Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OMA1_chr1_58475719_58551726	58518272	G G	GGGGAGAG others(44): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG GA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	244	0.0041	51	c.121 others(70): Show c.1215+8988_1215+8989insTCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCTCTCCCCTCTCCCCTCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMP_chr11_77097840_77108331	77098582	C C	CGGCTGGC others(44): Show CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATATCCCTCCCAGACGGG GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG03831.hp2 HG03942.hp1 HG00597.hp1 HG03831.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	371	0.0081	51	c.-42 others(62): Show c.-4258_-4257insGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATA TCCCTCCCAGACGGGGT	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4257		chr11	TogoVar
ONECUT3_chr19_1748506_1785988	1769010	G G	GTGGAGGT others(44): Show GTGGAGGTGAAGGTGGAGGAGGTAGAGGTAGAGGTGCTGGAGGTGGAGGT AA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01109.hp1 others(7): Show HG00323.hp2 HG01081.hp1 HG01109.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01981.hp1 HG02004.hp2 HG02273.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0207 a0001c0001t0208 others(6): Show a0001c0001t0038 a0001c0001t0207 a0001c0001t0208 a0001c0001t0209 a0001c0001t0236 a0001c0001t0237 a0001c0001t0271 a0001c0001t0272 a0001c0001t0276	a0001c0001t0038g0007 a0001c0001t0207g0077 a0001c0001t0208g0049 others(6): Show a0001c0001t0038g0007 a0001c0001t0207g0077 a0001c0001t0208g0049 a0001c0001t0209g0065 a0001c0001t0236g0254 a0001c0001t0237g0214 a0001c0001t0271g0255 a0001c0001t0272g0210 a0001c0001t0276g0177	10	368	0.0272	51	c.119 others(70): Show c.1193-6135_1193-6134insAAGGTGGAGGAGGTAGAGGTAGAGGT GCTGGAGGTGGAGGTAATGGAGGTG	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
OPCML_chr11_132409981_133537501	133140895	A A	AGAAGACG others(44): Show AGAAGACGACGACGAAGACGAAGACGAAGACGACGACGAAGACGAAGAAG AC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp1 HG01891.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0045 a0001c0001t0007g0029 a0001c0001t0006g0045 a0001c0001t0007g0029	2	61	0.0328	51	c.62- others(70): Show c.62-197886_62-197885insGTCTTCTTCGTCTTCGTCGTCGTCTT CGTCTTCGTCTTCGTCGTCGTCTTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR10G3_chr14_21563520_21585076	21582120	T T	TTGTGCTT others(44): Show TTGTGCTTTGTGCCTACATCATCTATCCATTATATCATATAAACTCAGGT TG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0223 a0003c0006t0002g0223	1	440	0.0023	51	c.-23 others(62): Show c.-2353_-2352insCAACCTGAGTTTATATGATATAATGGATAGATGA TGTAGGCACAAAGCACA	OR10G3	ENSG00000169208.3	transcript	ENST00000641040.1	protein_coding		2045		chr14	TogoVar
OR11H2_chr14_19707936_19718883	19718094	A A	AATTTAGA others(44): Show AATTTAGAGCAAATGTTATCCAAAGTGACCTCTACTCACTAATGCTGGGA GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	236	0.0042	51	c.-42 others(62): Show c.-4212_-4211insGCTCCCAGCATTAGTGAGTAGAGGTCACTTTGGA TAACATTTGCTCTAAAT	OR11H2	ENSG00000258453.4	transcript	ENST00000556246.3	protein_coding		4212		chr14	TogoVar
OR13D1_chr9_104689518_104700462	104696103	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18966.hp2 HG00621.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	303	0.0066	51	c.64 others(60): Show c.641_*642insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAG	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		642		chr9	TogoVar
OR1E1_chr17_3392104_3403410	3399258	G G	GAAGGAAG others(44): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	303	0.0033	51	c.-84 others(60): Show c.-849_-848insTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTT	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		849		chr17	TogoVar
OR2T12_chr1_248285139_248308424	248306539	G G	GCCTGAGG others(44): Show GCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCTGAGGACTGGAA CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0010 a0011c0029t0010	a0011c0029t0010g0062 a0011c0029t0010g0062	1	322	0.0031	51	c.-33 others(62): Show c.-3384_-3383insGGTTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGG CGGCTCCAGTCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3116		chr1	TogoVar
OR56A4_chr11_5994445_6011946	6005175	A A	AGGGGGGG others(44): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGG GG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0144 a0001c0001t0031g0144	1	468	0.0021	51	c.-37 others(68): Show c.-37+1073_-37+1074insCCCCCCCCCCCCACCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCC	OR56A4	ENSG00000183389.5	transcript	ENST00000641156.1	protein_coding	2/2			chr11	TogoVar
OR8G1_chr11_124236095_124259364	124258736	T T	TGCTGACC others(44): Show TGCTGACCTCTAAGAGGCTCTGGATGCCACAGGCTTCTCTTCATTGCCCC AA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0006	1	428	0.0023	51	c.81 others(62): Show c.8125_*8126insGCTGACCTCTAAGAGGCTCTGGATGCCACAGGCT TCTCTTCATTGCCCCAA	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding		4373		chr11	TogoVar
OR8G5_chr11_124251376_124271224	124258736	T T	TGCTGACC others(44): Show TGCTGACCTCTAAGAGGCTCTGGATGCCACAGGCTTCTCTTCATTGCCCC AA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	430	0.0023	51	c.-15 others(68): Show c.-15+2133_-15+2134insGCTTCTCTTCATTGCCCCAAGCTGACCT CTAAGAGGCTCTGGATGCCACAG	OR8G5	ENSG00000255298.5	transcript	ENST00000641992.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31965525	T T	TTATATTA others(44): Show TTATATTATATAAATTATATATTATATATTATATAAATTATATATTATAT AA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01261.hp1 others(2): Show HG01256.hp2 HG01258.hp2 HG01261.hp1 HG02602.hp1 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0001c0002t0001 a0002c0003t0001 a0002c0004t0001	a0001c0002t0001g0051 a0001c0002t0001g0054 a0002c0003t0001g0034 others(2): Show a0001c0002t0001g0051 a0001c0002t0001g0054 a0002c0003t0001g0034 a0002c0003t0001g0153 a0002c0004t0001g0033	5	127	0.0394	51	c.281 others(70): Show c.281+15323_281+15373dupTTATATAATATATAATTTATATAATA TATAATATATAATTTATATAATATA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL3_chr7_24791540_24985178	24917446	T T	TATATATA others(44): Show TATATATATATATATATATATATATATATATTTGTAACATATATATATAT AC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	231	0.0043	51	c.-14 others(72): Show c.-149-24826_-149-24825insGTATATATATATATGTTACAAATA TATATATATATATATATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSGIN1_chr16_83948240_83971332	83951920	T T	TTCCCTCC others(44): Show TTCCCTCCCTCCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0237 a0001c0003t0003g0237	1	282	0.0035	51	c.-14 others(62): Show c.-1483_-1482insTCCCTCCCTCCCTCCCTTCCTCCCTCCTTCCCTC CGTCCTCCCTTCCTCCC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1319		chr16	TogoVar
P2RX7_chr12_121127876_121193032	121130816	A A	AAAAGAAA others(44): Show AAAAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02132.hp1 HG03704.hp2 others(4): Show HG01123.hp1 HG02132.hp1 HG03704.hp2 NA18967.hp1 NA18974.hp1 NA18982.hp2 NA18984.hp2	a0004 a0007 a0004 a0007	a0004c0003 a0007c0008 a0007c0015 a0004c0003 a0007c0008 a0007c0015	a0004c0003t0004 a0007c0008t0001 a0007c0015t0001 a0004c0003t0004 a0007c0008t0001 a0007c0015t0001	a0004c0003t0004g0219 a0004c0003t0004g0221 a0004c0003t0004g0226 others(4): Show a0004c0003t0004g0219 a0004c0003t0004g0221 a0004c0003t0004g0226 a0004c0003t0004g0229 a0004c0003t0004g0240 a0007c0008t0001g0357 a0007c0015t0001g0189	7	330	0.0212	51	c.-21 others(62): Show c.-2155_-2154insAAAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2059		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130843	A A	AGAAAGAA others(44): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG01071.hp1 others(30): Show HG00558.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp2 HG01256.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02080.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03927.hp1 HG04199.hp2 NA18940.hp2 NA18953.hp1 NA18957.hp2 NA18968.hp2 NA18994.hp1 NA18994.hp2 NA19005.hp2 NA19068.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0008 a0012 a0013 a0014 a0019	a0001c0001 a0002c0002 a0003c0004 others(8): Show a0001c0001 a0002c0002 a0003c0004 a0006c0005 a0007c0008 a0007c0015 a0008c0039 a0012c0013 a0013c0014 a0014c0012 a0019c0021	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(9): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0006c0005t0002 a0006c0005t0018 a0007c0008t0001 a0007c0015t0001 a0008c0039t0028 a0012c0013t0005 a0013c0014t0001 a0014c0012t0004 a0019c0021t0001	a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0110 others(30): Show a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0360 a0002c0002t0001g0118 a0002c0002t0001g0171 a0002c0002t0001g0228 a0003c0004t0001g0015 a0003c0004t0001g0050 a0003c0004t0001g0063 a0003c0004t0001g0093 a0003c0004t0001g0167 a0003c0004t0001g0170 a0006c0005t0002g0164 a0006c0005t0018g0048 a0007c0008t0001g0051 a0007c0008t0001g0116 a0007c0015t0001g0045 a0007c0015t0001g0046 a0007c0015t0001g0073 a0007c0015t0001g0101 a0008c0039t0028g0012 a0012c0013t0005g0107 a0013c0014t0001g0072 a0013c0014t0001g0097 a0014c0012t0004g0152 a0019c0021t0001g0064	33	97	0.3402	51	c.-21 others(62): Show c.-2128_-2127insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2032		chr12	TogoVar
P4HA2_chr5_132185147_132232853	132208421	G G	GGGAGGGG others(44): Show GGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGAGGGGA GA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0159 a0001c0001t0035g0159	1	147	0.0068	51	c.904 others(66): Show c.904-538_904-537insTCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCCTCCCCTCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
P4HA2_chr5_132185147_132232853	132208421	G G	GGGGAGGG others(44): Show GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGAGGGGAGAGGGGAGGGGA GA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02280.hp2 others(4): Show HG01069.hp2 HG01071.hp1 HG02280.hp2 HG03098.hp1 HG03195.hp1 HG03654.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0031 a0001c0001t0040 others(1): Show a0001c0001t0011 a0001c0001t0031 a0001c0001t0040 a0001c0001t0045	a0001c0001t0011g0249 a0001c0001t0011g0257 a0001c0001t0011g0303 others(4): Show a0001c0001t0011g0249 a0001c0001t0011g0257 a0001c0001t0011g0303 a0001c0001t0011g0304 a0001c0001t0031g0250 a0001c0001t0040g0098 a0001c0001t0045g0290	7	153	0.0458	51	c.904 others(66): Show c.904-538_904-537insTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
P4HA2_chr5_132185147_132232853	132208421	G G	GGGGAGGG others(44): Show GGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGAGGGGAGGGGA GA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	147	0.0068	51	c.904 others(66): Show c.904-538_904-537insTCTCCCCTCCCCTCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
P4HA2_chr5_132185147_132232853	132208421	G G	GGGGGAGG others(44): Show GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGAGGGGAGGGGA GA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp2 HG03098.hp2 HG01081.hp2 HG02451.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0090 a0001c0001t0019g0071 a0001c0001t0019g0072 a0001c0001t0001g0090 a0001c0001t0019g0071 a0001c0001t0019g0072	3	149	0.0201	51	c.904 others(66): Show c.904-538_904-537insTCTCCCCTCCCCTCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PADI4_chr1_17303197_17369004	17352036	G G	GAGGTGGT others(44): Show GAGGTGGTAAGAGGGGTGGTCAAGGAGGTGATGGGAGGTGATGGGAGGCG GT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0251 a0001c0011t0001g0251	1	323	0.0031	51	c.115 others(70): Show c.1156-2494_1156-2493insTGGTAAGAGGGGTGGTCAAGGAGGTG ATGGGAGGTGATGGGAGGCGGTAGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALLD_chr4_168492052_168933441	168709633	A A	AGGGAGGG others(44): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGGGAAAAGGAGTGGG GG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	56	0.0179	51	c.162 others(68): Show c.1621+486_1621+487insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGAAGGGGGAAAAGGAGTGGGGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(44): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	129	0.0078	51	c.583 others(66): Show c.583-962_583-961insAAAAAAAAATATATATATATATATATATAT ATATATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR5_chr15_69293912_69412780	69322790	G G	GGGAGAAG others(44): Show GGGAGAAGAAGAAGAAGATGAGGAAGAAGAAGAAGAGGAAGAGGAAGAAG AA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0070	1	187	0.0053	51	c.-27 others(72): Show c.-276-14550_-276-14549insGAGAAGAAGAAGAAGATGAGGAAG AAGAAGAAGAGGAAGAGGAAGAAGAAG	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322832	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19088.hp2 HG00423.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0075 a0001c0001t0001g0087	2	222	0.0090	51	c.-27 others(72): Show c.-276-14504_-276-14503insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAGGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARVB_chr22_44019302_44177939	44066780	T T	TCTTCTCC others(44): Show TCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	61	0.0164	51	c.113 others(70): Show c.113-27146_113-27145insTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PAX1_chr20_21700664_21723481	21721292	A A	AATATATA others(44): Show AATATATATGTAATACATATATATTATATATGTATATAATACATATATAT GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	398	0.0025	51	c.67 others(62): Show c.6730_*6731insATATATATGTAATACATATATATTATATATGTAT ATAATACATATATATGT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2812		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45739331	T T	TCCCATCT others(44): Show TCCCATCTTCATCAGCCCACCCCTTCCTGTCCATGGTCCTCTGGGTAGCC CC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(195): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0025 a0001c0003t0014 a0001c0003t0020 a0001c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0035 others(194): Show a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0113 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0003g0231 a0001c0001t0003g0262 a0001c0001t0004g0017 a0001c0001t0004g0022 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0005g0001 a0001c0001t0005g0272 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0285 a0001c0001t0005g0291 a0001c0001t0007g0235 a0001c0001t0007g0239 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0259 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0114 a0001c0001t0009g0103 a0001c0001t0011g0280 a0001c0001t0011g0281 a0001c0001t0012g0031 a0001c0001t0012g0032 a0001c0001t0015g0021 a0001c0001t0016g0011 a0001c0001t0017g0098 a0001c0001t0018g0265 a0001c0001t0019g0225 a0001c0001t0021g0071 a0001c0001t0022g0216 a0001c0001t0023g0112 a0001c0001t0024g0237 a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0006g0010 a0001c0002t0006g0033 a0001c0002t0006g0077 a0001c0002t0006g0086 a0001c0002t0006g0104 a0001c0002t0009g0217 a0001c0002t0009g0284 a0001c0002t0025g0015 a0001c0003t0014g0289 a0001c0003t0014g0290 a0001c0003t0020g0223 a0001c0004t0002g0087 a0001c0004t0002g0088	198	289	0.6851	51	c.-16 others(70): Show c.-162+3912_-162+3913insTCAGCCCACCCCTTCCTGTCCATGGT CCTCTGGGTAGCCCCCCCATCTTCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92331279	T T	TTTCTTCT others(44): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19004.hp1 HG02818.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0009 a0001c0001t0005 a0002c0004t0009	a0001c0001t0005g0020 a0002c0004t0009g0036 a0001c0001t0005g0020 a0002c0004t0009g0036	2	63	0.0317	51	c.314 others(72): Show c.3145-56417_3145-56416insTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(44): Show CCCTCCCTCCCTCCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	9	0.1111	51	c.285 others(74): Show c.2854-127930_2854-127929insCTCCCTCCCTCCTTTCTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGTTTCTTGTTT CA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	208	0.0048	51	c.354 others(68): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAGAGTTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGTTTCTTGTTT CA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	208	0.0048	51	c.354 others(68): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGTTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGTTTCTTGTTT CA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02258.hp1 HG02004.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0071 a0001c0001t0001g0083	2	209	0.0096	51	c.354 others(68): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAGTTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586572	G G	GTGTGTGT others(44): Show GTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGTTTCTTGTT TC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19004.hp1 NA19081.hp2 others(1): Show NA18980.hp2 NA19004.hp1 NA19081.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0036 a0001c0001t0001g0037	4	378	0.0106	51	c.354 others(68): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAGAGTTTCTTGTTTC	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4			chr3	TogoVar
PCNX1_chr14_70902459_71120382	70910118	T T	TCCTCCTC others(44): Show TCCTCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTC CC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	298	0.0034	51	c.153 others(68): Show c.153+2120_153+2121insTCCTCCTCCTCCCCCTCCTCCTCCCCCT CCTCCTCCTCCCCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GAAAGGAA others(44): Show GAAAGGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0008 a0010c0007t0008	a0010c0007t0008g0005 a0010c0007t0008g0005	1	108	0.0093	51	c.506 others(68): Show c.5067+519_5067+520insAAAGGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37			chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311686	C C	CCCCTCAC others(44): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	253	0.0040	51	c.269 others(70): Show c.2699+1689_2699+1690insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312038	C C	CCCCTCAC others(44): Show CCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0215 a0001c0002t0005g0215	1	328	0.0030	51	c.269 others(70): Show c.2699+1337_2699+1338insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGAGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(44): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	272	0.0037	51	c.13 others(62): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAT others(44): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0086 a0001c0001t0021g0086	1	119	0.0084	51	c.117 others(68): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATATATATTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	167	0.0060	51	c.-18 others(62): Show c.-1842_-1841insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding		1553		chr11	TogoVar
PDCD1LG2_chr9_5505531_5576282	5509030	G G	GACACAGT others(44): Show GACACAGTCCCAACTCTTGCCGTCTAGGCAGCCACTCCCATCTGTAGGTA GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	404	0.0025	51	c.-17 others(62): Show c.-1788_-1787insACACAGTCCCAACTCTTGCCGTCTAGGCAGCCAC TCCCATCTGTAGGTAGT	PDCD1LG2	ENSG00000197646.8	transcript	ENST00000397747.5	protein_coding		1500		chr9	TogoVar
PDE10A_chr6_165322289_165668241	165339906	G G	GTTACAGG others(44): Show GTTACAGGTAATAGTTACTAAAGATTCACTATGTTAGTTACTAAAGATTC AC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02630.hp2 HG02055.hp2 HG02559.hp2 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0029 a0001c0001 a0001c0003 a0002c0029	a0001c0001t0017 a0001c0003t0016 a0002c0029t0034 a0001c0001t0017 a0001c0003t0016 a0002c0029t0034	a0001c0001t0017g0015 a0001c0003t0016g0144 a0002c0029t0034g0219 a0001c0001t0017g0015 a0001c0003t0016g0144 a0002c0029t0034g0219	3	213	0.0141	51	c.289 others(68): Show c.2896-599_2896-549dupGTGAATCTTTAGTAACTAACATAGTGAA TCTTTAGTAACTATTACCTGTAA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	19/21			chr6	TogoVar
PDE3A_chr12_20363537_20693583	20385997	T T	TATATAAA others(44): Show TATATAAATATATATAAAATATATATATAAATATATATAAAATATATATA AA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0117 a0001c0001t0068g0117	1	196	0.0051	51	c.960 others(70): Show c.960+15758_960+15759insAATATATATAAAATATATATATAAAT ATATATAAAATATATATAAAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE4DIP_chr1_148839428_149038016	148843629	T T	TTCTAAAA others(44): Show TTCTAAAAGATAAAAAAAATAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0014 a0002c0003t0015g0014	1	22	0.0455	51	c.-11 others(62): Show c.-1146_-1145insTCTAAAAGATAAAAAAAATAAAAAAAAAGAAAAA AAAAAAAAAAAAAAAAA	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding		798		chr1	TogoVar
PDE9A_chr21_42648621_42780509	42778581	G G	GCCCCGTC others(44): Show GCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCCAGC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	271	0.0037	51	c.32 others(62): Show c.3288_*3289insCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCCAGCCA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		3073		chr21	TogoVar
PDIA2_chr16_278164_292215	285949	C C	CCCCGCGG others(44): Show CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0066	1	386	0.0026	51	c.111 others(68): Show c.1119+249_1119+250insGCGGTTCTCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741322	C C	CTCAGGGG others(44): Show CTCAGGGGGCTCGCGGGGGGCTGGCGGGCTCGCGGGGGGCTCGCGGGGGG GT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0180 a0001c0001t0007g0180	1	354	0.0028	51	c.143 others(66): Show c.143-343_143-342insAGGGGGCTCGCGGGGGGCTGGCGGGCTCGC GGGGGGCTCGCGGGGGGGTTC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743221	C C	CAGCACTG others(44): Show CAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCC CG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	356	0.0028	51	c.248 others(66): Show c.248-467_248-417dupCTCCCCCCAGCTCCCGAGCACTGTGGGGAC ACCTCGCCTGCACCCACCTCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar

Search by Variant

Search

Search Results