Table 2.

Events detected by STAR in RAD51D with RNA‐seq compared to reference NM_002878. Combination of individual splicing events was inferred from CE‐data

Genomic coordinates start and end1		Description	HGVS nomenclature	Biotype	Functional Annotation2	Read counts				CE3	Davy et al.3	G/E4
						Targeted‐LCLs5	LCLs	breast	fimbria
33,448,761	33,455,841	Δ5′‐gen‐5’‐UTR	r.‐2,256 _‐2127del	terminal modification	unknown	27	0	0	0	‐	N
33,448,756	33,455,841	Δ5’‐gen‐5’‐UTR	r.‐2,256 _‐2124del	terminal modification	unknown	9	0	0	0	‐	N
33,446,192	33,448,309	Δ5’_1	r.‐1678_82del	Terminal modification+ cassette	Non‐Coding	25	0	0	0	‐	N	GE
33,434,467	33,448,309	Δ5’_3	r.‐1678_263del	Terminal modification+ multicassette	Non‐Coding	12	0	0	0	‐	N	G
33,433,501	33,448,309	Δ5’_5	r.‐1678_480del	Terminal modification+ multicassette	Non‐Coding	10	0	0	0	‐	N	GE
33,446,192	33,447,065	Δ1q515_1	r.‐433_82del	Terminal modification+ cassette	Non‐Coding	23	0	2	0	‐	N	GE
33,446,192	33,446,718	Δ1q168_1	r.‐86_82del	Terminal modification+ cassette	Non‐Coding	68	3	0	0	‐	Y	GE
33,434,467	33,446,550	Δ2,3	r.83_263del	multicassette	No Fs	70	1	0	0	Y	N
33,433,501	33,446,550	Δ2_5	r.83_480del	multicassette	PTC‐NMD	41	1	0	0	Y	N
33,434,467	33,446,129	Δ3	r.145_263del	cassette	PTC‐NMD	11,531	166	14	2	Y	Y	GE
33,444,057	33,446,129	Δ3+▾3A179	r.145_263del+r.263_264ins263+1464_263+1,642	cassette+cassette	No Fs	704	8	4	0	Y	Y	GE
33,443,812	33,446,129	Δ3+ ▾3B98	r.145_263del+r.263_264ins263+1709_263+1806	cassette+cassette	PTC‐NMD	12	0	0	0	Y	N
33,434,142	33,446,129	Δ3,4	r.145_345del	multicassette	No Fs	191	4	1	0	Y	Y
33,433,501	33,446,129	Δ3_5	r.145_480del	multicassette	No Fs	7,372	54	46	10	Y	Y	GE
33,433,497	33,446,129	Δ3_6p4	r.145_484del	multicassette+ aceptor shift	PTC‐NMD	23	1	0	0	Y	N
33,430,564	33,446,129	Δ3_6	r.145_576del	multicassette	No Fs	55	2	1	0	Y	Y
33,444,057	33,445,519	▾3A179	r.263_264ins263+1464_263+1,642	cassette	PTC‐NMD	788/1795	52/44	7/5	1/0	Y	Y	GE
33,443,812	33,445,519	▾3B98	r.263_264ins263+1709_263+1806	cassette	PTC‐NMD	14/62	11/2	0/0	0/0	N	Y
33,434,142	33,443,877	▾3A179+Δ4	r.263_264ins263+1464_263+1,642+264_345del	mixed	PTC‐NMD	20	0	0	0	N	N	G
33,433,501	33,443,877	▾3A179+Δ4,5	r.263_264ins263+1464_263+1,642+r.264_480del	mixed	PTC‐NMD	120	7	6	0	Y	Y	GE
33,434,142	33,445,519	Δ4	r.264_345del	cassette	PTC‐NMD	87	5	1	0	Y	N	GE
33,433,501	33,445,519	Δ4,5	r.264_480del	multicassette	PTC‐NMD	428	27	1	1	Y	Y	GE
33,434,142	33,434,401	Δ4q17	r.329_345del	donor shift	PTC‐NMD	33	3	0	0	Y	N
33,434,081	33,434,384	Δ5p61	r.346_406del	acceptor shift	PTC‐NMD	104	11	1	0	Y	Y	GE
33,433,501	33,434,384	Δ5	r.346_480del	cassette	No Fs	1,651	28	20	5	Y	Y	GE
33,433,497	33,434,006	Δ6p4	r.481_484del	acceptor shift	PTC‐NMD	81	0	0	0	Y	Y
33,433,310	33,433,404	▾6A163	r.576_577ins576+96_576+258	cassette	PTC‐NMD	68/1278	0/54	2/2	0/0	Y	N
33,433,269	33,433,404	▾6B122	r.576_577ins576+137_576+258	cassette	PTC‐NMD	1220/1278	45/54	5/2	0/0	Y	Y	GE
33,433,202	33,433,404	▾6C55	r.576_577ins576+204_576+258	cassette	PTC‐NMD	89/1278	1/54	0/2	0/0	Y	N
33,428,385	33,433,404	Δ7,8	r.577_738del	multicassette	No Fs	99	2	1	0	Y	Y
33,428,385	33,429,523	▾8Aa121	r.738_739ins738+629_738+749	cassette	PTC‐NMD	5/12	0/1	0/0	0/0	N	N
33,428,385	33,429,523	▾8B117	r.738_739ins738+633_738+749	cassette	No Fs	3/12	0/1	0/0	0/0	Y	N
33,428,401	33,430,272	▾9p16	r.738_739ins739‐16_739–1	acceptor shift	PTC‐NMD	31	0	0	0	N	Y
33,428,049	33,428,219	Δ10p7	r.904_910del	acceptor shift	FS‐alternative stop	108	1	0	0	Y	Y
33,427,911	33,428,219	Δ10p145	r.904_*61del	acceptor shift	FS‐alternative stop	89	0	4	0	N	Y
33,353,581	33,428,219	Δ10	r.904_*3161del	Terminal modification	To be defined	139	0	0	0	‐	N	G

¹ Genomic coordinates on chr 17, human genome built GRCh37.

² PTC‐NMD, premature‐stop codon‐ nonsense mRNA‐mediated decay; FS, frameshift.

³ Y, event was found; N, event was not found. ‐: not tested.

⁴ Events described in Gencode or Ensemble are shown with a G or E, respectively. GE is used if an event is described in both databases.

⁵ Read counts are shown as the average or read counts in the 4 samples. 2 numbers are shown for inserted exons.