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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHEK1_chr11_125620163_125662147 | 125625842 | T | C | 5_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0024a0001c0001t0007g0062a0001c0001t0007g0063 | 4 | 384 | 0.0104 | 0 | c.-19 others(4): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 1/13 | 927 | chr11 | TogoVar | |||||
CHEK1_chr11_125620163_125662147 | 125625845 | A | G | 5_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01074.hp2 others(36): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(2): Show | a0001c0001t0005g0008a0001c0001t0005g0044a0001c0001t0005g0045others(26): Show | 39 | 384 | 0.1016 | 0 | c.-18 others(4): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 1/13 | 924 | chr11 | TogoVar | |||||
CHEK1_chr11_125620163_125662147 | 125625851 | C | G | 5_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01074.hp2 others(36): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(2): Show | a0001c0001t0005g0008a0001c0001t0005g0044a0001c0001t0005g0045others(26): Show | 39 | 384 | 0.1016 | 0 | c.-18 others(4): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 1/13 | 918 | chr11 | TogoVar | |||||
CHEK2_chr22_28682743_28746820 | 28741802 | C | A | 5_prime_UTR_variant | MODIFIER | HG01891.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0379a0001c0002t0002g0380 | 2 | 384 | 0.0052 | 0 | c.-40 others(3): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 1/15 | 7081 | chr22 | TogoVar | |||||
CHERP_chr19_16512894_16547437 | 16542385 | G | C | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0230 | 1 | 330 | 0.0030 | 0 | c.-7C others(2): Show |
CHERP | ENSG00000085872.15 | transcript | ENST00000546361.7 | protein_coding | 1/17 | 7 | chr19 | TogoVar | |||||
CHGA_chr14_92918150_92940285 | 92923215 | C | G | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 2 | 447 | 0.0045 | 0 | c.-14 others(4): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 1/8 | 145 | chr14 | TogoVar | |||||
CHGA_chr14_92918150_92940285 | 92923243 | C | A | 5_prime_UTR_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0038 | 1 | 447 | 0.0022 | 0 | c.-11 others(4): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 1/8 | 117 | chr14 | TogoVar | |||||
CHGA_chr14_92918150_92940285 | 92923258 | G | C | 5_prime_UTR_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0004 | 1 | 447 | 0.0022 | 0 | c.-10 others(4): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 1/8 | 102 | chr14 | TogoVar | |||||
CHGA_chr14_92918150_92940285 | 92923293 | G | A | 5_prime_UTR_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0083 | 1 | 447 | 0.0022 | 0 | c.-67 others(3): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 1/8 | 67 | chr14 | TogoVar | |||||
CHGB_chr20_5906510_5930353 | 5911576 | T | C | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0005a0002c0002t0003a0003c0003t0003others(2): Show | a0001c0001t0005g0082a0002c0002t0003g0065a0002c0002t0003g0067others(32): Show | 66 | 440 | 0.1500 | 0 | c.-58 others(3): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 1/5 | 58 | chr20 | TogoVar | |||||
CHIA_chr1_111285851_111325563 | 111290866 | C | CCT | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0013a0002c0002others(9): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0001others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(118): Show | 213 | 426 | 0.5000 | 2 | c.-15 others(11): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 1/12 | 19598 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CHIA_chr1_111285851_111325563 | 111290873 | G | A | 5_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02896.hp2 others(5): Show |
a0005a0013 | a0005c0008a0013c0021 | a0005c0008t0005a0013c0021t0005 | a0005c0008t0005g0016a0005c0008t0005g0129a0005c0008t0005g0138others(2): Show | 8 | 426 | 0.0188 | 0 | c.-14 others(4): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 1/12 | 19595 | chr1 | TogoVar | |||||
CHIA_chr1_111285851_111325563 | 111290895 | G | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0013a0002c0002others(9): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0001others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(118): Show | 213 | 426 | 0.5000 | 0 | c.-12 others(4): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 1/12 | 19573 | chr1 | TogoVar | |||||
CHIA_chr1_111285851_111325563 | 111310403 | C | G | 5_prime_UTR_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0001 | 1 | 426 | 0.0024 | 0 | c.-65 others(3): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 2/12 | 65 | chr1 | TogoVar | |||||
CHIA_chr1_111285851_111325563 | 111310438 | A | AGCCAATC others(3): Show |
5_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01081.hp2 others(35): Show |
a0004a0010a0011 | a0004c0004a0004c0007a0004c0022others(2): Show | a0004c0004t0003a0004c0004t0004a0004c0007t0003others(4): Show | a0004c0004t0003g0013a0004c0004t0003g0032a0004c0004t0003g0059others(27): Show | 38 | 426 | 0.0892 | 10 | c.-28 others(17): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 2/12 | 27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CHIA_chr1_111285851_111325563 | 111310455 | G | T | 5_prime_UTR_variant | MODIFIER | NA18952.hp1 NA18999.hp1 NA19056.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0001 | 3 | 426 | 0.0070 | 0 | c.-13 others(3): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 2/12 | 13 | chr1 | TogoVar | |||||
CHIC2_chr4_54004789_54069605 | 54064347 | T | C | 5_prime_UTR_variant | MODIFIER | HG02818.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0218a0001c0001t0007g0219 | 2 | 244 | 0.0082 | 0 | c.-47 others(3): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1/6 | 47 | chr4 | TogoVar | |||||
CHIC2_chr4_54004789_54069605 | 54064527 | C | T | 5_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0019 | 1 | 244 | 0.0041 | 0 | c.-22 others(4): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1/6 | 227 | chr4 | TogoVar | |||||
CHKA_chr11_68047859_68126388 | 68121220 | G | A | 5_prime_UTR_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0154a0001c0001t0011g0155 | 2 | 276 | 0.0073 | 0 | c.-43 others(3): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/12 | 43 | chr11 | TogoVar | |||||
CHKA_chr11_68047859_68126388 | 68121326 | G | A | 5_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00621.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0264a0001c0001t0012g0265 | 2 | 276 | 0.0073 | 0 | c.-14 others(4): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/12 | 149 | chr11 | TogoVar | |||||
CHKA_chr11_68047859_68126388 | 68121326 | G | GCTGCGGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(107): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0157a0001c0001t0001g0158others(106): Show | 110 | 276 | 0.3986 | 9 | c.-15 others(18): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/12 | 150 | chr11 | TogoVar | |||||
CHKA_chr11_68047859_68126388 | 68121331 | G | C | 5_prime_UTR_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0266 | 1 | 276 | 0.0036 | 0 | c.-15 others(4): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/12 | 154 | chr11 | TogoVar | |||||
CHKA_chr11_68047859_68126388 | 68121342 | C | CGACTGTG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0267a0001c0001t0006g0268a0001c0001t0006g0269others(6): Show | 9 | 276 | 0.0326 | 9 | c.-17 others(18): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/12 | 166 | chr11 | TogoVar | |||||
CHKB_chr22_50573963_50587849 | 50582800 | C | A | 5_prime_UTR_variant | MODIFIER | HG02165.hp2 HG03017.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 3 | 416 | 0.0072 | 0 | c.-19 others(3): Show |
CHKB | ENSG00000100288.20 | transcript | ENST00000406938.3 | protein_coding | 1/11 | 19 | chr22 | TogoVar | |||||
CHKB_chr22_50573963_50587849 | 50582808 | C | T | 5_prime_UTR_variant | MODIFIER | HG02165.hp2 HG03017.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 3 | 416 | 0.0072 | 0 | c.-27 others(3): Show |
CHKB | ENSG00000100288.20 | transcript | ENST00000406938.3 | protein_coding | 1/11 | 27 | chr22 | TogoVar | |||||
CHKB_chr22_50573963_50587849 | 50582829 | C | A | 5_prime_UTR_variant | MODIFIER | HG01261.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 2 | 416 | 0.0048 | 0 | c.-48 others(3): Show |
CHKB | ENSG00000100288.20 | transcript | ENST00000406938.3 | protein_coding | 1/11 | 48 | chr22 | TogoVar | |||||
CHKB_chr22_50573963_50587849 | 50582835 | GGCTCGGT others(13): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(62): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0008a0004c0005t0002 | a0001c0001t0002g0002a0001c0001t0002g0016a0001c0001t0002g0024others(2): Show | 65 | 416 | 0.1563 | -20 | c.-74 others(27): Show |
CHKB | ENSG00000100288.20 | transcript | ENST00000406938.3 | protein_coding | 1/11 | 55 | chr22 | TogoVar | |||||
CHL1_chr3_191763_414417 | 196883 | G | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(79): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0028others(10): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(28): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0005others(79): Show | 82 | 290 | 0.2828 | 0 | c.-35 others(4): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/28 | 122894 | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 196890 | A | G | 5_prime_UTR_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0003 | a0003c0003t0058 | a0003c0003t0058g0208 | 1 | 290 | 0.0035 | 0 | c.-34 others(4): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/28 | 122887 | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 196920 | G | A | 5_prime_UTR_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0113 | 1 | 290 | 0.0035 | 0 | c.-31 others(4): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/28 | 122857 | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 196956 | C | G | 5_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01167.hp1 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0003a0001c0001t0033a0001c0001t0052others(16): Show | a0001c0001t0003g0112a0001c0001t0003g0114a0001c0001t0003g0115others(34): Show | 37 | 290 | 0.1276 | 0 | c.-28 others(4): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/28 | 122821 | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 244631 | C | T | 5_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0009 | a0009c0010 | a0009c0010t0048 | a0009c0010t0048g0211 | 1 | 290 | 0.0035 | 0 | c.-15 others(4): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/28 | 75146 | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 319773 | A | G | 5_prime_UTR_variant | MODIFIER | HG03453.hp2 NA19043.hp2 |
a0003a0019 | a0003c0003a0019c0022 | a0003c0003t0046a0019c0022t0032 | a0003c0003t0046g0283a0019c0022t0032g0240 | 2 | 290 | 0.0069 | 0 | c.-4A others(2): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 3/28 | 4 | chr3 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241635774 | A | C | 5_prime_UTR_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0049 | 1 | 452 | 0.0022 | 0 | c.-8T others(2): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 2/2 | 8 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241635904 | A | T | 5_prime_UTR_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0069 | 1 | 452 | 0.0022 | 0 | c.-13 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 2/2 | 138 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241635905 | C | A | 5_prime_UTR_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0069 | 1 | 452 | 0.0022 | 0 | c.-13 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 2/2 | 139 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241635906 | C | T | 5_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0028 | 3 | 452 | 0.0066 | 0 | c.-14 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 2/2 | 140 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241635962 | A | G | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0055 | 1 | 452 | 0.0022 | 0 | c.-19 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 2/2 | 196 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241636047 | A | G | 5_prime_UTR_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0047 | 1 | 452 | 0.0022 | 0 | c.-28 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 2/2 | 281 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241640015 | C | G | 5_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG02965.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0015a0001c0002t0021 | a0001c0002t0015g0017a0001c0002t0015g0046a0001c0002t0021g0025 | 9 | 452 | 0.0199 | 0 | c.-44 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/2 | 4249 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241640271 | G | T | 5_prime_UTR_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0045 | 1 | 452 | 0.0022 | 0 | c.-69 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/2 | 4505 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241640288 | G | A | 5_prime_UTR_variant | MODIFIER | HG01243.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0042 | 2 | 452 | 0.0044 | 0 | c.-71 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/2 | 4522 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241640296 | T | G | 5_prime_UTR_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0091 | 1 | 452 | 0.0022 | 0 | c.-72 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/2 | 4530 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241640334 | T | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(375): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(72): Show | a0001c0001t0001g0083a0001c0001t0002g0001a0001c0001t0002g0070others(86): Show | 378 | 452 | 0.8363 | 0 | c.-76 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/2 | 4568 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241640337 | G | C | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG01261.hp1 HG01884.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020a0001c0001t0024others(2): Show | a0001c0001t0007g0006a0001c0001t0020g0023a0001c0001t0024g0043others(3): Show | 22 | 452 | 0.0487 | 0 | c.-76 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/2 | 4571 | chr1 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241640356 | A | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(376): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(73): Show | a0001c0001t0001g0083a0001c0001t0002g0001a0001c0001t0002g0070others(87): Show | 379 | 452 | 0.8385 | 0 | c.-78 others(4): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/2 | 4590 | chr1 | TogoVar | |||||
CHMP1A_chr16_89639435_89662708 | 89657619 | G | A | 5_prime_UTR_variant | MODIFIER | HG02818.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0352a0001c0002t0013g0353 | 2 | 392 | 0.0051 | 0 | c.-31 others(3): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 1/7 | 31 | chr16 | TogoVar | |||||
CHMP1B_chr18_11846413_11859444 | 11851448 | C | T | 5_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028 | a0001c0001t0004g0000a0001c0001t0028g0000 | 13 | 438 | 0.0297 | 0 | c.-64 others(3): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 1/1 | 64 | chr18 | TogoVar | |||||
CHMP1B_chr18_11846413_11859444 | 11851481 | C | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(87): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0002g0000a0001c0001t0008g0000a0001c0001t0011g0000others(3): Show | 90 | 438 | 0.2055 | 0 | c.-31 others(3): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 1/1 | 31 | chr18 | TogoVar | |||||
CHMP2A_chr19_58546566_58560105 | 58554223 | G | A | 5_prime_UTR_variant | MODIFIER | HG02647.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 2 | 420 | 0.0048 | 0 | c.-11 others(3): Show |
CHMP2A | ENSG00000130724.10 | transcript | ENST00000312547.7 | protein_coding | 2/6 | 11 | chr19 | TogoVar |