Individual #00000007

Reference de Araujo TK et al (2016) de Araujo TK et al (2016)
Remarks Q37.4 (IDC-10 Version 2016)
Panel size 53
Diseases NSCLP
Owner name Admin


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000008 DNA TaqMan - 251 Admin



Variants

251 entries on 3 pages. Showing entries 1 - 100.
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Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Owner     

Gene     

Effect     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     
1 Unknown g.23745865C>T dbSNP chr1_000001 0.887 Patients_Q37.4 94 106 Admin - - - - - - -
1 Unknown g.23749386C>T dbSNP chr1_000002 0.212 Patients_Q37.4 22 104 Admin - - - - - - -
1 Unknown g.23750961C>T dbSNP chr1_000003 0.179 Patients_Q37.4 19 106 Admin - - - - - - -
1 Unknown g.23757004C>T dbSNP chr1_000004 0.264 Patients_Q37.4 28 106 Admin - - - - - - -
1 Unknown g.23757159T>C dbSNP chr1_000005 0.186 Patients_Q37.4 19 102 Admin - - - - - - -
1 Unknown g.75128190G>A dbSNP chr1_000008 0.349 Patients_Q37.4 37 106 Admin - - - - - - -
1 Unknown g.75133215C>T dbSNP LHX8_000008 0.333 Patients_Q37.4 34 102 Admin LHX8 ./. - NM_001001933.1:c.18+2483C>T - r.(=) p.(=) -
1 Unknown g.75135460C>T dbSNP LHX8_000005 0.208 Patients_Q37.4 22 106 Admin LHX8 ./. - NM_001001933.1:c.19-1143C>T - r.(=) p.(=) -
1 Unknown g.75143364A>C dbSNP LHX8_000006 0.255 Patients_Q37.4 27 106 Admin LHX8 ./. - NM_001001933.1:c.610+26A>C - r.(=) p.(=) -
1 Unknown g.75144766C>T dbSNP LHX8_000007 0.255 Patients_Q37.4 27 106 Admin LHX8 ./. - NM_001001933.1:c.714+818C>T - r.(=) p.(=) -
1 Unknown g.75149341A>G dbSNP LHX8_000004 0.226 Patients_Q37.4 24 106 Admin LHX8 ./. - NM_001001933.1:c.810+659A>G - r.(=) p.(=) -
1 Unknown g.75151588C>T dbSNP LHX8_000001 0.255 Patients_Q37.4 27 106 Admin LHX8 ./. - NM_001001933.1:c.810+2906C>T - r.(=) p.(=) -
1 Unknown g.75152288C>A dbSNP LHX8_000002 0.147 Patients_Q37.4 15 102 Admin LHX8 ./. - NM_001001933.1:c.810+3606C>A - r.(=) p.(=) -
1 Unknown g.75156931C>T dbSNP LHX8_000003 0.382 Patients_Q37.4 39 102 Admin LHX8 ./. - NM_001001933.1:c.849C>T - r.(=) p.(=) -
1 Unknown g.209789449G>A dbSNP IRF6_000008 0.157 Patients_Q37.4 16 102 Admin IRF6 ./. - NM_006147.3:c.1179+218C>T - r.(=) p.(=) -
1 Unknown g.209791530G>T dbSNP IRF6_000006 0.783 Patients_Q37.4 83 106 Admin IRF6 ./. - NM_006147.3:c.668-643C>A - r.(=) p.(=) -
1 Unknown g.209795066C>T dbSNP IRF6_000007 0.226 Patients_Q37.4 24 106 Admin IRF6 ./. - NM_006147.3:c.508+224G>A - r.(=) p.(=) -
1 Unknown g.209796557G>C dbSNP IRF6_000004 0.346 Patients_Q37.4 36 104 Admin IRF6 ./. - NM_006147.3:c.175-5C>G - r.spl? p.? -
1 Unknown g.209798295G>C dbSNP IRF6_000005 0.387 Patients_Q37.4 41 106 Admin IRF6 ./. - NM_006147.3:c.175-1743C>G - r.(=) p.(=) -
1 Unknown g.209802870G>A dbSNP IRF6_000001 0.377 Patients_Q37.4 40 106 Admin IRF6 ./. - NM_006147.3:c.-75-827C>T - r.(=) p.(=) -
1 Unknown g.209803301T>C dbSNP IRF6_000002 0.368 Patients_Q37.4 39 106 Admin IRF6 ./. - NM_006147.3:c.-75-1258A>G - r.(=) p.(=) -
1 Unknown g.209804619G>C dbSNP IRF6_000003 0.123 Patients_Q37.4 13 106 Admin IRF6 ./. - NM_006147.3:c.-76+1328C>G - r.(=) p.(=) -
1 Unknown g.228004696G>A dbSNP chr1_000006 0.642 Patients_Q37.4 68 106 Admin - - - - - - -
1 Unknown g.228005052T>A dbSNP chr1_000007 0.500 Patients_Q37.4 50 100 Admin - - - - - - -
1 Unknown g.228020556A>G dbSNP WNT3A_000009 0.049 Patients_Q37.4 4 82 Admin WNT3A ./. - NM_033131.3:c.72-2111A>G - r.(=) p.(=) -
1 Unknown g.228022114T>A dbSNP WNT3A_000006 0.462 Patients_Q37.4 49 106 Admin WNT3A ./. - NM_033131.3:c.72-553T>A - r.(=) p.(=) -
1 Unknown g.228029296C>A dbSNP WNT3A_000001 0.236 Patients_Q37.4 25 106 Admin WNT3A ./. - NM_033131.3:c.313+6388C>A - r.(=) p.(=) -
1 Unknown g.228032181C>A dbSNP WNT3A_000002 0.198 Patients_Q37.4 21 106 Admin WNT3A ./. - NM_033131.3:c.313+9273C>A - r.(=) p.(=) -
1 Unknown g.228035335A>G dbSNP WNT3A_000003 0.780 Patients_Q37.4 78 100 Admin WNT3A ./. - NM_033131.3:c.313+12427A>G - r.(=) p.(=) -
1 Unknown g.228037123A>G dbSNP WNT3A_000004 0.670 Patients_Q37.4 71 106 Admin WNT3A ./. - NM_033131.3:c.314-13533A>G - r.(=) p.(=) -
1 Unknown g.228047307A>G dbSNP WNT3A_000005 0.356 Patients_Q37.4 37 104 Admin WNT3A ./. - NM_033131.3:c.314-3349A>G - r.(=) p.(=) -
1 Unknown g.228057123G>T dbSNP WNT3A_000007 0.774 Patients_Q37.4 82 106 Admin WNT3A ./. - NM_033131.3:c.580-1863G>T - r.(=) p.(=) -
1 Unknown g.228059650T>C dbSNP WNT3A_000008 0.380 Patients_Q37.4 38 100 Admin WNT3A ./. - NM_033131.3:c.*185T>C - r.(=) p.(=) -
2 Unknown g.202205344C>T dbSNP chr2_000002 0.415 Patients_Q37.4 44 106 Admin - - - - - - -
2 Unknown g.202214584T>C dbSNP SUMO1_000001 0.830 Patients_Q37.4 88 106 Admin SUMO1 ./. - NM_003352.4:c.88-150A>G - r.(=) p.(=) -
2 Unknown g.202224545G>A dbSNP SUMO1_000002 0.396 Patients_Q37.4 42 106 Admin SUMO1 ./. - NM_003352.4:c.13-4439C>T - r.(=) p.(=) -
2 Unknown g.202230180T>C dbSNP SUMO1_000003 0.067 Patients_Q37.4 7 104 Admin SUMO1 ./. - NM_003352.4:c.12+8260A>G - r.(=) p.(=) -
2 Unknown g.202233836C>T dbSNP SUMO1_000004 0.387 Patients_Q37.4 41 106 Admin SUMO1 ./. - NM_003352.4:c.12+4604G>A - r.(=) p.(=) -
2 Unknown g.202238678G>A dbSNP chr2_000001 0.349 Patients_Q37.4 37 106 Admin - - - - - - -
3 Unknown g.55465379C>T dbSNP chr3_000001 0.196 Patients_Q37.4 20 102 Admin - - - - - - -
3 Unknown g.55466380T>A dbSNP WNT5A_000001 0.491 Patients_Q37.4 52 106 Admin WNT5A ./. - NM_003392.4:c.*3712A>T - r.(=) p.(=) -
3 Unknown g.55467147T>C dbSNP WNT5A_000002 0.431 Patients_Q37.4 44 102 Admin WNT5A ./. - NM_003392.4:c.*2945A>G - r.(=) p.(=) -
3 Unknown g.55470702A>G dbSNP WNT5A_000003 0.538 Patients_Q37.4 57 106 Admin WNT5A ./. - NM_003392.4:c.685-152T>C - r.(=) p.(=) -
3 Unknown g.55471362G>C dbSNP WNT5A_000004 0.265 Patients_Q37.4 27 102 Admin WNT5A ./. - NM_003392.4:c.685-812C>G - r.(=) p.(=) -
3 Unknown g.55477647G>A dbSNP WNT5A_000005 0.394 Patients_Q37.4 41 104 Admin WNT5A ./. - NM_003392.4:c.391+1667C>T - r.(=) p.(=) -
3 Unknown g.55482935G>C dbSNP WNT5A_000006 0.132 Patients_Q37.4 14 106 Admin WNT5A ./. - NM_003392.4:c.7-2017C>G - r.(=) p.(=) -
3 Unknown g.55486750T>G dbSNP WNT5A_000007 0.712 Patients_Q37.4 74 104 Admin WNT5A ./. - NM_003392.4:c.6+230A>C - r.(=) p.(=) -
4 Unknown g.4862018C>A dbSNP MSX1_000001 0.413 Patients_Q37.4 43 104 Admin MSX1 ./. - NM_002448.3:c.470-683C>A - r.(=) p.(=) -
4 Unknown g.4863419A>G dbSNP MSX1_000002 0.600 Patients_Q37.4 60 100 Admin MSX1 ./. - NM_002448.3:c.*276A>G - r.(=) p.(=) -
4 Unknown g.123394883A>G dbSNP chr4_000001 0.810 Patients_Q37.4 81 100 Admin - - - - - - -
4 Unknown g.123399769A>G dbSNP SPRY1_000002 0.598 Patients_Q37.4 61 102 Admin SPRY1 ./. - NM_001258038.1:c.-55-1768A>G - r.(=) p.(=) -
4 Unknown g.123402583T>C dbSNP SPRY1_000001 0.566 Patients_Q37.4 60 106 Admin SPRY1 ./. - NM_001258038.1:c.*32T>C - r.(=) p.(=) -
5 Unknown g.138083805G>T dbSNP chr5_000001 0.176 Patients_Q37.4 18 102 Admin - - - - - - -
5 Unknown g.138084036A>G dbSNP WNT8A_000001 0.245 Patients_Q37.4 26 106 Admin WNT8A ./. - NM_058244.3:c.-54A>G - r.(=) p.(=) -
5 Unknown g.138084300C>T dbSNP WNT8A_000002 0.123 Patients_Q37.4 13 106 Admin WNT8A ./. - NM_058244.3:c.102+17C>T - r.(=) p.(=) -
5 Unknown g.138090758G>A dbSNP WNT8A_000003 0.406 Patients_Q37.4 43 106 Admin WNT8A ./. - NM_058244.3:c.741G>A - r.(=) p.(=) -
5 Unknown g.174726034A>G dbSNP MSX2_000003 0.670 Patients_Q37.4 71 106 Admin MSX2 ./. - NM_002449.4:c.379+996A>G - r.(=) p.(=) -
5 Unknown g.174728779T>C dbSNP MSX2_000004 0.858 Patients_Q37.4 91 106 Admin MSX2 ./. - NM_002449.4:c.380-380T>C - r.(=) p.(=) -
5 Unknown g.174729165T>A dbSNP MSX2_000002 0.802 Patients_Q37.4 85 106 Admin MSX2 ./. - NM_002449.4:c.386T>A - r.(?) p.(Met129Lys) -
5 Unknown g.174730093A>G dbSNP MSX2_000001 0.858 Patients_Q37.4 91 106 Admin MSX2 ./. - NM_002449.4:c.*510A>G - r.(=) p.(=) -
6 Unknown g.10394973C>T dbSNP chr6_000002 0.255 Patients_Q37.4 27 106 Admin - - - - - - -
6 Unknown g.10395339A>G dbSNP chr6_000003 0.660 Patients_Q37.4 70 106 Admin - - - - - - -
6 Unknown g.10398749A>T dbSNP TFAP2A_000001 0.453 Patients_Q37.4 48 106 Admin TFAP2A ./. - NM_003220.2:c.1026-44T>A - r.(=) p.(=) -
6 Unknown g.10402950T>C dbSNP TFAP2A_000002 0.387 Patients_Q37.4 41 106 Admin TFAP2A ./. - NM_003220.2:c.765-340A>G - r.(=) p.(=) -
6 Unknown g.10408524C>T dbSNP TFAP2A_000003 0.132 Patients_Q37.4 14 106 Admin TFAP2A ./. - NM_003220.2:c.480+1377G>A - r.(=) p.(=) -
6 Unknown g.10411955T>C dbSNP TFAP2A_000004 0.236 Patients_Q37.4 25 106 Admin TFAP2A ./. - NM_003220.2:c.46-1620A>G - r.(=) p.(=) -
6 Unknown g.10414773G>C dbSNP TFAP2A_000005 0.660 Patients_Q37.4 70 106 Admin TFAP2A, TFAP2A-AS1 ./. - NM_003220.2:c.45+168C>G, NR_033910.1:n.143G>C - r.(=), r.(?) p.(=), - -
6 Unknown g.83513844G>A dbSNP PRSS35_000008 0.500 Patients_Q37.4 53 106 Admin PRSS35 ./. - NM_153362.2:c.-21+1150G>A - r.(=) p.(=) -
6 Unknown g.83515044C>T dbSNP PRSS35_000009 0.217 Patients_Q37.4 23 106 Admin PRSS35 ./. - NM_153362.2:c.-21+2350C>T - r.(=) p.(=) -
6 Unknown g.83515280G>A dbSNP PRSS35_000001 0.745 Patients_Q37.4 79 106 Admin PRSS35 ./. - NM_153362.2:c.-21+2586G>A - r.(=) p.(=) -
6 Unknown g.83517927T>C dbSNP PRSS35_000002 0.490 Patients_Q37.4 50 102 Admin PRSS35 ./. - NM_153362.2:c.-21+5233T>C - r.(=) p.(=) -
6 Unknown g.83518056A>G dbSNP PRSS35_000003 0.245 Patients_Q37.4 26 106 Admin PRSS35 ./. - NM_153362.2:c.-21+5362A>G - r.(=) p.(=) -
6 Unknown g.83520556T>C dbSNP PRSS35_000004 0.264 Patients_Q37.4 28 106 Admin PRSS35 ./. - NM_153362.2:c.-20-2866T>C - r.(=) p.(=) -
6 Unknown g.83520934A>G dbSNP PRSS35_000005 0.783 Patients_Q37.4 83 106 Admin PRSS35 ./. - NM_153362.2:c.-20-2488A>G - r.(=) p.(=) -
6 Unknown g.83522978A>G dbSNP PRSS35_000006 0.726 Patients_Q37.4 77 106 Admin PRSS35 ./. - NM_153362.2:c.-20-444A>G - r.(=) p.(=) -
6 Unknown g.83524112G>A dbSNP PRSS35_000007 0.830 Patients_Q37.4 88 106 Admin PRSS35 ./. - NM_153362.2:c.671G>A - r.(?) p.(Arg224Gln) -
6 Unknown g.83526030G>T dbSNP chr6_000001 0.566 Patients_Q37.4 60 106 Admin - - - - - - -
7 Unknown g.27100259G>A dbSNP chr7_000001 0.849 Patients_Q37.4 90 106 Admin - - - - - - -
7 Unknown g.27102038C>A dbSNP HOXA2_000001 0.396 Patients_Q37.4 42 106 Admin HOXA2 ./. - NM_006735.3:c.391+72G>T - r.(=) p.(=) -
7 Unknown g.155807723T>C dbSNP SHH_000001 0.726 Patients_Q37.4 77 106 Admin SHH ./. - NM_000193.2:c.301-1166A>G - r.(=) p.(=) -
8 Unknown g.10724372A>C dbSNP SOX7_000007 0.745 Patients_Q37.4 76 102 Admin SOX7 ./. - NM_031439.3:c.*1366T>G - r.(=) p.(=) -
8 Unknown g.10724531G>C dbSNP SOX7_000004 0.019 Patients_Q37.4 2 106 Admin SOX7 ./. - NM_031439.3:c.*1207C>G - r.(=) p.(=) -
8 Unknown g.10724587C>G dbSNP SOX7_000006 0.179 Patients_Q37.4 19 106 Admin SOX7 ./. - NM_031439.3:c.*1151G>C - r.(=) p.(=) -
8 Unknown g.10725996A>G dbSNP SOX7_000005 0.575 Patients_Q37.4 61 106 Admin SOX7 ./. - NM_031439.3:c.909T>C - r.(=) p.(=) -
8 Unknown g.10726702C>T dbSNP SOX7_000001 0.736 Patients_Q37.4 78 106 Admin SOX7 ./. - NM_031439.3:c.239-36G>A - r.(=) p.(=) -
8 Unknown g.10727652T>C dbSNP SOX7_000002 0.274 Patients_Q37.4 29 106 Admin SOX7 ./. - NM_031439.3:c.239-986A>G - r.(=) p.(=) -
8 Unknown g.10729498G>C dbSNP SOX7_000003 0.548 Patients_Q37.4 57 104 Admin SOX7 ./. - NM_031439.3:c.238+698C>G - r.(=) p.(=) -
9 Unknown g.95441917C>T dbSNP chr9_000002 0.443 Patients_Q37.4 47 106 Admin - - - - - - -
9 Unknown g.95442510G>A dbSNP chr9_000001 0.085 Patients_Q37.4 9 106 Admin - - - - - - -
9 Unknown g.95445020C>G dbSNP PTCH1_000001 0.087 Patients_Q37.4 9 104 Admin PTCH1 ./. - NM_000264.3:c.*1373G>C - r.(=) p.(=) -
9 Unknown g.95447312G>A dbSNP PTCH1_000002 0.363 Patients_Q37.4 37 102 Admin PTCH1 ./. - NM_000264.3:c.3944C>T - r.(?) p.(Pro1315Leu) -
9 Unknown g.95476076G>A dbSNP PTCH1_000003 0.104 Patients_Q37.4 11 106 Admin PTCH1 ./. - NM_000264.3:c.1686C>T - r.(=) p.(=) -
9 Unknown g.95476908G>C dbSNP PTCH1_000004 0.212 Patients_Q37.4 22 104 Admin PTCH1 ./. - NM_000264.3:c.1504-51C>G - r.(=) p.(=) -
9 Unknown g.95480643A>G dbSNP PTCH1_000005 0.198 Patients_Q37.4 21 106 Admin PTCH1 ./. - NM_000264.3:c.747-55T>C - r.(=) p.(=) -
9 Unknown g.95493953T>G dbSNP PTCH1_000006 0.047 Patients_Q37.4 5 106 Admin PTCH1 ./. - NM_000264.3:c.395-8079A>C - r.(=) p.(=) -
9 Unknown g.95494027G>A dbSNP PTCH1_000007 0.058 Patients_Q37.4 6 104 Admin PTCH1 ./. - NM_000264.3:c.395-8153C>T - r.(=) p.(=) -
9 Unknown g.97855301T>C dbSNP FOXE1_000002 0.642 Patients_Q37.4 68 106 Admin FOXE1 ./. - NM_004473.3:c.*265T>C - r.(=) p.(=) -
9 Unknown g.97856378G>A dbSNP FOXE1_000001 1.000 Patients_Q37.4 102 102 Admin FOXE1 ./. - NM_004473.3:c.*1342G>A - r.(=) p.(=) -
10 Unknown g.117131062T>C dbSNP VAX1_000001 0.679 Patients_Q37.4 72 106 Admin VAX1 ./. - NM_001112704.1:c.*2946A>G - r.(=) p.(=) -
10 Unknown g.117131182G>A dbSNP VAX1_000002 0.566 Patients_Q37.4 60 106 Admin VAX1 ./. - NM_001112704.1:c.*2826C>T - r.(=) p.(=) -
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