Table 2 Summary of somatic SNV validated... | American Society of Hematology

Table 2

Summary of somatic SNV validated by capillary sequencing

Samples mutation in/chromosome	Position (NCBI36)	Allele change	Amino acid change	Gene	Functional prediction
Shared by all samples
2	98363078	G>T	R75L	CNGA3*	Benign
3	65431115	G>A	T281M	MAGI1*	Damaging
4	20461383	C>T	V32M isoform 5	KCNIP4	Damaging
4	88187220	G>A	R163H	AFF1*†	Damaging
5	158567354	A>G	L11S	RNF145*	Benign
6	16435083	G>T	Q480K	ATXN1*	Damaging
6	31658110	C>G	A22P	LTB	Damaging
8	113433928	C>T	D2050N isoform 1	CSMD3*†	Damaging
9	12688569	T>G	L276R	TYRP1	Benign
10	69552003	C>T	P268S	MYPN*	Damaging
11	40094082	T>C	R113G	LRRC4C*†	Damaging
12	46654167	G>A	T1361M isoform 2	COL2A1*	Damaging
16	30106313	T>A	L249Q	CORO1A	Damaging
17	35541834	C>T	S482L	MSL1	Benign
17	36978007	T>C	I443V	KRT9*	Benign
Diagnostic
1	143787132	G>A	P30S	PDE4DIP*	Damaging
First relapse
1	199295004	T>C	N1154S	CACNA1S*	Damaging
3	52232993	C>T	E127K	TLR9*	Benign
4	30530985	A>G	K1049R	PCDH7*†	Damaging
6	16436518	C>A	M1I	ATXN1*	Damaging
9	8491033	T>C	S617G	PTPRD*†	Benign
18	12300979	A>T	L68F	TUBB6	Damaging
18	26977706	C>T	G329D	DSC1*	Damaging
Diagnostic and second relapse
2	206188753	C>T	Q1096‡ Q1128‡ Q1135‡ alternate transcripts	PARD3B*	Truncating
12	27699359	T>G	L238R	PPFIBP1*†	Damaging
12	102220090	G>A	R337C	C12orf42*†	Damaging
19	6257886	G>T	L212I	ACER1	Damaging
19	7034018	G>T	G179W isoform b G186W isoform a	ZNF557*	Unknown
20	52604889	G>A	R26Q	DOK5*	Damaging
sPCL
1	173333422	C>T	A612V	TNN*	Damaging
5	32634825	T>A	I66N	SUB1	Damaging
6	28435424	G>T	E28‡	ZKSCAN3*†	Truncating
10	84 006	C>A	G109V	TUBB8*	Damaging
13	47835092	G>T	E287‡	RB1*†	Truncating
17	73731163	A>T	R82‡	BIRC5	Truncating
18	21059590	C>T	E764K	ZNF521*	Damaging

Samples mutation in/chromosome	Position (NCBI36)	Allele change	Amino acid change	Gene	Functional prediction
Shared by all samples
2	98363078	G>T	R75L	CNGA3*	Benign
3	65431115	G>A	T281M	MAGI1*	Damaging
4	20461383	C>T	V32M isoform 5	KCNIP4	Damaging
4	88187220	G>A	R163H	AFF1*†	Damaging
5	158567354	A>G	L11S	RNF145*	Benign
6	16435083	G>T	Q480K	ATXN1*	Damaging
6	31658110	C>G	A22P	LTB	Damaging
8	113433928	C>T	D2050N isoform 1	CSMD3*†	Damaging
9	12688569	T>G	L276R	TYRP1	Benign
10	69552003	C>T	P268S	MYPN*	Damaging
11	40094082	T>C	R113G	LRRC4C*†	Damaging
12	46654167	G>A	T1361M isoform 2	COL2A1*	Damaging
16	30106313	T>A	L249Q	CORO1A	Damaging
17	35541834	C>T	S482L	MSL1	Benign
17	36978007	T>C	I443V	KRT9*	Benign
Diagnostic
1	143787132	G>A	P30S	PDE4DIP*	Damaging
First relapse
1	199295004	T>C	N1154S	CACNA1S*	Damaging
3	52232993	C>T	E127K	TLR9*	Benign
4	30530985	A>G	K1049R	PCDH7*†	Damaging
6	16436518	C>A	M1I	ATXN1*	Damaging
9	8491033	T>C	S617G	PTPRD*†	Benign
18	12300979	A>T	L68F	TUBB6	Damaging
18	26977706	C>T	G329D	DSC1*	Damaging
Diagnostic and second relapse
2	206188753	C>T	Q1096‡ Q1128‡ Q1135‡ alternate transcripts	PARD3B*	Truncating
12	27699359	T>G	L238R	PPFIBP1*†	Damaging
12	102220090	G>A	R337C	C12orf42*†	Damaging
19	6257886	G>T	L212I	ACER1	Damaging
19	7034018	G>T	G179W isoform b G186W isoform a	ZNF557*	Unknown
20	52604889	G>A	R26Q	DOK5*	Damaging
sPCL
1	173333422	C>T	A612V	TNN*	Damaging
5	32634825	T>A	I66N	SUB1	Damaging
6	28435424	G>T	E28‡	ZKSCAN3*†	Truncating
10	84 006	C>A	G109V	TUBB8*	Damaging
13	47835092	G>T	E287‡	RB1*†	Truncating
17	73731163	A>T	R82‡	BIRC5	Truncating
18	21059590	C>T	E764K	ZNF521*	Damaging

SNV indicates single-nucleotide variant; sPCL, secondary plasma cell leukemia; and MMRC, Multiple Myeloma Research Consortium.

Genes identified as having confirmed somatic mutations in the COSMIC database.²²

†

Genes identified as mutated in the MMRC cohort.¹⁹

‡

Presence of a STOP codon.

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