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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LOC128462377_chr16_89312046_89423292 | 89342040 | C | CGGCCACG others(959): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 366 | 0.0027 | 966 | c.10- others(983): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(959): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02165.hp1 NA18999.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 a0001c0001t0002g0175 a0001c0001t0002g0231 others(2): Show |
5 | 264 | 0.0189 | 966 | c.180 others(985): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(959): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0001 | 1 | 194 | 0.0052 | 966 | c.-12 others(985): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(959): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0035 | a0035c0036 | a0035c0036t0001 | a0035c0036t0001g0166 | 1 | 280 | 0.0036 | 966 | c.641 others(981): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544181 | G | GGGACAGT others(959): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 286 | 0.0035 | 966 | c.153 others(985): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(959): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 272 | 0.0074 | 966 | c.250 others(981): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(959): Show |
intron_variant | MODIFIER | HG00621.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0121 |
2 | 272 | 0.0074 | 966 | c.250 others(981): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(959): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 272 | 0.0037 | 966 | c.250 others(981): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(959): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0320 | 1 | 324 | 0.0031 | 966 | c.140 others(983): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(959): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0145 | 1 | 208 | 0.0048 | 966 | c.279 others(981): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(959): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0011 | a0011c0020 | a0011c0020t0001 | a0011c0020t0001g0144 | 1 | 208 | 0.0048 | 966 | c.279 others(981): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(959): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 208 | 0.0048 | 966 | c.279 others(981): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(959): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 208 | 0.0048 | 966 | c.279 others(981): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841443 | T | TCCACCCT others(959): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 242 | 0.0041 | 966 | c.361 others(985): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(959): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 279 | 0.0036 | 966 | c.215 others(983): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(959): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0104 | 1 | 346 | 0.0029 | 966 | c.176 others(985): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(959): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03017.hp1 |
a0002a0044 | a0002c0002a0044c0049 | a0002c0002t0001a0044c0049t0001 | a0002c0002t0001g0068 a0044c0049t0001g0066 |
2 | 308 | 0.0065 | 966 | c.371 others(983): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(959): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02735.hp2 HG03491.hp2 others(9): Show |
a0002a0011a0016others(2): Show | a0002c0002a0002c0046a0011c0011others(3): Show | a0002c0002t0001a0002c0046t0001a0011c0011t0001others(3): Show | a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0086 others(9): Show |
12 | 308 | 0.0390 | 966 | c.371 others(983): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23982176 | T | TCCCTTTC others(959): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02155.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0001t0029a0001c0002t0052 | a0001c0001t0021g0006 a0001c0001t0029g0083 a0001c0002t0052g0127 |
3 | 148 | 0.0203 | 966 | c.206 others(983): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304024 | A | ATGGGGAG others(959): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0012 | a0012c0022 | a0012c0022t0029 | a0012c0022t0029g0103 | 1 | 133 | 0.0075 | 966 | c.351 others(985): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 304067 | A | AGCAGTGA others(959): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 133 | 0.0075 | 966 | c.351 others(985): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(959): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008 a0001c0002t0001g0001 |
4 | 412 | 0.0097 | 966 | c.-48 others(977): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 507670 | A | ACAGACGC others(959): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0153 | 1 | 218 | 0.0046 | 966 | c.212 others(985): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(959): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 |
3 | 186 | 0.0161 | 966 | c.-50 others(977): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(959): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0070 | 1 | 268 | 0.0037 | 966 | c.*73 others(977): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377214 | G | GCCCCACC others(959): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0106 | 1 | 370 | 0.0027 | 966 | c.-12 others(977): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1189 | chr19 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(959): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0390 | 1 | 444 | 0.0023 | 966 | c.227 others(985): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(959): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0206 | 1 | 444 | 0.0023 | 966 | c.227 others(985): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115870 | G | AGCGAAGG others(959): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0352 | 1 | 444 | 0.0023 | 966 | c.227 others(985): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(959): Show |
downstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 966 | c.*24 others(977): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024649 | A | AATTTCAC others(959): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 144 | 0.0069 | 966 | c.427 others(985): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZSCAN22_chr19_58321994_58347332 | 58326617 | T | TCTCACAC others(959): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0025 a0001c0001t0016g0070 |
2 | 400 | 0.0050 | 966 | c.-54 others(975): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 376 | chr19 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100276332 | G | GGGTGGGA others(960): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04199.hp2 |
a0002a0007 | a0002c0069a0007c0023 | a0002c0069t0013a0007c0023t0026 | a0002c0069t0013g0032 a0007c0023t0026g0031 |
2 | 228 | 0.0088 | 967 | c.789 others(984): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACGG others(960): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0326 | 1 | 368 | 0.0027 | 967 | c.401 others(984): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461400 | T | TCTGGACT others(960): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0057 | 1 | 342 | 0.0029 | 967 | c.578 others(982): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461400 | T | TCTGGACT others(960): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0058 | 1 | 342 | 0.0029 | 967 | c.578 others(982): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(960): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0275 | 1 | 320 | 0.0031 | 967 | c.380 others(984): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(960): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 320 | 0.0031 | 967 | c.380 others(984): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(960): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0087 |
2 | 320 | 0.0063 | 967 | c.380 others(984): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(960): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 320 | 0.0031 | 967 | c.380 others(984): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(960): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0017 | 1 | 272 | 0.0037 | 967 | c.109 others(986): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725401 | G | GGCAGAGA others(960): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0262 | 1 | 324 | 0.0031 | 967 | c.340 others(984): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1164157 | C | CCCCCCAG others(960): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 40 | 0.0250 | 967 | c.74- others(984): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92705593 | T | TGTGGTGT others(960): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02976.hp2 |
a0024a0032 | a0024c0037a0032c0083 | a0024c0037t0056a0032c0083t0072 | a0024c0037t0056g0100 a0032c0083t0072g0013 |
2 | 118 | 0.0170 | 967 | c.366 others(986): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GCAT_chr22_37802934_37821897 | 37817170 | C | CGAAATTA others(960): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0061 | 1 | 390 | 0.0026 | 967 | c.*45 others(976): Show |
GCAT | ENSG00000100116.17 | transcript | ENST00000248924.11 | protein_coding | 274 | chr22 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(960): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 350 | 0.0029 | 967 | c.94- others(980): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189685 | G | GAGGGAGG others(960): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 62 | 0.0161 | 967 | c.-36 others(988): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930516 | C | CCCCCACT others(960): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 264 | 0.0038 | 967 | c.180 others(986): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(960): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 264 | 0.0038 | 967 | c.180 others(986): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(960): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0212 | 1 | 278 | 0.0036 | 967 | c.115 others(984): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |