Individual #00000005

Reference de Araujo TK et al (2016) de Araujo TK et al (2016)
Remarks Q37.3 Left (IDC-10 Version 2016)
Panel size 2
Diseases NSCLP
Owner name Admin


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000006 DNA TaqMan - 171 Admin



Variants

171 entries on 2 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 1.000 Patients_Q37.3_left 4 4 Admin - - - - - - -
1 Unknown g.23749386C>T dbSNP chr1_000002 0.500 Patients_Q37.3_left 2 4 Admin - - - - - - -
1 Unknown g.23750961C>T dbSNP chr1_000003 0.250 Patients_Q37.3_left 1 4 Admin - - - - - - -
1 Unknown g.23757004C>T dbSNP chr1_000004 0.500 Patients_Q37.3_left 2 4 Admin - - - - - - -
1 Unknown g.23757159T>C dbSNP chr1_000005 0.250 Patients_Q37.3_left 1 4 Admin - - - - - - -
1 Unknown g.75133215C>T dbSNP LHX8_000008 0.500 Patients_Q37.3_left 2 4 Admin LHX8 ./. - NM_001001933.1:c.18+2483C>T - r.(=) p.(=) -
1 Unknown g.75143364A>C dbSNP LHX8_000006 0.500 Patients_Q37.3_left 2 4 Admin LHX8 ./. - NM_001001933.1:c.610+26A>C - r.(=) p.(=) -
1 Unknown g.75144766C>T dbSNP LHX8_000007 0.500 Patients_Q37.3_left 2 4 Admin LHX8 ./. - NM_001001933.1:c.714+818C>T - r.(=) p.(=) -
1 Unknown g.75149341A>G dbSNP LHX8_000004 0.500 Patients_Q37.3_left 2 4 Admin LHX8 ./. - NM_001001933.1:c.810+659A>G - r.(=) p.(=) -
1 Unknown g.75151588C>T dbSNP LHX8_000001 0.500 Patients_Q37.3_left 2 4 Admin LHX8 ./. - NM_001001933.1:c.810+2906C>T - r.(=) p.(=) -
1 Unknown g.209789449G>A dbSNP IRF6_000008 0.250 Patients_Q37.3_left 1 4 Admin IRF6 ./. - NM_006147.3:c.1179+218C>T - r.(=) p.(=) -
1 Unknown g.209791530G>T dbSNP IRF6_000006 0.750 Patients_Q37.3_left 3 4 Admin IRF6 ./. - NM_006147.3:c.668-643C>A - r.(=) p.(=) -
1 Unknown g.228004696G>A dbSNP chr1_000006 1.000 Patients_Q37.3_left 4 4 Admin - - - - - - -
1 Unknown g.228005052T>A dbSNP chr1_000007 1.000 Patients_Q37.3_left 4 4 Admin - - - - - - -
1 Unknown g.228022114T>A dbSNP WNT3A_000006 1.000 Patients_Q37.3_left 4 4 Admin WNT3A ./. - NM_033131.3:c.72-553T>A - r.(=) p.(=) -
1 Unknown g.228029296C>A dbSNP WNT3A_000001 0.750 Patients_Q37.3_left 3 4 Admin WNT3A ./. - NM_033131.3:c.313+6388C>A - r.(=) p.(=) -
1 Unknown g.228032181C>A dbSNP WNT3A_000002 0.250 Patients_Q37.3_left 1 4 Admin WNT3A ./. - NM_033131.3:c.313+9273C>A - r.(=) p.(=) -
1 Unknown g.228035335A>G dbSNP WNT3A_000003 1.000 Patients_Q37.3_left 4 4 Admin WNT3A ./. - NM_033131.3:c.313+12427A>G - r.(=) p.(=) -
1 Unknown g.228037123A>G dbSNP WNT3A_000004 1.000 Patients_Q37.3_left 4 4 Admin WNT3A ./. - NM_033131.3:c.314-13533A>G - r.(=) p.(=) -
1 Unknown g.228057123G>T dbSNP WNT3A_000007 1.000 Patients_Q37.3_left 4 4 Admin WNT3A ./. - NM_033131.3:c.580-1863G>T - r.(=) p.(=) -
2 Unknown g.202205344C>T dbSNP chr2_000002 0.500 Patients_Q37.3_left 2 4 Admin - - - - - - -
2 Unknown g.202214584T>C dbSNP SUMO1_000001 1.000 Patients_Q37.3_left 4 4 Admin SUMO1 ./. - NM_003352.4:c.88-150A>G - r.(=) p.(=) -
2 Unknown g.202224545G>A dbSNP SUMO1_000002 0.500 Patients_Q37.3_left 2 4 Admin SUMO1 ./. - NM_003352.4:c.13-4439C>T - r.(=) p.(=) -
2 Unknown g.202233836C>T dbSNP SUMO1_000004 0.500 Patients_Q37.3_left 2 4 Admin SUMO1 ./. - NM_003352.4:c.12+4604G>A - r.(=) p.(=) -
2 Unknown g.202238678G>A dbSNP chr2_000001 0.500 Patients_Q37.3_left 2 4 Admin - - - - - - -
3 Unknown g.55466380T>A dbSNP WNT5A_000001 0.750 Patients_Q37.3_left 3 4 Admin WNT5A ./. - NM_003392.4:c.*3712A>T - r.(=) p.(=) -
3 Unknown g.55467147T>C dbSNP WNT5A_000002 0.750 Patients_Q37.3_left 3 4 Admin WNT5A ./. - NM_003392.4:c.*2945A>G - r.(=) p.(=) -
3 Unknown g.55470702A>G dbSNP WNT5A_000003 0.250 Patients_Q37.3_left 1 4 Admin WNT5A ./. - NM_003392.4:c.685-152T>C - r.(=) p.(=) -
3 Unknown g.55471362G>C dbSNP WNT5A_000004 0.250 Patients_Q37.3_left 1 4 Admin WNT5A ./. - NM_003392.4:c.685-812C>G - r.(=) p.(=) -
3 Unknown g.55477647G>A dbSNP WNT5A_000005 0.250 Patients_Q37.3_left 1 4 Admin WNT5A ./. - NM_003392.4:c.391+1667C>T - r.(=) p.(=) -
3 Unknown g.55486750T>G dbSNP WNT5A_000007 0.500 Patients_Q37.3_left 2 4 Admin WNT5A ./. - NM_003392.4:c.6+230A>C - r.(=) p.(=) -
4 Unknown g.4862018C>A dbSNP MSX1_000001 0.500 Patients_Q37.3_left 2 4 Admin MSX1 ./. - NM_002448.3:c.470-683C>A - r.(=) p.(=) -
4 Unknown g.4863419A>G dbSNP MSX1_000002 0.500 Patients_Q37.3_left 1 2 Admin MSX1 ./. - NM_002448.3:c.*276A>G - r.(=) p.(=) -
4 Unknown g.123394883A>G dbSNP chr4_000001 0.750 Patients_Q37.3_left 3 4 Admin - - - - - - -
4 Unknown g.123399769A>G dbSNP SPRY1_000002 0.750 Patients_Q37.3_left 3 4 Admin SPRY1 ./. - NM_001258038.1:c.-55-1768A>G - r.(=) p.(=) -
4 Unknown g.123402583T>C dbSNP SPRY1_000001 0.750 Patients_Q37.3_left 3 4 Admin SPRY1 ./. - NM_001258038.1:c.*32T>C - r.(=) p.(=) -
5 Unknown g.138090758G>A dbSNP WNT8A_000003 0.500 Patients_Q37.3_left 2 4 Admin WNT8A ./. - NM_058244.3:c.741G>A - r.(=) p.(=) -
5 Unknown g.174726034A>G dbSNP MSX2_000003 0.750 Patients_Q37.3_left 3 4 Admin MSX2 ./. - NM_002449.4:c.379+996A>G - r.(=) p.(=) -
5 Unknown g.174728779T>C dbSNP MSX2_000004 0.750 Patients_Q37.3_left 3 4 Admin MSX2 ./. - NM_002449.4:c.380-380T>C - r.(=) p.(=) -
5 Unknown g.174729165T>A dbSNP MSX2_000002 0.750 Patients_Q37.3_left 3 4 Admin MSX2 ./. - NM_002449.4:c.386T>A - r.(?) p.(Met129Lys) -
5 Unknown g.174730093A>G dbSNP MSX2_000001 0.750 Patients_Q37.3_left 3 4 Admin MSX2 ./. - NM_002449.4:c.*510A>G - r.(=) p.(=) -
6 Unknown g.10394973C>T dbSNP chr6_000002 0.500 Patients_Q37.3_left 2 4 Admin - - - - - - -
6 Unknown g.10395339A>G dbSNP chr6_000003 0.750 Patients_Q37.3_left 3 4 Admin - - - - - - -
6 Unknown g.10398749A>T dbSNP TFAP2A_000001 0.750 Patients_Q37.3_left 3 4 Admin TFAP2A ./. - NM_003220.2:c.1026-44T>A - r.(=) p.(=) -
6 Unknown g.10402950T>C dbSNP TFAP2A_000002 0.750 Patients_Q37.3_left 3 4 Admin TFAP2A ./. - NM_003220.2:c.765-340A>G - r.(=) p.(=) -
6 Unknown g.10411955T>C dbSNP TFAP2A_000004 0.500 Patients_Q37.3_left 2 4 Admin TFAP2A ./. - NM_003220.2:c.46-1620A>G - r.(=) p.(=) -
6 Unknown g.10414773G>C dbSNP TFAP2A_000005 1.000 Patients_Q37.3_left 4 4 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 1.000 Patients_Q37.3_left 4 4 Admin PRSS35 ./. - NM_153362.2:c.-21+1150G>A - r.(=) p.(=) -
6 Unknown g.83515280G>A dbSNP PRSS35_000001 1.000 Patients_Q37.3_left 4 4 Admin PRSS35 ./. - NM_153362.2:c.-21+2586G>A - r.(=) p.(=) -
6 Unknown g.83517927T>C dbSNP PRSS35_000002 1.000 Patients_Q37.3_left 4 4 Admin PRSS35 ./. - NM_153362.2:c.-21+5233T>C - r.(=) p.(=) -
6 Unknown g.83520556T>C dbSNP PRSS35_000004 0.750 Patients_Q37.3_left 3 4 Admin PRSS35 ./. - NM_153362.2:c.-20-2866T>C - r.(=) p.(=) -
6 Unknown g.83520934A>G dbSNP PRSS35_000005 1.000 Patients_Q37.3_left 4 4 Admin PRSS35 ./. - NM_153362.2:c.-20-2488A>G - r.(=) p.(=) -
6 Unknown g.83522978A>G dbSNP PRSS35_000006 0.250 Patients_Q37.3_left 1 4 Admin PRSS35 ./. - NM_153362.2:c.-20-444A>G - r.(=) p.(=) -
6 Unknown g.83524112G>A dbSNP PRSS35_000007 1.000 Patients_Q37.3_left 4 4 Admin PRSS35 ./. - NM_153362.2:c.671G>A - r.(?) p.(Arg224Gln) -
6 Unknown g.83526030G>T dbSNP chr6_000001 0.250 Patients_Q37.3_left 1 4 Admin - - - - - - -
7 Unknown g.27100259G>A dbSNP chr7_000001 0.750 Patients_Q37.3_left 3 4 Admin - - - - - - -
7 Unknown g.27102038C>A dbSNP HOXA2_000001 0.250 Patients_Q37.3_left 1 4 Admin HOXA2 ./. - NM_006735.3:c.391+72G>T - r.(=) p.(=) -
7 Unknown g.155807723T>C dbSNP SHH_000001 0.750 Patients_Q37.3_left 3 4 Admin SHH ./. - NM_000193.2:c.301-1166A>G - r.(=) p.(=) -
8 Unknown g.10724372A>C dbSNP SOX7_000007 0.750 Patients_Q37.3_left 3 4 Admin SOX7 ./. - NM_031439.3:c.*1366T>G - r.(=) p.(=) -
8 Unknown g.10725996A>G dbSNP SOX7_000005 0.500 Patients_Q37.3_left 2 4 Admin SOX7 ./. - NM_031439.3:c.909T>C - r.(=) p.(=) -
8 Unknown g.10726702C>T dbSNP SOX7_000001 0.750 Patients_Q37.3_left 3 4 Admin SOX7 ./. - NM_031439.3:c.239-36G>A - r.(=) p.(=) -
8 Unknown g.10727652T>C dbSNP SOX7_000002 0.250 Patients_Q37.3_left 1 4 Admin SOX7 ./. - NM_031439.3:c.239-986A>G - r.(=) p.(=) -
8 Unknown g.10729498G>C dbSNP SOX7_000003 0.500 Patients_Q37.3_left 2 4 Admin SOX7 ./. - NM_031439.3:c.238+698C>G - r.(=) p.(=) -
9 Unknown g.95447312G>A dbSNP PTCH1_000002 0.750 Patients_Q37.3_left 3 4 Admin PTCH1 ./. - NM_000264.3:c.3944C>T - r.(?) p.(Pro1315Leu) -
9 Unknown g.95476908G>C dbSNP PTCH1_000004 0.500 Patients_Q37.3_left 2 4 Admin PTCH1 ./. - NM_000264.3:c.1504-51C>G - r.(=) p.(=) -
9 Unknown g.97855301T>C dbSNP FOXE1_000002 1.000 Patients_Q37.3_left 4 4 Admin FOXE1 ./. - NM_004473.3:c.*265T>C - r.(=) p.(=) -
9 Unknown g.97856378G>A dbSNP FOXE1_000001 1.000 Patients_Q37.3_left 4 4 Admin FOXE1 ./. - NM_004473.3:c.*1342G>A - r.(=) p.(=) -
10 Unknown g.117131062T>C dbSNP VAX1_000001 0.750 Patients_Q37.3_left 3 4 Admin VAX1 ./. - NM_001112704.1:c.*2946A>G - r.(=) p.(=) -
10 Unknown g.117131182G>A dbSNP VAX1_000002 0.500 Patients_Q37.3_left 2 4 Admin VAX1 ./. - NM_001112704.1:c.*2826C>T - r.(=) p.(=) -
10 Unknown g.117133720A>G dbSNP VAX1_000003 0.750 Patients_Q37.3_left 3 4 Admin VAX1 ./. - NM_001112704.1:c.*288T>C - r.(=) p.(=) -
11 Unknown g.67632499C>T dbSNP TBX10_000005 0.500 Patients_Q37.3_left 2 4 Admin TBX10 ./. - NM_005995.4:c.774-87G>A - r.(=) p.(=) -
11 Unknown g.67633375T>C dbSNP TBX10_000006 0.250 Patients_Q37.3_left 1 4 Admin TBX10 ./. - NM_005995.4:c.550-272A>G - r.(=) p.(=) -
11 Unknown g.67634642C>T dbSNP TBX10_000003 0.500 Patients_Q37.3_left 2 4 Admin TBX10 ./. - NM_005995.4:c.377+174G>A - r.(=) p.(=) -
11 Unknown g.67634891T>G dbSNP TBX10_000004 0.250 Patients_Q37.3_left 1 4 Admin TBX10 ./. - NM_005995.4:c.302A>C - r.(?) p.(Lys101Thr) -
11 Unknown g.67639358T>C dbSNP TBX10_000002 0.250 Patients_Q37.3_left 1 4 Admin TBX10 ./. - NM_005995.4:c.7+108A>G - r.(=) p.(=) -
11 Unknown g.76185528G>A dbSNP chr11_000001 1.000 Patients_Q37.3_left 4 4 Admin - - - - - - -
11 Unknown g.76185603C>T dbSNP chr11_000002 0.750 Patients_Q37.3_left 3 4 Admin - - - - - - -
11 Unknown g.76186330T>C dbSNP WNT11_000001 0.250 Patients_Q37.3_left 1 4 Admin WNT11 ./. - NM_004626.2:c.*735A>G - r.(=) p.(=) -
11 Unknown g.76188363G>A dbSNP WNT11_000002 1.000 Patients_Q37.3_left 4 4 Admin WNT11 ./. - NM_004626.2:c.891-1124C>T - r.(=) p.(=) -
11 Unknown g.76197039C>T dbSNP WNT11_000006 0.250 Patients_Q37.3_left 1 4 Admin WNT11 ./. - NM_004626.2:c.84-321G>A - r.(=) p.(=) -
11 Unknown g.76203043A>G dbSNP WNT11_000008 0.500 Patients_Q37.3_left 2 4 Admin WNT11 ./. - NM_004626.2:c.83+3282T>C - r.(=) p.(=) -
11 Unknown g.76205433A>G dbSNP WNT11_000009 1.000 Patients_Q37.3_left 4 4 Admin WNT11 ./. - NM_004626.2:c.83+892T>C - r.(=) p.(=) -
13 Unknown g.80336651C>A dbSNP SPRY2_000001 0.250 Patients_Q37.3_left 1 4 Admin SPRY2 ./. - NM_005842.2:c.*107G>T - r.(=) p.(=) -
13 Unknown g.80337966T>C dbSNP SPRY2_000003 0.500 Patients_Q37.3_left 2 4 Admin SPRY2 ./. - NM_005842.2:c.-51-210A>G - r.(=) p.(=) -
14 Unknown g.36665286T>A dbSNP PAX9_000012 0.500 Patients_Q37.3_left 2 4 Admin PAX9 ./. - NM_006194.3:c.632-1176T>A - r.(=) p.(=) -
14 Unknown g.36668075T>C dbSNP PAX9_000010 0.750 Patients_Q37.3_left 3 4 Admin PAX9 ./. - NM_006194.3:c.771+1474T>C - r.(=) p.(=) -
14 Unknown g.36668318C>T dbSNP PAX9_000011 0.250 Patients_Q37.3_left 1 4 Admin PAX9 ./. - NM_006194.3:c.771+1717C>T - r.(=) p.(=) -
14 Unknown g.36669423T>C dbSNP PAX9_000001 0.500 Patients_Q37.3_left 2 4 Admin PAX9 ./. - NM_006194.3:c.771+2822T>C - r.(=) p.(=) -
14 Unknown g.36669970G>T dbSNP PAX9_000002 0.250 Patients_Q37.3_left 1 4 Admin PAX9 ./. - NM_006194.3:c.771+3369G>T - r.(=) p.(=) -
14 Unknown g.36671576A>G dbSNP PAX9_000003 0.750 Patients_Q37.3_left 3 4 Admin PAX9 ./. - NM_006194.3:c.772-4622A>G - r.(=) p.(=) -
14 Unknown g.36673764C>A dbSNP PAX9_000005 0.250 Patients_Q37.3_left 1 4 Admin PAX9 ./. - NM_006194.3:c.772-2434C>A - r.(=) p.(=) -
14 Unknown g.36674032T>A dbSNP PAX9_000006 0.250 Patients_Q37.3_left 1 4 Admin PAX9 ./. - NM_006194.3:c.772-2166T>A - r.(=) p.(=) -
14 Unknown g.36675311C>T dbSNP PAX9_000007 0.250 Patients_Q37.3_left 1 4 Admin PAX9 ./. - NM_006194.3:c.772-887C>T - r.(=) p.(=) -
14 Unknown g.53951693G>A dbSNP BMP4_000002 1.000 Patients_Q37.3_left 4 4 Admin BMP4 ./. - NM_001202.3:c.370+160C>T - r.(=) p.(=) -
14 Unknown g.75957240G>A dbSNP chr14_000001 0.250 Patients_Q37.3_left 1 4 Admin - - - - - - -
14 Unknown g.75961437T>A dbSNP TGFB3_000011 0.500 Patients_Q37.3_left 2 4 Admin TGFB3 ./. - NM_003239.3:c.927-361A>T - r.(=) p.(=) -
14 Unknown g.75962693C>G dbSNP TGFB3_000012 0.500 Patients_Q37.3_left 2 4 Admin TGFB3 ./. - NM_003239.3:c.926+623G>C - r.(=) p.(=) -
14 Unknown g.75964650T>C dbSNP TGFB3_000009 0.500 Patients_Q37.3_left 2 4 Admin TGFB3 ./. - NM_003239.3:c.754+938A>G - r.(=) p.(=) -
14 Unknown g.75965793T>C dbSNP TGFB3_000010 0.250 Patients_Q37.3_left 1 4 Admin TGFB3 ./. - NM_003239.3:c.647-98A>G - r.(=) p.(=) -
14 Unknown g.75970785T>C dbSNP TGFB3_000002 0.500 Patients_Q37.3_left 2 4 Admin TGFB3 ./. - NM_003239.3:c.646+341A>G - r.(=) p.(=) -
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