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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC24A4	123041	broad.mit.edu	37	14	92949145	92949145	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:92949145C>T	ENST00000532405.1	+	13	1603	c.1377C>T	c.(1375-1377)acC>acT	p.T459T	SLC24A4_ENST00000531433.1_Silent_p.T440T|SLC24A4_ENST00000351924.5_Silent_p.T423T|SLC24A4_ENST00000393265.2_Silent_p.T395T|SLC24A4_ENST00000298877.1_Silent_p.T442T			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	459						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCTTCATCACCGCCACGCTGT	0.602000													24	21					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112362632	112362632	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:112362632C>T	ENST00000361804.4	+	27	3473	c.3347C>T	c.(3346-3348)tCa>tTa	p.S1116L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1116	Ala/Asp-rich (DA-box).				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAACAGCTTTCAGGTGGACAG	0.398000													29	97					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404461	197404461	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:197404461C>T	ENST00000367397.1	+	5	2469	c.1611C>T	c.(1609-1611)gaC>gaT	p.D537D	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Silent_p.D1156D|CRB1_ENST00000544212.1_Silent_p.D637D|CRB1_ENST00000367399.2_Silent_p.D1044D|CRB1_ENST00000535699.1_Silent_p.D1132D			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1156	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTGTGAAGACATCTATAGCT	0.443000													70	59					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75188726	75188726	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:75188726C>T	ENST00000563422.1	+	6	936	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	MPI_ENST00000323744.6_Intron|MPI_ENST00000352410.4_Intron|MPI_ENST00000566377.1_Intron|MPI_ENST00000562606.1_Silent_p.L282L|MPI_ENST00000563786.1_Intron|MPI_ENST00000535694.1_Intron|MPI_ENST00000564003.1_Silent_p.L191L			P34949	MPI_HUMAN	mannose phosphate isomerase	0					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						gtttccctatctggacaaagg	0.582000													4	12					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39594463	39594463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:39594463C>T	ENST00000246646.3	-	6	1122	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	375	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCCCGGATCTCAGACAGCTGC	0.612000													25	40					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39680030	39680030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:39680030G>A	ENST00000361566.3	-	6	1228	c.1168C>T	c.(1168-1170)Cac>Tac	p.H390Y		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TTGTTGTAGTGATCTTCCTGT	0.582000													16	45					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250862	140250862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:140250862C>T	ENST00000398640.2	+	1	2174	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCGGCAACGCCCACTGAG	0.667000													24	40					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132276720	132276720	+	RNA	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:132276720C>T	ENST00000438378.2	+	0	2040					NR_026922.1																						TCCTTCCTCTCATGGCTGGGC	0.597000													7	29					0	0	1	0	0
IL19	29949	broad.mit.edu	37	1	207010082	207010082	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:207010082C>T	ENST00000270218.6	+	3	1014	c.75C>T	c.(73-75)ctC>ctT	p.L25L	IL19_ENST00000340758.2_Silent_p.L63L	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	25					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACCACGGTCTCAGGAGATGTC	0.458000													43	218					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53675381	53675381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:53675381C>T	ENST00000257934.4	+	13	2681	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.R864*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	864					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						TGATCTGCTTCGAAGTCAACT	0.453000													64	100					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691791	30691791	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:30691791C>T	ENST00000215790.7	-	4	623	c.459G>A	c.(457-459)gtG>gtA	p.V153V	TBC1D10A_ENST00000403477.3_Silent_p.V160V|RP1-130H16.18_ENST00000447976.1_Silent_p.V27V|TBC1D10A_ENST00000403362.1_Silent_p.V65V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	153	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACGCTCAATCACGTCCAGCC	0.627000													10	28					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175433	57175433	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:57175433G>A	ENST00000537055.2	-	2	1365	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCGGTGCTGGAGGAGGTGGG	0.667000													8	36					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154595624	154595624	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:154595624C>T	ENST00000404039.1	+	14	1853	c.1266C>T	c.(1264-1266)gaC>gaT	p.D422D	DPP6_ENST00000427557.1_Silent_p.D379D|DPP6_ENST00000332007.3_Silent_p.D424D|DPP6_ENST00000377770.3_Silent_p.D486D	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	486					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGGACTGGGACGTGACCAAGA	0.557000													7	30					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77797320	77797320	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:77797320T>G	ENST00000354212.4	-	15	2762	c.2509A>C	c.(2509-2511)Acc>Ccc	p.T837P	MAGI2_ENST00000419488.1_Missense_Mutation_p.T823P|MAGI2_ENST00000522391.1_Missense_Mutation_p.T837P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	837	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGCGGTGGGTTTTGCCGGCT	0.552000													175	77					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74351802	74351802	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:74351802G>C	ENST00000263681.2	+	12	1521	c.1392G>C	c.(1390-1392)caG>caC	p.Q464H	POLD3_ENST00000527458.1_Missense_Mutation_p.Q425H|POLD3_ENST00000532497.1_Missense_Mutation_p.Q358H	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	464					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCTTCTTCCAGAGGAAATAAA	0.468000													26	50					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712219	41712219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:41712219G>A	ENST00000373025.3	-	3	306	c.244C>T	c.(244-246)Cca>Tca	p.P82S	PGC_ENST00000425343.2_Missense_Mutation_p.P82S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	82					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCTGGGGTGGAGTCCCGATG	0.617000													33	105					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209500	140209500	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:140209500G>A	ENST00000529310.1	+	1	1938	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S608S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.657000													43	52					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38103718	38103718	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:38103718G>C	ENST00000308059.6	+	4	753	c.732G>C	c.(730-732)caG>caC	p.Q244H	DLEC1_ENST00000452631.2_Missense_Mutation_p.Q244H|DLEC1_ENST00000346219.3_Missense_Mutation_p.Q244H			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	244					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTCCGTCCAGAAGAAAGAGC	0.453000													29	73					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756289	32756289	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:32756289G>A	ENST00000249007.4	+	2	629	c.424G>A	c.(424-426)Gac>Aac	p.D142N	RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.D113N|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.D113N	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	142	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCTCATTTCTGACGACCTCAG	0.532000													45	92					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54585191	54585191	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:54585191C>T	ENST00000251636.5	-	8	1121	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	325							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTTTCCTTTCATTTTGTTGA	0.333000													24	30					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9532073	9532073	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:9532073C>T	ENST00000352665.5	+	9	1179	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	WDR16_ENST00000299764.5_Silent_p.I380I|WDR16_ENST00000396219.3_Silent_p.I302I	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	370						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGCTGCGGATCACCGTGCCCA	0.542000													27	40					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70543161	70543161	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:70543161G>T	ENST00000323786.5	-	7	996	c.975C>A	c.(973-975)ttC>ttA	p.F325L	COG4_ENST00000393612.4_Missense_Mutation_p.F321L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	321					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTTGCTTGATGAACTTGTCTA	0.483000													45	77					8.20599e-20	8.59306e-20	1	1	0
GRM7	2917	broad.mit.edu	37	3	7188201	7188201	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:7188201C>G	ENST00000486284.1	+	2	856	c.582C>G	c.(580-582)ttC>ttG	p.F194L	GRM7_ENST00000357716.4_Missense_Mutation_p.F194L|GRM7_ENST00000403881.1_Missense_Mutation_p.F194L|GRM7_ENST00000402647.2_Missense_Mutation_p.F194L|GRM7_ENST00000389336.4_Missense_Mutation_p.F194L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	194					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCTATGACTTCTTCTCTCGCG	0.537000													44	118					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46678347	46678347	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:46678347C>G	ENST00000274793.7	-	8	908	c.712G>C	c.(712-714)Gac>Cac	p.D238H	PLA2G7_ENST00000541026.1_Missense_Mutation_p.D111H|PLA2G7_ENST00000538237.1_Missense_Mutation_p.D193H|PLA2G7_ENST00000537365.1_Missense_Mutation_p.D238H	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	238					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGATCAATGTCAAGAATCAGA	0.323000													54	125					0	0	1	0	0
DAP3	7818	broad.mit.edu	37	1	155686886	155686886	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:155686886G>A	ENST00000368336.5	+	3	259	c.135G>A	c.(133-135)ccG>ccA	p.P45P	DAP3_ENST00000535183.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Silent_p.P45P|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Silent_p.P45P|DAP3_ENST00000471214.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	45					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTGAGAGTCCGAGAGCTATTT	0.473000													17	133					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230601	38230601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:38230601G>A	ENST00000339503.4	-	8	1117	c.616C>T	c.(616-618)Cat>Tat	p.H206Y	ZNF573_ENST00000357309.3_Missense_Mutation_p.H176Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H176Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H177Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H264Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ACTCTCTGATGAATTCTAAGA	0.428000													68	165					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201193890	201193890	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:201193890C>T	ENST00000335211.4	+	21	10504	c.10374C>T	c.(10372-10374)ctC>ctT	p.L3458L	IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGATGGCCTCACCCAGCTTC	0.572000													18	62					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74018254	74018254	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:74018254G>A	ENST00000296805.3	-	20	2618	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	GFM2_ENST00000345239.2_Missense_Mutation_p.R674C|GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.R721C	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	721					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTCCTGGCGAGTCTGAATT	0.403000													49	106					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2054178	2054178	+	Missense_Mutation	SNP	G	G	T	rs140995511		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:2054178G>T	ENST00000262113.4	+	22	3022	c.2881G>T	c.(2881-2883)Gtg>Ttg	p.V961L	MYOM2_ENST00000523438.1_Missense_Mutation_p.V386L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	961	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AATCGAAACCGTGGGGGATCA	0.448000													16	95					7.26314e-15	7.55821e-15	1	1	0
POU2F2	5452	broad.mit.edu	37	19	42599758	42599758	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:42599758C>T	ENST00000389341.5	-	10	911	c.845G>A	c.(844-846)cGc>cAc	p.R282H	POU2F2_ENST00000529952.1_Missense_Mutation_p.R298H|POU2F2_ENST00000560558.1_Missense_Mutation_p.R243H|POU2F2_ENST00000560398.1_Missense_Mutation_p.R304H|POU2F2_ENST00000529067.1_Missense_Mutation_p.R282H|POU2F2_ENST00000526816.2_Missense_Mutation_p.R298H|POU2F2_ENST00000342301.4_Missense_Mutation_p.R298H|POU2F2_ENST00000533720.1_Missense_Mutation_p.R282H	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	298					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCTCTTCTTGCGTCTCCGGCC	0.647000													8	29					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951844	44951844	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:44951844G>A	ENST00000296125.4	+	11	1658	c.1590G>A	c.(1588-1590)tcG>tcA	p.S530S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	530					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATAAGACCTCGCAGATCCAAG	0.507000													27	63					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718807	142718807	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:142718807A>G	ENST00000381779.4	-	2	343	c.118T>C	c.(118-120)Tat>Cat	p.Y40H	SLITRK4_ENST00000338017.4_Missense_Mutation_p.Y40H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.Y40H	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	40						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTGACATAGAGCACATTC	0.373000													5	163					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147127991	147127991	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:147127991G>A	ENST00000282928.4	+	1	821	c.92G>A	c.(91-93)cGa>cAa	p.R31Q		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	31					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTGGCCGAACGAGACGTGGGC	0.706000													11	38					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39764247	39764247	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:39764247C>T	ENST00000429727.2	-	4	548	c.508G>A	c.(508-510)Gac>Aac	p.D170N	ERG_ENST00000417133.2_Intron|ERG_ENST00000398907.1_Intron|ERG_ENST00000398897.1_Intron|ERG_ENST00000288319.7_Intron|ERG_ENST00000398910.1_Intron|ERG_ENST00000453032.2_Intron|ERG_ENST00000398905.1_Intron|ERG_ENST00000442448.1_Intron|ERG_ENST00000398911.1_Intron|ERG_ENST00000398919.2_Intron			P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CATCAACAGTCATCCACTGCC	0.473000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								4	5					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95215081	95215081	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:95215081C>T	ENST00000005178.5	-	11	1305	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	370					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TCTATAGACTCAGAAGACAAA	0.378000													19	63					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48331680	48331680	+	Silent	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:48331680G>C	ENST00000428869.2	-	6	531	c.273C>G	c.(271-273)ctC>ctG	p.L91L	MRO_ENST00000588444.1_Silent_p.L91L|MRO_ENST00000436348.2_Silent_p.L105L|MRO_ENST00000398439.3_Silent_p.L91L|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Silent_p.L91L|MRO_ENST00000431965.2_Silent_p.L105L			Q9BYG7	MSTRO_HUMAN	maestro	91						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCAGCAGGTCGAGGACAATTT	0.463000													39	54					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53647820	53647820	+	Silent	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:53647820C>A	ENST00000534842.1	+	2	1669	c.1522C>A	c.(1522-1524)Cga>Aga	p.R508R	MFSD5_ENST00000329548.4_Silent_p.R401R	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	401					transport	integral to membrane		p.R401*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TGACAGTGATCGAAAAACAGG	0.547000													38	69					3.76114e-14	3.90174e-14	1	1	0
TLN2	83660	broad.mit.edu	37	15	63125727	63125727	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:63125727G>C	ENST00000561311.1	+	54	7257	c.7027G>C	c.(7027-7029)Gag>Cag	p.E2343Q	RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.E2343Q			Q9Y4G6	TLN2_HUMAN	talin 2	2343	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGGACTTTGAGGAACAGAT	0.498000													28	111					0	0	1	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176072440	176072440	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:176072440C>G	ENST00000318682.6	+	8	1121	c.537C>G	c.(535-537)gtC>gtG	p.V179V	EIF4E1B_ENST00000504597.1_Silent_p.V179V|EIF4E1B_ENST00000512734.1_3'UTR	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	179					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|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)			GGGCCGTCGTCAACATCCGCA	0.622000													19	38					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184020171	184020171	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:184020171G>A	ENST00000310118.4	+	6	1276	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.V81M|PSMD2_ENST00000439383.1_Missense_Mutation_p.V110M	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGTGAATTACGTGCCTGAGCC	0.428000													25	65					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129043065	129043065	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:129043065G>A	ENST00000354456.3	+	0	1377				LARP1B_ENST00000326639.6_Missense_Mutation_p.D416N|LARP1B_ENST00000441387.1_Missense_Mutation_p.D416N|LARP1B_ENST00000264584.5_Missense_Mutation_p.D369N|LARP1B_ENST00000512292.1_Missense_Mutation_p.D416N|LARP1B_ENST00000427266.1_Missense_Mutation_p.D416N			Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B								RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTTTTTGTTTGATGAAGAGAT	0.333000													24	34					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152456262	152456262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:152456262G>A	ENST00000367255.5	-	142	26366	c.25765C>T	c.(25765-25767)Cag>Tag	p.Q8589*	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.Q767*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.Q744*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q8201*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q8541*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q8589*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q3113*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q8541*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8589					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGATGGTCCTGAAGTATCTCT	0.383000										HNSCC(10;0.0054)			21	86					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80546041	80546041	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:80546041C>T	ENST00000265361.3	-	2	618	c.57G>A	c.(55-57)gtG>gtA	p.V19V	SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Silent_p.V37V|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000419255.2_Silent_p.V19V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	19					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGATCCTTTCACACAGATAG	0.343000													40	128					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38117541	38117541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:38117541G>A	ENST00000261439.4	+	16	3123	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	TBC1D1_ENST00000508802.1_Missense_Mutation_p.R1017Q|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	923	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ATGGGGCTGCGGAAACAGTAT	0.403000													43	45					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20856088	20856088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:20856088G>T	ENST00000262715.5	-	18	2700	c.2660C>A	c.(2659-2661)cCc>cAc	p.P887H	TEP1_ENST00000556935.1_Missense_Mutation_p.P779H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	887					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGAGCCAAGGGGCTTGGAGT	0.532000													32	71					4.92203e-23	5.17046e-23	1	1	0
KIF2C	11004	broad.mit.edu	37	1	45218850	45218850	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:45218850G>A	ENST00000372217.1	+	5	675	c.324G>A	c.(322-324)ttG>ttA	p.L108L	KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372224.4_Silent_p.L162L|KIF2C_ENST00000372222.3_Silent_p.L49L|KIF2C_ENST00000372218.4_Intron			Q99661	KIF2C_HUMAN	kinesin family member 2C	162	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAATACCATTGAGGATGGTCA	0.547000													51	98					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891905	38891905	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:38891905G>A	ENST00000359357.3	+	71	10532	c.10278G>A	c.(10276-10278)ctG>ctA	p.L3426L	DNAH8_ENST00000441566.1_Silent_p.L3390L|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.L3643L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAAAACCTGAATCTTATTT	0.348000													30	90					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118651	4118651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:4118651G>A	ENST00000324333.10	-	3	555	c.362C>T	c.(361-363)aCg>aTg	p.T121M	GLIS3_ENST00000381971.3_Missense_Mutation_p.T276M	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	121	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCTACTTTCCGTGCCAAAAAG	0.557000													43	108					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1808924	1808924	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:1808924G>A	ENST00000340107.4	+	18	2618	c.2362G>A	c.(2362-2364)Gac>Aac	p.D788N	FGFR3_ENST00000352904.1_Missense_Mutation_p.D674N|FGFR3_ENST00000440486.2_Missense_Mutation_p.D786N|FGFR3_ENST00000260795.2_Missense_Mutation_p.D786N|FGFR3_ENST00000412135.2_Missense_Mutation_p.D674N|FGFR3_ENST00000481110.2_Missense_Mutation_p.R763Q	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	786					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTCAGGGGACGACTCCGTGTT	0.701000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				10	7					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	85					0	0	1	0	0
MT-ATP6	4508	broad.mit.edu	37	MT	9133	9133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrM:9133G>A	ENST00000361899.2	+	1	607	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K						mitochondrially encoded ATP synthase 6											breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						TGACTATCCTAGAAATCGCTG	0.428000													4	23					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256442	52256442	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52256442C>G	ENST00000597542.1	-	9	2919	c.1962G>C	c.(1960-1962)ttG>ttC	p.L654F	TLR9_ENST00000494383.1_Missense_Mutation_p.D784H|TLR9_ENST00000360658.2_Missense_Mutation_p.L630F			Q9NR96	TLR9_HUMAN	toll-like receptor 9	630					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCAGCCAGATCAAACCGCTCA	0.612000													17	73					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9437728	9437728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:9437728C>T	ENST00000310430.6	+	2	759	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	TNKS_ENST00000518281.1_Missense_Mutation_p.R8C|TNKS_ENST00000520408.1_Missense_Mutation_p.R245C	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	245					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGTCCACGCTCGTGATGATGG	0.418000													69	193					0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53815217	53815217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:53815217G>C	ENST00000343017.6	+	1	1629	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	SNX18_ENST00000381410.4_Missense_Mutation_p.E479Q|SNX18_ENST00000326277.3_Missense_Mutation_p.E479Q	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	479	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CCAGGCCTTTGAGCTGGACCA	0.627000													20	33					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	37015106	37015106	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:37015106C>T	ENST00000358127.4	-	3	372	c.298G>A	c.(298-300)Gct>Act	p.A100T	PAX5_ENST00000523241.1_Missense_Mutation_p.A100T|PAX5_ENST00000520154.1_Missense_Mutation_p.A100T|PAX5_ENST00000377847.2_Missense_Mutation_p.A100T|PAX5_ENST00000377852.2_Missense_Mutation_p.A100T|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377853.2_Missense_Mutation_p.A100T|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.A100T|PAX5_ENST00000414447.1_Missense_Mutation_p.A100T	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	100	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTATATTCAGCGATTTTTTCC	0.522000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								138	315					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69385733	69385733	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:69385733G>A	ENST00000342206.6	+	6	1421	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	IGBP1_ENST00000356413.4_Missense_Mutation_p.E308K			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	308					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						AGAAAAGGAGGAAGAGGATGA	0.468000													17	41					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	390558	390558	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:390558G>C	ENST00000432829.2	+	24	3074	c.2758G>C	c.(2758-2760)Gag>Cag	p.E920Q	DOCK8_ENST00000469391.1_Missense_Mutation_p.E888Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.E455Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E290Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.E988Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	988					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTTCTTCTTTGAGCTTCTGGT	0.463000													24	83					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149678787	149678787	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:149678787G>C	ENST00000344229.3	+	11	1744	c.1042G>C	c.(1042-1044)Gat>Cat	p.D348H	RNF13_ENST00000392894.3_Missense_Mutation_p.D348H|RNF13_ENST00000361785.6_Missense_Mutation_p.D229H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	348					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGACAATGAAGATACTGACAG	0.423000													21	104					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52257323	52257323	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52257323G>A	ENST00000597542.1	-	9	2038	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	TLR9_ENST00000494383.1_Missense_Mutation_p.A490V|TLR9_ENST00000360658.2_Missense_Mutation_p.R337C			Q9NR96	TLR9_HUMAN	toll-like receptor 9	337					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTAAGCTTGCGCAGCTGTGTT	0.557000													43	97					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615302	4615302	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:4615302A>T	ENST00000450052.2	+	2	106	c.106A>T	c.(106-108)Acc>Tcc	p.T36S	OR52I1_ENST00000530443.2_Missense_Mutation_p.T12S			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACAATGGAAACCCCTGCCTC	0.473000													14	253					0	0	1	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821667	12821667	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:12821667T>G	ENST00000319264.3	+	2	1290	c.595T>G	c.(595-597)Ttg>Gtg	p.L199V		NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	202																	CCCTTCAGACTTGGACCAATT	0.512000													55	142					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58153100	58153100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:58153100C>T	ENST00000544273.1	+	5	1609	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ZNF211_ENST00000391703.3_Missense_Mutation_p.R355W|ZNF211_ENST00000347302.3_Missense_Mutation_p.R416W|ZNF211_ENST00000299871.5_Missense_Mutation_p.R481W|ZNF211_ENST00000420680.1_Missense_Mutation_p.R420W|ZNF211_ENST00000254182.7_Missense_Mutation_p.R407W|ZNF211_ENST00000240731.4_Missense_Mutation_p.R429W|ZNF211_ENST00000541801.1_Missense_Mutation_p.R407W			Q13398	ZN211_HUMAN	zinc finger protein 211	416						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTCACCACCGGAGACTTCA	0.478000													39	77					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36956606	36956606	+	Silent	SNP	G	G	A	rs147850488		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:36956606G>A	ENST00000379242.3	+	3	392	c.90G>A	c.(88-90)acG>acA	p.T30T	VIT_ENST00000389975.3_Silent_p.T30T|VIT_ENST00000401530.1_Silent_p.T30T|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Silent_p.T30T|VIT_ENST00000457137.2_Silent_p.T30T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	30						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACAAAGAAACGGCAAAGAAGA	0.308000													32	57					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85935436	85935436	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:85935436C>A	ENST00000383699.3	+	5	1115	c.488C>A	c.(487-489)gCa>gAa	p.A163E	CADM2_ENST00000407528.2_Missense_Mutation_p.A154E|CADM2_ENST00000405615.2_Missense_Mutation_p.A156E	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	154	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTAAACCTGCAGCTGATATA	0.363000													21	55					2.39187e-15	2.49685e-15	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46264311	46264311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:46264311C>T	ENST00000372004.3	+	11	1574	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	NCOA3_ENST00000341724.6_Missense_Mutation_p.S463F|NCOA3_ENST00000371998.3_Missense_Mutation_p.S453F|NCOA3_ENST00000371997.3_Missense_Mutation_p.S463F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	453					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCACCATCTTCCTACCAGAAC	0.522000													26	82					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212241	131212241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:131212241G>A	ENST00000298542.4	-	12	1979	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	FRMD7_ENST00000370879.1_Missense_Mutation_p.P482S|FRMD7_ENST00000464296.1_Missense_Mutation_p.P587S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	602					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GACCCAAAAGGAAAACGAATA	0.433000													56	170					0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478000													20	37					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24710319	24710319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:24710319G>A	ENST00000399423.4	-	5	841	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	TINF2_ENST00000540705.1_Nonsense_Mutation_p.Q136*|TINF2_ENST00000558566.1_Intron|TINF2_ENST00000538777.1_Intron|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000267415.7_Nonsense_Mutation_p.Q171*	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	171					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		AGCACATCCTGAAGCTGTGGG	0.542000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				116	137					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1542722	1542722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:1542722G>A	ENST00000389470.4	-	4	547	c.548C>T	c.(547-549)tCt>tTt	p.S183F	INTS1_ENST00000404767.3_Missense_Mutation_p.S55F			Q8N201	INT1_HUMAN	integrator complex subunit 1	55					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTTGCGCTCAGAAGGCAGGCC	0.647000													25	55					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8411946	8411946	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:8411946G>T	ENST00000360416.3	-	26	3278	c.3140C>A	c.(3139-3141)gCt>gAt	p.A1047D	MYH10_ENST00000396239.1_Missense_Mutation_p.A1037D|MYH10_ENST00000379980.4_Missense_Mutation_p.A1032D|MYH10_ENST00000269243.4_Missense_Mutation_p.A1016D	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1016					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCCTCTTCAGCCAGCTGAGA	0.413000													80	119					9.31514e-26	9.84744e-26	1	1	0
NFASC	23114	broad.mit.edu	37	1	204951100	204951100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:204951100G>A	ENST00000367172.4	+	21	2750	c.2422G>A	c.(2422-2424)Ggg>Agg	p.G808R	NFASC_ENST00000404907.1_Missense_Mutation_p.G804R|NFASC_ENST00000539706.1_Missense_Mutation_p.G804R|NFASC_ENST00000401399.1_Missense_Mutation_p.G808R|NFASC_ENST00000339876.6_Missense_Mutation_p.G808R|NFASC_ENST00000360049.4_Missense_Mutation_p.G804R|NFASC_ENST00000404076.1_Missense_Mutation_p.G787R|NFASC_ENST00000513543.1_Missense_Mutation_p.G804R|NFASC_ENST00000367171.4_Missense_Mutation_p.G793R|NFASC_ENST00000338515.6_Missense_Mutation_p.G808R|NFASC_ENST00000367169.4_Missense_Mutation_p.G808R|NFASC_ENST00000367170.4_Missense_Mutation_p.G808R|NFASC_ENST00000338586.6_Missense_Mutation_p.G808R			O94856	NFASC_HUMAN	neurofascin	808	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAATGACTTCGGGAAGGGCCC	0.602000													14	28					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221574	59221574	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:59221574G>C	ENST00000262717.4	+	12	2450	c.2052G>C	c.(2050-2052)tgG>tgC	p.W684C	CDH20_ENST00000538374.1_Missense_Mutation_p.W684C|CDH20_ENST00000536675.2_Missense_Mutation_p.W684C			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	684					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGGCCATGTGGAACCCCCGGG	0.682000													38	63					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72349698	72349698	+	Silent	SNP	G	G	A	rs146555239	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:72349698G>A	ENST00000389916.4	+	17	2424	c.2286G>A	c.(2284-2286)tcG>tcA	p.S762S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	762					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAACCTGTCGGAGATCCCCT	0.592000													13	27					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41386958	41386958	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:41386958G>A	ENST00000551295.2	+	17	2117	c.2000G>A	c.(1999-2001)aGa>aAa	p.R667K	CNTN1_ENST00000348761.2_Missense_Mutation_p.R656K|CNTN1_ENST00000347616.1_Missense_Mutation_p.R667K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	667	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGGCAGCAAGAGCAGTGGAC	0.383000													63	89					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662468	40662468	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:40662468G>C	ENST00000454349.2	+	5	2445	c.2234G>C	c.(2233-2235)gGa>gCa	p.G745A	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.G745A|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	745					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TGGTCTTCTGGAAAGAATGGT	0.517000													11	27					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508078	49508078	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:49508078G>C	ENST00000396029.3	-	5	3740	c.3173C>G	c.(3172-3174)tCt>tGt	p.S1058C	ADNP_ENST00000349014.3_Missense_Mutation_p.S1058C|ADNP_ENST00000371602.4_Missense_Mutation_p.S1058C|ADNP_ENST00000396032.3_Missense_Mutation_p.S1058C	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1058						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1058fs*23(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGGGTTAGATAAGCGCTC	0.458000													56	194					0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108843519	108843519	+	Missense_Mutation	SNP	C	C	A	rs149085596	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:108843519C>A	ENST00000368977.4	+	13	1523	c.1337C>A	c.(1336-1338)tCc>tAc	p.S446Y		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	446							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		GAAGGACTCTCCATGTTTACC	0.368000													4	103					0.00024832	0.000252876	1	1	0
PLA2G4E	123745	broad.mit.edu	37	15	42285087	42285087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:42285087G>A	ENST00000399518.3	-	13	1804	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R411W|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	428	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACATGTCTCCGAGCCTCAAAG	0.572000													12	17					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609968	105609968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:105609968C>T	ENST00000331782.3	-	25	3495	c.3092G>A	c.(3091-3093)aGc>aAc	p.S1031N	JAG2_ENST00000347004.2_Missense_Mutation_p.S993N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1031					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCTGGCAGGGCTGAAGGACTG	0.682000													6	5					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420738	55420738	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:55420738G>C	ENST00000242994.3	+	2	893	c.515G>C	c.(514-516)gGa>gCa	p.G172A		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	172					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTGGTGGCTGGATGTCTCCAA	0.517000													32	55					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155531239	155531239	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:155531239A>T	ENST00000404648.3	-	5	751	c.512T>A	c.(511-513)aTc>aAc	p.I171N	FGG_ENST00000405164.1_Missense_Mutation_p.I171N|FGG_ENST00000407946.1_Missense_Mutation_p.I171N|FGG_ENST00000336098.3_Missense_Mutation_p.I171N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	171	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GATATCATGGATTTGCACCGT	0.368000													63	96					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39230743	39230743	+	Missense_Mutation	SNP	G	G	C	rs148710823	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:39230743G>C	ENST00000328867.4	-	5	985	c.677C>G	c.(676-678)tCt>tGt	p.S226C	CAPN12_ENST00000601953.1_Missense_Mutation_p.S77C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	226	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCGCAGGGCAGAGAACAGCCC	0.627000													8	37					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61444938	61444938	+	Silent	SNP	G	G	T	rs146902893		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:61444938G>T	ENST00000370461.1	+	5	4092	c.1815G>T	c.(1813-1815)gcG>gcT	p.A605A	OGFR_ENST00000290291.6_Silent_p.A657A|OGFR_ENST00000370468.3_Intron			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	657	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CAGCCAAGGCGGGGGAGGCAG	0.672000													3	114					1	1	1	1	0
PRDM14	63978	broad.mit.edu	37	8	70981882	70981882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:70981882G>A	ENST00000276594.2	-	2	415	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGCGCCATCCGGAAGGGGAAG	0.652000													7	10					0	0	1	0	0
LOC102724392	102724392	broad.mit.edu	37	5	70671819	70671819	+	RNA	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:70671819C>T	ENST00000502659.2	-	0	698				PMCHL2_ENST00000450213.2_RNA																							AGCTAAATTTCCTATAGGAAG	0.373000													5	14					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004499	248004499	+	Missense_Mutation	SNP	G	G	A	rs147783465	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:248004499G>A	ENST00000355784.2	-	1	755	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTCTTTCTCCGGCCAGAGGTG	0.502000													38	115					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074713	54074713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:54074713G>A	ENST00000373970.3	+	2	413	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	92	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CGAGGAGTGCGGCACTGATGA	0.672000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	16					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43388882	43388882	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:43388882C>G	ENST00000296088.7	+	7	1435	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	SNRK_ENST00000454177.1_Silent_p.L377L|SNRK_ENST00000437827.1_Silent_p.L171L|SNRK_ENST00000429705.2_Silent_p.L377L|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	377					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AGGATGACCTCACGGCCACTC	0.522000													26	110					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51708495	51708495	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:51708495G>A	ENST00000415259.1	+	2	1256	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TEX264_ENST00000395057.1_Missense_Mutation_p.E59K|TEX264_ENST00000416589.1_Missense_Mutation_p.E59K|TEX264_ENST00000341333.5_Missense_Mutation_p.E59K|TEX264_ENST00000457573.1_Missense_Mutation_p.E59K			Q9Y6I9	TX264_HUMAN	testis expressed 264	59						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GCTCTATGGTGAGACTGGGCG	0.587000													33	94					0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23491207	23491207	+	Splice_Site	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:23491207G>C	ENST00000309859.4	-	11	1090	c.1006_splice	c.e11-1	p.V336_splice	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	336	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GATTCTGAAAGACTAGAAAGC	0.502000													15	22					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58048682	58048682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:58048682C>T	ENST00000376233.3	+	4	491	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H91Y|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	104	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H91Y(1)|p.H104Y(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAAATGCTCATTCTTGTGA	0.512000													49	138					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125076810	125076810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:125076810C>T	ENST00000522917.1	+	26	3757	c.3551C>T	c.(3550-3552)cCt>cTt	p.P1184L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1184L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1184						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GATGGAAAACCTAAGGTCAGA	0.517000													18	52					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33370171	33370171	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:33370171C>T	ENST00000305768.4	-	19	2337	c.2249G>A	c.(2248-2250)aGa>aAa	p.R750K		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	750						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AACCAGAGCTCTGGGGTTGTC	0.562000													71	168					0	0	1	0	0
TM2D2	83877	broad.mit.edu	37	8	38851142	38851142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:38851142G>A	ENST00000412303.1	-	3	618	c.224C>T	c.(223-225)tCa>tTa	p.S75L	TM2D2_ENST00000456845.2_Missense_Mutation_p.S75L|TM2D2_ENST00000397070.2_Missense_Mutation_p.S75L|TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456397.2_Missense_Mutation_p.S118L	NM_001024380.1|NM_001024381.1|NM_031940.3	NP_001019551.1|NP_001019552.1|NP_114146.3	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	118						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCACTGGACTGAAGTGTGTTC	0.448000													26	56					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42510807	42510807	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:42510807G>T	ENST00000262895.3	-	15	2026	c.2027C>A	c.(2026-2028)aCc>aAc	p.T676N	GRIK5_ENST00000593562.1_Missense_Mutation_p.T676N|GRIK5_ENST00000301218.4_Missense_Mutation_p.T676N	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	676						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTGGAAGAAGGTCATGGTGGA	0.622000													7	28					2.74318e-10	2.82811e-10	1	1	0
OTC	5009	broad.mit.edu	37	X	38262913	38262913	+	Missense_Mutation	SNP	G	G	A	rs67294956		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:38262913G>A	ENST00000039007.4	+	6	735	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	195			G -> R (in OTCD; no activity).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CAGCTGGATCGGGGATGGGAA	0.478000													43	91					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6506129	6506129	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:6506129C>G	ENST00000276893.5	+	16	2527	c.2359C>G	c.(2359-2361)Ctg>Gtg	p.L787V	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	787					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CAATGAGATTCTGCAGACTCT	0.468000													43	117					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7320306	7320306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:7320306G>A	ENST00000302926.2	+	7	1769	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	NLGN2_ENST00000575301.1_Missense_Mutation_p.E566K	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	566					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAATCGCTTCGAGGAGGTGGT	0.597000													24	21					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37955895	37955895	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:37955895G>A	ENST00000436072.2	-	1	622	c.245C>T	c.(244-246)gCg>gTg	p.A82V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	82	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAAATGGGCGCGTACATGGC	0.622000													59	34					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30523396	30523396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:30523396G>A	ENST00000376621.3	-	2	1145	c.175C>T	c.(175-177)Cat>Tat	p.H59Y		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	59					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGCGGATATGATGGGTCACA	0.657000													46	96					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29132252	29132252	+	Silent	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:29132252G>T	ENST00000409850.1	-	10	1175	c.529C>A	c.(529-531)Cgg>Agg	p.R177R	CPVL_ENST00000396276.3_Silent_p.R177R|CPVL_ENST00000265394.5_Silent_p.R177R			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	177					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TATAAATCCCGTGCTACATCG	0.398000													62	14					2.54232e-27	2.70476e-27	1	1	0
NCSTN	23385	broad.mit.edu	37	1	160327005	160327005	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:160327005C>T	ENST00000368063.1	+	17	2189	c.1909C>T	c.(1909-1911)Cgt>Tgt	p.R637C	NCSTN_ENST00000535857.1_Missense_Mutation_p.R519C|NCSTN_ENST00000368065.4_Missense_Mutation_p.R399C|NCSTN_ENST00000294785.5_Missense_Mutation_p.R657C|NCSTN_ENST00000392212.4_Missense_Mutation_p.R637C			Q92542	NICA_HUMAN	nicastrin	657					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAAGATATCCGTGCCCGGAT	0.512000													19	43					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42934459	42934459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:42934459C>T	ENST00000426333.2	-	20	2326	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	EFTUD2_ENST00000592576.1_Missense_Mutation_p.E667K|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E677K|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E642K	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	677						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTAGGCGTTTCAGCAAAGCAC	0.507000													33	46					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100192929	100192929	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:100192929G>A	ENST00000554176.1	+	10	1545	c.879G>A	c.(877-879)caG>caA	p.Q293Q	CYP46A1_ENST00000261835.3_Silent_p.Q456Q|CYP46A1_ENST00000423126.2_Silent_p.Q359Q			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	456					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AGCTGCTGCAGAGGCTGGAGT	0.627000													3	1					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69595998	69595998	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:69595998G>A	ENST00000374403.3	+	18	2054	c.1972G>A	c.(1972-1974)Gct>Act	p.A658T	KIF4A_ENST00000374388.3_Missense_Mutation_p.A658T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	658					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAAAGAAGATGCTGAGAAGTT	0.338000													21	58					0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132636125	132636125	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:132636125C>T	ENST00000330579.1	+	12	1211	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	NOC4L_ENST00000538784.1_Silent_p.F5F|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	390					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TCCTGCCTTTCATCTGTAACC	0.721000													12	8					0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159820802	159820802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:159820802C>T	ENST00000408953.3	-	2	2203	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	C5orf54_ENST00000523213.1_Missense_Mutation_p.D566N	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	566										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						cggatatcatcactcagatta	0.373000													10	6					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29356671	29356671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:29356671C>T	ENST00000320081.5	+	5	773	c.518C>T	c.(517-519)tCg>tTg	p.S173L	CLIP4_ENST00000401605.1_Missense_Mutation_p.S173L|CLIP4_ENST00000401617.2_Missense_Mutation_p.S66L|CLIP4_ENST00000404424.1_Missense_Mutation_p.S173L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	173										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTGAAAACATCGAAACCAAAA	0.333000													27	54					0	0	1	0	0
STRBP	55342	broad.mit.edu	37	9	125921433	125921433	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:125921433G>A	ENST00000447404.2	-	8	1081	c.777C>T	c.(775-777)ggC>ggT	p.G259G	STRBP_ENST00000360998.3_Silent_p.G245G|STRBP_ENST00000348403.5_Silent_p.G259G			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	259	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CCTCCCCAGCGCCCAAAGGTC	0.393000													41	98					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85627423	85627423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:85627423C>T	ENST00000376447.3	-	5	1029	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	257					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GATTGTTCTTCGAGCTGAAAG	0.323000													11	28					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043060	184043060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:184043060C>T	ENST00000342981.4	+	18	3277	c.2863C>T	c.(2863-2865)Cga>Tga	p.R955*	EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R867*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R954*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R915*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R868*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R961*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R961*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R759*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R961*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R791*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.R954*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R790*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R914*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R758*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	954	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCTAGCCCCGAATGGATCA	0.522000													31	109					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836709	47836709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:47836709G>A	ENST00000359568.5	+	30	6984	c.6877G>A	c.(6877-6879)Gag>Aag	p.E2293K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2293					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E2293K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGTGGGCCGAGTCTCCGCC	0.692000													19	19					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26500926	26500926	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:26500926C>T	ENST00000543632.1	+	17	1991	c.1931C>T	c.(1930-1932)gCg>gTg	p.A644V	MYO3A_ENST00000265944.5_3'UTR			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGTCGGAAGGCGCTGGAGCCT	0.687000													5	9					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114133210	114133210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:114133210G>A	ENST00000369615.1	+	5	930	c.868G>A	c.(868-870)Gag>Aag	p.E290K	MAGI3_ENST00000369611.4_Missense_Mutation_p.E290K|MAGI3_ENST00000369617.4_Missense_Mutation_p.E290K|MAGI3_ENST00000307546.9_Missense_Mutation_p.E290K	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	290					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGAGATGAGACTCTGGA	0.413000													23	112					0	0	1	0	0
ASB6	140459	broad.mit.edu	37	9	132401583	132401583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:132401583C>T	ENST00000277458.4	-	4	574	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ASB6_ENST00000450050.2_Missense_Mutation_p.E58K|ASB6_ENST00000277459.4_Intron	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	137					intracellular signal transduction	cytoplasm		p.E137K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGGCTACTCTCGTGGATCTGA	0.632000													33	75					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32108096	32108096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:32108096G>A	ENST00000438447.1	+	25	8763	c.8375G>A	c.(8374-8376)gGa>gAa	p.G2792E	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2792E|CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000513490.1_3'UTR			O15018	PDZD2_HUMAN	PDZ domain containing 2	2792	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAACAAGCTGGAATAATAGAA	0.373000													33	231					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160316	41160316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:41160316C>T	ENST00000263413.3	-	11	1876	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	C6_ENST00000337836.5_Missense_Mutation_p.E538K|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	538	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACAGACATTCAGTCCCTGAG	0.473000													45	382					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97820093	97820093	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:97820093C>T	ENST00000297293.5	+	10	1345	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	351	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCCGTATTCAAACCTTTCC	0.468000													223	170					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82935280	82935280	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:82935280C>T	ENST00000306270.7	-	6	1288	c.739G>A	c.(739-741)Gat>Aat	p.D247N	IBTK_ENST00000503631.1_Missense_Mutation_p.D247N|IBTK_ENST00000510291.1_Missense_Mutation_p.D247N	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	247					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACACATCCATCTTCAGTTAAT	0.383000													23	74					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591509	60591509	+	Missense_Mutation	SNP	G	G	A	rs112427833	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:60591509G>A	ENST00000406854.1	+	9	3174	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N	PCNXL4_ENST00000406949.1_Missense_Mutation_p.D640N|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D640N|PCNXL4_ENST00000404681.2_Missense_Mutation_p.D874N|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D81N					pecanex-like 4 (Drosophila)																		TCCTGAAAACGATCTTTACAA	0.398000													7	206					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77448916	77448916	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:77448916C>A	ENST00000451710.3	-	6	904	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	TRPM6_ENST00000361255.3_Missense_Mutation_p.D218Y|TRPM6_ENST00000359047.2_Missense_Mutation_p.D223Y|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.D218Y|TRPM6_ENST00000376864.4_Missense_Mutation_p.D223Y|TRPM6_ENST00000376871.3_Missense_Mutation_p.D223Y|TRPM6_ENST00000360774.1_Missense_Mutation_p.D223Y|TRPM6_ENST00000376872.3_Missense_Mutation_p.D223Y			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	223					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTACTTACATCTTTTCCAATA	0.408000													71	54					1.02016e-41	1.09585e-41	1	1	0
GIGYF2	26058	broad.mit.edu	37	2	233704679	233704679	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:233704679G>C	ENST00000373566.3	+	24	3150	c.2953G>C	c.(2953-2955)Gag>Cag	p.E985Q	GIGYF2_ENST00000409480.1_Missense_Mutation_p.E985Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E794Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E984Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E957Q|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E963Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E963Q			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	963	Gln-rich.				cell death		protein binding	p.E963Q(1)|p.E984Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTTCGAGAAGAGGTAAAATT	0.448000													9	23					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812521	47812521	+	Silent	SNP	C	C	T	rs149686544	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:47812521C>T	ENST00000285106.6	-	4	1044	c.330G>A	c.(328-330)aaG>aaA	p.K110K	CXXC1_ENST00000589940.1_Silent_p.K110K|CXXC1_ENST00000412036.2_Silent_p.K110K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	110					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	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						GGACAGGCCTCTTGCGCCCTC	0.647000													57	87					0	0	1	0	0
LRRC71	149499	broad.mit.edu	37	1	156897321	156897321	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:156897321C>T	ENST00000337428.7	+	7	850	c.696C>T	c.(694-696)atC>atT	p.I232I	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	232										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						ACAATAACATCGACGACCGCG	0.627000													6	24					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19740868	19740868	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:19740868C>T	ENST00000203556.4	-	21	2954	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	GMIP_ENST00000445806.2_Silent_p.E910E|GMIP_ENST00000587238.1_Silent_p.E913E	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	939					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCGGGCTGTCTCCTGGGTAA	0.682000													6	14					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53243984	53243984	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:53243984C>T	ENST00000452825.3	-	6	1340	c.808G>A	c.(808-810)Gac>Aac	p.D270N	KDM5C_ENST00000375379.3_Missense_Mutation_p.D337N|KDM5C_ENST00000375383.3_Missense_Mutation_p.D296N|KDM5C_ENST00000375401.3_Missense_Mutation_p.D337N|KDM5C_ENST00000404049.3_Missense_Mutation_p.D336N	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	337					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGAGCTTGTCATCCTCATCC	0.537000			"""N, F, S"""		clear cell renal carcinoma								22	38					0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5368981	5368981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:5368981C>T	ENST00000324331.6	+	2	514	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	FARS2_ENST00000274680.4_Nonsense_Mutation_p.Q60*			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	60					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATCCTACCCTCAGGACGACCA	0.612000													29	48					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	12501	12501	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrM:12501G>A	ENST00000361567.2	+	1	165	c.165G>A	c.(163-165)atG>atA	p.M55I				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	55					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	ACAATATTCATGTGCCTAGAC	0.408000													15	2					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66691284	66691284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:66691284C>T	ENST00000488550.1	+	7	973	c.674C>T	c.(673-675)tCa>tTa	p.S225L	MEIS1_ENST00000398506.2_Missense_Mutation_p.S223L|MEIS1_ENST00000407092.2_Missense_Mutation_p.S225L|MEIS1_ENST00000560281.2_Missense_Mutation_p.S225L|MEIS1_ENST00000272369.9_Missense_Mutation_p.S225L|MEIS1_ENST00000444274.2_Missense_Mutation_p.S193L|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000495021.2_Missense_Mutation_p.S160L			O00470	MEIS1_HUMAN	Meis homeobox 1	225	Ser/Thr-rich.						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCTACTCGTTCAGGAGGAACC	0.512000													3	10					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755460	38755460	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:38755460C>G	ENST00000449082.2	-	21	3792	c.3793G>C	c.(3793-3795)Gaa>Caa	p.E1265Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1265					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGCATGCCTTCAAATCGAGAA	0.552000													32	89					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69088019	69088019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:69088019G>A	ENST00000543976.1	-	7	2224	c.1978C>T	c.(1978-1980)Cag>Tag	p.Q660*	CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Nonsense_Mutation_p.Q657*|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	657					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGGGCAGCCTGAATACTTCGG	0.353000													40	119					0	0	1	0	0
DNAJC8	22826	broad.mit.edu	37	1	28555483	28555483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:28555483C>T	ENST00000263697.4	-	2	156	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	44					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGTCTTTCAATCTGATTT	0.378000													43	111					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101342884	101342884	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:101342884G>A	ENST00000344327.3	-	8	2613	c.2189C>T	c.(2188-2190)tCa>tTa	p.S730L	TRPC6_ENST00000360497.4_Missense_Mutation_p.S675L|TRPC6_ENST00000348423.4_Missense_Mutation_p.S614L|TRPC6_ENST00000532133.1_Missense_Mutation_p.S652L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	730					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTCCTGGAATGAACTGTTGAT	0.328000													64	111					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89582907	89582907	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:89582907C>T	ENST00000370466.3	-	6	904	c.636G>A	c.(634-636)aaG>aaA	p.K212K	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	212					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TTTTACTTTTCTTATCAGTAC	0.358000													32	32					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30639566	30639566	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:30639566C>T	ENST00000389266.3	+	3	569	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	110	WHEP-TRS.				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTAACAGGAGCTGGCGTTACA	0.383000													45	101					0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603698	5603698	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:5603698G>A	ENST00000423158.3	+	2	569	c.357G>A	c.(355-357)ctG>ctA	p.L119L	NTF3_ENST00000331010.6_Silent_p.L106L|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	106					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGGTCCTGCTGAGCGACAGCA	0.627000													14	76					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111451	7111451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:7111451G>A	ENST00000306904.5	+	1	1287	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	367	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTTACAGCCGGTCAGGCTGC	0.652000													7	18					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70706381	70706381	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:70706381G>C	ENST00000373585.3	+	15	2316	c.2209G>C	c.(2209-2211)Gac>Cac	p.D737H		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	737						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ACGGAGTTTTGACTGAGTATT	0.423000													55	74					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52819193	52819193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52819193G>A	ENST00000273283.2	+	12	1565	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	ITIH1_ENST00000542827.1_Missense_Mutation_p.R514H|ITIH1_ENST00000540715.1_Missense_Mutation_p.R372H|ITIH1_ENST00000537050.1_Missense_Mutation_p.R226H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	514	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.R514H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGGCCGGGCGCATTGCTGAC	0.572000													32	135					0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133712412	133712412	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:133712412G>C	ENST00000299140.3	-	5	459	c.405C>G	c.(403-405)atC>atG	p.I135M	SPATA19_ENST00000532889.1_Missense_Mutation_p.I135M	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	135					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GATCTCGCATGATGTCCTCTG	0.498000													55	83					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53573555	53573555	+	Splice_Site	SNP	T	T	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:53573555T>A	ENST00000342160.3	-	69	11216		c.e69-2		HUWE1_ENST00000262854.6_Splice_Site|HUWE1_ENST00000474288.1_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTCAACACCTGAGAAAAAGA	0.502000													24	27					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3662836	3662836	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:3662836C>G	ENST00000382622.3	+	4	827	c.437C>G	c.(436-438)tCt>tGt	p.S146C	PRMT8_ENST00000452611.2_Missense_Mutation_p.S137C|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	146					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCCAGTATTTCTGACTACTCA	0.473000													44	73					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15555263	15555263	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:15555263G>T	ENST00000357607.2	+	14	1417	c.1229G>T	c.(1228-1230)tGg>tTg	p.W410L	BMX_ENST00000342014.6_Missense_Mutation_p.W410L|BMX_ENST00000348343.6_Missense_Mutation_p.W410L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	410					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TTAGGAATCTGGGAACTGAAA	0.483000													91	271					9.24773e-40	9.90191e-40	1	1	0
BNC2	54796	broad.mit.edu	37	9	16436303	16436303	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:16436303T>A	ENST00000380672.4	-	6	1946	c.1889A>T	c.(1888-1890)aAg>aTg	p.K630M	BNC2_ENST00000380666.2_Missense_Mutation_p.K630M|BNC2_ENST00000545497.1_Missense_Mutation_p.K535M|BNC2_ENST00000380667.2_Missense_Mutation_p.K563M	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	630				K -> T (in Ref. 1; BAC03837).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGGCTTTTTCTTGGGTGCCAG	0.527000													40	88					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9783100	9783100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:9783100C>T	ENST00000383829.2	+	5	2235	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	BRPF1_ENST00000433861.2_Missense_Mutation_p.R611W|BRPF1_ENST00000424362.1_Missense_Mutation_p.R611W|BRPF1_ENST00000302054.3_Missense_Mutation_p.R611W|BRPF1_ENST00000457855.1_Missense_Mutation_p.R611W	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	611	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GATCCGCAAGCGGGAAAAACT	0.522000													22	103					0	0	1	0	0
SF3A2	8175	broad.mit.edu	37	19	2247868	2247868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:2247868G>A	ENST00000221494.4	+	9	1136	c.718G>A	c.(718-720)Ggt>Agt	p.G240S		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	240	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		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)		GCTGATGAACGGTCTGCCCCC	0.706000													10	40					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976258	38976258	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:38976258C>T	ENST00000355481.4	+	34	5094	c.4963C>T	c.(4963-4965)Cgc>Tgc	p.R1655C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1655C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1655C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1655	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGTCGGAGCGCCTGGACCT	0.627000													22	74					0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150097909	150097909	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:150097909C>G	ENST00000447998.2	-	11	1115	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	DCTN4_ENST00000446090.2_Missense_Mutation_p.E341Q|DCTN4_ENST00000424236.1_Missense_Mutation_p.E277Q	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	334						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAGGTTCTCAACTGGATTT	0.483000													27	45					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108536327	108536327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:108536327C>T	ENST00000263054.6	-	4	857	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E284K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	284						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATCCAGTCTTCTTGTTTGGGG	0.413000													57	93					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3190831	3190831	+	Missense_Mutation	SNP	C	C	T	rs113065910		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:3190831C>T	ENST00000396878.3	+	6	1338	c.863C>T	c.(862-864)gCg>gTg	p.A288V	ZNF213_ENST00000416391.2_Missense_Mutation_p.A130V|ZNF213_ENST00000576416.1_Missense_Mutation_p.A288V|ZNF213_ENST00000574902.1_Missense_Mutation_p.A288V	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	288	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGGCCGAGGGCGGCCCTGGGC	0.746000													12	11					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6460620	6460620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:6460620C>T	ENST00000276893.5	+	4	860	c.692C>T	c.(691-693)cCa>cTa	p.P231L		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	231	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GATCTTAGACCACGAGCTAGA	0.368000													39	113					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471076	76471076	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:76471076G>A	ENST00000396423.2	+	8	1021	c.897G>A	c.(895-897)atG>atA	p.M299I	HNF4G_ENST00000354370.1_Missense_Mutation_p.M262I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	262					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTAAGAACATGAGGTTCCAAG	0.453000													36	71					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132890983	132890983	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:132890983C>T	ENST00000372406.1	+	19	2156	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	GPR107_ENST00000347136.6_Missense_Mutation_p.S502L|GPR107_ENST00000372410.3_Missense_Mutation_p.S521L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	550						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CGTCCGGCTTCAGATAACCCC	0.448000													66	213					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24663958	24663958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:24663958C>T	ENST00000530611.1	-	6	928	c.895G>A	c.(895-897)Gag>Aag	p.E299K	TM9SF1_ENST00000524835.1_Missense_Mutation_p.E3K|TM9SF1_ENST00000396854.4_Missense_Mutation_p.E90K|TM9SF1_ENST00000528669.1_Missense_Mutation_p.E90K|TM9SF1_ENST00000556387.1_Missense_Mutation_p.E299K|TM9SF1_ENST00000261789.4_Missense_Mutation_p.E90K			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	90					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TACAAAGACTCAGCCATTCGG	0.507000													174	297					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151896385	151896385	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:151896385G>C	ENST00000355193.2	-	27	4470	c.4252C>G	c.(4252-4254)Cca>Gca	p.P1418A	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1418A					lysine (K)-specific methyltransferase 2C																		GATTTTGTTGGAGCCGAGGAT	0.333000													21	58					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626472	140626472	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:140626472G>A	ENST00000231173.3	+	1	1326	c.1326G>A	c.(1324-1326)tcG>tcA	p.S442S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTGTCGGACGTCAATG	0.587000													45	77					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110438062	110438062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:110438062G>C	ENST00000375856.3	-	1	853	c.339C>G	c.(337-339)atC>atG	p.I113M		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	113	PH.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TGTAGAGGGCGATCAGGTACT	0.647000													7	18					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204176	9204176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:9204176C>T	ENST00000429566.3	+	1	322	c.256C>T	c.(256-258)Caa>Taa	p.Q86*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTGAGCCTTCAAACCGGGAG	0.537000													34	214					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828659	6828659	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:6828659C>G	ENST00000304076.2	+	12	1213	c.1119C>G	c.(1117-1119)gtC>gtG	p.V373V	VAV1_ENST00000599806.1_Silent_p.V318V|VAV1_ENST00000602142.1_Silent_p.V373V|VAV1_ENST00000596764.1_Silent_p.V341V|VAV1_ENST00000539284.1_Silent_p.V276V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	373	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGAACGAGGTCAAGCGAGACA	0.637000													35	306					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70840095	70840095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:70840095G>A	ENST00000322773.4	+	18	1465	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G77R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	455	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACATGAAGCTGGAGGCCTGAA	0.383000													5	55					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153785835	153785835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:153785835C>T	ENST00000368655.4	-	8	1553	c.1310G>A	c.(1309-1311)gGt>gAt	p.G437D		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	437	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGAATCTTACCATTCTTTTC	0.468000													41	103					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43030051	43030051	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:43030051C>T	ENST00000316099.3	+	1	128	c.39C>T	c.(37-39)gcC>gcT	p.A13A	HNF4A_ENST00000443598.2_Silent_p.A13A|HNF4A_ENST00000415691.1_Silent_p.A13A|HNF4A_ENST00000457232.1_Intron	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	13					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGGACATGGCCGACTACAGTG	0.637000													31	93					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18252811	18252811	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:18252811G>A	ENST00000262811.5	+	20	2238	c.2238G>A	c.(2236-2238)ctG>ctA	p.L746L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	746							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCGCCGGCTGAGTGCTGACA	0.597000													4	16					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27553552	27553552	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:27553552C>A	ENST00000544915.1	+	9	1122	c.903C>A	c.(901-903)aaC>aaA	p.N301K	ARNTL2_ENST00000261178.5_Missense_Mutation_p.N287K|ARNTL2_ENST00000266503.5_Missense_Mutation_p.N335K|ARNTL2_ENST00000311001.5_Missense_Mutation_p.N321K|ARNTL2_ENST00000395901.2_Missense_Mutation_p.N298K|ARNTL2_ENST00000542388.1_Missense_Mutation_p.N250K|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Missense_Mutation_p.N298K	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	335					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAGAAAGGAACAGTAAGAAAG	0.373000													3	99					0.004672	0.00474322	1	1	0
PPP1R21	129285	broad.mit.edu	37	2	48681851	48681851	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:48681851C>T	ENST00000294952.8	+	3	401	c.244C>T	c.(244-246)Cta>Tta	p.L82L	PPP1R21_ENST00000281394.4_Silent_p.L82L|PPP1R21_ENST00000449090.2_Silent_p.L82L	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	82										endometrium(2)|kidney(4)|lung(9)	15						TGAACTAGCTCTAAGTGAACC	0.428000													33	43					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46319745	46319745	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:46319745C>G	ENST00000245934.7	-	25	3593	c.3349G>C	c.(3349-3351)Gag>Cag	p.E1117Q	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1117					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCACCTCCTCCAAGGGCCCC	0.657000													9	28					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114193781	114193781	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:114193781G>A	ENST00000369615.1	+	14	2455	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	MAGI3_ENST00000369611.4_Missense_Mutation_p.R798Q|MAGI3_ENST00000369617.4_Missense_Mutation_p.R823Q|MAGI3_ENST00000307546.9_Missense_Mutation_p.R798Q	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	823	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGCTGCTCGAAATGGCCAT	0.433000													24	83					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320969	78320969	+	Missense_Mutation	SNP	G	G	A	rs76918558		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:78320969G>A	ENST00000582970.1	+	29	8977	c.8834G>A	c.(8833-8835)cGc>cAc	p.R2945H	RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H|RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGTGTAAGCGCCAGGACAAG	0.532000													6	17					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896476	24896476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:24896476G>C	ENST00000396432.2	-	11	3122	c.2636C>G	c.(2635-2637)tCa>tGa	p.S879*	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.S666*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	878					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATATGATTTTGATCTTTCTGT	0.383000													44	78					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71798596	71798596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:71798596G>A	ENST00000299980.4	-	8	1213	c.772C>T	c.(772-774)Cga>Tga	p.R258*	AP1G1_ENST00000569748.1_Nonsense_Mutation_p.R258*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.R281*|AP1G1_ENST00000423132.2_Nonsense_Mutation_p.R261*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.R261*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	258					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	p.R258*(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TCATCATTTCGTCCTAAAATT	0.328000													17	38					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874362	36874362	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:36874362C>A	ENST00000279024.4	-	2	441	c.170G>T	c.(169-171)cGc>cTc	p.R57L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	57										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCACACAGGCGCTTGGCAGG	0.587000													3	93					1	1	1	1	0
C9orf84	158401	broad.mit.edu	37	9	114454011	114454011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:114454011C>T	ENST00000394779.3	-	23	4181	c.3937G>A	c.(3937-3939)Gag>Aag	p.E1313K	C9orf84_ENST00000374287.3_Missense_Mutation_p.E1352K|C9orf84_ENST00000394777.4_Missense_Mutation_p.E1278K|C9orf84_ENST00000318737.4_Missense_Mutation_p.E1352K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1352										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAAAGTCTCATCTTTTGAA	0.348000													38	110					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29008329	29008329	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:29008329C>G	ENST00000282397.4	-	5	793	c.542G>C	c.(541-543)gGa>gCa	p.G181A	FLT1_ENST00000541932.1_Missense_Mutation_p.G181A|FLT1_ENST00000539099.1_Missense_Mutation_p.G181A	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	181	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TATGCGTTTTCCATCAGGGAT	0.428000													19	76					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166758288	166758288	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:166758288C>T	ENST00000243344.7	-	20	2838	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	901						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ATTGCTTTTTCATAGTCTCGC	0.368000													23	37					0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47797228	47797228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:47797228G>A	ENST00000240364.2	-	5	681	c.602C>T	c.(601-603)tCc>tTc	p.S201F	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	201										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CAAGACAGGGGACCCTGAGGG	0.587000													18	27					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28057782	28057782	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:28057782T>C	ENST00000263181.6	-	14	2668	c.2378A>G	c.(2377-2379)aAc>aGc	p.N793S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	793					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AATGTCTTTGTTATCATTTGG	0.318000													32	40					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191873691	191873691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:191873691G>A	ENST00000361099.3	-	4	658	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q91*|STAT1_ENST00000540176.1_Nonsense_Mutation_p.Q91*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q91*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q93*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	91					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GGTCATACCTGAAGATTACGC	0.368000													26	3					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18806740	18806740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:18806740C>T	ENST00000406451.3	+	16	2317	c.2167C>T	c.(2167-2169)Caa>Taa	p.Q723*	HDAC9_ENST00000441542.2_Nonsense_Mutation_p.Q726*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.Q723*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.Q682*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	723	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGATGACTCTCAAAAGTTTTT	0.264000													5	19					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6648997	6648997	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:6648997G>C	ENST00000377674.4	+	11	1950	c.1792G>C	c.(1792-1794)Gag>Cag	p.E598Q		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	598						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCACATGGAGATCCACGA	0.662000													37	112					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30098292	30098292	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:30098292G>C	ENST00000331968.5	-	11	1909	c.1680C>G	c.(1678-1680)atC>atG	p.I560M	PRKD1_ENST00000415220.2_Missense_Mutation_p.I568M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	560					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TACTCACAGAGATATCTCCTG	0.313000													29	37					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8618142	8618142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:8618142G>A	ENST00000382073.3	+	4	472	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	96	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					CATTTCCAGTGAAGAGAAGGT	0.423000													53	73					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189590	58189590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:58189590G>T	ENST00000318203.5	+	5	1316	c.619G>T	c.(619-621)Gaa>Taa	p.E207*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	207					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCGAGTAAATGAAAATATTAC	0.403000													32	70					4.2108e-06	4.32777e-06	1	1	0
HCCS	3052	broad.mit.edu	37	X	11135450	11135450	+	Missense_Mutation	SNP	G	G	C	rs144634482		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:11135450G>C	ENST00000321143.4	+	4	518	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	HCCS_ENST00000380762.4_Missense_Mutation_p.E106Q|HCCS_ENST00000380763.3_Missense_Mutation_p.E106Q	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	106					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TGTCAGAGAAGAGTCATCCAT	0.393000													72	172					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196871632	196871632	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:196871632C>A	ENST00000367416.2	+	2	277	c.140C>A	c.(139-141)gCa>gAa	p.A47E	CFHR4_ENST00000251424.4_Missense_Mutation_p.A48E|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CCAGCAGCTGCAGGACAATCT	0.368000													148	91					5.38354e-89	5.82051e-89	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167334107	167334107	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:167334107C>T	ENST00000409855.1	-	2	226	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	34					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCTTCTTCTTCATGGTCTTCA	0.388000													10	10					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110838797	110838797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:110838797G>A	ENST00000375820.4	-	26	1953	c.1832C>T	c.(1831-1833)gCt>gTt	p.A611V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	611	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATGGGACCAGCAGGACCATA	0.607000													69	75					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002413	3002413	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:3002413G>A	ENST00000381127.1	+	6	757	c.536G>A	c.(535-537)cGt>cAt	p.R179H	ARSF_ENST00000359361.2_Missense_Mutation_p.R179H|ARSF_ENST00000537104.1_Missense_Mutation_p.R179H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	179						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACCCCTCTCGTAACACGGAA	0.537000													52	113					0	0	1	0	0
SREK1IP1	285672	broad.mit.edu	37	5	64020228	64020228	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:64020228C>T	ENST00000513458.4	-	5	618	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	151					mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						CTGGAGAATTCAGAACTATTA	0.289000													14	27					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170052	20170052	+	RNA	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:20170052C>T	ENST00000338912.5	-	0	219																											GTGCTGCCATCACTAGGGCAC	0.552000													44	63					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15417101	15417101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:15417101C>G	ENST00000281513.5	-	43	5288	c.5263G>C	c.(5263-5265)Gat>Cat	p.D1755H	NBAS_ENST00000441750.1_Missense_Mutation_p.D1635H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1755										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTTCGTGATCAAAGCCACCA	0.443000													23	40					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981662	89981662	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:89981662G>A	ENST00000405460.2	+	29	6436	c.6340G>A	c.(6340-6342)Gat>Aat	p.D2114N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2114					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CATTGCCAATGATGATGCATT	0.428000													26	32					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40065914	40065914	+	Splice_Site	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:40065914C>T	ENST00000373233.3	-	27	4245	c.4068_splice	c.e27+1	p.T1356_splice		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1356					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGACTCACCGTTTGTTTCT	0.383000													25	117					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670618	99670618	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:99670618G>A	ENST00000336292.6	+	5	2170	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	SYNM_ENST00000560674.1_Missense_Mutation_p.E399K|SYNM_ENST00000328642.7_Missense_Mutation_p.E684K|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	685	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AACAAAGACTGAAATAGTTGT	0.443000													17	20					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14492748	14492748	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:14492748G>A	ENST00000344204.4	+	49	7729	c.7705G>A	c.(7705-7707)Gag>Aag	p.E2569K	TRIO_ENST00000537187.1_Missense_Mutation_p.E2393K|TRIO_ENST00000344135.5_Missense_Mutation_p.E68K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2569	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAGGAGGATGAGATCAACGT	0.532000													16	145					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170910	204170910	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:204170910G>A	ENST00000308302.3	-	3	332	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	49					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TCAGGCCAATGATGAGGGACA	0.592000													35	115					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36181999	36181999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:36181999G>T	ENST00000274255.6	+	10	1337	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Nonsense_Mutation_p.E167*|SKP2_ENST00000508514.1_Nonsense_Mutation_p.E174*	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	381					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGTTAAAGGAAGCCCTTCC	0.423000													86	360					9.61239e-26	1.01295e-25	1	1	0
NPPA	4878	broad.mit.edu	37	1	11907385	11907385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:11907385C>T	ENST00000376480.3	-	2	333	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.E29K|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	79					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGCACCTCAGGGAGGGGG	0.617000													34	101					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	102996211	102996211	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:102996211C>G	ENST00000435765.1	+	5	672	c.261C>G	c.(259-261)ctC>ctG	p.L87L	SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Silent_p.L87L|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGCAGACACTCCAGAGTGAAC	0.458000													21	35					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212180042	212180042	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:212180042A>G	ENST00000366994.3	-	7	922	c.818T>C	c.(817-819)aTt>aCt	p.I273T	INTS7_ENST00000366992.3_Missense_Mutation_p.I273T|INTS7_ENST00000440600.2_Missense_Mutation_p.I224T|INTS7_ENST00000366993.3_Missense_Mutation_p.I273T|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	273					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)		CAGATCTTGAATAGCAAGTCT	0.318000													37	111					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38812186	38812186	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:38812186A>G	ENST00000310301.4	-	13	1118	c.1064T>C	c.(1063-1065)gTa>gCa	p.V355A	VPS41_ENST00000395969.2_Missense_Mutation_p.V330A	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	355					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTGGCCACTACAACATCTCT	0.408000													25	53					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200619777	200619777	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:200619777G>C	ENST00000447706.2	-	5	1241	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	DDX59_ENST00000367348.3_Missense_Mutation_p.Q364E|DDX59_ENST00000331314.6_Missense_Mutation_p.Q364E			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	364	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACTTGTTGTTGAAAACCCATC	0.358000													16	77					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678915	38678915	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:38678915C>T	ENST00000267377.2	+	3	938	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	107					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATGAGCTGCTCATGCTCAGCG	0.577000													90	163					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347158	48347158	+	Silent	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:48347158G>T	ENST00000319856.4	+	1	687	c.666G>T	c.(664-666)ctG>ctT	p.L222L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCATTGGTCTGCTGGTGGTTG	0.502000													36	68					6.84511e-11	7.07895e-11	1	1	0
ZNF407	55628	broad.mit.edu	37	18	72346054	72346054	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:72346054C>G	ENST00000299687.5	+	1	3079	c.3079C>G	c.(3079-3081)Cac>Gac	p.H1027D	ZNF407_ENST00000582337.1_Missense_Mutation_p.H1027D|ZNF407_ENST00000577538.1_Missense_Mutation_p.H1027D|ZNF407_ENST00000309902.6_Missense_Mutation_p.H1027D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1027					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTTTAGTGCTCACTCCTCTGC	0.488000													59	92					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42734335	42734335	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:42734335C>T	ENST00000263805.4	-	7	3956	c.3630G>A	c.(3628-3630)gaG>gaA	p.E1210E	ZNF106_ENST00000565611.1_Silent_p.E395E|ZNF106_ENST00000565380.1_Silent_p.E438E	NM_022473.1	NP_071918.1			zinc finger protein 106																		CATTCACATTCTCATCTTGTT	0.463000													78	115					0	0	1	0	0
PEA15	8682	broad.mit.edu	37	1	160183267	160183267	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:160183267G>A	ENST00000368076.1	+	6	795	c.447G>A	c.(445-447)aaG>aaA	p.K149K	PEA15_ENST00000368077.1_Silent_p.K106K|PEA15_ENST00000360472.4_Silent_p.K128K|PEA15_ENST00000488858.1_3'UTR			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	128					anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCACCGAAGAAGGCCTGAG	0.577000													14	91					0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42461763	42461763	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:42461763C>T	ENST00000396398.3	-	6	1270	c.738G>A	c.(736-738)ggG>ggA	p.G246G	NAGA_ENST00000402937.1_Silent_p.G246G|NAGA_ENST00000403363.1_Silent_p.G246G	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	246					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CATTCCAGTGCCCAGGGCCGG	0.587000													14	48					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113519017	113519017	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:113519017G>A	ENST00000297405.5	-	29	5042	c.4798C>T	c.(4798-4800)Ctt>Ttt	p.L1600F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L1496F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1560F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1600F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1600	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGGTGAAAGAATAAAGCCT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	76					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53883984	53883984	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:53883984C>T	ENST00000467003.1	+	4	245	c.44C>T	c.(43-45)tCc>tTc	p.S15F	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.S51F|ZNF525_ENST00000600148.1_3'UTR					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						GGTATCTCTTCCAAATGCACA	0.363000													25	114					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060798	12060798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:12060798C>A	ENST00000482090.1	+	3	2323	c.1905C>A	c.(1903-1905)tgC>tgA	p.C635*	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Nonsense_Mutation_p.C653*|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTAAGGAATGCGAAAAAGCAT	0.408000													3	83					1	1	1	1	0
GPAM	57678	broad.mit.edu	37	10	113932772	113932772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:113932772G>A	ENST00000348367.4	-	8	810	c.613C>T	c.(613-615)Caa>Taa	p.Q205*	GPAM_ENST00000369425.1_Nonsense_Mutation_p.Q205*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.Q205*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	205					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTGTGAATTTGAATGTTCCAA	0.373000													25	54					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139278482	139278482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:139278482G>A	ENST00000298532.2	-	14	1791	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	475	HTH myb-type 3.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TTTGCCCAGTGACCTGCAAAA	0.552000													15	40					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31614087	31614087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:31614087G>A	ENST00000399332.1	-	16	3045	c.2557C>T	c.(2557-2559)Cgt>Tgt	p.R853C	HECTD1_ENST00000553700.1_Missense_Mutation_p.R853C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	853					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACTACTCCACGAGGCATGCTT	0.353000													23	28					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105105807	105105807	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:105105807C>T	ENST00000436393.2	+	21	3071	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	398					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGTGCTTCTCGTTTCAGCAG	0.423000										HNSCC(12;0.0054)			42	111					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71252799	71252799	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:71252799C>G	ENST00000395275.2	-	7	1135	c.747G>C	c.(745-747)ctG>ctC	p.L249L	CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000329008.5_Silent_p.L207L|CALN1_ENST00000431984.1_Silent_p.L207L|CALN1_ENST00000395276.2_Silent_p.L207L	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	207						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.L249L(1)|p.L207L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGCTGCAATCAGCATGACAC	0.592000													25	51					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21402267	21402267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:21402267C>T	ENST00000313654.9	+	20	2597	c.2356C>T	c.(2356-2358)Cgt>Tgt	p.R786C	LAMA3_ENST00000399516.3_Missense_Mutation_p.R786C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	786					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCTTGTTTCGTGTTATTCT	0.383000													33	59					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36889786	36889786	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:36889786G>A	ENST00000397224.4	-	8	1782	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	FOXRED2_ENST00000216187.6_Silent_p.I563I|FOXRED2_ENST00000366463.3_Silent_p.I115I|FOXRED2_ENST00000397223.4_Silent_p.I563I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	563					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTCTTCCACGATGTGATGGA	0.597000													4	82					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131087	72131087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:72131087G>A	ENST00000265381.4	-	2	1262	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	347					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.S347L(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GATGGCCAGCGAGATGGCATC	0.701000													32	76					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18631353	18631353	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:18631353C>A	ENST00000379989.3	+	16	2519	c.2234C>A	c.(2233-2235)tCt>tAt	p.S745Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.S745Y|CDKL5_ENST00000463994.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	745				Missing (in Ref. 4; CAA61445).	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAGAGCAGTTCTGGAACCAAC	0.363000													5	206					1	1	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1926709	1926709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:1926709C>A	ENST00000399161.2	-	10	1579	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E278*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	278					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCATGTTTTCTGAGAGCACA	0.423000													84	131					1.42748e-55	1.53835e-55	1	1	0
SON	6651	broad.mit.edu	37	21	34931547	34931547	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:34931547G>A	ENST00000356577.4	+	5	6808	c.6333G>A	c.(6331-6333)caG>caA	p.Q2111Q	SON_ENST00000300278.4_Silent_p.Q2111Q|SON_ENST00000290239.6_Silent_p.Q2111Q|SON_ENST00000381692.2_Silent_p.Q139Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2111					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATGTAAACAGATCGCACAGA	0.303000													23	61					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236180568	236180568	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:236180568C>G	ENST00000264187.6	-	10	2216	c.2134G>C	c.(2134-2136)Gat>Cat	p.D712H	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	712	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAACATTCATCAATATCTGCA	0.393000													47	103					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325316	31325316	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr18:31325316T>C	ENST00000269197.5	+	12	5504	c.5504T>C	c.(5503-5505)gTa>gCa	p.V1835A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTAGGACTGTAGGAGAACAC	0.478000													8	272					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78076243	78076243	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:78076243C>T	ENST00000264914.4	-	8	2115	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	527					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CCCCACACCCCAGTGGCCTTG	0.532000													41	63					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9416276	9416276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:9416276G>A	ENST00000378501.2	+	25	2573	c.2558G>A	c.(2557-2559)aGa>aAa	p.R853K	PLCB4_ENST00000334005.3_Missense_Mutation_p.R853K|PLCB4_ENST00000378473.3_Missense_Mutation_p.R865K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R853K|PLCB4_ENST00000414679.2_Missense_Mutation_p.R865K|PLCB4_ENST00000378493.1_Missense_Mutation_p.R853K|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	853					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACCAAATGAGAGCTATGGGC	0.368000													28	79					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25470388	25470388	+	RNA	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:25470388G>A	ENST00000453082.2	+	0	1061				SNORD115-30_ENST00000364117.1_RNA	NR_003343.1																						CTGAAGAGAGGTGATTATTTA	0.498000													71	133					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101587457	101587457	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:101587457C>T	ENST00000536262.2	-	5	1196	c.638G>A	c.(637-639)gGa>gAa	p.G213E		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	213					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTGCTGATTCCACCTTGCAT	0.398000													73	89					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241834961	241834961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr2:241834961G>A	ENST00000388934.4	-	1	612	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	152										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGGTCCTTGAGGACACACAGG	0.607000													6	14					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14040932	14040932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:14040932G>A	ENST00000318003.7	+	27	2993	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E917K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	918					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GTTCTACACGGAGGCTGCCCG	0.687000													8	21					0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109197402	109197402	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:109197402G>T	ENST00000370032.5	-	5	754	c.334C>A	c.(334-336)Cat>Aat	p.H112N	HENMT1_ENST00000370031.1_Missense_Mutation_p.H112N|HENMT1_ENST00000402983.1_Missense_Mutation_p.H112N|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	112					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						ACGGAGCCATGATACAATGTG	0.383000													10	62					0.00010058	0.00010274	1	1	0
ADRBK2	157	broad.mit.edu	37	22	26083563	26083563	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:26083563T>A	ENST00000324198.5	+	11	1078	c.886T>A	c.(886-888)Ttt>Att	p.F296I		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	296	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GGAGATGCGGTTTTATGCCAC	0.428000													22	39					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52425293	52425293	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:52425293G>C	ENST00000420323.2	+	62	10101	c.9840G>C	c.(9838-9840)gaG>gaC	p.E3280D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3345	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCTCCTGGAGAACGTGGGCG	0.607000													7	17					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83361414	83361414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:83361414G>A	ENST00000262752.2	-	15	1331	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R442*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	442	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGTATGCATCGCTTGCAAACA	0.348000													10	34					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178505983	178505983	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:178505983G>C	ENST00000315475.6	+	5	856	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TGTTCCTATAGAAAGGATACC	0.353000													32	69					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28644217	28644217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr17:28644217G>C	ENST00000328886.4	-	6	851	c.779C>G	c.(778-780)aCa>aGa	p.T260R	TMIGD1_ENST00000538566.2_3'UTR	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	260						integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTACAGAGCTGTTTCACTGTG	0.423000													31	75					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47071407	47071407	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr22:47071407G>A	ENST00000406902.1	+	17	1734	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	GRAMD4_ENST00000408031.1_Silent_p.R30R|GRAMD4_ENST00000361034.3_Silent_p.R507R			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	507	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCTCAAAGAGGAACAAAGTCA	0.552000													76	109					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484663	484663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:484663C>T	ENST00000264938.3	-	5	913	c.904G>A	c.(904-906)Gag>Aag	p.E302K	SLC9A3_ENST00000514375.1_Missense_Mutation_p.E302K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	302						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GACAGCATCTCGGACGTCAGG	0.632000													18	117					0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109480484	109480484	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:109480484C>T	ENST00000407272.1	+	11	1412	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000368968.2_Missense_Mutation_p.R279C|CEP57L1_ENST00000517392.1_Missense_Mutation_p.R279C|CEP57L1_ENST00000523787.1_Missense_Mutation_p.R282C|CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000368970.2_Missense_Mutation_p.R296C|CEP57L1_ENST00000521522.1_Intron|CEP57L1_ENST00000359793.3_Missense_Mutation_p.R279C	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	279						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GAGGCAACATCGTGACCCACA	0.403000													47	108					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87538628	87538628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:87538628G>A	ENST00000370550.5	+	2	499	c.136G>A	c.(136-138)Gca>Aca	p.A46T	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.A20T|HS2ST1_ENST00000356813.4_Missense_Mutation_p.A20T|HS2ST1_ENST00000370551.4_Missense_Mutation_p.A46T	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	46						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AAGGGCTATTGCAAGACACGA	0.398000													14	42					0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88231424	88231424	+	Silent	SNP	C	C	T	rs113762141	byFrequency	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:88231424C>T	ENST00000328546.4	-	6	847	c.783G>A	c.(781-783)tcG>tcA	p.S261S	HSD17B13_ENST00000302219.6_Silent_p.S225S	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	261						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TATTGATATACGATGGAACAA	0.308000													31	79					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616452	248616452	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:248616452C>T	ENST00000342927.3	+	1	376	c.354C>T	c.(352-354)ctC>ctT	p.L118L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGGGTCTCATGGCCTATG	0.547000													19	246					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7268021	7268021	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:7268021G>A	ENST00000217961.4	+	10	1691	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	491					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTTCTGTTTCGGGAGTTATGT	0.507000									Ichthyosis				55	142					0	0	1	0	0
STRAP	11171	broad.mit.edu	37	12	16052888	16052888	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:16052888G>C	ENST00000419869.2	+	8	1139	c.826G>C	c.(826-828)Gat>Cat	p.D276H	STRAP_ENST00000538352.1_Missense_Mutation_p.D182H|STRAP_ENST00000025399.6_Missense_Mutation_p.D289H	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	276					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				ATTTAGTCCTGATGGAGAACT	0.393000													45	76					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880818	121880818	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:121880818C>T	ENST00000377069.4	-	17	2780	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	KDM2B_ENST00000377071.4_Missense_Mutation_p.E861K|KDM2B_ENST00000542973.1_Missense_Mutation_p.E229K|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	861					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCTTATCTTCTTTGCCAGGT	0.592000													15	15					0	0	1	0	0
ACP5	54	broad.mit.edu	37	19	11687634	11687634	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:11687634C>G	ENST00000592828.1	-	5	688	c.286G>C	c.(286-288)Gac>Cac	p.D96H	ACP5_ENST00000218758.5_Missense_Mutation_p.D96H|ACP5_ENST00000433365.2_Missense_Mutation_p.D96H|ACP5_ENST00000412435.2_Missense_Mutation_p.D96H|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	96					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AGGGAGCGGTCAGAGAATACG	0.547000													36	108					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1808852	1808852	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:1808852G>C	ENST00000340107.4	+	18	2546	c.2290G>C	c.(2290-2292)Gac>Cac	p.D764H	FGFR3_ENST00000352904.1_Missense_Mutation_p.D650H|FGFR3_ENST00000440486.2_Missense_Mutation_p.D762H|FGFR3_ENST00000260795.2_Missense_Mutation_p.D762H|FGFR3_ENST00000412135.2_Missense_Mutation_p.D650H|FGFR3_ENST00000481110.2_Missense_Mutation_p.G739A	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	762					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGAGTACCTGGACCTGTCGGC	0.701000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				3	8					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114453064	114453064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:114453064G>A	ENST00000375478.3	-	3	956	c.776C>T	c.(775-777)tCt>tTt	p.S259F	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CTTGTTCTTAGAATACATGTG	0.398000													40	56					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48137435	48137435	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:48137435T>G	ENST00000405493.2	-	18	1786	c.1577A>C	c.(1576-1578)gAc>gCc	p.D526A	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D526A|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D526A|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D568A|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.D568A	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	526					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CACTGAGTGGTCTGGCCGGCA	0.627000													15	26					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142813	49142813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:49142813C>T	ENST00000055335.6	+	4	1677	c.1661C>T	c.(1660-1662)aCg>aTg	p.T554M	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	554						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGAGATCACGCTGCACTAT	0.647000													16	39					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136518063	136518063	+	Splice_Site	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:136518063G>A	ENST00000393056.2	+	9	1388	c.1374_splice	c.e9-1	p.G459_splice		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	459					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TTTCCTCAGGGAGATGTGCTC	0.632000													30	61					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21829239	21829239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:21829239C>T	ENST00000216297.2	-	16	2265	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	643					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGCTCACCTCCTTCTCTTTC	0.368000													60	120					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100192968	100192968	+	Splice_Site	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr13:100192968G>C	ENST00000376387.4	+	8	1019	c.828_splice	c.e8-1	p.E277_splice		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	277					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TCTCCTCTAGGAAGATGATAA	0.388000													46	69					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108536300	108536300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr10:108536300C>T	ENST00000263054.6	-	4	884	c.877G>A	c.(877-879)Gac>Aac	p.D293N	SORCS1_ENST00000344440.6_Missense_Mutation_p.D293N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	293						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCTTTTGGTCTTGACTGTAT	0.413000													7	153					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19702076	19702076	+	Silent	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:19702076G>A	ENST00000397821.3	-	6	881	c.591C>T	c.(589-591)aaC>aaT	p.N197N	SH3KBP1_ENST00000379697.3_Silent_p.N241N|SH3KBP1_ENST00000379698.4_Silent_p.N160N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	197					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCACTGTCCCGTTGGCACCTT	0.507000													65	167					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271506	164271506	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:164271506C>T	ENST00000515560.1	+	4	1603	c.81C>T	c.(79-81)ttC>ttT	p.F27F	NPY5R_ENST00000338566.3_Silent_p.F27F|NPY5R_ENST00000506953.1_Silent_p.F27F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	27					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.F27F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTCTGATTTCCCAGTCTGGG	0.393000													41	69					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138840005	138840005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:138840005G>A	ENST00000370557.1	-	23	3680	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	ATP11C_ENST00000327569.3_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.Q891*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.Q891*			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	891					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TACAAAAACTGTGGCAAAATG	0.289000													13	33					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119338003	119338003	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:119338003G>A	ENST00000338891.7	-	5	1882	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	FAM184A_ENST00000352896.5_Missense_Mutation_p.S360F|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.S360F|FAM184A_ENST00000522284.1_Missense_Mutation_p.S360F|FAM184A_ENST00000521531.1_Missense_Mutation_p.S480F	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	480										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAAAGTCTTAGAATGGGCCTC	0.378000													47	113					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56073693	56073693	+	Silent	SNP	G	G	A	rs141206026	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr20:56073693G>A	ENST00000429804.2	-	10	2315	c.1755C>T	c.(1753-1755)gtC>gtT	p.V585V	CTCFL_ENST00000243914.3_Silent_p.V635V|CTCFL_ENST00000423479.2_Silent_p.V635V|CTCFL_ENST00000371196.2_Silent_p.V635V	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	635					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCTGCAGGCGACAGGAAACA	0.502000													37	101					0	0	1	0	0
NPIPA1	9284	broad.mit.edu	37	16	15045778	15045778	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:15045778C>T	ENST00000328085.6	+	8	949	c.949C>T	c.(949-951)Cca>Tca	p.P317S	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1																		CACTCCCCTTCCACCCTCAGC	0.532000													4	63					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74414719	74414719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:74414719C>T	ENST00000263665.6	-	8	1108	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	361	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTTACCTCTAGCACCAGG	0.498000													119	328					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110401306	110401306	+	Splice_Site	SNP	A	A	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:110401306A>T	ENST00000378402.5	+	8	727		c.e8-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTTTTAATTAGATATGGTCT	0.294000										HNSCC(38;0.096)			43	94					0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249462	119249462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:119249462C>T	ENST00000217999.2	-	1	385	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	104					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GCGCCGAGTTCGTGGCTGCAT	0.652000													31	101					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148897378	148897378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:148897378G>A	ENST00000264613.6	-	15	2888	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	876	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAAGCCCATGGAATACAAGCA	0.373000													57	34					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230386252	230386252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:230386252G>A	ENST00000366672.4	+	10	1027	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	GALNT2_ENST00000543760.1_Missense_Mutation_p.E281K|GALNT2_ENST00000541865.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	319	Catalytic subdomain B.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTTCTATTTTGAAGAACTGGG	0.493000													19	53					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145851051	145851051	+	Splice_Site	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:145851051G>A	ENST00000296702.5	+	9	1551	c.1512_splice	c.e9-1	p.E505_splice	TCERG1_ENST00000394421.2_Splice_Site_p.E484_splice	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	505	Glu-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCTTGTAGGAGCCCAAAGA	0.403000													42	69					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78131061	78131061	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:78131061C>T	ENST00000354212.4	-	5	1051	c.798G>A	c.(796-798)gaG>gaA	p.E266E	MAGI2_ENST00000536571.1_Silent_p.E98E|MAGI2_ENST00000419488.1_Silent_p.E266E|MAGI2_ENST00000522391.1_Silent_p.E266E|MAGI2_ENST00000535697.1_Silent_p.E103E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	266	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGAGGGCATCTCCCCTGAGG	0.498000													38	73					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2773149	2773149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:2773149C>T	ENST00000381163.3	+	6	815	c.533C>T	c.(532-534)aCg>aTg	p.T178M	GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Missense_Mutation_p.T178M|GYG2_ENST00000542787.1_Missense_Mutation_p.T178M|GYG2_ENST00000398806.3_Missense_Mutation_p.T147M	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	178					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTCTCCACACGCATAAACTC	0.572000													54	160					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169504251	169504251	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:169504251G>C	ENST00000349841.5	+	8	2281	c.1618G>C	c.(1618-1620)Gaa>Caa	p.E540Q	MYNN_ENST00000356716.4_Missense_Mutation_p.E540Q|MYNN_ENST00000544106.1_Missense_Mutation_p.E511Q	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	540						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TACTTTGAGTGAACAGGATTC	0.373000													59	148					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100859192	100859192	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:100859192C>G	ENST00000223127.3	-	5	1010	c.612G>C	c.(610-612)ctG>ctC	p.L204L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	204					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCCTACCCTCAGTCCTGGGT	0.582000													13	64					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89730647	89730647	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:89730647G>C	ENST00000343435.5	-	8	1407	c.871C>G	c.(871-873)Cta>Gta	p.L291V	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.L291V	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	291						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AGGTTCTTTAGACCTTCATGG	0.418000													35	72					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115805246	115805246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:115805246C>T	ENST00000490035.1	-	2	812	c.313G>A	c.(313-315)Gat>Aat	p.D105N	LSAMP_ENST00000539563.1_Missense_Mutation_p.D102N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	105	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAACCCTCATCATAGACATCC	0.498000													35	67					0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	7998423	7998423	+	Missense_Mutation	SNP	G	G	A	rs41539862		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:7998423G>A	ENST00000270538.3	-	7	984	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	239					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTACCACTTGGAGTCCTTGTG	0.647000													134	373					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51612959	51612959	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:51612959T>G	ENST00000371117.3	-	58	9730	c.9455A>C	c.(9454-9456)aAc>aCc	p.N3152T	PKHD1_ENST00000340994.4_Missense_Mutation_p.N3152T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3152					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAGTCAAAGTTCTTGAAAGC	0.418000													9	412					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27024254	27024254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:27024254C>T	ENST00000382009.3	+	13	2429	c.2162C>T	c.(2161-2163)tCa>tTa	p.S721L	STIM2_ENST00000465503.1_Missense_Mutation_p.S634L|STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000467087.1_Missense_Mutation_p.S626L|STIM2_ENST00000237364.5_Missense_Mutation_p.S713L	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	626					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CGAAAGATATCAAGAGATGAG	0.468000													49	76					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76465281	76465281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:76465281C>T	ENST00000396423.2	+	5	588	c.464C>T	c.(463-465)tCa>tTa	p.S155L	HNF4G_ENST00000354370.1_Missense_Mutation_p.S118L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	118					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TACTAGATCTCAGTCTCAAGC	0.348000													25	63					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15525004	15525004	+	Splice_Site	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:15525004G>A	ENST00000344577.2	-	8	1096	c.1069_splice	c.e8-1	p.T357_splice	LIPI_ENST00000536861.1_Splice_Site_p.T336_splice	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	336					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CAAAATAATAGGCTACAAAAT	0.249000													9	22					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103130201	103130201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:103130201C>T	ENST00000424685.2	-	60	9910	c.9751G>A	c.(9751-9753)Gag>Aag	p.E3251K	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.E3251K|RELN_ENST00000428762.1_Missense_Mutation_p.E3251K			P78509	RELN_HUMAN	reelin	3251	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGAAGCTCTCGTCGCAGATG	0.522000													10	33					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79423682	79423682	+	Silent	SNP	C	C	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr14:79423682C>T	ENST00000554719.1	+	8	1745	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	NRXN3_ENST00000335750.5_Silent_p.T418T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	188					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTAAGTTAACCGTGGATGATG	0.493000													24	67					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103389927	103389927	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr7:103389927A>G	ENST00000428762.1	-	6	761	c.602T>C	c.(601-603)aTc>aCc	p.I201T	RELN_ENST00000343529.5_Missense_Mutation_p.I201T|RELN_ENST00000424685.2_Missense_Mutation_p.I201T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	201					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCTCTCAGGATAATGCTGTC	0.343000													105	78					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124934366	124934366	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:124934366G>C	ENST00000356219.3	-	8	965	c.810C>G	c.(808-810)atC>atG	p.I270M	NCOR2_ENST00000404621.1_Missense_Mutation_p.I270M|NCOR2_ENST00000405201.1_Missense_Mutation_p.I270M|NCOR2_ENST00000429285.2_Missense_Mutation_p.I270M|NCOR2_ENST00000397355.1_Missense_Mutation_p.I270M|NCOR2_ENST00000404121.2_De_novo_Start_InFrame	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	270	Interaction with SIN3A/B (By similarity).				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCACATTTTGATGTTCTCAT	0.612000													17	31					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74807074	74807074	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:74807074C>G	ENST00000380494.5	-	2	636	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	COL4A3BP_ENST00000261415.7_5'UTR|COL4A3BP_ENST00000405807.4_5'UTR	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	0	PH.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	p.E115K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CCCGCTCCCTCAGCTGCGCCG	0.687000													6	6					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8606807	8606807	+	Silent	SNP	C	C	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:8606807C>G	ENST00000338257.8	-	15	1860	c.1593G>C	c.(1591-1593)ctG>ctC	p.L531L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	531	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGTCTGCATCAGCTCTATGA	0.622000													27	78					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047490	73047490	+	RNA	SNP	A	A	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:73047490A>G	ENST00000604411.1	+	0	35451				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATCACAGTTCACAAAGAGAAA	0.398000													8	19					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27277965	27277965	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:27277965G>A	ENST00000320567.5	-	2	995	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	303										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTACTAATGCGAATGATGCCG	0.607000													25	48					0	0	1	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13474787	13474788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr1:13474787_13474788insG	ENST00000376126.2	-	3	1340_1341	c.1341_1342insC	c.(1339-1344)ccacagfs	p.Q448fs		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	448										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGATCCTGTTGGGCTCCCTTA	0.564													5	9	---	---	---	---					
OR5H1	26341	broad.mit.edu	37	3	97851704	97851706	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr3:97851704_97851706delCTT	ENST00000354565.2	+	1	163_165	c.163_165delCTT	c.(163-165)del	p.L55del	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGACCCTCACCTTCATATCCCAA	0.424													7	206	---	---	---	---					
ZNF876P	642280	broad.mit.edu	37	4	212236	212236	+	RNA	DEL	A	A	-	rs80061878		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr4:212236delA	ENST00000356347.3	+	0	172					NR_027481.1																						ctaaaaatacaaaaaaaaaaa	0.493													2	4	---	---	---	---					
LOC100505625	100505625	broad.mit.edu	37	5	6691009	6691012	+	RNA	DEL	CACA	CACA	-	rs71859324		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr5:6691009_6691012delCACA	ENST00000503989.1	-	0	2756					NR_103771.1																						AAAGAAacaccacacacacacaca	0.471													2	4	---	---	---	---					
MICAL1	64780	broad.mit.edu	37	6	109769587	109769587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr6:109769587delT	ENST00000368952.4	-	13	2021	c.1731delA	c.(1729-1731)tcfs	p.S577fs	MICAL1_ENST00000358807.3_Frame_Shift_Del_p.S558fs|MICAL1_ENST00000358577.3_Frame_Shift_Del_p.S472fs			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	558	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCTGCAGCTCTGAGGGTTCCC	0.607													86	191	---	---	---	---					
C8orf33	65265	broad.mit.edu	37	8	146278237	146278238	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr8:146278237_146278238insA	ENST00000331434.6	+	2	386_387	c.272_273insA	c.(271-273)tgafs	p.*91fs		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	91										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GAGAAGGCCTCAGAGAAACTCG	0.594													18	51	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													6	10	---	---	---	---					
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	RNA	DEL	A	A	-			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373													2	4	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89409584	89409584	+	RNA	DEL	T	T	-			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:89409584delT	ENST00000532352.1	+	0	1261							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						cttttcttacttttttttttt	0.343													2	4	---	---	---	---					
BARX2	8538	broad.mit.edu	37	11	129306804	129306805	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr11:129306804_129306805insT	ENST00000281437.4	+	2	442_443	c.346_347insT	c.(346-348)agcfs	p.S116fs	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	116										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGGCGAGGCCCTAGCCAGCAGC	0.688													13	42	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	p.P173fs	PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.500													36	52	---	---	---	---					
CHRM5	1133	broad.mit.edu	37	15	34355774	34355775	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:34355774_34355775insA	ENST00000383263.5	+	3	1526_1527	c.856_857insA	c.(856-858)agcfs	p.S286fs	CHRM5_ENST00000557872.1_Frame_Shift_Ins_p.S286fs	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	286					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GAAGCCATCCCAAGCCACTGGC	0.639													9	121	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34376648	34376663	+	Frame_Shift_Del	DEL	CATGGTTGGAATTCAG	CATGGTTGGAATTCAG	-			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr15:34376648_34376663delCATGGTTGGAATTCAG	ENST00000256545.4	-	5	709_724	c.601_616delCTGAATTCCAACCATG	c.(601-618)agfs	p.LNSNHE201fs		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		TCAGGCAACTCATGGTTGGAATTCAGCATATTCATT	0.421													21	105	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74378975	74378976	+	RNA	INS	-	-	TTT	rs35591542		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr16:74378975_74378976insTTT	ENST00000429810.2	-	0	1086																											AACCTCTTGAAttttttttttt	0.421													2	4	---	---	---	---					
C5AR1	728	broad.mit.edu	37	19	47823353	47823354	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr19:47823353_47823354insC	ENST00000355085.3	+	2	341_342	c.319_320insC	c.(319-321)cgcfs	p.R107fs		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	107					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTTTGGCGGGGCCGCCTGCAGC	0.604													7	116	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11093134	11093135	+	RNA	INS	-	-	C	rs141935972		TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chr21:11093134_11093135insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTCTCCCCTACCCCCCACAAC	0.401													2	4	---	---	---	---					
CXCR3	2833	broad.mit.edu	37	X	70836869	70836870	+	Frame_Shift_Ins	INS	-	-	AGGT			TCGA-CV-5442-01A-01D-1512-08	TCGA-CV-5442-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d42594f-c1f4-45ed-8bd2-7701f914d33c	7483ff71-6673-41d5-814c-f4657603964c	g.chrX:70836869_70836870insAGGT	ENST00000373691.4	-	2	756_757	c.593_594insACCT	c.(592-594)caafs	p.Q198fs	CXCR3_ENST00000373693.3_Frame_Shift_Ins_p.Q151fs	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	151					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GAACTATGTTCAGGTAGCGGTC	0.634													10	39	---	---	---	---