regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALLD_chr4_168492052_168933441 | 168816817 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01884.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0026others(28): Show | 31 | 156 | 0.1987 | -8 | c.196 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168834862 | GTTGCATT others(1): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA18964.hp2 NA19001.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0055a0001c0001t0001g0078a0001c0001t0002g0146others(1): Show | 4 | 156 | 0.0256 | -8 | c.196 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168854161 | GTCATTCA others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02451.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0016a0001c0001t0004g0087a0001c0001t0005g0091others(8): Show | 11 | 156 | 0.0705 | -8 | c.196 others(29): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168922098 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01167.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0019a0002c0006others(4): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0009others(7): Show | a0001c0002t0003g0018a0001c0002t0003g0019a0001c0002t0003g0066others(12): Show | 15 | 156 | 0.0962 | -8 | c.305 others(25): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168922100 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03225.hp2 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0003a0002c0003t0003a0002c0006t0007 | a0001c0001t0003g0016a0002c0003t0003g0033a0002c0006t0007g0046 | 3 | 156 | 0.0192 | -8 | c.305 others(25): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109819697 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01433.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0002g0200others(15): Show | 18 | 222 | 0.0811 | -8 | c.45+ others(25): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109831142 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0007others(10): Show | a0001c0001t0001g0039a0001c0001t0001g0075a0001c0001t0001g0077others(23): Show | 26 | 222 | 0.1171 | -8 | c.46- others(25): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109867164 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01081.hp2 others(31): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0041a0001c0001t0001g0136a0001c0001t0001g0141others(31): Show | 34 | 222 | 0.1532 | -8 | c.46- others(21): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109881876 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01261.hp1 others(60): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0006a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0016a0001c0001t0001g0041a0001c0001t0001g0075others(60): Show | 63 | 222 | 0.2838 | -8 | c.257 others(25): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109908808 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(21): Show | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0088others(38): Show | 41 | 222 | 0.1847 | -8 | c.258 others(27): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110006324 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0086a0001c0001t0011g0162 | 2 | 222 | 0.0090 | -8 | c.497 others(25): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110014801 | AAAATGTA others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02280.hp2 HG02922.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0003a0002c0004t0001others(3): Show | a0001c0001t0001g0077a0001c0001t0001g0136a0001c0001t0001g0209others(6): Show | 9 | 222 | 0.0405 | -8 | c.497 others(25): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110014806 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG03669.hp2 NA18994.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0004a0003c0003t0001 | a0001c0001t0001g0137a0002c0002t0004g0132a0003c0003t0001g0092 | 3 | 222 | 0.0135 | -8 | c.497 others(25): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110032691 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00621.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0031a0001c0001t0001g0077a0001c0001t0001g0101others(41): Show | 44 | 222 | 0.1982 | -8 | c.582 others(27): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110094663 | CGGGGCGG others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00733.hp2 others(73): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(23): Show | a0001c0001t0001g0034a0001c0001t0001g0075a0001c0001t0001g0077others(73): Show | 76 | 222 | 0.3423 | -8 | c.583 others(27): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110100051 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG03486.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0008a0006c0009t0014 | a0001c0001t0008g0049a0006c0009t0014g0217 | 2 | 222 | 0.0090 | -8 | c.583 others(27): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110132032 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00621.hp1 others(81): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0039others(81): Show | 84 | 222 | 0.3784 | -8 | c.583 others(25): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110160156 | CTATGAAG others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG06807.hp2 NA20129.hp2 |
a0004a0006 | a0004c0005a0006c0009 | a0004c0005t0005a0006c0009t0014 | a0004c0005t0005g0148a0006c0009t0014g0151a0006c0009t0014g0217 | 3 | 222 | 0.0135 | -8 | c.317 others(27): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110165284 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp1 NA20129.hp2 |
a0002a0004a0008 | a0002c0004a0004c0005a0008c0010 | a0002c0004t0034a0004c0005t0005a0008c0010t0012 | a0002c0004t0034g0032a0004c0005t0005g0148a0008c0010t0012g0201 | 3 | 222 | 0.0135 | -8 | c.321 others(27): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110173136 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01074.hp1 HG01346.hp1 others(39): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0006t0028others(10): Show | a0001c0001t0002g0071a0001c0001t0002g0135a0001c0001t0008g0215others(39): Show | 42 | 222 | 0.1892 | -8 | c.*46 others(19): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 625 | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99653161 | AAACAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0361a0001c0002t0001g0313a0001c0002t0001g0362 | 3 | 380 | 0.0079 | -8 | c.45+ others(23): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PALMD_chr1_99641113_99699535 | 99683003 | CTCCAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01346.hp2 HG02486.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0011 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0348a0001c0002t0001g0014a0001c0002t0001g0024others(6): Show | 9 | 380 | 0.0237 | -8 | c.252 others(25): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683088 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01934.hp2 HG02015.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0085a0001c0001t0001g0098a0001c0001t0001g0103others(5): Show | 8 | 380 | 0.0211 | -8 | c.252 others(25): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67280792 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG02258.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0160a0001c0001t0002g0161a0001c0001t0002g0186others(15): Show | 18 | 290 | 0.0621 | -8 | c.367 others(25): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67323232 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | NA18955.hp2 NA18980.hp1 NA19059.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0144a0001c0001t0009g0220a0001c0001t0009g0221 | 3 | 290 | 0.0103 | -8 | c.174 others(25): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67326221 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01361.hp2 HG02922.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0137a0001c0001t0005g0275a0001c0001t0005g0277others(3): Show | 6 | 290 | 0.0207 | -8 | c.185 others(27): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67329835 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG00735.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0186a0001c0001t0003g0138a0001c0001t0003g0139others(25): Show | 28 | 290 | 0.0966 | -8 | c.185 others(27): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS1_chr14_67236435_67341061 | 67330142 | AATAATAA others(1): Show |
A | intron_variant | MODIFIER | NA18956.hp1 NA19010.hp1 NA19068.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088a0001c0002t0001g0092a0001c0002t0001g0108 | 3 | 290 | 0.0103 | -8 | c.185 others(27): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24581244 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00609.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(27): Show | a0001c0001t0001g0183a0001c0001t0001g0187a0001c0001t0003g0162others(44): Show | 48 | 378 | 0.1270 | -8 | c.-3+ others(23): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24634087 | ATGAAGTT others(1): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02109.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0037a0001c0001t0135 | a0001c0001t0025g0168a0001c0001t0025g0169a0001c0001t0025g0170others(5): Show | 8 | 378 | 0.0212 | -8 | c.118 others(25): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24662768 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(51): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0007others(21): Show | a0001c0002t0004g0288a0001c0002t0004g0323a0001c0002t0005g0285others(51): Show | 54 | 378 | 0.1429 | -8 | c.652 others(23): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24662789 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02109.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0037a0001c0001t0135 | a0001c0001t0025g0168a0001c0001t0025g0169a0001c0001t0025g0170others(5): Show | 8 | 378 | 0.0212 | -8 | c.652 others(23): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24667657 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(16): Show | a0001c0001t0002g0092a0001c0001t0002g0113a0001c0001t0002g0114others(53): Show | 57 | 378 | 0.1508 | -8 | c.953 others(23): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24674843 | ATTGACAT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(151): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0098a0001c0001t0001g0183a0001c0001t0001g0187others(147): Show | 154 | 378 | 0.4074 | -8 | c.111 others(27): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PALS2_chr7_24568452_24699193 | 24691405 | GTATATAT others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0001t0025a0001c0001t0097others(4): Show | a0001c0001t0011g0037a0001c0001t0011g0038a0001c0001t0011g0039others(17): Show | 20 | 378 | 0.0529 | -8 | c.*38 others(19): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 12/12 | 3824 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
PAMR1_chr11_35426827_35530616 | 35433726 | AGATGGAT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00639.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0002g0001others(65): Show | 72 | 378 | 0.1905 | -8 | c.162 others(25): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 10/10 | chr11 | TogoVar | ||||||
PAMR1_chr11_35426827_35530616 | 35481508 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(116): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015others(116): Show | 119 | 378 | 0.3148 | -8 | c.380 others(25): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
PAMR1_chr11_35426827_35530616 | 35508732 | TGGAACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp1 others(104): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0014others(100): Show | 107 | 378 | 0.2831 | -8 | c.74- others(25): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102779886 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0039 | 2 | 188 | 0.0106 | -8 | c.-37 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102780749 | CTTTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02486.hp2 NA18950.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(4): Show | 7 | 188 | 0.0372 | -8 | c.-37 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102780753 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG01433.hp2 others(31): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0034a0001c0001t0001g0039a0001c0001t0001g0048others(31): Show | 34 | 188 | 0.1809 | -8 | c.-37 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102780835 | CTCTGTCT others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0079a0001c0002t0002g0080a0001c0002t0004g0042 | 3 | 188 | 0.0160 | -8 | c.-37 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102803146 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02818.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0089a0001c0001t0001g0097a0001c0001t0002g0060others(6): Show | 9 | 188 | 0.0479 | -8 | c.-37 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102805064 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02886.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0184a0001c0001t0002g0186a0001c0001t0002g0187others(2): Show | 5 | 188 | 0.0266 | -8 | c.-37 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102841406 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01943.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0002 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0043others(3): Show | 6 | 188 | 0.0319 | -8 | c.-37 others(29): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102882052 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01943.hp1 HG01943.hp2 others(7): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0011 | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0115a0001c0001t0001g0122others(7): Show | 10 | 188 | 0.0532 | -8 | c.210 others(27): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102940115 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02976.hp2 NA19240.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0186a0001c0001t0002g0187a0001c0002t0002g0141 | 3 | 188 | 0.0160 | -8 | c.527 others(25): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102940143 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0043 | 3 | 188 | 0.0160 | -8 | c.527 others(25): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102977658 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02738.hp2 HG02896.hp1 HG03239.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0101a0001c0002t0002g0004a0001c0002t0002g0120 | 3 | 188 | 0.0160 | -8 | c.148 others(27): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 103025430 | ATTTGTTT others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01943.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0066a0001c0001t0001g0104a0001c0001t0001g0105others(6): Show | 9 | 188 | 0.0479 | -8 | c.268 others(25): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |