view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGPAT4_chr6_161124967_161279061 | 161233109 | CCACACAC others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0129 | 1 | 111 | 0.0090 | -22 | c.-89 others(37): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85572002 | GTGTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG04204.hp2 NA18978.hp2 NA18989.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0023 a0001c0001t0001g0093 a0001c0001t0001g0102 others(1): Show |
4 | 203 | 0.0197 | -22 | c.350 others(41): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35028558 | TGAGAGAG others(15): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02976.hp1 others(4): Show |
a0003a0006a0009others(1): Show | a0003c0006a0006c0007a0009c0010others(1): Show | a0003c0006t0002a0006c0007t0001a0006c0007t0003others(3): Show | a0003c0006t0002g0123 a0006c0007t0001g0072 a0006c0007t0001g0107 others(4): Show |
7 | 26 | 0.2692 | -22 | c.770 others(39): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222689479 | GTGTATAT others(15): Show |
G | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 247 | 0.0040 | -22 | c.290 others(39): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70133098 | AAGAGAGA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0040others(9): Show | a0001c0001t0001g0027 a0001c0001t0001g0157 a0001c0001t0001g0161 others(36): Show |
50 | 104 | 0.4808 | -22 | c.-40 others(31): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 274 | chr10 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106350000 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp1 HG02257.hp2 NA18988.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0214 a0002c0002t0002g0053 a0002c0002t0002g0205 |
3 | 23 | 0.1304 | -22 | c.*23 others(33): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | |||||||
AJM1_chr9_136837478_136853801 | 136847421 | CCCAGGGC others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0001 | 1 | 362 | 0.0028 | -22 | c.*85 others(30): Show |
AJM1 | ENSG00000232434.3 | transcript | ENST00000436881.3 | protein_coding | 3/3 | 85 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AK1_chr9_127861486_127882675 | 127871733 | TGCATCAC others(15): Show |
T | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 424 | 0.0024 | -22 | c.324 others(35): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65152316 | ATCTCTCT others(15): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0173 | 1 | 235 | 0.0043 | -22 | c.145 others(39): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77470826 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02129.hp1 HG02965.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0108 a0001c0001t0003g0147 others(6): Show |
9 | 145 | 0.0621 | -22 | c.106 others(43): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK6_chr5_69345984_69374520 | 69372726 | CTTAGCCC others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 420 | 0.0024 | -22 | c.-32 others(33): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 3207 | chr5 | TogoVar | |||||||
AKAIN1_chr18_5137911_5202257 | 5162625 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01192.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0212 a0001c0001t0001g0213 others(21): Show |
28 | 147 | 0.1905 | -22 | c.17- others(39): Show |
AKAIN1 | ENSG00000231824.4 | transcript | ENST00000434239.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19949826 | TTTCTCTC others(15): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 276 | 0.0036 | -22 | c.878 others(39): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151304488 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 HG02896.hp2 others(7): Show |
a0002a0007a0008others(4): Show | a0002c0001a0007c0021a0007c0030others(5): Show | a0002c0001t0044a0007c0021t0048a0007c0030t0016others(6): Show | a0002c0001t0044g0169 a0007c0021t0048g0019 a0007c0030t0016g0114 others(7): Show |
10 | 27 | 0.3704 | -22 | c.163 others(39): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85702239 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | NA18991.hp2 NA19004.hp2 NA19068.hp1 |
a0002 | a0002c0001 | a0002c0001t0007a0002c0001t0035 | a0002c0001t0007g0235 a0002c0001t0007g0258 a0002c0001t0035g0171 |
3 | 140 | 0.0214 | -22 | c.546 others(41): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85748541 | TTTCCTTT others(15): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01928.hp2 HG01981.hp1 HG02300.hp1 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0023a0001c0012t0023 | a0001c0004t0023g0046 a0001c0004t0023g0047 a0001c0012t0023g0265 |
3 | 312 | 0.0096 | -22 | c.*38 others(33): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 37/37 | 3870 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP14_chrX_119890893_119925716 | 119893990 | CAAAAAAA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02647.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0077 others(8): Show |
13 | 241 | 0.0539 | -22 | c.-21 others(33): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 1902 | chrX | TogoVar | |||||||
AKAP6_chr14_32324298_32842684 | 32352081 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0008 | a0006c0008t0012 | a0006c0008t0012g0038 | 1 | 152 | 0.0066 | -22 | c.-35 others(41): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32745461 | TTCTCTCT others(15): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG03130.hp1 others(3): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0019a0002c0003others(3): Show | a0001c0001t0008a0001c0019t0001a0002c0003t0006others(3): Show | a0001c0001t0008g0129 a0001c0019t0001g0002 a0002c0003t0006g0108 others(3): Show |
6 | 26 | 0.2308 | -22 | c.337 others(41): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131247269 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG03209.hp2 NA19043.hp1 NA19043.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0020a0002c0002t0037others(1): Show | a0001c0001t0001g0225 a0002c0002t0020g0150 a0002c0002t0037g0162 others(1): Show |
4 | 40 | 0.1000 | -22 | c.850 others(41): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15360086 | GATCGTGC others(15): Show |
G | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 284 | 0.0035 | -22 | c.152 others(39): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 12/13 | chr19 | TogoVar | |||||||
AKAP9_chr7_91935862_92115673 | 92074114 | CTATCCAT others(15): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 304 | 0.0033 | -22 | c.661 others(41): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 28/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1C8_chr10_5148920_5190150 | 5163839 | TGCCTTTG others(15): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03471.hp1 |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0161 a0004c0005t0004g0217 |
2 | 406 | 0.0049 | -22 | c.94- others(35): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AKR1C8_chr10_5148920_5190150 | 5179600 | TCACTTTC others(15): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0238 |
5 | 406 | 0.0123 | -22 | c.93+ others(37): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AKT1_chr14_104764349_104800748 | 104768786 | CCCTGCAG others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0224 | 1 | 384 | 0.0026 | -22 | c.*15 others(33): Show |
AKT1 | ENSG00000142208.18 | transcript | ENST00000649815.2 | protein_coding | 562 | chr14 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243526778 | TTAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 12 | 0.0833 | -22 | c.125 others(43): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527533 | TCAGCATA others(15): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0176 | 1 | 300 | 0.0033 | -22 | c.125 others(43): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527870 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 227 | 0.0044 | -22 | c.125 others(43): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527918 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0025 | 1 | 296 | 0.0034 | -22 | c.125 others(43): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243693243 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 135 | 0.0074 | -22 | c.172 others(39): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243699465 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(69): Show |
72 | 90 | 0.8000 | -22 | c.47- others(37): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243832120 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0278 | 1 | 26 | 0.0385 | -22 | c.46+ others(39): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
ALAS1_chr3_52193160_52219327 | 52193973 | AAAAGAAA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 352 | 0.0028 | -22 | c.-44 others(33): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4186 | chr3 | TogoVar | |||||||
ALAS1_chr3_52193160_52219327 | 52216458 | GCAGTGAG others(15): Show |
G | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 352 | 0.0028 | -22 | c.*22 others(33): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 2132 | chr3 | TogoVar | |||||||
ALAS2_chrX_55004055_55035977 | 55015959 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0002g0077 others(2): Show |
5 | 88 | 0.0568 | -22 | c.100 others(39): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 7/10 | chrX | TogoVar | |||||||
ALDH1A1_chr9_72895671_72958053 | 72908605 | AAGAAAGA others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0167 |
2 | 304 | 0.0066 | -22 | c.135 others(39): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105036510 | TATTTTAT others(15): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0187 | 1 | 372 | 0.0027 | -22 | c.214 others(41): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105036514 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02738.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0010 | a0001c0001t0001g0225 a0001c0002t0010g0074 a0001c0002t0010g0075 others(1): Show |
4 | 245 | 0.0163 | -22 | c.214 others(41): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105036545 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0020 |
2 | 384 | 0.0052 | -22 | c.214 others(41): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105046179 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | NA18952.hp2 NA18970.hp1 NA19000.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0250 a0001c0001t0005g0316 a0001c0001t0005g0319 others(3): Show |
6 | 375 | 0.0160 | -22 | c.186 others(39): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105046181 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00408.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 a0001c0001t0005g0320 |
2 | 377 | 0.0053 | -22 | c.186 others(39): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105046183 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0161 | 1 | 383 | 0.0026 | -22 | c.186 others(39): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67670032 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 | 1 | 388 | 0.0026 | -22 | c.-24 others(41): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130099980 | AACACACA others(15): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01358.hp1 HG02717.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0088 a0001c0001t0001g0103 others(7): Show |
12 | 72 | 0.1667 | -22 | c.*17 others(33): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1591 | chr3 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400244 | CGTATATA others(15): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0324 a0001c0001t0004g0325 |
2 | 323 | 0.0062 | -22 | c.168 others(39): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400268 | CGTATATA others(15): Show |
C | intron_variant | MODIFIER | NA18522.hp2 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0014 | a0001c0003t0012g0233 a0001c0003t0014g0234 |
2 | 382 | 0.0052 | -22 | c.168 others(39): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29705260 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp1 HG02738.hp1 |
a0002a0003 | a0002c0007a0003c0003a0003c0031 | a0002c0007t0001a0003c0003t0002a0003c0031t0002 | a0002c0007t0001g0066 a0003c0003t0002g0065 a0003c0031t0002g0030 |
3 | 80 | 0.0375 | -22 | c.788 others(41): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02071.hp2 HG02280.hp1 others(2): Show |
a0001a0003a0004 | a0001c0025a0003c0003a0003c0024others(2): Show | a0001c0025t0011a0003c0003t0002a0003c0024t0009others(2): Show | a0001c0025t0011g0074 a0003c0003t0002g0038 a0003c0024t0009g0075 others(2): Show |
5 | 27 | 0.1852 | -22 | c.667 others(41): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830713 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0049 | 1 | 57 | 0.0175 | -22 | c.667 others(41): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29889687 | TAGATAGA others(15): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02486.hp2 HG02895.hp2 others(2): Show |
a0001a0003a0006 | a0001c0009a0001c0051a0003c0010others(1): Show | a0001c0009t0005a0001c0051t0001a0003c0010t0006others(1): Show | a0001c0009t0005g0018 a0001c0051t0001g0019 a0003c0010t0006g0001 others(2): Show |
5 | 57 | 0.0877 | -22 | c.667 others(41): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar |