Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	T	T	rs66505048		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:38119859C>T	uc003atr.3	+	6	1567	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	TRIOBP_uc003atu.3_Silent_p.C260C|TRIOBP_uc003atq.1_Silent_p.C432C|TRIOBP_uc003ats.1_Silent_p.C260C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000														512			7		0	0	0.012319	0	0
DUSP11	8446	broad.mit.edu	37	2	74007136	74007136	+	Missense_Mutation	SNP	T	C	C	rs2272051	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:74007136T>C	uc002sjp.3	-	0	149	c.107A>G	c.(106-108)gAc>gGc	p.D36G	DUSP11_uc002sjq.4_Missense_Mutation_p.D36G	NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	0					RNA processing	nucleus	RNA binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CAATGCCAAGTCGGCCAAAAG	0.622000											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		151			6		0	0	0.001168	0	0
GAD1	2571	broad.mit.edu	37	2	171687567	171687567	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:171687567G>T	uc002ugi.3	+	4	834	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	GAD1_uc002ugh.3_Missense_Mutation_p.V138L	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	138					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTCCACCAAGGTGCTGGACTT	0.547000														374			57		1.33661e-31	1.42774e-31	0.014410	1	0
AXIN1	8312	broad.mit.edu	37	16	347159	347159	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:347159C>T	uc002cgp.2	-	6	2241	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.E618K	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	618	Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTGGCACCTCGGTGCTGGCG	0.612000														698			190		0	0	0.014410	0	0
GLB1	2720	broad.mit.edu	37	3	33038656	33038656	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:33038656C>T	uc011axk.1	-	16	2176	c.2059G>A	c.(2059-2061)Gtg>Atg	p.V687M	GLB1_uc003cfh.1_Missense_Mutation_p.V609M|GLB1_uc003cfi.1_Missense_Mutation_p.V639M|GLB1_uc003cfj.1_Missense_Mutation_p.V508M	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	639					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGCCTGTCCACGAACGTCACA	0.527000														386			74		0	0	0.014410	0	0
FMN2	56776	broad.mit.edu	37	1	240370125	240370125	+	Silent	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:240370125A>G	uc010pye.2	+	5	2250	c.2025A>G	c.(2023-2025)ggA>ggG	p.G675G	FMN2_uc010pyd.2_Silent_p.G671G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	671					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGTCTGAGGGACAGGCCACTG	0.433000														202			37		0	0	0.007835	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:150156360G>A	uc004fep.3	+	4	668	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(2)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000														160			7		0	0	0.001984	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755877	140755877	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:140755877G>A	uc003ljy.2	+	0	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.V743M	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	753					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V743M(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGAAGGGGT	0.612000														357			57		0	0	0.014410	0	0
KATNB1	10300	broad.mit.edu	37	16	57790798	57790798	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:57790798G>A	uc002eml.1	+	19	2282	c.1908G>A	c.(1906-1908)ctG>ctA	p.L636L		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	636	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGTCAGGCCTGAGCGGCCGCC	0.642000														26			5		0	0	0.014758	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056677	120056677	+	Silent	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:120056677C>T	uc001ehv.1	+	3	676	c.531C>T	c.(529-531)ggC>ggT	p.G177G		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	177					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGAAAAACGGCGGCACCCTGT	0.512000														353			89		0	0	0.014410	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:22155896A>C	uc021urr.1	-	3	2089	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000														528			6		0	0	0.006214	0	0
ZNF845	91664	broad.mit.edu	37	19	53855364	53855364	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:53855364C>T	uc010ydv.1	+	3	1553	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	ZNF845_uc010ydw.1_Missense_Mutation_p.T479I	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTT	0.378000														551			7		0	0	0.013537	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226570	43226570	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:43226570T>C	uc002iig.3	+	0	1887	c.13T>C	c.(13-15)Ttc>Ctc	p.F5L		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	5					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCCGAGCCATTCTTGTCAGA	0.458000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		459			215		0	0	0.014410	0	0
ZNF845	91664	broad.mit.edu	37	19	53855365	53855365	+	Silent	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:53855365A>G	uc010ydv.1	+	3	1554	c.1437A>G	c.(1435-1437)acA>acG	p.T479T	ZNF845_uc010ydw.1_Silent_p.T479T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGACATCATCCCTTG	0.378000														547			7		0	0	0.016723	0	0
AJAP1	55966	broad.mit.edu	37	1	4772349	4772349	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:4772349C>T	uc001alm.1	+	1	800	c.419C>T	c.(418-420)gCg>gTg	p.A140V	AJAP1_uc001aln.3_Missense_Mutation_p.A140V	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	140					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCGTCCTCCGCGGTGGCCGGT	0.716000														34			10		0	0	0.013537	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062807	66062807	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:66062807G>A	uc001ohl.3	+	1	1202	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	364						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CTCGGAGGCCGTGGTCATGGG	0.731000														32			4		0	0	0.009096	0	0
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:43318571G>A	uc001jaj.3	+	19	3496	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	1046					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.M1046I(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393000														618			9		0	0	0.008871	0	0
COL27A1	85301	broad.mit.edu	37	9	117062960	117062960	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:117062960G>A	uc011lxl.2	+	50	4694	c.4694G>A	c.(4693-4695)gGc>gAc	p.G1565D	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1565	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGCCACCTGGCTTGATGGTG	0.612000														150			30		0	0	0.013726	0	0
CORO2B	10391	broad.mit.edu	37	15	68937512	68937512	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:68937512C>T	uc002arj.4	+	1	323	c.29C>T	c.(28-30)cCg>cTg	p.P10L	CORO2B_uc021spj.1_Missense_Mutation_p.P5L|CORO2B_uc010bic.3_Missense_Mutation_p.P5L	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	10					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.R9C(1)|p.R9H(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCTGGCGTCCGCAATACCGT	0.622000														100			19		0	0	0.010504	0	0
PUS7L	83448	broad.mit.edu	37	12	44142334	44142334	+	Missense_Mutation	SNP	G	A	A	rs143739935	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:44142334G>A	uc001rns.4	-	2	1069	c.989C>T	c.(988-990)tCg>tTg	p.S330L	PUS7L_uc001rnq.4_Missense_Mutation_p.S330L|PUS7L_uc001rnr.4_Missense_Mutation_p.S330L|PUS7L_uc009zkb.3_Missense_Mutation_p.S17L	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	330					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity	p.S330S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACTAAAATCCGAAGGAATAAC	0.348000														281			162		0	0	0.014410	0	0
BUB1	699	broad.mit.edu	37	2	111399371	111399371	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:111399371G>T	uc002tgc.3	-	20	2585	c.2473C>A	c.(2473-2475)Cct>Act	p.P825T	BUB1_uc010yxh.2_Missense_Mutation_p.P805T|BUB1_uc010fkb.3_Missense_Mutation_p.P825T	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	825	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.K824T(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGGTTGGCAGGCTTTTGGACC	0.398000														676			111		1.19336e-48	1.312e-48	0.014410	1	0
BC101079	0	broad.mit.edu	37	15	102292829	102292829	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:102292829C>G	uc010usj.2	+	3	476	c.417C>G	c.(415-417)caC>caG	p.H139Q	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597000														107			5		0	0	0.001168	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	C	C	rs141357429	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000														85			4		0	0	0.014758	0	0
DNMBP	23268	broad.mit.edu	37	10	101716827	101716827	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:101716827G>T	uc001kqj.2	-	3	496	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	135					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGCGCTCTGGGAGTGCCACTG	0.617000														157			18		4.35082e-09	4.49425e-09	0.010504	1	0
ZNF845	91664	broad.mit.edu	37	19	53855197	53855197	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:53855197G>A	uc010ydv.1	+	3	1386	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	ZNF845_uc010ydw.1_Missense_Mutation_p.M423I	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGATGTCATCCCTTG	0.413000														765			9		0	0	0.013537	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:12187475C>G	uc002mtb.2	+	3	1683	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_uc010dym.1_Missense_Mutation_p.H357D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000														291			11		0	0	0.016723	0	0
STAP2	55620	broad.mit.edu	37	19	4328730	4328730	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:4328730G>A	uc002mab.3	-	5	723	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	STAP2_uc002mac.3_Missense_Mutation_p.R178W|STAP2_uc021unb.1_Missense_Mutation_p.R178W|STAP2_uc021unc.1_Missense_Mutation_p.R178W|STAP2_uc002mad.3_Missense_Mutation_p.R71W	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	178	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTGGGCCGCAGCAGCAGG	0.711000														74			3		0	0	0.009096	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000														41			13		0	0	0.007413	0	0
EGR1	1958	broad.mit.edu	37	5	137801526	137801526	+	Missense_Mutation	SNP	T	C	C	rs149170181	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:137801526T>C	uc003ldb.1	+	0	346	c.76T>C	c.(76-78)Tcg>Ccg	p.S26P		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	26					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTTTCCTCACTCGCCCACCAT	0.662000														409			8		0	0	0.003080	0	0
ALMS1	7840	broad.mit.edu	37	2	73675916	73675916	+	Silent	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:73675916T>C	uc002sje.1	+	7	2370	c.2259T>C	c.(2257-2259)acT>acC	p.T753T	ALMS1_uc002sjf.1_Silent_p.T711T|ALMS1_uc002sjg.3_Silent_p.T141T|ALMS1_uc002sjh.1_Silent_p.T141T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	753	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCAGAAGACTGAGATACCAG	0.443000														784			115		0	0	0.014410	0	0
ABCA6	23460	broad.mit.edu	37	17	67124787	67124787	+	Silent	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:67124787A>G	uc002jhw.1	-	7	1267	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	364					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAAAGGCAAAAGGGCTACAAA	0.373000														402			6		0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000														426			7		0	0	0.003080	0	0
EPB42	2038	broad.mit.edu	37	15	43499591	43499591	+	Missense_Mutation	SNP	G	A	A	rs115972761	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:43499591G>A	uc001zrb.4	-	8	1514	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	EPB42_uc001zqz.4_Missense_Mutation_p.T42M|EPB42_uc001zra.4_Missense_Mutation_p.T375M|EPB42_uc010udm.2_Missense_Mutation_p.T297M	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	375					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CAGCCCCAGCGTCCCCTCCTT	0.582000														163			46		0	0	0.014410	0	0
TCN2	6948	broad.mit.edu	37	22	31011344	31011344	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:31011344C>T	uc003aip.2	+	4	886	c.637C>T	c.(637-639)Cct>Tct	p.P213S	TCN2_uc003air.2_Missense_Mutation_p.P186S	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	213					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACTTCAACCCTGGTCGGAG	0.557000														380			63		0	0	0.014410	0	0
FBXW5	54461	broad.mit.edu	37	9	139838442	139838442	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:139838442C>G	uc004cjx.3	-	1	278	c.94G>C	c.(94-96)Gtg>Ctg	p.V32L	FBXW5_uc010nbx.3_5'Flank|FBXW5_uc004cjy.3_5'UTR|FBXW5_uc004cjz.3_5'UTR|C8G_uc004cka.2_5'Flank	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA.	32	F-box.						catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGCGGCACACCAGCCCGGCG	0.701000														25			7		0	0	0.006214	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904193	21904193	+	RNA	SNP	C	G	G	rs9904221	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:21904193C>G	uc002gza.2	+	0		c.132C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cagcctcaggcctgccaggac	0.672000														386			22		0	0	0.019004	0	0
PXDNL	137902	broad.mit.edu	37	8	52321614	52321614	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:52321614G>A	uc003xqu.4	-	16	2671	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	857					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATGCAGGGCGCGTGGGTGCC	0.682000														123			66		0	0	0.014410	0	0
SEPT7P2	641977	broad.mit.edu	37	7	45797714	45797714	+	RNA	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:45797714T>C	uc003tnh.3	-	2		c.523A>G			SEPT7P2_uc003tnf.4_Non-coding_Transcript					Homo sapiens septin 7 pseudogene 2 (SEPT7P2), non-coding RNA.																		TCTGTTCACTTGCGATTCTGC	0.383000														137			3		0	0	0.003080	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537580	28537580	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:28537580C>A	uc002hey.4	-	10	1946	c.1402G>T	c.(1402-1404)Gcc>Tcc	p.A468S	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	468					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATGACCACGGCGAGCACGAAC	0.597000														328			166		1.07822e-63	1.19238e-63	0.014410	1	0
PLXND1	23129	broad.mit.edu	37	3	129290644	129290644	+	Missense_Mutation	SNP	G	C	C	rs150425885	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:129290644G>C	uc003emx.2	-	15	3221	c.3121C>G	c.(3121-3123)Ctg>Gtg	p.L1041V		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1041	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGAGCCGGCAGGGCCCCCTCA	0.662000														187			5		0	0	0.001168	0	0
POTEF	728378	broad.mit.edu	37	2	130877893	130877893	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:130877893G>A	uc010fmh.2	-	2	596	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	66						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCAGTGGCGGCACCACTTG	0.602000														836			10		0	0	0.010729	0	0
CD209	30835	broad.mit.edu	37	19	7810835	7810835	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:7810835T>C	uc002mht.2	-	3	384	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.Q82R|CD209_uc002mhr.2_Missense_Mutation_p.Q82R|CD209_uc002mhs.2_Missense_Mutation_p.Q82R|CD209_uc002mhu.2_Missense_Mutation_p.Q106R|CD209_uc010dvq.2_Missense_Mutation_p.Q106R|CD209_uc002mhq.2_Missense_Mutation_p.Q106R|CD209_uc002mhv.2_Missense_Mutation_p.Q82R|CD209_uc002mhx.2_Missense_Mutation_p.Q62R|CD209_uc002mhw.2_Missense_Mutation_p.Q62R|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	106	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCTGGGTCAGCTC	0.562000														804			10		0	0	0.010729	0	0
MST1P9	11223	broad.mit.edu	37	1	17085872	17085872	+	Missense_Mutation	SNP	A	G	G	rs1806514	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:17085872A>G	uc010ock.2	-	7	949	c.949T>C	c.(949-951)Tgg>Cgg	p.W317R	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.W307R(1)|p.W317R(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCGAGGTTCCAGCAGAAGTTC	0.662000														120			4		0	0	0.001168	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904204	21904204	+	RNA	SNP	G	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:21904204G>T	uc002gza.2	+	0		c.143G>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgccaggacggtgttcgggt	0.677000														361			11		7.93312e-07	8.14987e-07	0.020292	1	0
DLG4	1742	broad.mit.edu	37	17	7106623	7106623	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7106623G>A	uc010vtn.2	-	5	611	c.351C>T	c.(349-351)ggC>ggT	p.G117G	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Silent_p.G174G|DLG4_uc002get.4_Silent_p.G220G|DLG4_uc010vto.2_Silent_p.G217G|DLG4_uc002geu.3_Silent_p.G174G	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	177	PDZ 1.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GGTTCCCTACGCCCCCTGCGA	0.587000														86			26		0	0	0.005443	0	0
ZNF831	128611	broad.mit.edu	37	20	57769548	57769548	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:57769548G>A	uc002yan.3	+	0	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1158						intracellular	nucleic acid binding|zinc ion binding	p.T1158T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCAGGGACGTCCCGGAGCC	0.672000														477			84		0	0	0.014410	0	0
GPR123	84435	broad.mit.edu	37	10	134906618	134906618	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:134906618T>C	uc001llw.3	+	9	1889	c.1889T>C	c.(1888-1890)cTg>cCg	p.L630P	GPR123_uc001llx.4_Intron			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GACACCTCACTGTGCAGGAAA	0.622000														102			4		0	0	0.014758	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	C	C	rs138265355	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:197348646T>C	uc011bug.2	-	3		c.445A>G			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		TGGGCCTGCCTGCCCTTTCCA	0.532000														481			8		0	0	0.020292	0	0
LCP1	3936	broad.mit.edu	37	13	46701838	46701838	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:46701838C>T	uc001vaz.4	-	15	1898	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q	LCP1_uc010ack.3_Missense_Mutation_p.R160Q|LCP1_uc001vay.4_Missense_Mutation_p.R188Q|LCP1_uc001vba.4_Missense_Mutation_p.R591Q	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	591	Actin-binding 2.|CH 4.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding	p.R591R(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCAATTTTTCGGGCCATAGA	0.488000			T	BCL6	NHL									528			77		0	0	0.014410	0	0
COL25A1	84570	broad.mit.edu	37	4	109784536	109784536	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:109784536C>T	uc021xqo.1	-	19	1147	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	COL25A1_uc003hze.1_Missense_Mutation_p.R364Q|COL25A1_uc021xqp.1_Missense_Mutation_p.R364Q|COL25A1_uc003hzg.3_Missense_Mutation_p.R364Q|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.R145Q	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	364	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.R364W(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGCTTCCCCCCGTTCACCCTG	0.502000														176			60		0	0	0.014410	0	0
ESAM	90952	broad.mit.edu	37	11	124623837	124623837	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:124623837C>T	uc001qav.4	-	6	1051	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.R220Q|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	293					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGCAGGGTCCGGGGAGCAAT	0.567000														105			39		0	0	0.014410	0	0
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:4619828A>C	uc010vsg.2	+	4	510	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_uc002fyj.3_Silent_p.P94P|ARRB2_uc002fyk.3_Silent_p.P79P|ARRB2_uc002fyl.3_Silent_p.P94P|ARRB2_uc002fym.3_Silent_p.P79P|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	94					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667000														131			13		0	0	0.010818	0	0
RBL1	5933	broad.mit.edu	37	20	35695516	35695516	+	Silent	SNP	G	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:35695516G>T	uc002xgi.3	-	4	644	c.565C>A	c.(565-567)Cgg>Agg	p.R189R	RBL1_uc002xgj.1_Silent_p.R189R|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	189					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCAATCATCCGAAAATTACCT	0.353000														254			41		2.95478e-19	3.10334e-19	0.008740	1	0
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	T	T	rs16962973		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:16285491C>T	uc002gpx.3	+	1	408	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.T90T	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	90	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.I89I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552000														421			6		0	0	0.001168	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:197657782C>T	uc002uts.3	-	2	466	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_uc010zgu.2_Silent_p.E103E|GTF3C3_uc002utu.3_Silent_p.E103E	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000														271			6		0	0	0.001984	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462858	21462858	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:21462858C>T	uc003cce.3	-	7	1444	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	346	Poly-Ala.					nucleus	nucleic acid binding|zinc ion binding	p.A345P(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						actgctgctgcggctgctgca	0.517000														78			18		0	0	0.010504	0	0
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	T	T	rs410211		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:23544783C>T	uc002nre.3	-	3	1111	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_uc010xrj.2_Missense_Mutation_p.R301H	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	333				R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393000														660			9		0	0	0.016723	0	0
UNC79	57578	broad.mit.edu	37	14	94120314	94120314	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:94120314G>A	uc001ybv.1	+	35	5960	c.5877G>A	c.(5875-5877)tcG>tcA	p.S1959S	UNC79_uc001ybs.1_Silent_p.S1937S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2114						integral to membrane		p.S2136S(1)|p.S1937S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTAGCCTCGTCTCTGATGG	0.502000														603			131		0	0	0.014410	0	0
TMC3	342125	broad.mit.edu	37	15	81654605	81654605	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:81654605A>G	uc021ssk.1	-	3	350	c.350T>C	c.(349-351)gTg>gCg	p.V117A	TMC3_uc021ssj.1_Missense_Mutation_p.V117A|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.V117A	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	117						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAAGATGACCACAAAGTTACA	0.478000														116			6		0	0	0.001168	0	0
GLMN	11146	broad.mit.edu	37	1	92737124	92737124	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:92737124A>G	uc001dor.3	-	7	936	c.821T>C	c.(820-822)tTt>tCt	p.F274S	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Missense_Mutation_p.F274S	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	274	Poly-Glu.				muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTCTTCTTCAAATTCAAGGTA	0.353000									Multiple Glomus Tumors (of the Skin), Familial					355			82		0	0	0.014410	0	0
DCAF17	80067	broad.mit.edu	37	2	172330428	172330428	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:172330428T>A	uc002ugx.3	+	9	1361	c.1034T>A	c.(1033-1035)aTc>aAc	p.I345N	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Intron|DCAF17_uc010fqg.3_Missense_Mutation_p.I65N	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	345						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TCTGACTGGATCTATTTCCAT	0.348000														242			32		0	0	0.006999	0	0
CDC42	998	broad.mit.edu	37	1	22405018	22405018	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:22405018A>G	uc001bfq.3	+	2	339	c.47A>G	c.(46-48)aAa>aGa	p.K16R	CDC42_uc009vqg.1_Missense_Mutation_p.K16R|CDC42_uc001bfp.3_Missense_Mutation_p.K16R|CDC42_uc009vqh.3_5'UTR|CDC42_uc001bfr.3_Missense_Mutation_p.K16R|CDC42_uc010odr.2_Missense_Mutation_p.K16R|CDC42_uc010ods.2_5'UTR	NM_001039802	NP_001782	P60953	CDC42_HUMAN	Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.	16					T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GCTGTTGGTAAAACATGTCTC	0.358000														347			75		0	0	0.014410	0	0
RGMA	56963	broad.mit.edu	37	15	93588562	93588562	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:93588562C>T	uc010urc.2	-	3	1274	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	RGMA_uc002bsq.2_Missense_Mutation_p.R324H|RGMA_uc021svs.1_Missense_Mutation_p.R324H|RGMA_uc021svt.1_Missense_Mutation_p.R324H|RGMA_uc010boi.2_Missense_Mutation_p.R231H|RGMA_uc002bsr.2_Missense_Mutation_p.R231H|RGMA_uc021svu.1_Missense_Mutation_p.R324H|RGMA_uc002bss.2_Missense_Mutation_p.R340H	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	340					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGCCAGCCTGCGGGCACCGGT	0.672000														44			34		0	0	0.021022	0	0
PSG3	5671	broad.mit.edu	37	19	43233357	43233357	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:43233357C>A	uc002oue.3	-	4	1293	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Missense_Mutation_p.K387N	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	387	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCCCGCTATGCTTTGTAGTAA	0.468000														904			12		1.01871e-10	1.05811e-10	0.008871	1	0
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	C	C	rs121913240		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:25380276T>C	uc001rgp.1	-	2	363	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_uc001rgq.1_Missense_Mutation_p.Q61R	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(144)|p.Q61R(112)|p.Q61K(32)|p.Q61P(24)|p.Q61E(10)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60G(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				305			130		0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7578254	7578254	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7578254C>A	uc002gim.2	-	5	789	c.595G>T	c.(595-597)Gga>Tga	p.G199*	TP53_uc002gig.1_Nonsense_Mutation_p.G199*|TP53_uc002gih.3_Nonsense_Mutation_p.G199*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.G67*|TP53_uc010cnf.1_Nonsense_Mutation_p.G67*|TP53_uc002gii.1_Nonsense_Mutation_p.G67*|TP53_uc010cni.1_Nonsense_Mutation_p.G199*|TP53_uc010cnh.1_Nonsense_Mutation_p.G199*|TP53_uc002gij.2_Nonsense_Mutation_p.G199*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.G106*|TP53_uc002gio.2_Nonsense_Mutation_p.G67*|TP53_uc010vug.2_Nonsense_Mutation_p.G160*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	199	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E198*(21)|p.G199R(18)|p.G199E(11)|p.0?(8)|p.G199V(7)|p.G199*(6)|p.E198K(5)|p.?(5)|p.G199fs*48(4)|p.E198fs*11(2)|p.G199fs*42(2)|p.E198fs*7(2)|p.I195_G199delIRVEG(2)|p.E198Q(2)|p.E198_L201>V(2)|p.E198_G199ins21(2)|p.G199G(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.P191_E198>Q(1)|p.N200fs*4(1)|p.E198G(1)|p.G199A(1)|p.E198fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCAAATTTCCTTCCACTCGG	0.547000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				179			99		8.11351e-46	8.86826e-46	0.014410	1	0
PRKDC	5591	broad.mit.edu	37	8	48790345	48790345	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:48790345C>T	uc003xqi.3	-	40	5357	c.5300G>A	c.(5299-5301)cGg>cAg	p.R1767Q	PRKDC_uc003xqj.3_Missense_Mutation_p.R1767Q	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1768					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGCTGTTCCCGACAAAGAAC	0.383000								Non-homologous end-joining						698			42		0	0	0.014410	0	0
EPPK1	83481	broad.mit.edu	37	8	144941454	144941454	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144941454A>C	uc003zaa.1	-	0	5981	c.5968T>G	c.(5968-5970)Ttc>Gtc	p.F1990V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1990						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCCTGGAACAGCGGGATC	0.647000														239			5		0	0	0.001168	0	0
TMTC4	84899	broad.mit.edu	37	13	101289837	101289837	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:101289837G>A	uc001vot.3	-	8	1267	c.954C>T	c.(952-954)acC>acT	p.T318T	TMTC4_uc001vou.3_Silent_p.T299T|TMTC4_uc010tja.2_Silent_p.T188T|TMTC4_uc001vov.1_Silent_p.T44T|TMTC4_uc001vow.1_Silent_p.T82T	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	299						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTCCACCTCGGTGAAGGCCG	0.642000														365			165		0	0	0.014410	0	0
ATP4A	495	broad.mit.edu	37	19	36053403	36053403	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:36053403G>A	uc002oal.1	-	3	383	c.354C>T	c.(352-354)gcC>gcT	p.A118A		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	118					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGATGGCGGCGGCAACCCACA	0.657000														189			11		0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179638314	179638314	+	Missense_Mutation	SNP	C	T	T	rs148920986	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:179638314C>T	uc021vsy.1	-	31	7694	c.7469G>A	c.(7468-7470)cGt>cAt	p.R2490H	TTN_uc021vsz.1_Missense_Mutation_p.R2444H|TTN_uc021vta.1_Missense_Mutation_p.R2444H|TTN_uc021vtb.1_Missense_Mutation_p.R2444H|TTN_uc002unb.2_Missense_Mutation_p.R2490H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2490	Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGTACACGGTCATCAGG	0.438000														529			13		0	0	0.016723	0	0
FMN2	56776	broad.mit.edu	37	1	240371066	240371066	+	Missense_Mutation	SNP	G	T	T	rs141912031		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:240371066G>T	uc010pye.2	+	5	3191	c.2966G>T	c.(2965-2967)gGc>gTc	p.G989V	FMN2_uc010pyd.2_Missense_Mutation_p.G985V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	985	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G1128A(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCGGAGCGGGCATACCCCCT	0.716000														508			32		1.30409e-13	1.36205e-13	0.014410	1	0
SNCB	6620	broad.mit.edu	37	5	176053645	176053645	+	Missense_Mutation	SNP	C	G	G	rs2291441	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:176053645C>G	uc010jke.1	-	1	633	c.239G>C	c.(238-240)cGg>cCg	p.R80P	SNCB_uc021yij.1_Intron|SNCB_uc003mep.3_Intron|SNCB_uc003meq.3_Intron|SNCB_uc021yig.1_Intron|SNCB_uc021yih.1_Intron|SNCB_uc021yii.1_Intron			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTCTCCCCCGCCCCCGCCC	0.647000														186			5		0	0	0.014758	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801329	185801329	+	Silent	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:185801329A>G	uc002uph.3	+	3	1800	c.1206A>G	c.(1204-1206)tcA>tcG	p.S402S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	402						intracellular	zinc ion binding	p.P401T(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGCCCCTTCAAATACTGAAG	0.388000														378			57		0	0	0.014410	0	0
GZMM	3004	broad.mit.edu	37	19	547332	547332	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:547332G>A	uc002low.1	+	1	153	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_005317	NP_005308	P51124	GRAM_HUMAN	Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.	36	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCCACTCGCGCCCGTACA	0.667000														551			27		0	0	0.012213	0	0
EED	8726	broad.mit.edu	37	11	85967469	85967469	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:85967469G>C	uc001pbp.3	+	4	933	c.467G>C	c.(466-468)aGc>aCc	p.S156T	EED_uc010rtm.2_Missense_Mutation_p.S156T|EED_uc001pbq.3_Missense_Mutation_p.S156T|EED_uc001pbr.3_Missense_Mutation_p.S156T|EED_uc010rtn.1_5'Flank	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	156	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ACCTATGATAGCAATACGAGC	0.353000														286			44		0	0	0.014410	0	0
ZNF649	65251	broad.mit.edu	37	19	52394736	52394736	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:52394736T>C	uc002pxy.3	-	4	979	c.653A>G	c.(652-654)aAg>aGg	p.K218R	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACTTCTTGTAGAA	0.483000														599			9		0	0	0.013537	0	0
ZFHX3	463	broad.mit.edu	37	16	72830417	72830417	+	Missense_Mutation	SNP	G	A	A	rs144401383		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:72830417G>A	uc002fck.3	-	8	6837	c.6164C>T	c.(6163-6165)cCg>cTg	p.P2055L	ZFHX3_uc002fcl.3_Missense_Mutation_p.P1141L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2055					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCTGAGGCGGCGCTGCCGG	0.662000														354			50		0	0	0.014410	0	0
LOC729862	729862	broad.mit.edu	37	5	28927036	28927036	+	RNA	SNP	A	G	G	rs434405	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:28927036A>G	uc003jgz.1	+	0		c.60A>G								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		CTCAGTCTGCAGCCAAGACTC	0.577000														117			5		0	0	0.008291	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:134218293A>C	uc001lll.4	+	1	318	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_uc009ybe.3_Missense_Mutation_p.T97P	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756000														102			10		0	0	0.008871	0	0
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:129370592T>A	uc021xdy.1	-	5	2128	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_uc003emy.4_Missense_Mutation_p.Q241L|TMCC1_uc011blc.2_Missense_Mutation_p.Q386L|TMCC1_uc010htg.3_Missense_Mutation_p.Q451L	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572000														449			7		0	0	0.001984	0	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:12187275G>C	uc002mtb.2	+	3	1483	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_uc010dym.1_Missense_Mutation_p.R290P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000														453			10		0	0	0.020292	0	0
C9orf89	84270	broad.mit.edu	37	9	95875280	95875280	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:95875280A>G	uc004atd.3	+	5	621	c.443A>G	c.(442-444)aAg>aGg	p.K148R	C9orf89_uc004atf.3_Non-coding_Transcript	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN	Homo sapiens chromosome 9 open reading frame 89 (C9orf89), mRNA.	155					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CTAGACCCCAAGGGCCTGCCA	0.602000														91			3		0	0	0.009096	0	0
FAM22F	54754	broad.mit.edu	37	9	97082793	97082793	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:97082793C>G	uc004aup.1	-	4	1086	c.1065G>C	c.(1063-1065)aaG>aaC	p.K355N		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	355	Pro-rich.							p.K236N(5)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				GCAGGTGGGCCTTGGTCTCCG	0.706000														214			5		0	0	0.001168	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														62			3		0	0	0.004672	0	0
NMT1	4836	broad.mit.edu	37	17	43174523	43174523	+	Silent	SNP	C	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:43174523C>A	uc002ihz.3	+	5	642	c.624C>A	c.(622-624)ccC>ccA	p.P208P		NM_021079	NP_066565	P30419	NMT1_HUMAN	Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA.	208					N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GCTGGCTCCCCCAGTGGCACT	0.597000											OREG0024469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		568			92		3.06722e-38	3.33316e-38	0.014410	1	0
RTN3	10313	broad.mit.edu	37	11	63472339	63472339	+	Silent	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:63472339C>T	uc001nxq.3	+	1	346	c.159C>T	c.(157-159)tcC>tcT	p.S53S	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Intron|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Silent_p.S53S|RTN3_uc001nxn.3_Intron|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	53					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTGTTTCTTCCTCTTCCTCTC	0.363000														385			127		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9070332	9070332	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:9070332G>A	uc002mkp.3	-	2	17318	c.17114C>T	c.(17113-17115)gCg>gTg	p.A5705V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5707	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGTGTGCGCAGTGTCTTT	0.502000														337			57		0	0	0.014410	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76634956	76634956	+	RNA	SNP	G	C	C	rs115661670	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:76634956G>C	uc011kgn.1	+	5		c.959G>C			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		GACGCTGCCCGTGTCTCCGGA	0.692000														75			6		0	0	0.010729	0	0
GPR124	25960	broad.mit.edu	37	8	37692836	37692836	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:37692836G>A	uc003xkj.3	+	11	2139	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	585					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACCTGAGCCCGAGCCCCCAGC	0.687000														100			16		0	0	0.006122	0	0
GIT2	9815	broad.mit.edu	37	12	110390957	110390957	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:110390957G>A	uc001tps.2	-	12	1347	c.1182C>T	c.(1180-1182)agC>agT	p.S394S	TCHP_uc001tpo.1_Non-coding_Transcript|GIT2_uc001tpq.2_Silent_p.S394S|GIT2_uc001tpv.2_Silent_p.S396S|GIT2_uc001tpu.2_Silent_p.S394S|GIT2_uc001tpt.2_Silent_p.S394S|GIT2_uc010sxu.1_Silent_p.S332S|GIT2_uc001tpw.3_Silent_p.S394S|GIT2_uc010sxv.1_Silent_p.S394S	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	394					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTGATGCCACGCTGTCATAGT	0.488000														374			8		0	0	0.003080	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619399	144619399	+	Silent	SNP	G	A	A	rs4067645	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:144619399G>A	uc009wig.1	+	5	734	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	182								p.A179D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGAGAAAGTGCAGAAATCAT	0.413000														801			13		0	0	0.016522	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	A	A	rs146082308		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:7810767G>A	uc002mht.2	-	3	452	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105W|CD209_uc002mhr.2_Missense_Mutation_p.R105W|CD209_uc002mhs.2_Missense_Mutation_p.R105W|CD209_uc002mhu.2_Missense_Mutation_p.R129W|CD209_uc010dvq.2_Missense_Mutation_p.R129W|CD209_uc002mhq.2_Missense_Mutation_p.R129W|CD209_uc002mhv.2_Missense_Mutation_p.R105W|CD209_uc002mhx.2_Missense_Mutation_p.R85W|CD209_uc002mhw.2_Missense_Mutation_p.R85W|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(6)|p.T128T(1)|p.R129R(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000														847			10		0	0	0.003163	0	0
BFAR	51283	broad.mit.edu	37	16	14749057	14749057	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:14749057G>C	uc002dco.3	+	4	1054	c.773G>C	c.(772-774)tGg>tCg	p.W258S	BFAR_uc010uzh.2_Missense_Mutation_p.W130S	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	258					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CAGAATCTCTGGGAATATAAG	0.333000														334			124		0	0	0.014410	0	0
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:114270018G>A	uc003vhb.3	+	4	929	c.555G>A	c.(553-555)caG>caA	p.Q185Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q210Q|FOXP2_uc003vha.3_Silent_p.Q93Q|FOXP2_uc011kmv.2_Silent_p.Q185Q|FOXP2_uc011kmu.2_Silent_p.Q202Q|FOXP2_uc010ljz.2_Silent_p.Q93Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q185Q|FOXP2_uc003vgx.2_Silent_p.Q185Q|FOXP2_uc003vhc.3_Silent_p.Q210Q|FOXP2_uc003vhd.3_Silent_p.Q185Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	185	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502000														238			5		0	0	0.001168	0	0
CIAO1	9391	broad.mit.edu	37	2	96933171	96933171	+	Silent	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:96933171C>T	uc002svs.3	+	1	457	c.252C>T	c.(250-252)acC>acT	p.T84T	TMEM127_uc002svq.3_5'Flank|TMEM127_uc002svr.3_5'Flank	NM_004804	NP_004795	O76071	CIAO1_HUMAN	Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA.	84					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TTGATGCTACCACTTGCATTT	0.552000														399			137		0	0	0.014410	0	0
FURIN	5045	broad.mit.edu	37	15	91419516	91419516	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:91419516G>A	uc002bpu.1	+	2	425	c.209G>A	c.(208-210)cGa>cAa	p.R70Q		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	70					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTCTGGCATCGAGGAGTGACG	0.657000														538			102		0	0	0.014410	0	0
ZNF844	284391	broad.mit.edu	37	19	12187502	12187502	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:12187502A>G	uc002mtb.2	+	3	1710	c.1567A>G	c.(1567-1569)Aaa>Gaa	p.K523E	ZNF844_uc010dym.1_Missense_Mutation_p.K366E	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K523E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CAAATGCATGAAAGGACTCAC	0.413000														222			6		0	0	0.003080	0	0
GPR98	84059	broad.mit.edu	37	5	89977223	89977223	+	Silent	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:89977223T>C	uc003kju.3	+	26	5712	c.5616T>C	c.(5614-5616)ttT>ttC	p.F1872F	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1872					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTCACTCTTTGTCAGTGGAA	0.423000														131			28		0	0	0.008361	0	0
NTF3	4908	broad.mit.edu	37	12	5603687	5603687	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:5603687C>T	uc001qnl.4	+	0	390	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	NTF3_uc001qnk.4_Missense_Mutation_p.R116W	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	103					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.P102Q(1)|p.P102L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CAACTCACCGCGGGTCCTGCT	0.642000														358			53		0	0	0.014410	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:57187809T>G	uc010kzo.3	-	4	1584	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453000														403			11		0	0	0.004990	0	0
NPIP	9284	broad.mit.edu	37	16	15457676	15457676	+	Silent	SNP	A	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:15457676A>G	uc010bvf.1	-	8	837	c.837T>C	c.(835-837)tcT>tcC	p.S279S				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	281	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											CGCTGAGGGTAGAGCTGAGGG	0.562000														615			9		0	0	0.005443	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415859	5415859	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr18:5415859G>A	uc002kmt.1	-	12	2111	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	675	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTAGGGAGGCGCTCAAGGAGG	0.577000														239			71		0	0	0.014410	0	0
IGSF10	285313	broad.mit.edu	37	3	151155880	151155880	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:151155880C>A	uc011bod.2	-	5	6469	c.6469G>T	c.(6469-6471)Gac>Tac	p.D2157Y	IGSF10_uc011bob.2_Missense_Mutation_p.D184Y|IGSF10_uc011boc.2_Missense_Mutation_p.D136Y	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2157	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAGCTGTGTCTCCAGCTTTG	0.443000														432			69		1.43675e-24	1.52604e-24	0.014410	1	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414201	19414201	+	RNA	SNP	G	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:19414201G>C	uc010tcj.1	-	0		c.31909C>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CAACTTCTTTGTTATATTGTT	0.318000														156			5		0	0	0.004656	0	0
CCDC39	339829	broad.mit.edu	37	3	180334120	180334120	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:180334120T>G	uc010hxe.3	-	18	2733	c.2618A>C	c.(2617-2619)aAa>aCa	p.K873T	CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	873	Ser-rich.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACGACTGCCTTTTGTGCTAGC	0.373000														182			113		0	0	0.014410	0	0
NRSN1	140767	broad.mit.edu	37	6	24146060	24146060	+	Silent	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:24146060C>T	uc010jpq.1	+	3	711	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	158					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.I158I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AAGAACGAATCGCAGACATCA	0.498000														243			47		0	0	0.014410	0	0
SRPK1	6732	broad.mit.edu	37	6	35810348	35810348	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:35810348C>T	uc003olj.3	-	13	1778	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	SRPK1_uc003olh.3_Missense_Mutation_p.E445K|SRPK1_uc003oli.3_Missense_Mutation_p.E445K|SRPK1_uc011dtg.2_Missense_Mutation_p.E536K	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	552	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E551Q(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GAATGAGGTTCAAACAAATAG	0.418000														130			28		0	0	0.013726	0	0
LILRB5	10990	broad.mit.edu	37	19	54754807	54754807	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:54754807G>A	uc010yer.1	-	12	1939	c.1828C>T	c.(1828-1830)Ccc>Tcc	p.P610S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	0					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCAGCGGGGGAGAGTGAGA	0.622000														116			3		0	0	0.004482	0	0
OR52K2	119774	broad.mit.edu	37	11	4471098	4471098	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:4471098G>A	uc001lyz.2	+	0	574	c.529G>A	c.(529-531)Gct>Act	p.A177T		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCAGTGATCGCTCACTGCTA	0.547000														520			100		0	0	0.014410	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120006	38120006	+	Silent	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:38120006T>C	uc003atr.3	+	6	1714	c.1443T>C	c.(1441-1443)tgT>tgC	p.C481C	TRIOBP_uc003atu.3_Silent_p.C309C|TRIOBP_uc003atq.1_Silent_p.C481C|TRIOBP_uc003ats.1_Silent_p.C309C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	481					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C481C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGTGCCCAGCGGG	0.592000														391			7		0	0	0.018920	0	0
SERPINA3	12	broad.mit.edu	37	14	95080911	95080911	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:95080911G>A	uc001ydp.3	+	1	292	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	SERPINA3_uc001ydo.4_Missense_Mutation_p.V70M|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.V45M|SERPINA3_uc001yds.3_Missense_Mutation_p.V45M	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	45					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.V45M(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGGACACACGTGGACCTCGG	0.572000														629			118		0	0	0.014410	0	0
GCM2	9247	broad.mit.edu	37	6	10882008	10882008	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:10882008G>A	uc003mzn.4	-	0	91	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	7					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACCGCTTCCTGCACCGCGGCC	0.602000														169			34		0	0	0.021022	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														61			17		0	0	0.010504	0	0
MUC5B	727897	broad.mit.edu	37	11	1264187	1264187	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:1264187C>T	uc001lta.3	+	30	6136	c.6077C>T	c.(6076-6078)aCg>aTg	p.T2026M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2026	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTACCGCCACGGCCACCACA	0.637000														788			10		0	0	0.008291	0	0
PTPRS	5802	broad.mit.edu	37	19	5210704	5210704	+	Silent	SNP	G	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:5210704G>T	uc002mbv.3	-	33	5581	c.5347C>A	c.(5347-5349)Cgg>Agg	p.R1783R	PTPRS_uc002mbu.1_Silent_p.R1352R|PTPRS_uc010xin.2_Silent_p.R1325R|PTPRS_uc002mbw.3_Silent_p.R1745R|PTPRS_uc002mbx.3_Silent_p.R1340R|PTPRS_uc002mby.3_Silent_p.R1336R	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1783	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCCATCTCCCGCAGCTTGGTC	0.647000														214			65		4.01556e-35	4.31386e-35	0.014410	1	0
ATP13A2	23400	broad.mit.edu	37	1	17320259	17320259	+	Silent	SNP	G	A	A	rs56351817	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:17320259G>A	uc001baa.2	-	15	1804	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P	ATP13A2_uc001bac.2_Silent_p.P533P|ATP13A2_uc001bab.2_Silent_p.P533P	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	538					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CTGGGACCAGGGGCAGGAATG	0.711000														32			3		0	0	0.004672	0	0
C10orf62	414157	broad.mit.edu	37	10	99350210	99350210	+	Silent	SNP	C	A	A	rs145450971	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:99350210C>A	uc001koa.3	+	0	761	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.	186							protein binding	p.R186Q(1)		endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CCTCACCCAGCGGGAAAACAC	0.567000														523			84		3.30373e-36	3.56955e-36	0.014410	1	0
MC3R	4159	broad.mit.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:54824818C>T	uc002xxb.2	+	0	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517000														843			33		0	0	0.015359	0	0
AGPAT9	84803	broad.mit.edu	37	4	84508424	84508424	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:84508424A>T	uc003how.3	+	4	714	c.496A>T	c.(496-498)Att>Ttt	p.I166F	AGPAT9_uc003hox.3_Missense_Mutation_p.I166F|AGPAT9_uc003hoy.3_Missense_Mutation_p.I166F	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	166					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTGGCTTTCATTGGGATCAG	0.398000														501			182		0	0	0.014410	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									235			8		0	0	0.003080	0	0
PKDCC	91461	broad.mit.edu	37	2	42281326	42281326	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:42281326C>T	uc002rsg.3	+	2	1092	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA.	305	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GGAGGAGACGCCGTGTGCAGG	0.637000														54			11		0	0	0.008291	0	0
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:112058796C>T	uc004epr.3	-	1	1200	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_uc004eps.3_5'UTR|AMOT_uc004ept.1_Silent_p.Q394Q	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582000														93			3		0	0	0.004672	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904197	21904197	+	RNA	SNP	C	T	T	rs9904223	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:21904197C>T	uc002gza.2	+	0		c.136C>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctcaggcctgccaggacggtg	0.672000														375			21		0	0	0.015359	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430910	37430910	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:37430910C>T	uc021ppc.1	+	6	1016	c.917C>T	c.(916-918)aCg>aTg	p.T306M	ANKRD30A_uc001iza.1_Missense_Mutation_p.T306M	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGGGAAATTACGAGTCCTGCA	0.433000														291			62		0	0	0.014410	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935450	151935450	+	Missense_Mutation	SNP	C	G	G	rs34645170		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:151935450C>G	uc022chl.1	-	0	717	c.717G>C	c.(715-717)ttG>ttC	p.L239F	MAGEA3_uc004fgp.3_Missense_Mutation_p.L239F	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	239	MAGE.							p.I238I(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATCCCCCAAGATACTGT	0.537000														332			163		0	0	0.014410	0	0
GPR151	134391	broad.mit.edu	37	5	145895652	145895652	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:145895652A>C	uc003lod.1	-	0	25	c.25T>G	c.(25-27)Tct>Gct	p.S9A		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	9						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGTTAGAGTCTGCAAAG	0.498000														531			89		0	0	0.014410	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276879	71276879	+	Silent	SNP	G	T	T	rs36179995		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:71276879G>T	uc001oqt.1	+	0	271	c.246G>T	c.(244-246)ggG>ggT	p.G82G		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	82	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.K81K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAAGGGGGCTGTGGTT	0.682000														752			12		8.34094e-07	8.52226e-07	0.008871	1	0
GUCY2F	2986	broad.mit.edu	37	X	108636151	108636151	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:108636151G>A	uc022cch.1	-	11	2643	c.2558C>T	c.(2557-2559)aCg>aTg	p.T853M	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.T853M	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	853					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGCTTTTCCGTTTTCTGTTT	0.383000														235			108		0	0	0.014410	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	G	G	rs7247257		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:53116885A>G	uc002pzu.4	-	1	2177	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_uc002pzv.4_Silent_p.H311H|ZNF83_uc010eps.3_Silent_p.H283H|ZNF83_uc010ept.3_Silent_p.H311H|ZNF83_uc010epu.3_Silent_p.H311H|ZNF83_uc010epw.3_Silent_p.H311H|ZNF83_uc010epv.3_Silent_p.H311H|ZNF83_uc010epx.3_Silent_p.H283H|ZNF83_uc010epy.3_Silent_p.H311H|ZNF83_uc010epz.3_Silent_p.H283H|ZNF83_uc010eqb.2_Silent_p.H283H|ZNF83_uc021uyx.1_Silent_p.H311H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000														825			15		0	0	0.006122	0	0
ZNF57	126295	broad.mit.edu	37	19	2917807	2917807	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:2917807A>C	uc002lwr.3	+	3	1336	c.1188A>C	c.(1186-1188)caA>caC	p.Q396H	ZNF57_uc010xha.2_Missense_Mutation_p.Q364H	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTGAACAATGTGGGAAGG	0.428000														531			8		0	0	0.003163	0	0
PEG3	5178	broad.mit.edu	37	19	57328017	57328017	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:57328017C>T	uc002qnu.2	-	6	2144	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R569H|PEG3_uc002qnv.2_Missense_Mutation_p.R598H|PEG3_uc002qnw.2_Missense_Mutation_p.R474H|PEG3_uc002qnx.2_Missense_Mutation_p.R472H|PEG3_uc010etr.2_Missense_Mutation_p.R598H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	598					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R598H(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcacgttcatgttc	0.458000														246			54		0	0	0.014410	0	0
EPPK1	83481	broad.mit.edu	37	8	144945204	144945204	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144945204C>T	uc003zaa.1	-	0	2231	c.2218G>A	c.(2218-2220)Gtg>Atg	p.V740M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	740						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACGTCCACGGGCACGCGG	0.657000														567			71		0	0	0.014410	0	0
FAM83H	286077	broad.mit.edu	37	8	144808660	144808660	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144808660G>A	uc003yzk.3	-	4	3040	c.2971C>T	c.(2971-2973)Cag>Tag	p.Q991*		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	991					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGTTCTCCTGCGGCACTGGG	0.692000														103			29		0	0	0.012213	0	0
XYLT2	64132	broad.mit.edu	37	17	48435627	48435627	+	Silent	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:48435627G>A	uc002iqo.3	+	9	2110	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	667					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGTTACTGGGGCCGCTGGACG	0.627000														133			29		0	0	0.013726	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634760	70634760	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:70634760C>T	uc001xly.3	-	1	1134	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	SLC8A3_uc001xlw.3_Missense_Mutation_p.R127Q|SLC8A3_uc001xlx.3_Missense_Mutation_p.R127Q|SLC8A3_uc001xlz.3_Missense_Mutation_p.R127Q|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	127					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTCCAGACCCGAATAGTGGT	0.483000														294			48		0	0	0.014410	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414116	19414116	+	RNA	SNP	C	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:19414116C>T	uc010tcj.1	-	0		c.31994G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGATTTACCTGATTTGGA	0.269000														111			10		0	0	0.008361	0	0
ATAD5	79915	broad.mit.edu	37	17	29167753	29167753	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:29167753C>G	uc002hfs.1	+	3	2538	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	ATAD5_uc002hft.1_Missense_Mutation_p.S629C	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	732					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGCGCTCCTCTAGACATCAG	0.348000														427			74		0	0	0.014410	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000														619			24		0	0	0.010818	0	0
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:21606712T>C	uc002npw.3	+	3	1370	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S	ZNF493_uc002npx.3_Silent_p.S289S|ZNF493_uc002npy.3_Silent_p.S289S|ZNF493_uc021urq.1_Silent_p.S289S	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348000														272			4		0	0	0.013537	0	0
SIK3	23387	broad.mit.edu	37	11	116729339	116729339	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:116729339G>A	uc001ppy.3	-	19	2560	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	SIK3_uc001ppz.3_Intron|SIK3_uc001pqa.3_Intron|SIK3_uc001ppw.3_Intron|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_Missense_Mutation_p.R145W	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	842	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGGGAACCCCGGGACTGGTCC	0.567000														596			99		0	0	0.014410	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														99			9		0	0	0.010729	0	0
SMG1	23049	broad.mit.edu	37	16	18887642	18887642	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:18887642T>C	uc002dfm.3	-	12	2057	c.1694A>G	c.(1693-1695)tAt>tGt	p.Y565C	SMG1_uc010bwb.3_Missense_Mutation_p.Y425C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	565	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TATTAACTTATAGGCAGTCTC	0.398000														227			4		0	0	0.014758	0	0
CELF6	60677	broad.mit.edu	37	15	72579635	72579635	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:72579635G>A	uc002aui.2	-	10	2196	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Non-coding_Transcript|CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc010ukl.1_Missense_Mutation_p.R336W|CELF6_uc010biw.2_Missense_Mutation_p.R360W|CELF6_uc002auh.2_Missense_Mutation_p.R473W|CELF6_uc010ukm.1_Missense_Mutation_p.R446W|CELF6_uc002auj.2_Missense_Mutation_p.R360W	NM_001172685	NP_001166156	Q96J87	CELF6_HUMAN	Homo sapiens CUGBP, Elav-like family member 6 (CELF6), transcript variant 3, mRNA.	473					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCCTTGGGCCGCTTTAGCTGG	0.517000														301			75		0	0	0.014410	0	0
ZNF845	91664	broad.mit.edu	37	19	53855196	53855196	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:53855196T>C	uc010ydv.1	+	3	1385	c.1268T>C	c.(1267-1269)aTg>aCg	p.M423T	ZNF845_uc010ydw.1_Missense_Mutation_p.M423T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGATGTCATCCCTT	0.408000														771			9		0	0	0.010729	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811329	7811329	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:7811329delA	uc001aoi.3	+	19	4967	c.4760delA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_uc001aok.4_Frame_Shift_Del_p.Q630fs|CAMTA1_uc001aoj.3_Frame_Shift_Del_p.Q550fs|CAMTA1_uc009vmf.3_Frame_Shift_Del_p.Q177fs	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma								---	1100	---	---	9	---					
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:7838212_7838214delTCA	uc001aol.3	+	3	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	94					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													---	1188	---	---	9	---					
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:12785492_12785493insT	uc009vnn.1	+	3	815_816	c.582_583insT	c.(580-585)tactgtfs	p.Y194fs	AADACL3_uc001aug.1_Frame_Shift_Ins_p.Y124fs	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	194							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455													---	949	---	---	11	---					
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:39799059_39799060insG	uc021olw.1	+	0	2119_2120	c.2119_2120insG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													---	561	---	---	8	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:40713708_40713709delTC	uc001cfe.2	+	0	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													---	979	---	---	9	---					
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:85736511delT	uc021opd.1	-	1	688	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921	NP_003912	O95999	BCL10_HUMAN	Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA.	46	CARD.				T cell receptor signaling pathway|apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.I46fs*4(2)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT								---	469	---	---	9	---					
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:114968116_114968118delTGT	uc001eew.3	-	8	1732_1734	c.1648_1650delACA	c.(1648-1650)acadel	p.T550del	TRIM33_uc010owr.2_In_Frame_Del_p.T140del|TRIM33_uc010ows.2_In_Frame_Del_p.T158del|TRIM33_uc001eex.3_In_Frame_Del_p.T550del	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	550	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid								---	1590	---	---	14	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:145415369_145415371delGAG	uc001eni.2	+	2	513_515	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_uc001enk.2_5'UTR|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718).	axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626													---	509	---	---	11	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:161254154_161254156delGGA	uc001gad.3	+	2	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	35								p.E35delE(2)|p.A30A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488													---	623	---	---	10	---					
PAPPA2	60676	broad.mit.edu	37	1	176762724	176762724	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:176762724delC	uc001gkz.3	+	19	6213	c.5049delC	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGTGTAATCCCCCCCAGTG	0.468													---	768	---	---	7	---					
AXDND1	126859	broad.mit.edu	37	1	179337955	179337955	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:179337955delA	uc001gmo.3	+	2	505	c.118delA	c.(118-120)aaafs	p.K40fs	AXDND1_uc001gmn.2_Intron|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_5'UTR	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	40										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCTAAAGGAGAAAAAAAATAT	0.378													---	355	---	---	7	---					
PRG4	10216	broad.mit.edu	37	1	186276524	186276526	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:186276524_186276526delAGG	uc001gru.4	+	6	1724_1726	c.1673_1675delAGG	c.(1672-1677)aaggag>aag	p.E559del	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.E518del|PRG4_uc009wyl.3_In_Frame_Del_p.E466del|PRG4_uc009wym.3_In_Frame_Del_p.E425del|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	559	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCACCACCAAGGAGCCTGCACC	0.635													---	498	---	---	7	---					
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:209974763_209974764insG	uc001hhq.2	-	3	302	c.-2_splice	c.e3-1		IRF6_uc010psm.2_Intron	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGCCATGATCTGGGGGGGTCAG	0.594										HNSCC(57;0.16)			---	499	---	---	7	---					
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:212115191_212115193delTGC	uc001hiw.2	-	19	3085_3087	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_uc001hix.2_In_Frame_Del_p.830_831QQ>Q|INTS7_uc009xdb.2_In_Frame_Del_p.934_935QQ>Q|INTS7_uc001hiy.2_In_Frame_Del_p.940_941QQ>Q|INTS7_uc010pta.2_In_Frame_Del_p.905_906QQ>Q	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	954	Gln-rich.				snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443													---	1059	---	---	7	---					
FAM82A1	151393	broad.mit.edu	37	2	38178783	38178783	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:38178783delT	uc002rqn.2	+	1	551	c.425delT	c.(424-426)attfs	p.I142fs	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AAGAGTGCCATTTTTTTTGAT	0.333													---	368	---	---	9	---					
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:64778672_64778674delGAT	uc002sdc.3	+	0	96_98	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_uc002scz.3_In_Frame_Del_p.D26del|AFTPH_uc002sda.3_In_Frame_Del_p.D26del|AFTPH_uc002sdb.3_In_Frame_Del_p.D26del	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													---	954	---	---	9	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:73315337_73315339delTGG	uc002siu.4	-	2	1648_1650	c.1407_1409delCCA	c.(1405-1410)caccaa>caa	p.H469del	RAB11FIP5_uc002sit.4_In_Frame_Del_p.H391del	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	469					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635													---	953	---	---	9	---					
RGPD1	400966	broad.mit.edu	37	2	87211874	87211875	+	Splice_Site	INS	-	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:87211874_87211875insC	uc010fgv.3	+	19	2620	c.2582_splice	c.e19-2	p.V861_splice	RMND5A_uc002srs.4_Intron|RGPD1_uc021vkh.1_Splice_Site_p.V853_splice|RGPD1_uc002ssc.3_Splice_Site_p.V118_splice	NM_001078170	NP_001071638	Q68DN6	RGPD1_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 2 (RGPD2), mRNA.	853					intracellular transport		binding			breast(1)|endometrium(1)|lung(1)	3						tttttttttttAGTTGCAACTA	0.327													---	265	---	---	15	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:103149137delA	uc002tbz.4	+	11	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													---	197	---	---	8	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:113416607_113416608delAG	uc002tib.3	+	6	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.P328fs	SLC20A1_uc002tic.1_Frame_Shift_Del_p.P140fs	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													---	470	---	---	9	---					
ERCC3	2071	broad.mit.edu	37	2	128046944	128046946	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:128046944_128046946delTCT	uc002toh.1	-	5	884_886	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_uc002toe.1_In_Frame_Del_p.18_19EE>E|ERCC3_uc002tof.1_In_Frame_Del_p.199_200EE>E|ERCC3_uc002tog.1_In_Frame_Del_p.199_200EE>E|ERCC3_uc010flx.1_In_Frame_Del_p.18_19EE>E|ERCC3_uc010yzh.1_Non-coding_Transcript	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	263	Asp/Glu-rich (acidic).				DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				---	342	---	---	7	---					
NEB	4703	broad.mit.edu	37	2	152550847	152550847	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:152550847delT	uc021vrb.1	-	17	1915	c.1886delA	c.(1885-1887)aacfs	p.N629fs	NEB_uc002txu.3_Frame_Shift_Del_p.N629fs|NEB_uc021vrc.1_Frame_Shift_Del_p.N629fs|NEB_uc010fnx.3_Frame_Shift_Del_p.N629fs|NEB_uc021vrd.1_Frame_Shift_Del_p.N629fs|NEB_uc010fny.2_Frame_Shift_Del_p.N183fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	629					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCACTCTGGTTTTTGGCCAC	0.403													---	1119	---	---	8	---					
FKBP7	51661	broad.mit.edu	37	2	179343217	179343217	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:179343217delT	uc002umk.3	-	0	139	c.10delA	c.(10-12)accfs	p.T4fs	MIR548N_uc021vsx.1_Intron|FKBP7_uc002umm.3_Frame_Shift_Del_p.T4fs|FKBP7_uc002uml.3_Non-coding_Transcript|FKBP7_uc010zff.2_5'UTR|PLEKHA3_uc002umn.3_5'Flank	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	Homo sapiens FK506 binding protein 7 (FKBP7), transcript variant 1, mRNA.	4					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AAATGCATGGTTTTTGGCATC	0.522													---	1188	---	---	12	---					
CERKL	375298	broad.mit.edu	37	2	182403897	182403899	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:182403897_182403899delTCC	uc002unx.3	-	12	1637_1639	c.1536_1538delGGA	c.(1534-1539)gaggat>gat	p.E512del	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_In_Frame_Del_p.E486del|CERKL_uc010zfm.2_In_Frame_Del_p.E468del|CERKL_uc002unz.3_In_Frame_Del_p.E234del|CERKL_uc002uoa.3_In_Frame_Del_p.E417del|CERKL_uc002uob.3_In_Frame_Del_p.E234del|CERKL_uc002uoc.3_In_Frame_Del_p.E373del|CERKL_uc021vth.1_In_Frame_Del_p.E281del|CERKL_uc021vti.1_In_Frame_Del_p.E234del|CERKL_uc021vtj.1_In_Frame_Del_p.E189del|CERKL_uc021vtk.1_In_Frame_Del_p.E234del|CERKL_uc021vtl.1_In_Frame_Del_p.E189del|CERKL_uc021vtm.1_In_Frame_Del_p.E281del|CERKL_uc002uod.2_In_Frame_Del_p.E281del|CERKL_uc002unw.3_In_Frame_Del_p.E82del	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	512					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AGCAGTTTCATCCTCCTCCTCCT	0.369													---	791	---	---	7	---					
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	-	-	rs140194798		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:196788374delT	uc002utj.4	-	22	3871	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1257	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418													---	442	---	---	18	---					
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:197649613_197649614insT	uc002uts.3	-	7	1238_1239	c.1081_1082insA	c.(1081-1083)actfs	p.T361fs	GTF3C3_uc010zgu.2_Frame_Shift_Ins_p.T361fs|GTF3C3_uc002utu.3_Frame_Shift_Ins_p.T361fs|GTF3C3_uc002utt.4_Frame_Shift_Ins_p.T36fs	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	361						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337													---	298	---	---	8	---					
ALPI	248	broad.mit.edu	37	2	233320926	233320928	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:233320926_233320928delTGC	uc002vst.4	+	0	94_96	c.17_19delTGC	c.(16-21)gtgctg>gtg	p.L10del	ALPI_uc002vsu.4_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	10					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGGCCCTGGGTGCTGCTGCTGCT	0.660													---	240	---	---	8	---					
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:12790198_12790200delGAG	uc011auv.1	-	2	380_382	c.213_215delCTC	c.(211-216)tcctct>tct	p.71_72SS>S	TMEM40_uc003bxg.1_In_Frame_Del_p.55_56SS>S|TMEM40_uc003bxh.1_In_Frame_Del_p.55_56SS>S	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	55	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419													---	871	---	---	7	---					
HHATL	57467	broad.mit.edu	37	3	42739670	42739672	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:42739670_42739672delGAA	uc003clw.3	-	6	802_804	c.655_657delTTC	c.(655-657)ttcdel	p.F219del	HHATL_uc003clx.3_In_Frame_Del_p.F219del	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	219					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGATGGGCCCGAAGAAGAAGAAG	0.552													---	498	---	---	8	---					
DNAH12	201625	broad.mit.edu	37	3	57509313	57509313	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:57509313delT	uc003dit.2	-	3	457	c.276delA	c.(274-276)aaafs	p.K92fs	DNAH12_uc003diu.2_Frame_Shift_Del_p.K92fs	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	92	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G93fs*7(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACTCACTCCTTTTTTTTTCA	0.254													---	216	---	---	14	---					
DPPA4	55211	broad.mit.edu	37	3	109049606	109049606	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:109049606delT	uc003dxq.4	-	4	499	c.444delA	c.(442-444)aaafs	p.K148fs	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Frame_Shift_Del_p.K148fs	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	148						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCACCTTTAATTTTTTTTGCA	0.413													---	668	---	---	8	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:129370576_129370578delCTG	uc021xdy.1	-	5	2142_2144	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_uc003emy.4_In_Frame_Del_p.Q246del|TMCC1_uc011blc.2_In_Frame_Del_p.Q391del|TMCC1_uc010htg.3_In_Frame_Del_p.Q456del	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													---	652	---	---	20	---					
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:186362544delA	uc010hyq.3	+	4	690	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_uc011brz.2_5'UTR|FETUB_uc003fqn.3_Frame_Shift_Del_p.S143fs|FETUB_uc010hyr.3_Frame_Shift_Del_p.S106fs|FETUB_uc010hys.3_5'UTR|FETUB_uc003fqp.4_Frame_Shift_Del_p.S78fs	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418													---	723	---	---	17	---					
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:194181471_194181473delGAG	uc003fty.4	-	2	541_543	c.139_141delCTC	c.(139-141)ctcdel	p.L47del		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	47					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463													---	880	---	---	8	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:46060358delA	uc003gxb.3	-	6	944	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													---	472	---	---	12	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:71554620_71554622delGAG	uc003hfo.3	+	0	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													---	265	---	---	10	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:89618431_89618433delCCT	uc003hrx.3	-	0	591_593	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													---	584	---	---	10	---					
C4orf17	84103	broad.mit.edu	37	4	100443782	100443782	+	Frame_Shift_Del	DEL	T	-	-	rs13119384	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:100443782delT	uc003huw.3	+	2	615	c.253delT	c.(253-255)tccfs	p.S85fs	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	85			S -> P (in dbSNP:rs13119384).							central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CAGTTACCCCTCCAGCACTGC	0.498													---	447	---	---	26	---					
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:110756541delT	uc003hzv.3	+	2	351	c.317delT	c.(316-318)attfs	p.I106fs		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	106					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393													---	461	---	---	11	---					
ANP32C	23520	broad.mit.edu	37	4	165118286	165118288	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:165118286_165118288delTCC	uc011cjk.2	-	0	576_578	c.576_578delGGA	c.(574-579)gaggaa>gaa	p.192_193EE>E	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	192	Asp/Glu-rich (highly acidic).							p.E192E(2)|p.E192*(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ctcttcaccttcctcctcctcct	0.547													---	103	---	---	8	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:6755013_6755014delAC	uc003jdx.1	+	12	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.K528fs	PAPD7_uc011cmn.2_Frame_Shift_Del_p.K527fs|PAPD7_uc010itl.1_Frame_Shift_Del_p.K348fs	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	528					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													---	280	---	---	8	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:16694605_16694606insC	uc003jft.4	-	26	4142_4143	c.3674_3675insG	c.(3673-3675)ggcfs	p.G1225fs	MYO10_uc011cnc.2_Frame_Shift_Ins_p.G104fs|MYO10_uc011cnd.2_Frame_Shift_Ins_p.G582fs|MYO10_uc011cne.2_Frame_Shift_Ins_p.G582fs|MYO10_uc010itx.3_Frame_Shift_Ins_p.G848fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1225	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													---	559	---	---	8	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:24492973delA	uc003jgr.2	-	9	2083	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F525V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			---	1272	---	---	10	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:44388715_44388717delAGC	uc003jog.1	-	0	68_70	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	23					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													---	421	---	---	8	---					
ANKRD55	79722	broad.mit.edu	37	5	55466557	55466558	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:55466557_55466558insG	uc003jqu.3	-	4	537_538	c.385_386insC	c.(385-387)ctgfs	p.L129fs		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	128								p.R128H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATGCAGTGGCAGGCGGCCATTT	0.490													---	816	---	---	9	---					
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:140032593_140032594delGA	uc003lgq.3	+	4	378_379	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_uc011czk.1_Frame_Shift_Del_p.E90fs|IK_uc021yen.1_Frame_Shift_Del_p.E31fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.460													---	289	---	---	12	---					
CSF1R	1436	broad.mit.edu	37	5	149447806	149447808	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:149447806_149447808delAGC	uc003lrl.3	-	9	1791_1793	c.1596_1598delGCT	c.(1594-1599)ctgctc>ctc	p.532_533LL>L	CSF1R_uc011dcd.2_In_Frame_Del_p.384_385LL>L|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_In_Frame_Del_p.532_533LL>L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	532					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	Tagcagcaggagcagcagcagca	0.596													---	501	---	---	7	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:179149920delT	uc011dgp.2	+	10	1478	c.1403delT	c.(1402-1404)attfs	p.I468fs	CANX_uc003mkk.3_Frame_Shift_Del_p.I433fs|CANX_uc003mkl.3_Frame_Shift_Del_p.I433fs|CANX_uc011dgq.2_Frame_Shift_Del_p.I325fs	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	433					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCTGACATTTTTTTTGAC	0.423													---	499	---	---	8	---					
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	-	-	rs2274212	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:7393450_7393452delGAC	uc003mxn.3	+	1	364_366	c.190_192delGAC	c.(190-192)gacdel	p.D69del	RIOK1_uc003mxm.1_5'UTR	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	69							ATP binding|protein serine/threonine kinase activity	p.V69A(1)|p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													---	432	---	---	7	---					
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:26384091_26384093delCCT	uc003nht.3	+	1	175_177	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_uc003nhs.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkf.2_In_Frame_Del_p.L24del|BTN2A2_uc003nhq.3_In_Frame_Del_p.L24del|BTN2A2_uc003nhr.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkh.2_In_Frame_Del_p.L24del|BTN2A2_uc011dkg.2_In_Frame_Del_p.L24del	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	24					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581													---	550	---	---	15	---					
GPX5	2880	broad.mit.edu	37	6	28493824	28493824	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:28493824delC	uc003nll.2	+	0	36	c.34delC	c.(34-36)cccfs	p.P12fs	GPX5_uc003nlm.2_Frame_Shift_Del_p.P12fs|GPX5_uc003nln.2_5'Flank	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	12					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCATCTGCTTCCCCTTCTCCT	0.498													---	1033	---	---	185	---					
TRIM26	7726	broad.mit.edu	37	6	30157254	30157254	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:30157254delT	uc003npr.3	-	6	1054	c.845delA	c.(844-846)aagfs	p.K282fs	TRIM26_uc003nps.3_Frame_Shift_Del_p.K282fs|TRIM26_uc003npt.3_Frame_Shift_Del_p.K282fs|TRIM26_uc010jry.3_5'UTR	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	282							DNA binding|zinc ion binding	p.K282fs*16(1)		lung(1)|ovary(2)	3						TTCTCCGGTCTTTTTTTTAAC	0.483													---	513	---	---	8	---					
HLA-DRB5	3127	broad.mit.edu	37	6	32549374	32549393	+	Frame_Shift_Del	DEL	CACTTGGCAGGTGTAAACCT	-	-	rs34938122		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:32549374_32549393delCACTTGGCAGGTGTAAACCT	uc003obp.4	-	2	687_706	c.593_612delAGGTTTACACCTGCCAAGTG	c.(592-612)gaggtttacacctgccaagtgfs	p.E198fs	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_Frame_Shift_Del_p.E28fs|HLA-DRB5_uc011dqc.1_Frame_Shift_Del_p.E28fs	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	198	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TTGGGTGCTCCACTTGGCAGGTGTAAACCTCTCCACTTCG	0.536													---	865	---	---	7	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:41168714_41168716delCAG	uc010jxm.1	-	0	210_212	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													---	238	---	---	14	---					
GRM1	2911	broad.mit.edu	37	6	146755219	146755221	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:146755219_146755221delGAG	uc010khw.1	+	8	3342_3344	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E961del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	961					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTACAACGTAGAGGAGGAGGAGG	0.586													---	755	---	---	7	---					
MAP3K4	4216	broad.mit.edu	37	6	161469776	161469776	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:161469776delA	uc003qtn.3	+	2	614	c.472delA	c.(472-474)aaafs	p.K158fs	MAP3K4_uc010kkc.1_Frame_Shift_Del_p.K158fs|MAP3K4_uc003qto.3_Frame_Shift_Del_p.K158fs|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	158					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.N160fs*8(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGTGATCGTAAAAAAAATGT	0.403													---	588	---	---	13	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	T	T	rs34551853		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:6621848_6621849insT	uc003sqi.3	+	5	694_695	c.336_337insT	c.(334-339)ctgtttfs	p.L112fs	ZDHHC4_uc003sql.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.3_Frame_Shift_Ins_p.L112fs	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	112						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450													---	1189	---	---	8	---					
RPA3	6119	broad.mit.edu	37	7	7679952	7679952	+	Splice_Site	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:7679952delT	uc003sri.3	-	5	1271	c.99_splice	c.e5+1	p.K33_splice	LOC729852_uc011jxf.2_5'Flank	NM_002947	NP_002938	P35244	RFA3_HUMAN	Homo sapiens replication protein A3, 14kDa (RPA3), mRNA.	33					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|cytoplasm|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		CCCGCACACCTTTTCCAGCCT	0.577								Direct reversal of damage;Nucleotide excision repair (NER)					---	883	---	---	8	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:91671392_91671393delAG	uc003ulg.3	+	18	5175_5176	c.4950_4951delAG	c.(4948-4953)tcagagfs	p.S1650fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.S1650fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.S1275fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								---	318	---	---	9	---					
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:91752494delT	uc003ulm.4	-	6	1188	c.1026delA	c.(1024-1026)aaafs	p.K342fs	CYP51A1_uc011khn.2_Frame_Shift_Del_p.K237fs|CYP51A1_uc003uln.4_Frame_Shift_Del_p.K279fs	NM_000786	NP_001139624	Q16850	CP51A_HUMAN	Homo sapiens cytochrome P450, family 51, subfamily A, polypeptide 1 (CYP51A1), transcript variant 1, mRNA.	336					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTAAATAACATTTTTTTTGAA	0.398													---	829	---	---	10	---					
JHDM1D	80853	broad.mit.edu	37	7	139790972	139790972	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:139790972delT	uc003vvm.3	-	19	2752	c.2748delA	c.(2746-2748)aaafs	p.K916fs	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	916					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTGCCATTCCTTTTTTTGGAC	0.428													---	474	---	---	7	---					
PRSS1	5644	broad.mit.edu	37	7	142460792	142460794	+	In_Frame_Del	DEL	AGA	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:142460792_142460794delAGA	uc003wak.2	+	4	682_684	c.665_667delAGA	c.(664-669)cagaag>cag	p.K223del	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_In_Frame_Del_p.K163del	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	223	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGCTGTGCCCAGAAGAACAAGCC	0.507													---	495	---	---	75	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:22020159_22020161delGTG	uc003xaw.4	+	4	965_967	c.262_264delGTG	c.(262-264)gtgdel	p.V93del	SFTPC_uc003xax.4_In_Frame_Del_p.V44del|SFTPC_uc003xay.4_In_Frame_Del_p.V44del|SFTPC_uc003xaz.3_In_Frame_Del_p.V44del|SFTPC_uc011kza.1_In_Frame_Del_p.V44del|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													---	737	---	---	11	---					
C8orf80	389643	broad.mit.edu	37	8	27888776	27888776	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:27888776delT	uc003xgm.4	-	14	2035	c.1892delA	c.(1891-1893)aatfs	p.N631fs		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	631						nucleus	GTP binding|GTPase activity	p.N631H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GATCAGGAAATTTTTTTTGCA	0.453													---	939	---	---	12	---					
PXDNL	137902	broad.mit.edu	37	8	52359596	52359596	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:52359596delT	uc003xqu.4	-	11	1594	c.1493delA	c.(1492-1494)aagfs	p.K498fs		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448													---	1642	---	---	8	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:70514026delT	uc003xyg.2	+	8	1584	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_uc010lza.1_Frame_Shift_Del_p.P341fs|SULF1_uc003xyd.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xye.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													---	1789	---	---	14	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:95952409_95952411delTCT	uc003yhg.3	-	2	534_536	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_uc003yhh.3_In_Frame_Del_p.50_51EE>E	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	50	Glu-rich.				apoptosis	PML body		p.E50E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													---	426	---	---	9	---					
ANXA13	312	broad.mit.edu	37	8	124707762	124707762	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:124707762delT	uc003yqt.3	-	6	647	c.574delA	c.(574-576)atcfs	p.I192fs	ANXA13_uc003yqu.3_Frame_Shift_Del_p.I151fs	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA.	151					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GACACCAGGATTTTTTTTAGG	0.413													---	1394	---	---	11	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	-	-	rs61752959	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:128750605_128750607delCAG	uc022bbe.1	+	1	667_669	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_uc003ysh.1_In_Frame_Del_p.Q37del|MYC_uc003ysi.3_In_Frame_Del_p.Q52del			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	37	Poly-Gln.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	561	---	---	12	---					
EIF2C2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	-	-	rs148575703	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:141554345delG	uc003yvn.3	-	13	1847	c.1806delC	c.(1804-1806)cccfs	p.P602fs	EIF2C2_uc010meo.3_Frame_Shift_Del_p.P602fs|EIF2C2_uc010men.3_Frame_Shift_Del_p.P525fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	602	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CATCCCCGGCGGGGGGGTGAG	0.647													---	1414	---	---	7	---					
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	-	-	rs142964918		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:143310866_143310868delGAT	uc003ywj.3	-	11	1561_1563	c.1522_1524delATC	c.(1522-1524)atcdel	p.I508del	TSNARE1_uc011lju.2_In_Frame_Del_p.I506del|TSNARE1_uc003ywk.3_In_Frame_Del_p.I507del	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	507					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512													---	760	---	---	15	---					
SCRIB	23513	broad.mit.edu	37	8	144890900	144890902	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144890900_144890902delTCC	uc003yzp.1	-	14	1999_2001	c.1992_1994delGGA	c.(1990-1995)gaggaa>gaa	p.664_665EE>E	SCRIB_uc003yzo.1_In_Frame_Del_p.664_665EE>E	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	664	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			actaccctcttcctcctcctcct	0.665													---	277	---	---	7	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:732475_732477delGAG	uc003zgl.1	+	9	3752_3754	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_uc003zgm.3_3'UTR|KANK1_uc003zgn.1_In_Frame_Del_p.E1039del|KANK1_uc003zgs.1_In_Frame_Del_p.E881del|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1039					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463													---	875	---	---	18	---					
MLLT3	4300	broad.mit.edu	37	9	20414278	20414280	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:20414278_20414280delCTG	uc003zoe.2	-	4	823_825	c.564_566delCAG	c.(562-567)agcagt>agt	p.188_189SS>S	MLLT3_uc011lne.1_In_Frame_Del_p.156_157SS>S|MLLT3_uc011lnf.1_In_Frame_Del_p.185_186SS>S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(2)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACTGGTActactgctgctgctgc	0.507			T	MLL	ALL								---	641	---	---	11	---					
HNRNPK	3190	broad.mit.edu	37	9	86586806	86586808	+	In_Frame_Del	DEL	GGT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:86586806_86586808delGGT	uc004ang.4	-	10	1166_1168	c.942_944delACC	c.(940-945)ccacct>cct	p.314_315PP>P	HNRNPK_uc011lsw.2_In_Frame_Del_p.74_75PP>P|HNRNPK_uc004and.4_In_Frame_Del_p.74_75PP>P|HNRNPK_uc004anf.4_In_Frame_Del_p.314_315PP>P|HNRNPK_uc004anh.4_In_Frame_Del_p.290_291PP>P|HNRNPK_uc011lsx.2_In_Frame_Del_p.290_291PP>P|HNRNPK_uc004anl.4_In_Frame_Del_p.314_315PP>P|HNRNPK_uc004anm.4_In_Frame_Del_p.314_315PP>P|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	314	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCCCTCTAGGTGGTGGTGGTG	0.522													---	609	---	---	8	---					
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:94486026_94486028delTCC	uc004arj.2	-	8	2947_2949	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	916					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645													---	659	---	---	7	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:119976989_119976991delCAG	uc004bjt.2	-	2	762_764	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													---	295	---	---	13	---					
SETX	23064	broad.mit.edu	37	9	135203911	135203913	+	In_Frame_Del	DEL	TCA	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:135203911_135203913delTCA	uc004cbk.3	-	9	3255_3257	c.3072_3074delTGA	c.(3070-3075)gatgaa>gaa	p.D1024del	SETX_uc004cbj.3_In_Frame_Del_p.D643del|SETX_uc010mzt.3_In_Frame_Del_p.D643del	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1024					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAGGATTCTTTCATCATCATCAT	0.369													---	707	---	---	7	---					
C9orf69	90120	broad.mit.edu	37	9	139008444	139008446	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:139008444_139008446delCAG	uc004cgx.4	-	1	826_828	c.375_377delCTG	c.(373-378)tgctgg>tgg	p.C125del	C9orf69_uc004cgy.2_Non-coding_Transcript	NM_152833	NP_690046			Homo sapiens chromosome 9 open reading frame 69 (C9orf69), mRNA.											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCGGCGGCCCAGCAGCAGCAGC	0.685													---	128	---	---	8	---					
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:140087025_140087027delTCC	uc004clt.3	-	1	1842_1844	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_uc004clu.3_In_Frame_Del_p.614_615EE>E	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	614	Glu-rich.				sensory perception of sound	stereocilium		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596													---	118	---	---	7	---					
ABI1	10006	broad.mit.edu	37	10	27040624	27040626	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:27040624_27040626delTGG	uc001isx.3	-	10	1476_1478	c.1252_1254delCCA	c.(1252-1254)ccadel	p.P418del	ABI1_uc001itb.3_In_Frame_Del_p.P406del|ABI1_uc001ite.3_In_Frame_Del_p.P356del|ABI1_uc010qdh.2_In_Frame_Del_p.P298del|ABI1_uc010qdi.2_In_Frame_Del_p.P239del|ABI1_uc001itc.3_In_Frame_Del_p.P390del|ABI1_uc001isy.3_In_Frame_Del_p.P391del|ABI1_uc001itd.3_In_Frame_Del_p.P361del|ABI1_uc010qdj.2_In_Frame_Del_p.P332del|ABI1_uc001ita.3_In_Frame_Del_p.P362del|ABI1_uc010qdk.2_In_Frame_Del_p.P303del|ABI1_uc001isz.3_In_Frame_Del_p.P386del|ABI1_uc010qdg.2_In_Frame_Del_p.P228del	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	418	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATAATCCACTGGTGGTGGTGGT	0.478													---	302	---	---	7	---					
KCNMA1	3778	broad.mit.edu	37	10	78771791	78771791	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:78771791delA	uc001jxn.3	-	17	2203	c.2026delT	c.(2026-2028)tacfs	p.Y676fs	KCNMA1_uc021ptu.1_Frame_Shift_Del_p.Y626fs|KCNMA1_uc001jxj.2_Frame_Shift_Del_p.Y680fs|KCNMA1_uc001jxk.1_Frame_Shift_Del_p.Y291fs|KCNMA1_uc009xrt.1_Frame_Shift_Del_p.Y496fs|KCNMA1_uc001jxl.1_Frame_Shift_Del_p.Y330fs|KCNMA1_uc001jxo.3_Frame_Shift_Del_p.Y676fs|KCNMA1_uc001jxm.3_Frame_Shift_Del_p.Y676fs|KCNMA1_uc001jxq.3_Frame_Shift_Del_p.Y676fs	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	676					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCCTTGCAGTAAAAAAATGCC	0.428													---	442	---	---	7	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:102107836_102107838delACC	uc001kqy.3	+	1	533_535	c.43_45delACC	c.(43-45)accdel	p.T19del		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	19					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581													---	885	---	---	17	---					
NOLC1	9221	broad.mit.edu	37	10	103917043	103917045	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:103917043_103917045delGAG	uc001kup.2	+	2	509_511	c.274_276delGAG	c.(274-276)gagdel	p.E96del	NOLC1_uc001kuo.2_In_Frame_Del_p.E96del|NOLC1_uc001kuq.2_In_Frame_Del_p.E97del|NOLC1_uc009xxb.1_Intron|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	96	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.E96delE(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGACAGCAGCGAGGAGGAGGAGG	0.537													---	277	---	---	7	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:103919000_103919002delAGC	uc001kup.2	+	5	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_uc001kuo.2_In_Frame_Del_p.S227del|NOLC1_uc001kuq.2_In_Frame_Del_p.S228del|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.S226N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													---	830	---	---	9	---					
AFAP1L2	84632	broad.mit.edu	37	10	116062107	116062107	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:116062107delT	uc001lbn.3	-	11	1722	c.1421delA	c.(1420-1422)aacfs	p.N474fs	AFAP1L2_uc001lbo.3_Frame_Shift_Del_p.N474fs|AFAP1L2_uc010qse.2_Frame_Shift_Del_p.N527fs|AFAP1L2_uc001lbp.3_Frame_Shift_Del_p.N502fs|AFAP1L2_uc001lbr.1_Frame_Shift_Del_p.N474fs|AFAP1L2_uc001lbm.3_5'Flank|AFAP1L2_uc010qsd.2_Frame_Shift_Del_p.N40fs|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	474					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAAGAGAGAGTTTTTGGCCGC	0.547													---	1287	---	---	7	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:125528165_125528167delCAG	uc001lhk.1	-	8	1499_1501	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													---	1028	---	---	15	---					
MKI67	4288	broad.mit.edu	37	10	129913974	129913974	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:129913974delT	uc001lke.3	-	6	893	c.698delA	c.(697-699)aatfs	p.N233fs	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	233					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGAGATTCATTTTTTTTGCT	0.343													---	317	---	---	10	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:281553_281555delGAG	uc010qvs.2	+	3	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_uc010qvt.2_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													---	796	---	---	21	---					
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	-	-	rs61867552	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:864443_864445delCTG	uc001lsd.1	+	4	471_473	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_uc001lse.1_In_Frame_Del_p.L28del|TSPAN4_uc001lsf.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsg.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsh.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsi.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsj.1_In_Frame_Del_p.L92del	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													---	786	---	---	18	---					
CCDC73	493860	broad.mit.edu	37	11	32635951	32635951	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:32635951delT	uc001mtv.3	-	15	1957	c.1913delA	c.(1912-1914)aatfs	p.N638fs		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	638								p.N638fs*18(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGGAACAGGATTTTTTTTTAT	0.313													---	220	---	---	11	---					
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:35513670delC	uc001mwf.3	-	2	345	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517													---	1458	---	---	7	---					
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:47359101_47359103delTCT	uc021qis.1	-	24	2496_2498	c.2441_2443delAGA	c.(2440-2445)aagagc>agc	p.K814del	MYBPC3_uc021qir.1_In_Frame_Del_p.K466del|MYBPC3_uc010rhl.2_Intron	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	813	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601													---	417	---	---	7	---					
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Frame_Shift_Del	DEL	T	-	-	rs112181516		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:55861308delT	uc010rix.2	+	0	525	c.525delT	c.(523-525)catfs	p.H175fs		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C178fs*2(1)|p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443													---	1011	---	---	10	---					
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:61607885_61607887delTCC	uc001nsl.1	+	2	548_550	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_uc001nsj.2_In_Frame_Del_p.L115del|FADS2_uc010rlo.1_In_Frame_Del_p.L106del|FADS2_uc001nsk.3_In_Frame_Del_p.L137del	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	137				LLLL -> RTRG (in Ref. 8; CAB43280).	electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537													---	1208	---	---	11	---					
CDC42BPG	55561	broad.mit.edu	37	11	64606354	64606355	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:64606354_64606355insG	uc001obs.4	-	7	896_897	c.896_897insC	c.(895-897)ccgfs	p.P299fs		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	299	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CAGGCACGTCCGGGGGGAACTG	0.668													---	295	---	---	7	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:119149356_119149358delATG	uc001pwe.3	+	8	1502_1504	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	460	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(2)|p.D460del(1)|p.K322_D460del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				---	417	---	---	12	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	A	A	rs35817404		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:125505377_125505378insA	uc009zbo.3	+	6	1564_1565	c.667_668insA	c.(667-669)gaafs	p.E223fs	CHEK1_uc010sbi.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc010sbh.2_Frame_Shift_Ins_p.E239fs|CHEK1_uc001qcf.4_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbp.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcg.4_Frame_Shift_Ins_p.E223fs	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					---	806	---	---	30	---					
PLCZ1	89869	broad.mit.edu	37	12	18841025	18841025	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:18841025delT	uc021qvx.1	-	12	1780	c.1589delA	c.(1588-1590)aatfs	p.N530fs	PLCZ1_uc001rdv.4_Frame_Shift_Del_p.N426fs|PLCZ1_uc001rdw.4_Frame_Shift_Del_p.N271fs|PLCZ1_uc001rdu.1_Frame_Shift_Del_p.N312fs|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	530	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAGCTCACCATTTTTTTTAAT	0.294													---	538	---	---	8	---					
ESPL1	9700	broad.mit.edu	37	12	53683876	53683877	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:53683876_53683877delTG	uc001sck.2	+	22	5212_5213	c.5121_5122delTG	c.(5119-5124)actgtgfs	p.T1707fs	ESPL1_uc001scj.2_Frame_Shift_Del_p.T1382fs	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1707					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAGGGGTGACTGTGTGTGTGTT	0.569													---	299	---	---	7	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:55615114_55615116delCTT	uc010spf.2	+	0	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													---	929	---	---	8	---					
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:57605740_57605742delTGC	uc001snd.3	+	86	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttgctg>ttg	p.4430_4431LL>L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4430					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557													---	793	---	---	13	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:58025102_58025103insC	uc001spg.1	-	2	695_696	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													---	623	---	---	17	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:20041394delA	uc001umd.3	-	7	694	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													---	446	---	---	11	---					
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:27250862_27250863delGT	uc001uqv.3	+	7	941	c.716_splice	c.e7+1	p.R239_splice	WASF3_uc001uqw.3_Intron	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	239					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475													---	521	---	---	9	---					
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:28367927_28367929delGGC	uc001urr.1	+	1	685_687	c.637_639delGGC	c.(637-639)ggcdel	p.G218del		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Homo sapiens GS homeobox 1 (GSX1), mRNA.	218	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAACCATCgtggcggcggcggcg	0.631													---	346	---	---	12	---					
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:47243183_47243186delCCTG	uc001vbk.3	+	2	707_710	c.471_474delCCTG	c.(469-474)gccctgfs	p.A157fs	LRCH1_uc010acp.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbj.3_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbl.4_Frame_Shift_Del_p.A157fs	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436													---	1010	---	---	9	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:23341527_23341529delCCT	uc001whd.3	+	0	568_570	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_uc001whe.3_5'Flank	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	11					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													---	603	---	---	26	---					
CPNE6	9362	broad.mit.edu	37	14	24545608	24545608	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:24545608delC	uc010tnv.2	+	12	1409	c.1263delC	c.(1261-1263)atcfs	p.I421fs	CPNE6_uc001wlm.3_Frame_Shift_Del_p.I191fs|CPNE6_uc001wll.3_Frame_Shift_Del_p.I366fs|CPNE6_uc001wln.3_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	366	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGGCTCGAATCCCCCCCAACT	0.602													---	944	---	---	7	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:73572607_73572608delAG	uc010ttu.2	+	11	1471_1472	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_uc001xno.3_Frame_Shift_Del_p.R399fs|RBM25_uc001xnp.3_Frame_Shift_Del_p.R194fs	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													---	126	---	---	10	---					
C14orf43	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:74205926_74205928delCTG	uc010tud.1	-	0	1031_1033	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	C14orf43_uc001xot.3_In_Frame_Del_p.Q262del|C14orf43_uc001xou.3_In_Frame_Del_p.Q262del|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GTAGGgctgcctgctgctgctgc	0.650													---	147	---	---	9	---					
MLH3	27030	broad.mit.edu	37	14	75514337	75514338	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:75514337_75514338insT	uc001xrd.1	-	1	2237_2238	c.2021_2022insA	c.(2020-2022)aatfs	p.N674fs	MLH3_uc001xre.1_Frame_Shift_Ins_p.N674fs|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	674					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TCGTTCTGCAATTTTTTTTGTT	0.347								Mismatch excision repair (MMR)					---	462	---	---	10	---					
FLVCR2	55640	broad.mit.edu	37	14	76112753	76112755	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:76112753_76112755delGAG	uc001xrs.2	+	9	1895_1897	c.1519_1521delGAG	c.(1519-1521)gagdel	p.E511del	FLVCR2_uc010tvd.1_In_Frame_Del_p.E306del	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	511	Poly-Glu.				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAAACTCCAAGAGGAGGAGGAGG	0.542													---	371	---	---	7	---					
TCL6	27004	broad.mit.edu	37	14	96129003	96129005	+	Splice_Site	DEL	TAT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:96129003_96129005delTAT	uc001yep.1	+	5		c.1130_splice	c.e5+2		TCL6_uc021sbf.1_Intron|TCL6_uc021sbg.1_Splice_Site|TCL6_uc021sbh.1_5'Flank|TCL6_uc001yet.1_5'Flank|TCL6_uc001yeu.2_5'Flank|TCL6_uc001yev.2_5'Flank|TCL1B_uc021sbi.1_5'Flank|TCL1B_uc001yew.3_5'Flank|TCL1B_uc001yex.3_5'Flank|TCL1B_uc010avj.3_5'Flank					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		caaaagaaggtattattattatt	0.350			T	TRA@	T-ALL								---	502	---	---	7	---					
EML1	2009	broad.mit.edu	37	14	100367334	100367334	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:100367334delT	uc001ygr.3	+	9	1092	c.1023delT	c.(1021-1023)ggtfs	p.G341fs	EML1_uc010avt.1_Frame_Shift_Del_p.G309fs|EML1_uc010tww.2_Frame_Shift_Del_p.G310fs|EML1_uc001ygq.3_Frame_Shift_Del_p.G341fs|EML1_uc001ygs.3_Frame_Shift_Del_p.G322fs	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	322						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTGGAATAGGTTTTTTTGACC	0.428													---	909	---	---	8	---					
abParts	0	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:106725714_106725715insG	uc021ser.1	-	925		c.21900_21901insC								Parts of antibodies, mostly variable regions.																		ATCCCAGGGCTGGGCTCCTCTC	0.500													---	245	---	---	7	---					
MEIS2	4212	broad.mit.edu	37	15	37385874	37385874	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:37385874delT	uc001zjr.3	-	5	1621	c.547delA	c.(547-549)atgfs	p.M183fs	MEIS2_uc001zjl.3_Frame_Shift_Del_p.M170fs|MEIS2_uc010ucj.2_Frame_Shift_Del_p.M170fs|MEIS2_uc001zjm.3_Frame_Shift_Del_p.M95fs|MEIS2_uc001zjn.3_Frame_Shift_Del_p.M37fs|MEIS2_uc001zjo.3_Frame_Shift_Del_p.M183fs|MEIS2_uc001zjp.3_Frame_Shift_Del_p.M183fs|MEIS2_uc001zjs.3_Frame_Shift_Del_p.M183fs|MEIS2_uc001zju.3_Frame_Shift_Del_p.M170fs|MEIS2_uc001zjt.3_Frame_Shift_Del_p.M183fs	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	183					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCGATGGGCATTTTCCCCTTC	0.478													---	866	---	---	7	---					
ZFP106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:42742957delA	uc001zpw.3	-	1	1771	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Frame_Shift_Del_p.S265fs|ZFP106_uc001zpy.1_Frame_Shift_Del_p.S505fs	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	482						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TCTCCAGGGGAAAAAAAATTT	0.393													---	1115	---	---	7	---					
TTBK2	146057	broad.mit.edu	37	15	43038023	43038024	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:43038023_43038024insT	uc001zqo.2	-	14	4143_4144	c.3704_3705insA	c.(3703-3705)aagfs	p.K1235fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.K1166fs|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1235					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTGGCTTACTCTTCCCTTGGGG	0.535													---	944	---	---	11	---					
TTBK2	146057	broad.mit.edu	37	15	43038025	43038026	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:43038025_43038026insC	uc001zqo.2	-	14	4141_4142	c.3702_3703insG	c.(3700-3705)gggaagfs	p.G1234fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.G1165fs|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1234					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGCTTACTCTTCCCTTGGGGGG	0.540													---	953	---	---	16	---					
SPG11	80208	broad.mit.edu	37	15	44905698	44905698	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:44905698delT	uc001ztx.3	-	16	3106	c.3075delA	c.(3073-3075)aaafs	p.K1025fs	SPG11_uc010ueh.2_Frame_Shift_Del_p.K1025fs|SPG11_uc010uei.2_Frame_Shift_Del_p.K1025fs	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1025					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATGTAACTCTTTTTTTTCCA	0.328													---	264	---	---	11	---					
CGNL1	84952	broad.mit.edu	37	15	57744359	57744360	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:57744359_57744360delAG	uc010bfw.3	+	6	2119_2120	c.1926_1927delAG	c.(1924-1929)gaagagfs	p.E642fs	CGNL1_uc002aeg.3_Frame_Shift_Del_p.E642fs	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	642						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACATTAAAGAAGAGAGAGAGAG	0.441													---	291	---	---	7	---					
ZNF609	23060	broad.mit.edu	37	15	64972995	64972997	+	In_Frame_Del	DEL	CAC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:64972995_64972997delCAC	uc002ann.3	+	6	4096_4098	c.4096_4098delCAC	c.(4096-4098)cacdel	p.H1371del		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1371	Poly-His.					nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGTCCACACACCACCACCACC	0.591													---	873	---	---	10	---					
C16orf79	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:2260586_2260588delCAG	uc010bsh.3	-	1	350_352	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	C16orf79_uc002cpi.2_In_Frame_Del_p.L39del	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	39	Poly-Leu.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						CGGCcagcaccagcagcagcagc	0.660													---	205	---	---	8	---					
NPIP	9284	broad.mit.edu	37	16	15045758	15045759	+	Frame_Shift_Ins	INS	-	GT	GT			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:15045758_15045759insGT	uc002dcy.4	+	7	929_930	c.929_930insGT	c.(928-930)gagfs	p.E310fs	NPIP_uc002dcx.4_Non-coding_Transcript	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.	310	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											ACACCTCCCGAGTGTCTGCTCA	0.559													---	717	---	---	8	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:30736370_30736371insC	uc002dze.1	+	24	6010_6011	c.5625_5626insC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													---	1060	---	---	22	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	-	-	rs149029279		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:57486732_57486734delGAG	uc002elq.3	+	2	343_345	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_uc002elp.2_In_Frame_Del_p.E91del|COQ9_uc010vhn.2_In_Frame_Del_p.E91del|COQ9_uc010vho.2_In_Frame_Del_p.E91del|COQ9_uc010vhp.2_In_Frame_Del_p.E91del	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													---	961	---	---	12	---					
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:67763279_67763281delGAG	uc002eud.3	-	9	1370_1372	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_uc010ceo.3_In_Frame_Del_p.189_190SS>S|RANBP10_uc010vju.2_In_Frame_Del_p.362_363SS>S|RANBP10_uc010vjv.2_In_Frame_Del_p.301_302SS>S|RANBP10_uc010vjw.1_In_Frame_Del_p.79_80SS>S	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	418	Ser-rich.							p.S418S(4)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567													---	267	---	---	11	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:69726420_69726422delCAG	uc002exm.2	+	11	2974_2976	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_uc002exj.2_In_Frame_Del_p.Q812del|NFAT5_uc002exk.2_In_Frame_Del_p.Q812del|NFAT5_uc002exl.2_In_Frame_Del_p.Q906del|NFAT5_uc002exn.2_In_Frame_Del_p.Q905del|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_In_Frame_Del_p.Q812del	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	888	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													---	392	---	---	11	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:3721809_3721811delTCC	uc010ckl.1	-	9	1079_1081	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_uc002fwr.2_In_Frame_Del_p.62_63EE>E|C17orf85_uc002fwq.2_In_Frame_Del_p.72_73EE>E	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	352	Glu-rich.						nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													---	453	---	---	10	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7495872_7495874delCGG	uc002gia.2	-	14	2138_2140	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	RNA binding|protein binding	p.R590S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													---	1254	---	---	13	---					
CHD3	1107	broad.mit.edu	37	17	7798765	7798765	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7798765delC	uc002gjd.2	+	9	1791	c.1789delC	c.(1789-1791)cccfs	p.P597fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P538fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P538fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P366fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	538					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGATGTCCCACCCCCCCGTCC	0.577													---	592	---	---	7	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:17394705_17394707delCAG	uc002grh.1	+	1	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													---	488	---	---	10	---					
TMEM97	27346	broad.mit.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:26653806_26653807insA	uc002hat.3	+	2	663_664	c.518_519insA	c.(517-519)agafs	p.R173fs		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	Homo sapiens transmembrane protein 97 (TMEM97), mRNA.	173					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441													---	264	---	---	19	---					
KIAA0100	9703	broad.mit.edu	37	17	26966334	26966334	+	Splice_Site	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:26966334delT	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGACTGACCTTTTTTTCCTT	0.438													---	644	---	---	7	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:27001303_27001305delGAG	uc010crt.3	+	3	304_306	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_uc002hby.3_In_Frame_Del_p.E43del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.E42D(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													---	316	---	---	7	---					
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:33749493delA	uc002hji.4	-	1	932	c.555delT	c.(553-555)tttfs	p.F185fs	SLFN12_uc002hjj.4_Frame_Shift_Del_p.F185fs|SLFN12_uc010cts.3_Frame_Shift_Del_p.F185fs	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368													---	423	---	---	11	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:38978766_38978768delTCC	uc002hvi.3	-	0	96_98	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													---	229	---	---	23	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:46622130_46622132delAGG	uc002inm.3	-	0	262_264	c.142_144delCCT	c.(142-144)cctdel	p.P48del		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	48					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596													---	523	---	---	10	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:56387404_56387406delTCC	uc002ivx.4	-	20	4684_4686	c.3813_3815delGGA	c.(3811-3816)gaggaa>gaa	p.1271_1272EE>E	BZRAP1_uc010dcs.3_In_Frame_Del_p.1211_1212EE>E|BZRAP1_uc010wnt.2_In_Frame_Del_p.1271_1272EE>E	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1271	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586													---	456	---	---	13	---					
PRR11	55771	broad.mit.edu	37	17	57247171	57247171	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:57247171delA	uc002ixf.2	+	1	370	c.58delA	c.(58-60)aaafs	p.K20fs	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	20								p.E23fs*9(3)|p.E23fs*46(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAGATTATTCAAAAAAAAAGA	0.363													---	394	---	---	11	---					
MED13	9969	broad.mit.edu	37	17	60033826	60033826	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:60033826delT	uc002izo.3	-	23	5574	c.5497delA	c.(5497-5499)agtfs	p.S1833fs		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1833					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTAGCAGAACTTTTTTTCCGA	0.363													---	513	---	---	7	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:61899155_61899157delCTC	uc002jbz.3	-	13	1600_1602	c.1522_1524delGAG	c.(1522-1524)gagdel	p.E508del	FTSJ3_uc002jca.3_In_Frame_Del_p.E508del	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													---	1138	---	---	14	---					
FTSJ3	117246	broad.mit.edu	37	17	61901501	61901503	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:61901501_61901503delTCC	uc002jbz.3	-	10	1173_1175	c.1095_1097delGGA	c.(1093-1098)gaggaa>gaa	p.365_366EE>E	FTSJ3_uc002jca.3_In_Frame_Del_p.365_366EE>E	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	365					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTTCAGTTGTtcctcctcctcct	0.562													---	1011	---	---	8	---					
CD300A	11314	broad.mit.edu	37	17	72469711	72469712	+	Frame_Shift_Ins	INS	-	GC	GC			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:72469711_72469712insGC	uc002jkv.3	+	1	398_399	c.77_78insGC	c.(76-78)ggcfs	p.G26fs	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	26	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACCGTGGCGGGCCCCGTGGGGG	0.569													---	725	---	---	12	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:78201649_78201651delTGC	uc002jyb.2	+	6	932_934	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_uc002jyc.2_In_Frame_Del_p.L213del|SLC26A11_uc002jyd.2_In_Frame_Del_p.L213del|SLC26A11_uc010dhv.2_In_Frame_Del_p.L213del	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	213						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													---	808	---	---	11	---					
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr18:47812275_47812277delCTG	uc002leq.4	-	4	1214_1216	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_uc002lep.4_In_Frame_Del_p.Q18del|CXXC1_uc002ler.4_In_Frame_Del_p.Q161del|CXXC1_uc010doy.3_In_Frame_Del_p.Q161del	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	161					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557													---	215	---	---	13	---					
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													---	991	---	---	16	---					
SLC25A41	284427	broad.mit.edu	37	19	6433605	6433605	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:6433605delG	uc010dus.3	-	0	186	c.100delC	c.(100-102)caafs	p.Q34fs	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	34	Pro-rich.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ggcggaggttgggggggaggc	0.577													---	423	---	---	7	---					
CCDC151	115948	broad.mit.edu	37	19	11541818	11541818	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:11541818delA	uc002mrs.3	-	1	410	c.267delT	c.(265-267)tttfs	p.F89fs	CCDC151_uc002mrr.3_Frame_Shift_Del_p.F24fs|CCDC151_uc010dxz.3_Frame_Shift_Del_p.F89fs	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	89										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GAGAGCTCTCAAAAAAAGCCT	0.537													---	1047	---	---	7	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:17160706_17160707delGA	uc002nfe.3	-	10	1320_1321	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.S403fs	HAUS8_uc002nff.3_Frame_Shift_Del_p.S402fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	403					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													---	1310	---	---	13	---					
ARHGEF1	9138	broad.mit.edu	37	19	42408394	42408396	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:42408394_42408396delCTG	uc002orx.3	+	21	2129_2131	c.2020_2022delCTG	c.(2020-2022)ctgdel	p.L678del	ARHGEF1_uc002ory.3_In_Frame_Del_p.L645del|ARHGEF1_uc002orz.3_In_Frame_Del_p.L516del|ARHGEF1_uc002osa.3_In_Frame_Del_p.L693del|ARHGEF1_uc002osb.3_In_Frame_Del_p.L660del|ARHGEF1_uc002osc.3_In_Frame_Del_p.L432del|ARHGEF1_uc002osd.3_In_Frame_Del_p.L337del	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	678	PH.				Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGGACGACCTGCTGCTGCTGC	0.700													---	239	---	---	8	---					
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:49978960_49978962delCTG	uc002pnu.3	+	2	156_158	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_uc002pnw.3_5'UTR|FLT3LG_uc010yau.2_In_Frame_Del_p.L20del|FLT3LG_uc002pnv.3_5'UTR|FLT3LG_uc002pnx.3_In_Frame_Del_p.L20del|FLT3LG_uc010yav.2_5'UTR	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													---	570	---	---	16	---					
SPIB	6689	broad.mit.edu	37	19	50926984	50926985	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:50926984_50926985insG	uc002psd.3	+	4	487_488	c.462_463insG	c.(460-465)gctggcfs	p.A154fs	SPIB_uc021uyc.1_Frame_Shift_Ins_p.A123fs|SPIB_uc002pse.3_Frame_Shift_Ins_p.A154fs|SPIB_uc010ycc.2_Frame_Shift_Ins_p.A63fs	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	154					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCCTCGTGGCTGGCCCCGAGGG	0.668													---	110	---	---	8	---					
CNOT3	4849	broad.mit.edu	37	19	54649671	54649671	+	Frame_Shift_Del	DEL	T	-	-	rs36665	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:54649671delT	uc002qdj.2	+	8	1053	c.729delT	c.(727-729)cctfs	p.P243fs	CNOT3_uc010yel.2_Frame_Shift_Del_p.P243fs|CNOT3_uc002qdi.3_Frame_Shift_Del_p.P156fs|CNOT3_uc002qdk.2_Frame_Shift_Del_p.P243fs|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	243					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACCTCCCCTCCCAGCCACA	0.632													---	581	---	---	7	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:55146148_55146150delCTC	uc002qgj.3	+	10	1757_1759	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.3_In_Frame_Del_p.L479del|LILRB1_uc002qgk.3_In_Frame_Del_p.L480del|LILRB1_uc002qgm.3_In_Frame_Del_p.L480del|LILRB1_uc010erq.3_In_Frame_Del_p.L463del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)|p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			---	320	---	---	10	---					
KIR3DL2	3812	broad.mit.edu	37	19	55324675	55324675	+	Frame_Shift_Del	DEL	A	-	-	rs148484482		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:55324675delA	uc010yfl.2	+	5	829	c.796delA	c.(796-798)aaafs	p.K266fs	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Intron|KIR3DL2_uc002qhi.3_Frame_Shift_Del_p.K251fs|KIR3DL2_uc021vbn.1_Frame_Shift_Del_p.K268fs|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Intron|KIR3DL2_uc010esd.3_Intron|KIR3DL2_uc010ese.3_Non-coding_Transcript	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	366	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.M271fs*>3(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532													---	209	---	---	8	---					
PPP1R12C	54776	broad.mit.edu	37	19	55607462	55607462	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:55607462delC	uc002qix.3	-	7	1126	c.1110delG	c.(1108-1110)gggfs	p.G370fs	PPP1R12C_uc010yfs.2_Frame_Shift_Del_p.G296fs|PPP1R12C_uc002qiy.3_Frame_Shift_Del_p.G370fs|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	370						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGATGGGGGGCCCCCCAGCCC	0.647													---	471	---	---	7	---					
CD93	22918	broad.mit.edu	37	20	23065523	23065523	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:23065523delC	uc002wsv.3	-	0	1455	c.1307delG	c.(1306-1308)ggcfs	p.G436fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	436	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGAGGGGGCCCCCCGGGCC	0.637													---	781	---	---	7	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:30898763_30898765delGAG	uc002wxq.3	+	1	1363_1365	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_uc010ztv.2_Intron|KIF3B_uc010ztw.2_Intron	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													---	274	---	---	11	---					
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:58452518_58452519insT	uc002yaz.3	-	31	3210_3211	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.N1024fs*3(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327													---	332	---	---	10	---					
SYCP2	10388	broad.mit.edu	37	20	58490593	58490593	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:58490593delT	uc002yaz.3	-	7	665	c.526delA	c.(526-528)atgfs	p.M176fs	SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	176					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATAGCATTCATTTTTTTTATA	0.289													---	686	---	---	7	---					
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:61833650_61833652delCCT	uc002yeh.3	-	3	1934_1936	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_uc011aaq.2_In_Frame_Del_p.E497del	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													---	835	---	---	15	---					
MYT1	4661	broad.mit.edu	37	20	62839333	62839335	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:62839333_62839335delGAG	uc002yii.3	+	6	1148_1150	c.784_786delGAG	c.(784-786)gagdel	p.E273del	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	273	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E273D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaggacgaggaggaggagg	0.596													---	121	---	---	8	---					
SCAF4	57466	broad.mit.edu	37	21	33043971	33043972	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr21:33043971_33043972delTC	uc002ypd.2	-	19	3610_3611	c.3184_3185delGA	c.(3184-3186)gatfs	p.D1062fs	SCAF4_uc002ype.2_Frame_Shift_Del_p.D1040fs|SCAF4_uc010glu.2_Frame_Shift_Del_p.D1047fs	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	1062						nucleus	RNA binding|nucleotide binding	p.D1062Y(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATCTCTAGAATCTCTCTCTCTG	0.525													---	810	---	---	9	---					
CBR3	874	broad.mit.edu	37	21	37510175	37510175	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr21:37510175delT	uc002yve.3	+	1	570	c.342delT	c.(340-342)aatfs	p.N114fs	CBR3-AS1_uc002yvc.2_Intron|CBR3-AS1_uc002yvd.2_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	Homo sapiens carbonyl reductase 3 (CBR3), mRNA.	114						cytosol|nucleus	NADPH binding|carbonyl reductase (NADPH) activity			kidney(1)|large_intestine(1)|lung(1)	3						TGAAGACAAATTTTTTTGCCA	0.408													---	835	---	---	8	---					
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:20918817_20918819delCAG	uc002zsp.3	+	5	612_614	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_uc002zsn.1_In_Frame_Del_p.Q107del|MED15_uc002zso.2_In_Frame_Del_p.Q117del|MED15_uc002zsq.3_In_Frame_Del_p.Q188del|MED15_uc010gso.3_In_Frame_Del_p.Q188del|MED15_uc002zsr.3_In_Frame_Del_p.Q162del|MED15_uc011ahs.2_In_Frame_Del_p.Q162del|MED15_uc011aht.1_In_Frame_Del_p.Q162del|MED15_uc002zss.3_In_Frame_Del_p.Q107del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	188	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	106	---	---	7	---					
MTMR3	8897	broad.mit.edu	37	22	30415991	30415991	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:30415991delC	uc003agv.4	+	16	2671	c.2343delC	c.(2341-2343)gtcfs	p.V781fs	MTMR3_uc003agu.4_Frame_Shift_Del_p.V781fs|MTMR3_uc003agw.4_Frame_Shift_Del_p.V781fs	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	781					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTCTCCAGGTCCCCCCCAGGG	0.552													---	768	---	---	7	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:36689419_36689421delCCT	uc003apg.3	-	29	4280_4282	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				---	506	---	---	9	---					
DNAJB7	150353	broad.mit.edu	37	22	41257114	41257115	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:41257114_41257115insT	uc003azj.3	-	0	1016_1017	c.884_885insA	c.(883-885)aagfs	p.K295fs	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	295	Poly-Lys.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTTACGCTTCTTTTTTTTCCT	0.381													---	483	---	---	7	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:43213780delT	uc003bdd.2	-	9	1116	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													---	1003	---	---	11	---					
MLC1	23209	broad.mit.edu	37	22	50506871	50506872	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:50506871_50506872insG	uc003bjg.1	-	9	1157_1158	c.884_885insC	c.(883-885)ccafs	p.P295fs	MLC1_uc011arl.1_Frame_Shift_Ins_p.P243fs|MLC1_uc003bjh.1_Frame_Shift_Ins_p.P295fs|MLC1_uc011arm.1_Frame_Shift_Ins_p.P265fs|MLC1_uc011arn.1_Frame_Shift_Ins_p.P216fs|MLC1_uc011aro.1_Frame_Shift_Ins_p.P261fs	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	295						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CTTTTATGGCTGGCGGGTAATC	0.525													---	699	---	---	11	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:16850849_16850850delAG	uc004cxq.2	+	5	1024_1025	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_uc010ney.2_Frame_Shift_Del_p.Q191fs|TXLNG_uc004cxr.1_5'Flank	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													---	229	---	---	7	---					
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:100880152_100880154delTGA	uc022cap.1	+	0	183_185	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_uc004ehz.1_In_Frame_Del_p.D66del|ARMCX3_uc004eia.1_In_Frame_Del_p.D66del|ARMCX3_uc004eib.1_In_Frame_Del_p.D66del|ARMCX3_uc004eic.1_In_Frame_Del_p.D66del	NM_177948	NP_808817	Q9UH62	ARMX3_HUMAN	Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 3, mRNA.	66						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517													---	631	---	---	7	---					
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:142803692delT	uc004fbz.3	-	0	825	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443													---	469	---	---	10	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:152087570_152087572delGAG	uc011myg.2	+	6	523_525	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_uc011myi.2_In_Frame_Del_p.E165del|ZNF185_uc011myj.2_In_Frame_Del_p.E165del|ZNF185_uc011myh.2_In_Frame_Del_p.E165del|ZNF185_uc011myk.2_In_Frame_Del_p.E165del|ZNF185_uc010ntv.2_In_Frame_Del_p.E165del|ZNF185_uc004fgw.4_In_Frame_Del_p.E30del|ZNF185_uc004fgu.3_5'UTR|ZNF185_uc004fgv.3_5'Flank	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													---	101	---	---	8	---					
