Diagnostic Pathology

Table 1 The number of SNPs and different types of INDELs in different regions of the genome and in coding regions

From: Exome sequencing analysis of gastric primary myeloid sarcoma with monocytic differentiation with altered immunophenotype after chemotherapy: case report

SNP	Sample	CDS	Synonymous SNP	Missense SNP	Stop gain	Stop loss	Unknown	Intronic	UTR3	UTR5	Splicing	ncRNA exonic	ncRNA intronic	ncRNA splicing	Upstream	Downstream	Intergenic	Others	Total
	N	20,884	10,848	9583	60	7	386	62,359	3487	1854	483	1872	3245	17	1396	611	8233	116	104,557
	T	21,021	10,910	9663	64	8	376	66,146	3721	1963	495	1966	3537	18	1536	673	9518	122	110,716
INDEL	Sample	CDS	Frameshift deletion	Frameshift insertion	Non-frameshift deletion	Non-frameshift insertion	Stop gain	Stop loss	Unknown	Intronic	UTR3	UTR5	Splicing	ncRNA exonic	ncRNA intronic	ncRNA splicing	Upstream	Downstream	Intergenic	Others	Total
	N	501	62	46	172	142	2	1	76	8844	512	226	118	167	395	4	204	82	915	13	11,981
	T	538	69	53	187	152	2	1	74	9388	530	240	122	176	432	3	238	88	1038	12	12,805

SNP Single nucleotide polymorphism, INDEL Insertion or deletion mutation, ncRNA Non-coding RNA

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ISSN: 1746-1596

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