTTTTTTTTTTTTTTTTTT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129684499	G G	GCATTATA others(18): Show GCATTATATTACATTACATTACATTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0127 a0001c0019t0001g0127	1	226	0.0044	25	c.281 others(42): Show c.2818+231_2818+232insTATTACATTACATTACATTACATTA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129702941	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18522.hp1 HG02165.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0002g0015 a0001c0001t0001g0200 a0001c0001t0002g0015	2	226	0.0089	25	c.316 others(44): Show c.3160-1297_3160-1296insAAATATATATATATATATATATATA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129702941	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	226	0.0044	25	c.316 others(44): Show c.3160-1297_3160-1296insATATATATATATATATATATATATA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43420800	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	306	0.0033	25	c.428 others(44): Show c.4284+4689_4284+4713dupAAAAAAAAAAAAAAAAAAAAAAAAA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	28/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18979.hp2 HG02165.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0086 a0001c0009t0001g0172 a0001c0001t0001g0086 a0001c0009t0001g0172	2	306	0.0065	25	c.161 others(44): Show c.1614+1906_1614+1907insAAAAAAATATATATATATATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	306	0.0033	25	c.161 others(44): Show c.1614+1906_1614+1907insAAAAAAAAAAATATATATATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179263048	C C	CCCATGAT others(18): Show CCCATGATTTGGGGAGCAGCATTATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	276	0.0036	25	c.688 others(42): Show c.688+9838_688+9862dupAATAATGCTGCTCCCCAAATCATGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179263104	C C	CCCATGAT others(18): Show CCCATGATTTGGGGAGCAGCATTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01074.hp2 others(20): Show HG00140.hp1 HG00609.hp2 HG01074.hp2 HG01099.hp1 HG01346.hp1 HG01891.hp2 HG01952.hp1 HG02896.hp2 HG02970.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03704.hp1 HG04115.hp2 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0010 a0012	a0001c0001 a0001c0004 a0001c0014 others(16): Show a0001c0001 a0001c0004 a0001c0014 a0001c0035 a0001c0051 a0001c0065 a0001c0068 a0001c0069 a0002c0002 a0002c0007 a0002c0012 a0002c0017 a0004c0006 a0004c0102 a0004c0103 a0005c0015 a0005c0073 a0010c0078 a0012c0055	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0004 a0001c0014t0002 a0001c0035t0004 a0001c0051t0001 a0001c0065t0002 a0001c0068t0001 a0001c0069t0002 a0002c0002t0001 a0002c0002t0022 a0002c0007t0002 a0002c0012t0001 a0002c0017t0001 a0004c0006t0004 a0004c0102t0001 a0004c0103t0002 a0005c0015t0005 a0005c0073t0003 a0010c0078t0001 a0012c0055t0001	a0001c0001t0001g0054 a0001c0001t0002g0036 a0001c0004t0001g0190 others(20): Show a0001c0001t0001g0054 a0001c0001t0002g0036 a0001c0004t0001g0190 a0001c0004t0004g0004 a0001c0004t0004g0157 a0001c0014t0002g0131 a0001c0035t0004g0022 a0001c0051t0001g0182 a0001c0065t0002g0118 a0001c0068t0001g0023 a0001c0069t0002g0046 a0002c0002t0001g0086 a0002c0002t0022g0136 a0002c0007t0002g0082 a0002c0012t0001g0056 a0002c0017t0001g0189 a0004c0006t0004g0228 a0004c0102t0001g0251 a0004c0103t0002g0235 a0005c0015t0005g0076 a0005c0073t0003g0142 a0010c0078t0001g0017 a0012c0055t0001g0019	23	276	0.0833	25	c.688 others(42): Show c.688+9782_688+9806dupAATAATGCTGCTCCCCAAATCATGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179268370	C C	CCTCCACT others(18): Show CCTCCACTGCTGTCCTTGTTGGCATT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	276	0.0036	25	c.688 others(42): Show c.688+4516_688+4540dupAATGCCAACAAGGACAGCAGTGGAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72450969	A A	AAGAAGAG others(18): Show AAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0165 a0003c0007t0006g0165	1	182	0.0055	25	c.505 others(44): Show c.505-36023_505-35999dupCTTCTCTTCTCTTCTCTTCTCTTCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72450986	G G	GAAGAGAA others(18): Show GAAGAGAAGAGAAGAGAAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0031 a0009c0014t0031	a0009c0014t0031g0074 a0009c0014t0031g0074	1	182	0.0055	25	c.505 others(44): Show c.505-36016_505-36015insTTCTTCTCTTCTCTTCTCTTCTCTT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456019	A A	ATATATAT others(18): Show ATATATATTTTATATAGTATATATAC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0102 a0002c0002t0004g0102	1	182	0.0055	25	c.505 others(44): Show c.505-41049_505-41048insGTATATATACTATATAAAATATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar

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Search Results (Total: 8644 hits)