Datasets:
Melissa Higa
Melissa-Higa/
Cohesin-Mutations-AML
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[a20588]: / Cohesin mutations in acute myeloid leukemia_data.xlsx

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# Pat Group Clone Function p.HGVS Domain normal karyotype complex karyotype ELN2022 ASXL1 ATRX BCOR BCORL1 BRAF CALR CBL CBLB CDKN2A CEBPA CEBPADM CEBPA.bZIP CEBPA.bZIP.inframe CEBPA.TAD CSF3R CUX1 DNMT3A ETV6 EZH2 FBXW7 FLT3I FLT3T FLT3R GATA1 GATA2 GNAS HRAS IDH1 IDH2 IKZF1 JAK2 KDM6A KIT KRAS MPL MYD88 NOTCH1 NPM1 NRAS PDGFRA PTEN PHF6 PTPN11 RAD21 RUNX1 SETBP1 SF3B1 SMC1A SMC3 SRSF2 STAG2 TET2 TP53 U2AF1 WT1 ZRSR2 inv16_t16.16 t8.21 t.6.9..p23.q34. t.8.16. inv.3..q21.q26.2. minus.5 del.5q. t.9.22..q34.q11. minus.7 minus.17 t.v.11..v.q23. abn.17p. t.9.11..p21.23.q23.
1 1 RAD21 Dominant Missense p.Arg54Trp SMC3 binding 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 1 0 0 0 0 0 0 0 0 0 0 0
2 2 RAD21 Dominant Termination p.Gln474Argfs*3 nan 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
3 3 RAD21 Subclonal Termination p.Ile512Ter nan 1.0 nan fav 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 nan nan nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
4 4 RAD21 Subclonal Termination p.Thr574Asnfs*4 SMC1A binding 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 1.0 0.0 0.78 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
5 5 RAD21 Dominant Missense p.Glu534Asp nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
6 6 RAD21 Dominant Termination p.Ile440Asnfs*3 nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
7 7 RAD21 Subclonal Termination p.Glu583Alafs*23 SMC1A binding 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1 0 0 0 0 0 0 0 0 0 0 0
8 8 RAD21 Subclonal Termination p.Arg586Ter SMC1A binding 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 1.29 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
9 9 RAD21 Dominant Missense p.Gln613Arg SMC1A binding 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
10 10 RAD21 Dominant Missense p.Thr199Ile nan 1.0 nan fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
11 11 RAD21 Dominant Missense p.Arg54Trp SMC3 binding 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 1.0 nan nan nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1 0 0 0 0 0 0 0 0 0 0 0
12 12 RAD21 Subclonal Termination p.Ser175Cysfs*3 nan 1.0 nan fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
13 13 RAD21 Dominant Termination p.Arg590Lysfs*20 SMC1A binding 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 nan 0.62 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
14 14 RAD21 Dominant Termination p.Ile347Cysfs*36 nan 0.0 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
15 15 RAD21 Dominant Missense p.Met290Val nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.71 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
16 16 RAD21 Subclonal Termination p.Asp548Argfs*26 nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 nan 0.35 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
17 17 RAD21 Dominant Missense p.Gly62Glu SMC3 binding nan 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.89 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
18 18 RAD21 Dominant Termination p.Gln131Ter nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
19 19 RAD21 Dominant Termination p.Ser138Ter nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
20 20 RAD21 Subclonal Termination p.Lys406Argfs*4 nan 1.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 1.0 1.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 1.0 0.0 0.34 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
21 21 RAD21 Subclonal Missense p.Asp230His nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
22 22 RAD21 Dominant Termination p.Gln258Ter nan 0.0 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 1.0 nan 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 1 0 0 0 0
23 23 RAD21 Subclonal Missense p.Ile44Asn SMC3 binding 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
24 24 RAD21 Dominant Termination p.Arg478Ter nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
25 25 RAD21 Subclonal Termination p.Ser459Alafs*5 nan 1.0 0.0 adv 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 1.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 1 0 0 0 0
26 26 RAD21 Dominant Termination p.Gln474Ter nan 1.0 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 1.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
27 27 RAD21 Dominant Termination p.Lys573Leufs*38 SMC1A binding 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 nan 0.05 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
28 28 RAD21 Dominant Termination p.Glu518Valfs*18 nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 nan 0.02 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 1.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
29 29 RAD21 Dominant Termination p.Arg586Ter SMC1A binding 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 1.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
30 30 RAD21 Subclonal Termination p.Asp166Metfs*5 nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 1.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
31 31 RAD21 Dominant Missense p.Ser235Asn nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
32 32 RAD21 Subclonal Termination p.Arg338Ter nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
33 33 RAD21 Dominant Termination p.Ser545Ter nan nan 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
34 34 RAD21 Dominant Termination p.Gln430Ter nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
35 35 RAD21 Dominant Termination p.Arg586Ter SMC1A binding 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.02 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 1.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
36 36 RAD21 Dominant Termination p.Glu614Aspfs*7 SMC1A binding 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 nan nan nan 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 2.56 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
37 37 RAD21 Dominant Termination p.Arg586Ter SMC1A binding 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
38 38 RAD21 Dominant Missense p.Arg54Gln SMC3 binding 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
39 39 RAD21 Subclonal Termination p.Gln293Lysfs*19 nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.81 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
40 40 RAD21 Dominant Termination p.Leu110Tyrfs*15 nan 0.0 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1 0.0 0.0 1.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 1 0 0 0 0 0 0 0 0
41 41 RAD21 Dominant Missense p.Arg101Trp SMC3 binding 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.01 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1 0 0 0 0 0 0 0 0 0 0 0 0
42 42 RAD21 Dominant Termination p.Asp548Argfs*21 nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 1.0 1.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
43 43 RAD21 Dominant Termination p.Arg586Ter SMC1A binding 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
44 44 RAD21 Dominant Termination p.Tyr3Ter SMC3 binding 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
45 45 RAD21 Dominant Missense Splicing SMC1A binding 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1 0 0 0 0 0 0 0 0 0 0 0
46 46 RAD21 Subclonal Termination p.Tyr211Ter nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.01 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
47 47 RAD21 Dominant Missense p.Ala20Val SMC3 binding 0.0 1.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 1 0 0 0
48 48 RAD21 Subclonal Missense p.Ile44Ser SMC3 binding 0.0 0.0 adv 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1 1.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 1 0 0 0 0
49 49 RAD21 Dominant Termination p.Gln378Ter STAG 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 1.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
50 50 RAD21 Dominant Missense p.Val253Met nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 nan 1.0 1.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 1.0 0.0 0.0 1.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
51 51 RAD21 Dominant Termination p.Gln607Ter SMC1A binding 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 nan 1.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1 0.0 0.0 0.0 0 0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
52 52 SMC1A Subclonal Missense p.Phe823Leu nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.02 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
53 53 SMC1A Subclonal Missense p.Ile98Ser nan 1.0 0.0 adv 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 1.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
54 54 SMC1A Subclonal Missense p.Arg586Trp nan 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0 0 0 0 0 0 0 0 0 0 0 0 0
55 55 SMC1A Dominant Missense p.Leu49Gln nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 1.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
56 56 SMC1A Dominant Missense p.Leu828Pro nan 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
57 57 SMC1A Subclonal Missense p.Arg586Gln nan 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1 0 0 0 0 0 0 0 0 0 0 0
58 58 SMC1A Dominant Missense p.Lys903Arg nan 0.0 1.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 1 0 0 1 0 0 0 0
59 59 SMC1A Dominant Missense p.Leu64Pro nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
60 60 SMC1A Dominant Missense p.Arg96His nan 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
61 61 SMC1A Subclonal Missense Splicing nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
62 62 SMC1A Dominant Missense p.Arg96His nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
63 63 SMC1A Dominant Missense p.His66Arg nan 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1 0 0 0 0 0 0 0 0 0 0 0
64 64 SMC1A Dominant Missense p.Gly50Ser nan 1.0 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
65 65 SMC1A Subclonal Missense p.Arg586Trp nan 1.0 0.0 adv 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
66 66 SMC1A Dominant Missense p.Asn40Asp nan 0.0 1.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1 0 0 0 0 0 0 0 0 0 0 0
67 67 SMC1A Dominant Missense p.Arg586Trp nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 1.02 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
68 68 SMC1A Dominant Missense p.Arg586Trp nan 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1 0 0 0 0 0 0 0 0 0 0 0
69 69 SMC1A Dominant Missense p.Arg586Trp nan 0.0 1.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1 1 0 0 0 0 0 0 0 0 0 0 0
70 70 SMC1A Dominant Missense p.Arg96His nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
71 71 SMC1A Subclonal Missense p.Asn40Asp nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
72 72 SMC1A Dominant Missense p.Arg96His nan nan 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
73 73 SMC1A Subclonal Missense p.Arg586Trp nan 0.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.05 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
74 74 SMC1A Dominant Missense p.Lys854Arg nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan 0 nan nan nan 1 0 nan nan nan nan nan nan nan 0 0 0 0 0 0 0 0 0 0 0 0 0
75 75 SMC1A Subclonal Missense p.Arg586Trp nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 nan 1.0 1.0 nan 0.0 0.0 1.0 0.0 0.0 0.0 1.0 nan 0.36 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 1 0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
76 76 SMC1A Subclonal Missense p.Arg586Trp nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan nan 0 nan nan nan 1 0 nan nan nan nan nan nan nan 0 0 0 0 0 0 0 0 0 0 0 0 0
77 77 SMC3 Dominant Missense p.Arg381Gln nan 1.0 nan fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
78 78 SMC3 Dominant Missense p.Met1162Val nan 0.0 1.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 1 0 0 0
79 79 SMC3 Subclonal Missense p.Ile1014Asn nan 1.0 nan int 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 nan nan nan nan 0.0 0.0 1.0 0.0 0.0 0.0 1.0 nan 0.387 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
80 80 SMC3 Subclonal Missense p.Gly662Asp nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 nan 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
81 81 SMC3 Subclonal Missense p.Arg381Gln nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
82 82 SMC3 Subclonal Missense p.Arg381Gln nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
83 83 SMC3 Dominant Missense p.Asn1193Asp nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
84 84 SMC3 Subclonal Missense p.Arg381Gln nan 0.0 1.0 adv 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1.0 0.0 0.0 0 1 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
85 85 SMC3 Dominant Missense p.Arg661Pro nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.21 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 1.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
86 86 SMC3 Dominant Missense p.Arg675_Leu676insGlyArg nan 0.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0 1 0 0 0 0 0 0 0 0 0 0 0
87 87 SMC3 Dominant Missense p.Arg661Pro nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
88 88 SMC3 Dominant Missense p.Gly662Ala nan 1.0 0.0 fav 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
89 89 SMC3 Dominant Missense p.Gln261Ter nan 1.0 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.56 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
90 90 SMC3 Subclonal Missense p.Arg381Gln nan 1.0 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 1.0 0.0 1.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
91 91 SMC3 Subclonal Missense p.Ser674_Arg675insLeuAla nan 0.0 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 1.0 0.0 0.0 0 1 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
92 92 SMC3 Dominant Missense p.Phe385Leu nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 nan 0.85 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
93 93 SMC3 Dominant Missense p.Arg381Gln nan 1.0 0.0 adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 1.0 0.0 0.85 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
94 94 SMC3 Dominant Missense p.Arg381Gln nan 1.0 0.0 int 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.29 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
95 95 SMC3 Subclonal Missense p.Arg381Gln nan 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
96 96 SMC3 Subclonal Missense p.Gly662Val nan 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
97 97 STAG2 Dominant Termination p.Arg69Ter nan 1.0 nan adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
98 98 STAG2 Dominant Termination p.Gln932Ter nan nan nan adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
99 99 STAG2 Dominant Termination p.Arg259Ter STAG 1.0 nan adv 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0 0.0 0.0 0.0 0 0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0
100 100 STAG2 Dominant Termination p.Lys1074Ter nan 1.0 nan fav 0.0 0.0 0.0 0.0 0.0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 nan 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.0 1.0 0.0 1.0 0.0 0.0 0 0.0 0.0 0.0 0 0 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0 0 0 0 0 0 0 0 0 0 0 0 0