Table 1.

Recently mobile subfamilies (Q ≤ 1e-3) and their disease associations

Row number	TE subfamily	Avg. divergence (%)	Human specific of instances	True indel matches (pMEIs)	Expected indel matches	Fold enrichment	FDR (Q-value)	Disease pMEIa (germline)	Tumour pMEIb (somatic)
1	AluY	3.1	1986	259	0.63	412	~  0	7	28
2	AluYb8	1.3	2205	415	0.98	424	~  0	14	22
3	AluYa5	0.9	3091	705	1.56	451	~  0	25	35
4	L1HS	0.9	1180	142	0.68	210	5.4E-257	25	10,544
5	AluYb9	0.9	246	61	0.13	459	2.9E-126	5	23
6	AluYf4	2.1	274	53	0.12	446	2.8E-109		2
7	AluYg6	1.3	378	49	0.11	450	3.1E-101		4
8	AluYc	4.6	196	21	0.06	372	5.1E-42	4	5
9	AluYa8	1.6	111	19	0.04	496	1.0E-39		5
10	SVA_F	5.9	516	15	0.12	128	2.2E-24	6	11
11	AluYd8	1.1	152	11	0.03	321	1.9E-21
12	AluYk12	1.2	73	10	0.02	413	2.7E-20
13	AluYk11	1.8	71	9	0.03	319	1.5E-17
14	L1PA2	1.8	2157	16	0.54	29	8.9E-17
15	LTR5_Hs	2.2	142	9	0.04	223	1.6E-16
16	SVA_E	5.0	191	8	0.04	198	2.3E-14	6	6
17	AluYh9	4.9	24	6	0.02	298	1.4E-11		1
18	SVA_D	4.1	980	7	0.20	35	7.0E-08		5
19	L1P1	3.6	266	3	0.04	71	3.9E-04
20	AluYk4	4.3	34	2	0.00	496	5.6E-04

^a Hancks, D. C., & Kazazian, H. H. (2016). Roles for retrotransposon insertions in human disease. Mobile DNA, 7(1), 9

^bRodriguez-Martin, B. et.al. (2020). Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics, 52(3), 306–319