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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSMF1_chr20_1113602_1177246 | 1114732 | TCAAGGGG others(70): Show |
T | upstream_gene_variant | MODIFIER | NA18941.hp2 NA18952.hp2 NA18953.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 others(2): Show |
5 | 326 | 0.0153 | -77 | c.-40 others(88): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3869 | chr20 | TogoVar | |||||||
PSMF1_chr20_1113602_1177246 | 1114980 | CGGAGCTG others(70): Show |
C | upstream_gene_variant | MODIFIER | NA18941.hp2 NA18952.hp2 NA18953.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 others(2): Show |
5 | 326 | 0.0153 | -77 | c.-37 others(88): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3621 | chr20 | TogoVar | |||||||
PSMF1_chr20_1113602_1177246 | 1115183 | GCAGTGTT others(70): Show |
G | upstream_gene_variant | MODIFIER | HG02135.hp2 NA18939.hp1 NA18962.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0019 a0002c0002t0008g0252 |
3 | 326 | 0.0092 | -77 | c.-35 others(88): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3418 | chr20 | TogoVar | |||||||
PSMF1_chr20_1113602_1177246 | 1115197 | CGGGGTGG others(70): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp1 NA19087.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0036 | a0002c0002t0002g0235 a0003c0004t0036g0024 |
2 | 326 | 0.0061 | -77 | c.-35 others(88): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3404 | chr20 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1710731 | TCTCCACC others(70): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0111 | 1 | 322 | 0.0031 | -77 | c.201 others(96): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXMP4_chr20_33697758_33725310 | 33724980 | ATCAGGCC others(70): Show |
A | upstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 388 | 0.0026 | -77 | c.-48 others(88): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 4671 | chr20 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121365516 | ATTATATA others(70): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 a0001c0001t0002g0252 a0001c0001t0002g0253 |
3 | 384 | 0.0078 | -77 | c.340 others(96): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136234723 | GGCTTGGG others(70): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01261.hp2 HG01496.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(16): Show | a0001c0001t0002g0320 a0001c0001t0008g0191 a0001c0001t0008g0199 others(23): Show |
28 | 392 | 0.0714 | -77 | c.329 others(94): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504617 | TTCCTGTA others(70): Show |
T | intron_variant | MODIFIER | HG03471.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0257 a0001c0001t0011g0258 |
2 | 295 | 0.0068 | -77 | c.139 others(94): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60548430 | CAGAGTGG others(70): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(176): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0002g0029 a0001c0001t0002g0081 a0001c0001t0002g0082 others(175): Show |
179 | 358 | 0.5000 | -77 | c.47- others(94): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114020103 | CCCCCCTC others(70): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 67 | 0.0149 | -77 | c.785 others(94): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 9/23 | chr13 | TogoVar | |||||||
RBL1_chr20_36991349_37100997 | 37012569 | GGTGAGGA others(70): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0190 |
2 | 354 | 0.0057 | -77 | c.272 others(96): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 19/21 | chr20 | TogoVar | |||||||
RBL1_chr20_36991349_37100997 | 37012584 | TGCCCAGC others(70): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG02145.hp1 others(7): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0001c0001t0006a0008c0012t0006 | a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0101 others(7): Show |
10 | 354 | 0.0283 | -77 | c.272 others(96): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 19/21 | chr20 | TogoVar | |||||||
RHPN1_chr8_143363876_143389221 | 143373187 | TGGGTTCC others(70): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp1 others(42): Show |
a0001a0003a0007 | a0001c0001a0003c0006a0007c0013 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0005g0014 a0001c0001t0005g0016 a0001c0001t0005g0032 others(23): Show |
45 | 426 | 0.1056 | -77 | c.61- others(92): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RHPN1_chr8_143363876_143389221 | 143373455 | CGGGTTCC others(70): Show |
C | intron_variant | MODIFIER | HG02647.hp1 NA20129.hp1 |
a0001a0006 | a0001c0016a0006c0011 | a0001c0016t0028a0006c0011t0030 | a0001c0016t0028g0113 a0006c0011t0030g0086 |
2 | 426 | 0.0047 | -77 | c.61- others(92): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RHPN1_chr8_143363876_143389221 | 143373569 | CGTGGGTT others(70): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 426 | 0.0024 | -77 | c.61- others(92): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RPS27L_chr15_63143249_63162477 | 63149543 | GGCGACGG others(70): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(11): Show | a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0026 others(16): Show |
86 | 430 | 0.2000 | -77 | c.*44 others(88): Show |
RPS27L | ENSG00000185088.14 | transcript | ENST00000330964.10 | protein_coding | 4/4 | 4412 | chr15 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3173799 | GCCTGTGT others(70): Show |
G | upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -77 | c.-49 others(88): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4969 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3174249 | CCTCATGG others(70): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
6 | 418 | 0.0144 | -77 | c.-45 others(88): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4519 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3174613 | TCTCATGG others(70): Show |
T | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -77 | c.-41 others(88): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4155 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3175611 | CCCTCATG others(70): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 418 | 0.0024 | -77 | c.-31 others(88): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 3157 | chr19 | TogoVar | |||||||
SARM1_chr17_28366694_28409049 | 28371575 | CCCGGGGA others(70): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(13): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0015 others(54): Show |
80 | 336 | 0.2381 | -77 | c.-45 others(86): Show |
SARM1 | ENSG00000004139.14 | transcript | ENST00000585482.6 | protein_coding | 118 | chr17 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199343131 | CACACACA others(70): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 254 | 0.0039 | -77 | c.117 others(96): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141340 | ATGGGGGG others(70): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009 | 1 | 402 | 0.0025 | -77 | c.*23 others(88): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2274 | chr17 | TogoVar | |||||||
SCGB2A2_chr11_62265158_62278160 | 62277939 | CCTCTCGC others(70): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00738.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
27 | 390 | 0.0692 | -77 | c.*49 others(88): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 4780 | chr11 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55822496 | GATTCACT others(70): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0009 | a0009c0013 | a0009c0013t0039 | a0009c0013t0039g0008 | 1 | 390 | 0.0026 | -77 | c.721 others(94): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SERPINB7_chr18_63770418_63810370 | 63770819 | TATGTTGT others(70): Show |
T | upstream_gene_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0071 | 1 | 432 | 0.0023 | -77 | c.-49 others(88): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 4598 | chr18 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101143519 | AAGAAAGA others(70): Show |
A | downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 436 | 0.0023 | -77 | c.*60 others(88): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4273 | chr7 | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124350908 | ATATATTG others(70): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 318 | 0.0031 | -77 | c.137 others(94): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401320 | GGCCCGCT others(70): Show |
G | downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 242 | 0.0041 | -77 | c.*44 others(88): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4395 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401407 | ACACCCGG others(70): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 242 | 0.0041 | -77 | c.*44 others(88): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4308 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401733 | ACCCCCGA others(70): Show |
A | downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 242 | 0.0041 | -77 | c.*40 others(88): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3982 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402042 | ACCCCCGG others(70): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 242 | 0.0041 | -77 | c.*37 others(88): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3673 | chr11 | TogoVar | |||||||
SIRPB2_chr20_1469578_1496420 | 1493326 | AAGAGGGG others(70): Show |
A | upstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 372 | 0.0027 | -77 | c.-20 others(88): Show |
SIRPB2 | ENSG00000196209.13 | transcript | ENST00000359801.8 | protein_coding | 1907 | chr20 | TogoVar | |||||||
SLC22A12_chr11_64586220_64607344 | 64595214 | ATGGATGG others(70): Show |
A | intron_variant | MODIFIER | HG03540.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 a0001c0001t0001g0212 |
2 | 390 | 0.0051 | -77 | c.830 others(94): Show |
SLC22A12 | ENSG00000197891.12 | transcript | ENST00000377574.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC27A6_chr5_128960488_129038635 | 129034436 | TCTTATTA others(70): Show |
T | downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 358 | 0.0028 | -77 | c.*11 others(88): Show |
SLC27A6 | ENSG00000113396.13 | transcript | ENST00000262462.9 | protein_coding | 802 | chr5 | TogoVar | |||||||
SLC37A3_chr7_140328752_140403530 | 140362562 | CCCGCCCG others(70): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228 a0002c0002t0002g0234 |
2 | 346 | 0.0058 | -77 | c.375 others(94): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 5/14 | chr7 | TogoVar | |||||||
SLC39A14_chr8_22362278_22427736 | 22396425 | AGAGAGAG others(70): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0047 | 1 | 324 | 0.0031 | -77 | c.-15 others(94): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79919511 | CAGGAACC others(70): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0207 | 1 | 352 | 0.0028 | -77 | c.392 others(92): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79919837 | GGGTCAGA others(70): Show |
G | intron_variant | MODIFIER | NA19004.hp2 NA19009.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0018g0100 |
3 | 352 | 0.0085 | -77 | c.392 others(92): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79920123 | CGGAACCG others(70): Show |
C | intron_variant | MODIFIER | HG02683.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0042 | a0001c0001t0003g0299 a0001c0001t0042g0266 |
2 | 352 | 0.0057 | -77 | c.392 others(92): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79920684 | TGAGGAGA others(70): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02486.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 others(3): Show |
6 | 352 | 0.0171 | -77 | c.392 others(94): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79921125 | TGAGAGGT others(70): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0148 | 1 | 352 | 0.0028 | -77 | c.392 others(94): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79921410 | TGAGGAGA others(70): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0188 | 1 | 352 | 0.0028 | -77 | c.392 others(94): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79921431 | TGAGAGGT others(70): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0281 | 1 | 352 | 0.0028 | -77 | c.392 others(94): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC7A1_chr13_29504414_29600688 | 29558648 | AGTGAGCG others(70): Show |
A | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0085 | 1 | 330 | 0.0030 | -77 | c.-11 others(96): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SLC7A1_chr13_29504414_29600688 | 29558907 | AGTGAGGG others(70): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG02735.hp2 HG04199.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0007a0001c0003t0005 | a0001c0001t0002g0277 a0001c0002t0007g0015 a0001c0003t0005g0125 |
3 | 330 | 0.0091 | -77 | c.-11 others(96): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44978552 | CGTGTGGG others(70): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0135 | 1 | 334 | 0.0030 | -77 | c.*17 others(88): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1580 | chr21 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47850514 | AATATATA others(70): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0059 |
2 | 310 | 0.0065 | -77 | c.784 others(92): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2153751 | CTAGAGTG others(70): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp2 others(94): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0012a0002c0034others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(23): Show | a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 others(94): Show |
97 | 278 | 0.3489 | -77 | c.335 others(98): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar |