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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTG2_chr2_945849_1372613 | 1221590 | GTCGCTCT others(140): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG02559.hp2 |
a0002a0005 | a0002c0003a0005c0015 | a0002c0003t0001a0005c0015t0001 | a0002c0003t0001g0138 a0002c0003t0001g0148 a0005c0015t0001g0103 |
3 | 190 | 0.0158 | -147 | c.719 others(19): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55508668 | GGGGGGAG others(140): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 NA19089.hp1 |
a0004a0006 | a0004c0004a0006c0008a0006c0024 | a0004c0004t0001a0006c0008t0001a0006c0024t0001 | a0004c0004t0001g0336 a0006c0008t0001g0216 a0006c0024t0001g0086 |
3 | 412 | 0.0073 | -147 | c.278 others(19): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27241006 | TTATATAT others(140): Show |
T | upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0334 | 1 | 374 | 0.0027 | -147 | c.-33 others(11): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3279 | chr12 | TogoVar | |||||||
STON1_chr2_48525154_48603513 | 48555767 | CGGAGGGC others(140): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0047 | 1 | 376 | 0.0027 | -147 | c.-47 others(19): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 62058076 | TCTACACA others(140): Show |
T | intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0031 | a0002c0031t0001 | a0002c0031t0001g0296 | 1 | 314 | 0.0032 | -147 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 62058517 | TCTACACA others(140): Show |
T | intron_variant | MODIFIER | HG02027.hp2 NA18959.hp1 |
a0001a0002 | a0001c0001a0002c0031 | a0001c0001t0001a0002c0031t0001 | a0001c0001t0001g0136 a0002c0031t0001g0296 |
2 | 314 | 0.0064 | -147 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17704545 | GGGGGGCC others(140): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0075 a0001c0001t0005g0056 |
2 | 162 | 0.0124 | -147 | c.-10 others(21): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
TFDP1_chr13_113579753_113646473 | 113605842 | AGTGGTGA others(140): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0034 others(17): Show |
33 | 348 | 0.0948 | -147 | c.13- others(15): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115618 | AGCGAAGG others(140): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG03831.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0003a0006c0008t0051 | a0001c0001t0003g0435 a0006c0008t0051g0143 |
2 | 444 | 0.0045 | -147 | c.227 others(19): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMEM175_chr4_927460_963656 | 950684 | AGTGTGGA others(140): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 372 | 0.0027 | -147 | c.290 others(15): Show |
TMEM175 | ENSG00000127419.17 | transcript | ENST00000264771.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TMTC2_chr12_82681906_83139866 | 82900433 | ACATATCC others(140): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02055.hp2 others(5): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(2): Show | a0002c0002t0002g0036 a0002c0002t0002g0093 a0002c0002t0003g0043 others(5): Show |
8 | 96 | 0.0833 | -147 | c.148 others(19): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 3/11 | chr12 | TogoVar | |||||||
TRIOBP_chr22_37692048_37781556 | 37723852 | CGCCCAGC others(140): Show |
C | disruptive_inframe_deletion | MODERATE | HG02559.hp2 | a0045 | a0045c0049 | a0045c0049t0024 | a0045c0049t0024g0178 | 1 | 322 | 0.0031 | -147 | c.144 others(9): Show |
p.Ala others(13): Show |
TRIOBP | ENSG00000100106.22 | transcript | ENST00000644935.1 | protein_coding | 7/24 | 1654/10085 | 1443/7098 | 481/2365 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
TRIOBP_chr22_37692048_37781556 | 37724275 | CAACCCCA others(140): Show |
C | disruptive_inframe_deletion | MODERATE | HG01109.hp1 | a0056 | a0056c0062 | a0056c0062t0058 | a0056c0062t0058g0235 | 1 | 322 | 0.0031 | -147 | c.177 others(9): Show |
p.Arg others(13): Show |
TRIOBP | ENSG00000100106.22 | transcript | ENST00000644935.1 | protein_coding | 7/24 | 1984/10085 | 1773/7098 | 591/2365 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
TSNARE1_chr8_142207080_142408182 | 142347633 | CAAGGACA others(140): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 238 | 0.0042 | -147 | c.89- others(15): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121971042 | TCAGCCGC others(140): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02965.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0015a0001c0016others(1): Show | a0001c0001t0010a0001c0015t0018a0001c0016t0047others(3): Show | a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0058 others(5): Show |
8 | 174 | 0.0460 | -147 | c.148 others(19): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667334 | AGATGGTG others(140): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0201 a0001c0001t0004g0361 a0001c0001t0004g0363 others(2): Show |
5 | 482 | 0.0104 | -147 | c.455 others(17): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667382 | TGATGGTG others(140): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0357 | 1 | 482 | 0.0021 | -147 | c.455 others(17): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176859496 | GCCCTTGC others(140): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0083 a0001c0001t0007g0242 a0001c0001t0007g0247 |
3 | 268 | 0.0112 | -147 | c.71- others(15): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
USP13_chr3_179648040_179794401 | 179727911 | GGCCAGGT others(140): Show |
G | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 300 | 0.0033 | -147 | c.108 others(19): Show |
USP13 | ENSG00000058056.10 | transcript | ENST00000263966.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 548393 | TGACTACA others(140): Show |
T | intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0188 | 1 | 232 | 0.0043 | -147 | c.186 others(19): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
WFIKKN1_chr16_625985_639117 | 631733 | CCCACCCC others(140): Show |
C | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0050 | 1 | 404 | 0.0025 | -147 | c.171 others(15): Show |
WFIKKN1 | ENSG00000127578.7 | transcript | ENST00000319070.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
XXYLT1_chr3_195063284_195276159 | 195272798 | AGTAGGCA others(140): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG02976.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0029 | a0001c0001t0003g0099 a0001c0001t0003g0111 a0001c0001t0004g0110 others(1): Show |
4 | 198 | 0.0202 | -147 | c.-18 others(11): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ZNF253_chr19_19860882_19899674 | 19885243 | CTTTCTTT others(140): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0261 | 1 | 370 | 0.0027 | -147 | c.226 others(17): Show |
ZNF253 | ENSG00000256771.5 | transcript | ENST00000589717.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF641_chr12_48332180_48355919 | 48333070 | CGGGGCGG others(140): Show |
C | downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 408 | 0.0025 | -147 | c.*97 others(11): Show |
ZNF641 | ENSG00000167528.13 | transcript | ENST00000547026.6 | protein_coding | 4109 | chr12 | TogoVar | |||||||
ZNF875_chr19_37329649_37369447 | 37350000 | TTGTTGCC others(140): Show |
T | intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 382 | 0.0026 | -147 | c.256 others(17): Show |
ZNF875 | ENSG00000181666.19 | transcript | ENST00000392153.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1153504 | TCCAGGCA others(139): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 337 | 0.0030 | -146 | c.61+ others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195272801 | AGGCAGTG others(139): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0011g0087 others(1): Show |
4 | 324 | 0.0124 | -146 | c.*63 others(11): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1943 | chr3 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288204 | TGTGTCTC others(139): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG03704.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0142 others(1): Show |
4 | 295 | 0.0136 | -146 | c.*52 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4186 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288228 | TCTGCTCC others(139): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp1 NA18966.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 |
3 | 295 | 0.0102 | -146 | c.*51 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4162 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289415 | CCGTGTCT others(139): Show |
C | downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 295 | 0.0034 | -146 | c.*40 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2975 | chr1 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1240060 | GCCTCCCG others(139): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0097 a0001c0001t0018g0027 |
2 | 106 | 0.0189 | -146 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
AGGF1_chr5_77025404_77070234 | 77042787 | ACGGGGCG others(139): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00621.hp1 others(34): Show |
a0001a0005a0006 | a0001c0001a0001c0007a0005c0009others(1): Show | a0001c0001t0004a0001c0001t0021a0001c0007t0004others(2): Show | a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0016 others(28): Show |
37 | 438 | 0.0845 | -146 | c.870 others(17): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15322505 | AATATATA others(139): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0019 a0001c0005t0001g0006 a0001c0005t0001g0007 others(7): Show |
10 | 236 | 0.0424 | -146 | c.126 others(21): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354303 | CGTGTATA others(139): Show |
C | intron_variant | MODIFIER | HG01517.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0152 |
2 | 236 | 0.0085 | -146 | c.126 others(21): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49463528 | TGGGCCTG others(139): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 342 | 0.0029 | -146 | c.109 others(17): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107852 | AGAAAGAA others(139): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0109 a0001c0001t0005g0004 |
3 | 422 | 0.0071 | -146 | c.168 others(17): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ANKRD62_chr18_12088843_12134764 | 12094377 | GTGGTGGG others(139): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02055.hp1 others(11): Show |
a0001a0006 | a0001c0002a0006c0007 | a0001c0002t0011a0001c0002t0041a0006c0007t0010others(1): Show | a0001c0002t0011g0015 a0001c0002t0011g0062 a0001c0002t0011g0063 others(5): Show |
14 | 392 | 0.0357 | -146 | c.218 others(15): Show |
ANKRD62 | ENSG00000181626.12 | transcript | ENST00000587848.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144612258 | CAGAGTGA others(139): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0001 | a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(7): Show |
10 | 246 | 0.0407 | -146 | c.-81 others(17): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARHGEF18_chr19_7343937_7477478 | 7367767 | ATATATAC others(139): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0011 | a0011c0024 | a0011c0024t0015 | a0011c0024t0015g0009 | 1 | 298 | 0.0034 | -146 | c.15+ others(15): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049538 | GGGGGCAG others(139): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02258.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 others(3): Show |
6 | 308 | 0.0195 | -146 | c.*50 others(11): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2565 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049983 | AGAACACA others(139): Show |
A | downstream_gene_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0264 | 1 | 308 | 0.0033 | -146 | c.*46 others(11): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2120 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050031 | CATGGGGG others(139): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0261 a0002c0002t0003g0250 |
2 | 308 | 0.0065 | -146 | c.*45 others(11): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2072 | chr8 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123765735 | CATCTATC others(139): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0179 | 1 | 222 | 0.0045 | -146 | c.*77 others(11): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3981 | chr12 | TogoVar | |||||||
BNIP3_chr10_131962684_131986923 | 131986622 | ATGAAGCC others(139): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 438 | 0.0023 | -146 | c.-49 others(11): Show |
BNIP3 | ENSG00000176171.12 | transcript | ENST00000368636.9 | protein_coding | 4700 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126508280 | TGGGGATA others(139): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01243.hp1 others(34): Show |
a0002a0003a0005others(4): Show | a0002c0004a0002c0011a0002c0012others(9): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0006others(22): Show | a0002c0004t0001g0017 a0002c0004t0001g0021 a0002c0004t0001g0030 others(34): Show |
37 | 218 | 0.1697 | -146 | c.406 others(17): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 400582 | GGGTTCCC others(139): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01358.hp2 HG01943.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0012a0001c0001t0016others(5): Show | a0001c0001t0007g0019 a0001c0001t0012g0029 a0001c0001t0016g0014 others(5): Show |
10 | 322 | 0.0311 | -146 | c.*63 others(11): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 4862 | chr19 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318483 | AGGGAAAG others(139): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp2 HG02135.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0296 a0001c0001t0002g0115 a0001c0001t0002g0141 others(3): Show |
6 | 324 | 0.0185 | -146 | c.835 others(17): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44227446 | AGACAGAG others(139): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0005 | a0002c0005t0031 | a0002c0005t0031g0198 | 1 | 242 | 0.0041 | -146 | c.146 others(17): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CCDC17_chr1_45615044_45629054 | 45625363 | TTTTTTTG others(139): Show |
T | upstream_gene_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 434 | 0.0023 | -146 | c.-16 others(11): Show |
CCDC17 | ENSG00000159588.15 | transcript | ENST00000528266.6 | protein_coding | 1310 | chr1 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420426 | CACATAGC others(139): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0148 | 1 | 432 | 0.0023 | -146 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |