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
SLC34A3	142680	broad.mit.edu	37	9	140130637	140130637	+	Silent	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140130637G>T	ENST00000538474.1	+	13	1793	c.1569G>T	c.(1567-1569)ggG>ggT	p.G523G	SLC34A3_ENST00000361134.2_Silent_p.G523G	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	523					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCCTGGTGGGGCTGGTGCTCC	0.726000											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	76					1	1	1	1	0
GIPC3	126326	broad.mit.edu	37	19	3590165	3590165	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:3590165G>A	ENST00000322315.5	+	6	961	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	306										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCATCGGCGAGGCCAGAGA	0.692000													3	42					0	0	1	0	0
MINPP1	0	broad.mit.edu	37	10	89264991	89264991	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:89264991G>T	ENST00000371996.4	+	1	360	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W	MINPP1_ENST00000371994.4_Missense_Mutation_p.G107W	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	107					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GCAGCTGCACGGGTTGCTGCA	0.697000											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	71					0.00909568	0.0101999	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													6	121					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570188	25570188	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:25570188C>T	ENST00000269141.3	-	10	1894	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	491	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.V491I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468000													147	175					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654852	61654852	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:61654852G>A	ENST00000423902.2	+	2	1340	c.861G>A	c.(859-861)ccG>ccA	p.P287P	CHD7_ENST00000524602.1_Silent_p.P287P|CHD7_ENST00000525508.1_Silent_p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.P287P(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGTTAGGCCGCAAACCCTTA	0.512000													6	625					0	0	1	0	0
GPSM1	26086	broad.mit.edu	37	9	139228944	139228944	+	Missense_Mutation	SNP	C	C	T	rs140085951		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139228944C>T	ENST00000440944.1	+	2	329	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	37	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGAGGGCGAGCGTCTGTGCAA	0.652000													24	99					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122728764	122728764	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:122728764T>C	ENST00000512454.1	+	5	760	c.544T>C	c.(544-546)Ttt>Ctt	p.F182L	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.F198L|EXOSC9_ENST00000379663.3_Missense_Mutation_p.F198L			Q06265	EXOS9_HUMAN	exosome component 9	198	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CAGTTTTGCCTTTTTCCAGCA	0.358000													5	418					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210017	100210017	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:100210017G>A	ENST00000317233.4	-	14	2341	c.2106C>T	c.(2104-2106)tcC>tcT	p.S702S	AFF3_ENST00000356421.2_Silent_p.S727S|AFF3_ENST00000409579.1_Silent_p.S727S|AFF3_ENST00000409236.1_Silent_p.S702S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	702					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCATTCCCGGAGGAGGCAG	0.627000													6	612					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833536	176833536	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:176833536C>T	ENST00000367654.2	-	23	3806	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K			O14525	ASTN1_HUMAN	astrotactin 1	1265					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTTGATCTCGCTGTAGCGG	0.587000													92	592					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45782784	45782784	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:45782784G>T	ENST00000357450.4	-	11	1873	c.1874C>A	c.(1873-1875)gCa>gAa	p.A625E	SMC1B_ENST00000404354.3_Missense_Mutation_p.A625E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	625	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATATGCCTTGCTTCTTCCAT	0.383000													5	604					0.217242	0.233187	1	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38572845	38572845	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:38572845C>T	ENST00000222345.6	+	3	1149	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	214					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAGGGCATGCCCGAGCAGAG	0.726000													5	367					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219330731	219330731	+	Splice_Site	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:219330731A>T	ENST00000258399.3	-	21	2879		c.e21+1		USP37_ENST00000418019.1_Splice_Site|USP37_ENST00000454775.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AATATCTCTTACTTGCTCTTG	0.403000													6	736					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52664502	52664502	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:52664502C>T	ENST00000399231.3	-	21	2879	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H	MYO5A_ENST00000356338.6_Missense_Mutation_p.R879H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R879H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R879H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R879H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	879	IQ 5.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTAGTGTGTGCGGGCCAGCCA	0.532000													5	317					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13039467	13039467	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:13039467G>A	ENST00000588025.1	-	7	867	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	FARSA_ENST00000423140.2_Missense_Mutation_p.R172W|FARSA_ENST00000314606.4_Missense_Mutation_p.R203W			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	203					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.R203W(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GGCCGGTCCCGCCAAGAGCCA	0.687000													4	93					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175331844	175331844	+	Missense_Mutation	SNP	G	G	A	rs150401432		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:175331844G>A	ENST00000367674.1	-	14	3517	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	TNR_ENST00000263525.2_Missense_Mutation_p.R937W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	937	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R937W(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCCTGCCCCGCACGCTGTTG	0.552000													6	567					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39740094	39740094	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:39740094C>T	ENST00000167586.6	-	4	931	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	282	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTTCAGAATGCGGCTCAGGTC	0.562000													6	1119					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:37431050G>C	ENST00000374660.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408000													5	613					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42225981	42225981	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:42225981G>A	ENST00000319977.4	+	3	1047	c.810G>A	c.(808-810)ccG>ccA	p.P270P	C17orf53_ENST00000245382.6_Silent_p.P270P|C17orf53_ENST00000585683.1_Silent_p.P270P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	270								p.P270P(2)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAGTCTGTCCGCAACGCTCCC	0.562000													5	769					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43580820	43580820	+	RNA	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:43580820G>A	ENST00000253803.2	+	0	195																											cctggggaccgtggggctgca	0.572000													4	197					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33382134	33382134	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:33382134C>A	ENST00000374516.3	+	9	1138	c.867C>A	c.(865-867)ctC>ctA	p.L289L	PHF1_ENST00000374512.3_Silent_p.L289L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	289					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACAGTTTGCTCCTGGGGGAGG	0.498000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	139	259					4.13896e-67	5.00956e-67	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73233816	73233816	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:73233816G>A	ENST00000377110.2	-	16	2532	c.2289C>T	c.(2287-2289)ggC>ggT	p.G763G	TRPM3_ENST00000360823.2_Silent_p.G625G|TRPM3_ENST00000423814.3_Silent_p.G790G|TRPM3_ENST00000396292.4_Silent_p.G635G|TRPM3_ENST00000357533.2_Silent_p.G767G|TRPM3_ENST00000377105.1_Silent_p.G622G|TRPM3_ENST00000358082.3_Silent_p.G625G|TRPM3_ENST00000377106.1_Silent_p.G635G|TRPM3_ENST00000408909.2_Silent_p.G622G|TRPM3_ENST00000396280.5_Silent_p.G612G|TRPM3_ENST00000377111.2_Silent_p.G763G|TRPM3_ENST00000396285.1_Silent_p.G610G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	788						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGCGGAGCCGGCCCATCCACA	0.637000													4	284					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612000													6	674					0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	155771526	155771526	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:155771526C>T	ENST00000435422.3	+	2	515	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	SGCD_ENST00000517913.1_Missense_Mutation_p.R11W|SGCD_ENST00000337851.4_Missense_Mutation_p.R11W|SGCD_ENST00000447401.1_Missense_Mutation_p.R11W	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	10					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCACCACCGGAGCACCAT	0.478000													83	230					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													8	293					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15567402	15567402	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:15567402G>A	ENST00000343625.6	-	10	1567	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V	RASAL3_ENST00000595098.1_5'UTR	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	496	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAACAGCAGCGCCTCACGGCC	0.617000													42	106					0	0	1	0	0
IGHG4	0	broad.mit.edu	37	14	106092333	106092333	+	RNA	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:106092333G>C	ENST00000390543.2	-	0	70																											GCAGCCCAGGGCGGCTGTGCT	0.672000													4	207					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276588	186276588	+	Silent	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:186276588T>C	ENST00000445192.2	+	7	1782	c.1737T>C	c.(1735-1737)acT>acC	p.T579T	PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367486.3_Silent_p.T536T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	579	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T579T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCCCCAACTACCCCCAAGG	0.647000													28	503					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297887	62297887	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:62297887C>T	ENST00000378024.4	-	5	4276	c.4002G>A	c.(4000-4002)ggG>ggA	p.G1334G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1334					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATTTTGGCCCCTTAAGAT	0.493000													8	1296					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													6	294					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246544	56246544	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:56246544A>T	ENST00000361673.3	-	4	1677	c.1464T>A	c.(1462-1464)gaT>gaA	p.D488E		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	488							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACTGATTCATCCATGTTGA	0.493000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	169	223					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145660399	145660399	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:145660399C>T	ENST00000409379.3	-	19	3036		c.e19+1			NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein						cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTGCGGCTCACCTCGTCATTG	0.697000													31	80					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12858610	12858610	+	Silent	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:12858610T>G	ENST00000155926.4	+	1	1596	c.177T>G	c.(175-177)tcT>tcG	p.S59S	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000405331.3_Silent_p.S59S	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	59					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATTGCGTTTCTTGTATCGGGA	0.567000											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	143	367					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66948290	66948290	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:66948290C>A	ENST00000299752.4	-	7	802	c.609G>T	c.(607-609)ctG>ctT	p.L203L	CDH16_ENST00000570262.1_Silent_p.L123L|CDH16_ENST00000565796.1_Silent_p.L203L|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000394055.3_Silent_p.L203L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGTCCTCTCCAGGGCGTGGT	0.607000													5	207					0.000602214	0.000690775	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141050146	141050146	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:141050146G>A	ENST00000239440.4	-	14	2105	c.2040C>T	c.(2038-2040)agC>agT	p.S680S	ARAP3_ENST00000513878.1_Silent_p.S342S|ARAP3_ENST00000508305.1_Silent_p.S582S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	680					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACAGGAAGCCGCTGTAAGTAG	0.607000													5	328					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180328309	180328309	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:180328309A>G	ENST00000296015.4	+	12	2424	c.2292A>G	c.(2290-2292)aaA>aaG	p.K764K	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	764							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAAAGAAAAAGGAAATAAGT	0.303000													5	649					0	0	1	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98788032	98788032	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:98788032C>T	ENST00000445593.2	+	1	748	c.68C>T	c.(67-69)gCg>gTg	p.A23V	LAPTM4B_ENST00000521545.2_5'UTR	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	76					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GCCGCTGCAGCGGTCGCCTTC	0.741000													3	35					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27601854	27601854	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27601854C>A	ENST00000323703.6	-	3	477	c.279G>T	c.(277-279)cgG>cgT	p.R93R	ZNF513_ENST00000407879.1_Silent_p.R31R|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	93	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTTAGTGCCCGGCCGCCCC	0.647000													4	171					0.00909568	0.0101999	1	1	0
DAP3	7818	broad.mit.edu	37	1	155686900	155686900	+	Missense_Mutation	SNP	G	G	A	rs149919712		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:155686900G>A	ENST00000368336.5	+	3	273	c.149G>A	c.(148-150)cGc>cAc	p.R50H	DAP3_ENST00000535183.1_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000471214.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	50					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)					GCTATTTCCCGCACCAATGAG	0.473000													6	767					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75840648	75840648	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:75840648G>A	ENST00000322507.8	-	36	6296	c.5987C>T	c.(5986-5988)cCg>cTg	p.P1996L	COL12A1_ENST00000416123.2_Missense_Mutation_p.P1996L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P832L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1996L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1996	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAGTGTGTCCGGAATCAGCCG	0.537000													5	367					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			134	158					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56203230	56203230	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56203230C>A	ENST00000411543.2	+	7	1678	c.1131C>A	c.(1129-1131)ccC>ccA	p.P377P	EPN1_ENST00000085079.7_Silent_p.P266P|EPN1_ENST00000270460.6_Silent_p.P291P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	291	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGGCTGCCCCCACCTCGGACC	0.746000													6	315					8.12818e-05	9.447e-05	1	1	0
RGL1	23179	broad.mit.edu	37	1	183895311	183895311	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:183895311G>A	ENST00000304685.3	+	19	2758	c.2297G>A	c.(2296-2298)cGc>cAc	p.R766H	RGL1_ENST00000367531.1_Missense_Mutation_p.R766H|RGL1_ENST00000539189.1_Missense_Mutation_p.R702H|RGL1_ENST00000536277.1_Missense_Mutation_p.R729H|RGL1_ENST00000360851.3_Missense_Mutation_p.R731H	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	731					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.R766H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTCATTTTGCGCAAAAAGAAC	0.453000													6	826					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131597922	131597922	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:131597922G>A	ENST00000436267.2	-	12	1311	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	CCBL1_ENST00000302586.3_Missense_Mutation_p.R294W|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R244W			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	294					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	AGCTGCTCCCGTTCAAAGCTC	0.597000													5	266					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101797339	101797339	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:101797339A>G	ENST00000375001.3	+	18	2546	c.2123A>G	c.(2122-2124)aAg>aGg	p.K708R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	708	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCGGGGAAAAAGGGACAAGCT	0.617000													5	577					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779455	18779455	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:18779455C>T	ENST00000300976.4	+	3	1338	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	416										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCATGGTGTACGCCACGGGCG	0.687000													3	53					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70595636	70595636	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:70595636C>T	ENST00000302516.5	+	17	2448	c.2237C>T	c.(2236-2238)gCc>gTc	p.A746V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	746					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCGGGTTTTGCCTCGGAACAG	0.527000													6	718					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517000													14	2665					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9197404	9197404	+	Missense_Mutation	SNP	G	G	A	rs138681371	by1000genomes	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:9197404G>A	ENST00000382496.5	-	10	1609	c.944C>T	c.(943-945)gCg>gTg	p.A315V		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	315	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGCTGAGGCCGCAATGCTGTT	0.617000													9	487					0	0	1	0	0
DKFZP761J1410	0	broad.mit.edu	37	19	11474857	11474857	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:11474857G>A	ENST00000251473.5	+	9	1344	c.968G>A	c.(967-969)cGc>cAc	p.R323H	DKFZP761J1410_ENST00000591608.1_Silent_p.P303P	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCTGCAGGCCGCATTCGACAC	0.647000													5	683					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927081	130927081	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:130927081G>A	ENST00000261655.4	-	8	928	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_ENST00000536002.1_Silent_p.S163S|RIMBP2_ENST00000535703.1_Silent_p.S163S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	255						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCCGATGCCGGAATGGTTGA	0.597000													5	477					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223943299	223943299	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:223943299G>A	ENST00000295006.5	+	10	1562	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	CAPN2_ENST00000433674.2_Missense_Mutation_p.R340Q	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	418	Domain III.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CACCGACGGCGGCAGAGGAAG	0.612000													4	264					0	0	1	0	0
PSMB4	5692	broad.mit.edu	37	1	151372491	151372491	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:151372491G>A	ENST00000290541.6	+	2	229	c.175G>A	c.(175-177)Gtt>Att	p.V59I		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	59					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	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTCCTCGGCGTTAAGTTCGA	0.592000													5	795					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4940233	4940233	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:4940233C>A	ENST00000345988.2	-	18	2354	c.2265G>T	c.(2263-2265)caG>caT	p.Q755H	PPL_ENST00000590782.2_Missense_Mutation_p.Q753H	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	755					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTCTGTCTCCTGGGGCTCGT	0.617000													5	377					0.0215528	0.0236407	1	1	0
FBXW10	10517	broad.mit.edu	37	17	18653098	18653098	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:18653098G>C	ENST00000308799.4	+	3	953	c.734G>C	c.(733-735)gGa>gCa	p.G245A	FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395665.4_Missense_Mutation_p.G245A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	245								p.G245A(6)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTGGAAAAGGAGACATAACC	0.468000													5	680					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39735383C>T	ENST00000395670.3	-	14	2264	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398000													5	295					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517000													6	526					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74153538	74153538	+	Silent	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:74153538G>T	ENST00000443185.2	-	3	1790	c.1473C>A	c.(1471-1473)ggC>ggA	p.G491G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GATCGAGGTGGCCGGCGGGCG	0.751000													3	18					1	1	1	1	0
ADCK3	56997	broad.mit.edu	37	1	227170426	227170426	+	Missense_Mutation	SNP	C	C	T	rs140246430		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:227170426C>T	ENST00000366779.1	+	12	3672	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ADCK3_ENST00000433743.2_Missense_Mutation_p.R22W|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.R249W|ADCK3_ENST00000366777.3_Missense_Mutation_p.R301W|ADCK3_ENST00000366776.1_Missense_Mutation_p.R226W|ADCK3_ENST00000366775.1_Missense_Mutation_p.R146W|ADCK3_ENST00000458507.2_Missense_Mutation_p.R22W			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	301					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CGAGCGGGTGCGGCAGAGCGC	0.612000													6	563					0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72103116	72103116	+	RNA	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:72103116C>A	ENST00000398840.2	+	0	223							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						TGATGAGCTCCACAGTGGCTG	0.652000													3	28					6.4e-05	7.488e-05	1	1	0
FOXK1	221937	broad.mit.edu	37	7	4796791	4796791	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:4796791G>A	ENST00000328914.4	+	5	1217	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	FOXK1_ENST00000446823.1_Missense_Mutation_p.R243H	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	406					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCTGCTTCCGCACCCCCTTC	0.592000													6	624					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179146760	179146760	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:179146760G>A	ENST00000247461.4	+	9	1203	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	CANX_ENST00000452673.2_Missense_Mutation_p.D335N|CANX_ENST00000415618.2_Missense_Mutation_p.D370N|CANX_ENST00000512607.2_Missense_Mutation_p.D227N|CANX_ENST00000504734.1_Missense_Mutation_p.D335N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	335	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTGATCCAGACGCAGAGAA	0.408000													4	111					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2156013	2156013	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:2156013G>A	ENST00000262304.4	-	20	7924	c.7716C>T	c.(7714-7716)atC>atT	p.I2572I	PKD1_ENST00000423118.1_Silent_p.I2572I|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2572	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGGAGGGTGATGGCCAAAG	0.701000													5	268					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10107621	10107621	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:10107621C>T	ENST00000287647.3	+	25	2436	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	FANCD2_ENST00000419585.1_Silent_p.F781F|FANCD2_ENST00000383806.1_Silent_p.F781F|FANCD2_ENST00000383807.1_Silent_p.F781F	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	781					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGCGTTCATTCATGTGTTCTC	0.393000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				62	218					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	322222	322222	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:322222G>A	ENST00000390665.3	-	2	446	c.428C>T	c.(427-429)gCc>gTc	p.A143V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	143					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		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)				GCTGATGACGGCATCCACGTT	0.632000													6	326					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26682924	26682924	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:26682924C>A	ENST00000272371.2	-	46	6089	c.5963G>T	c.(5962-5964)gGc>gTc	p.G1988V	OTOF_ENST00000403946.3_Intron|OTOF_ENST00000402415.3_Missense_Mutation_p.G1298V|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000338581.6_Missense_Mutation_p.G1221V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1988					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCAGGTAGCCAGGCACAGA	0.587000													3	23					6.4e-05	7.488e-05	1	1	0
KIF24	347240	broad.mit.edu	37	9	34256761	34256761	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:34256761A>G	ENST00000379166.2	-	11	2963	c.2844T>C	c.(2842-2844)taT>taC	p.Y948Y	KIF24_ENST00000402558.2_Silent_p.Y948Y|KIF24_ENST00000345050.2_Silent_p.Y814Y|KIF24_ENST00000379174.3_Silent_p.Y814Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	948					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTCCTGTCTATATATGAAAT	0.527000													139	313					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967615	46967615	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:46967615C>A	ENST00000374323.3	-	3	1208	c.621G>T	c.(619-621)tcG>tcT	p.S207S	SYT15_ENST00000503753.1_Silent_p.S154S|SYT15_ENST00000374325.3_Silent_p.S154S|SYT15_ENST00000374321.4_Silent_p.S154S			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	154	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CATATTCCACCGAGAACCACA	0.622000													5	469					1	1	1	1	0
SMCR7L	0	broad.mit.edu	37	22	39910008	39910008	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:39910008G>T	ENST00000325301.2	+	6	1496	c.1072G>T	c.(1072-1074)Ggc>Tgc	p.G358C	SMCR7L_ENST00000404569.1_Missense_Mutation_p.G358C|SMCR7L_ENST00000402881.1_Missense_Mutation_p.G358C	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		358						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GGCTGACTCGGGCTGCCGATC	0.642000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	373					1	1	1	1	0
CIC	23152	broad.mit.edu	37	19	42794716	42794716	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:42794716G>A	ENST00000572681.2	+	11	4591	c.4523G>A	c.(4522-4524)cGg>cAg	p.R1508Q	CIC_ENST00000160740.3_Missense_Mutation_p.R599Q|CIC_ENST00000575354.2_Missense_Mutation_p.R599Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCACCTTCCGGCGCAAGAGA	0.682000			"""Mis, F, S"""		oligodendroglioma								8	706					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|RP11-76G10.1_ENST00000514843.1_RNA			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													8	28					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425848	74425848	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:74425848C>T	ENST00000361742.3	+	4	1522	c.753C>T	c.(751-753)cgC>cgT	p.R251R	ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R|ISLR2_ENST00000565159.1_Silent_p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	251	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCCCACTGCGCGCAGGACTGG	0.677000													88	188					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712250	32712250	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:32712250C>T	ENST00000265074.8	+	1	711	c.368C>T	c.(367-369)gCg>gTg	p.A123V	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.A123V|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	123					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTGGCGGCGGCGCGGGGCGCC	0.677000													6	502					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936074	178936074	+	Missense_Mutation	SNP	C	C	G	rs121913285		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:178936074C>G	ENST00000263967.3	+	10	1773	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	539	PI3K helical.				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.P539R(17)		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)			ACACGAGATCCTCTCTCTGAA	0.328000	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			85	251					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917920	65917920	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:65917920C>A	ENST00000261892.6	+	2	1789	c.1502C>A	c.(1501-1503)gCt>gAt	p.A501D	SLC24A1_ENST00000546330.1_Missense_Mutation_p.A501D|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A501D|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A501D|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A501D|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A501D	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	501					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACATTCATGGCTGCTGGAGGC	0.567000													6	442					0.217242	0.233187	1	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805							nucleic acid binding|protein binding|zinc ion binding	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378000													5	312					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494548	45494548	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:45494548C>T	ENST00000541297.2	+	12	1895	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	CLPTM1_ENST00000546079.1_Missense_Mutation_p.A389V|CLPTM1_ENST00000337392.5_Missense_Mutation_p.A491V			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	491					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGCTGCTATGCCGTCTACAGT	0.637000													7	1240					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155721	22155721	+	Silent	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:22155721G>T	ENST00000397126.4	-	4	2263	c.2115C>A	c.(2113-2115)tcC>tcA	p.S705S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.S605S(2)|p.S705S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.368000													5	503					0.00198382	0.00225346	1	1	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													10	290					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38165362	38165362	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38165362C>T	ENST00000406386.3	+	21	7084	c.6829C>T	c.(6829-6831)Cgg>Tgg	p.R2277W	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W|RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2277					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGCAACGAGCGGAGTTCCTG	0.667000													9	53					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121106698	121106698	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:121106698C>T	ENST00000295228.3	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCCCGGGTCCGCCTATACTT	0.557000													109	282					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51418833	51418833	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:51418833A>C	ENST00000266037.9	+	53	5959	c.5936A>C	c.(5935-5937)cAc>cCc	p.H1979P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1979						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.H1979P(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGCCCTACCACCCCCGCCTG	0.692000													32	91					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													11	655					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86022348	86022348	+	Splice_Site	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:86022348A>T	ENST00000414626.2	+	2	1139		c.e2-1		LRRCC1_ENST00000360375.3_Splice_Site			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						cell division|mitosis	centriole|nucleus		p.?(4)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ttttttttttaGGACTTGAAG	0.244000													6	565					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:40581109T>C	ENST00000450241.2	-	6	1449	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V			O75290	Z780A_HUMAN	zinc finger protein 780A	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383000													10	1486					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54383224	54383224	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:54383224C>A	ENST00000303460.4	+	2	1097	c.1023C>A	c.(1021-1023)ttC>ttA	p.F341L	HOXC10_ENST00000511575.1_3'UTR	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	341					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						ATTTTAATTTCACCTGAGAGC	0.488000											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	153					3.59834e-05	4.25258e-05	1	1	0
SUSD3	203328	broad.mit.edu	37	9	95841808	95841808	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:95841808G>A	ENST00000375472.3	+	4	517	c.481G>A	c.(481-483)Gca>Aca	p.A161T	SUSD3_ENST00000375469.1_Missense_Mutation_p.A148T	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	161						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GGTGCAGGCCGCATACCTTGG	0.607000													4	204					0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45936217	45936217	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:45936217C>T	ENST00000532681.1	-	6	1057	c.194G>A	c.(193-195)gGc>gAc	p.G65D	PEX16_ENST00000378750.5_Missense_Mutation_p.G160D|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	160					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTCATGGTTGCCAGGGCTGTG	0.582000													114	316					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27888028	27888028	+	Missense_Mutation	SNP	G	G	A	rs142838727		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27888028G>A	ENST00000326019.6	+	2	1169	c.887G>A	c.(886-888)cGc>cAc	p.R296H		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	296						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AAGGAATTGCGCAAGCAGCAG	0.413000													5	522					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120819136	120819136	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:120819136G>A	ENST00000369144.3	-	10	1548	c.1421C>T	c.(1420-1422)gCa>gTa	p.A474V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A440V|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	474	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATGCCTGGCTGCATCTACTAT	0.463000													6	391					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													6	282					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38151670	38151670	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:38151670G>A	ENST00000308059.6	+	23	3362	c.3341G>A	c.(3340-3342)cGc>cAc	p.R1114H	DLEC1_ENST00000452631.2_Missense_Mutation_p.R1117H|DLEC1_ENST00000346219.3_Missense_Mutation_p.R1114H			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1114					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)		CGTGTGACTCGCCAGCTCATT	0.577000													6	1022					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67685831	67685831	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:67685831C>T	ENST00000334583.6	+	26	2924	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	RLTPR_ENST00000545661.1_Missense_Mutation_p.R830W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	866										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TAGGGACATGCGGCTATCAAT	0.612000													7	620					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77249648	77249648	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:77249648C>T	ENST00000376896.2	+	3	807	c.195C>T	c.(193-195)tgC>tgT	p.C65C	RORB_ENST00000396204.2_Silent_p.C76C	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	76					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCCAACACTGCCGACTGCAGA	0.448000													6	348					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	88126102	88126102	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:88126102C>A	ENST00000327946.7	-	1	133	c.48G>T	c.(46-48)gtG>gtT	p.V16V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	16						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCCGCACCGACACGCACTGGC	0.751000										Multiple Myeloma(13;0.14)			3	37					1	1	1	1	0
RBM14	10432	broad.mit.edu	37	11	66394132	66394132	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:66394132G>A	ENST00000310137.4	+	3	2142	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	668					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TACCAGCGCCGCATGTAGGGC	0.577000													5	124					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152553674	152553674	+	Missense_Mutation	SNP	G	G	A	rs144727670		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:152553674G>A	ENST00000305097.3	+	1	939	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	35					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTCCACTGCCGCCGTCTCCTC	0.632000													5	284					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498000													7	629					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81627309	81627309	+	Silent	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:81627309G>T	ENST00000558726.1	-	21	2349	c.2214C>A	c.(2212-2214)atC>atA	p.I738I	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.I737I|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	737						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCTGGGTCTGGATTCGGGCTG	0.532000													5	199					1	1	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433052	55433052	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:55433052G>A	ENST00000314259.3	+	1	439	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R137L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATGAGTCCACGGGTGTGCTGC	0.512000													5	607					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029608	150029608	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150029608G>A	ENST00000394243.1	+	3	2877	c.2503G>A	c.(2503-2505)Gcc>Acc	p.A835T	SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T|SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	835	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTCGCCCGCCAAGCCCAG	0.667000													6	538					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688985	3688985	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:3688985C>A	ENST00000250699.2	-	4	443	c.372G>T	c.(370-372)gcG>gcT	p.A124A	CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	124					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CTGGAGGCTGCGCGTCGGCTC	0.751000													3	59					6.4e-05	7.488e-05	1	1	0
TOP2B	7155	broad.mit.edu	37	3	25674236	25674236	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:25674236A>G	ENST00000435706.2	-	9	1262	c.1061T>C	c.(1060-1062)aTt>aCt	p.I354T	TOP2B_ENST00000264331.4_Missense_Mutation_p.I359T			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	359					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AACTACTTCAATCAGTTTACC	0.328000													11	656					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34912428	34912428	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:34912428T>C	ENST00000246535.3	+	6	849	c.802T>C	c.(802-804)Tcc>Ccc	p.S268P	PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	268						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCCTAGGTATTCCTGGAGTGG	0.493000													345	797					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74598276	74598276	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:74598276G>A	ENST00000361874.3	-	9	990	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	DCTN1_ENST00000409240.1_Missense_Mutation_p.R188W|DCTN1_ENST00000407639.2_Missense_Mutation_p.R91W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R218W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R91W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R208W|DCTN1_ENST00000409567.3_Missense_Mutation_p.R205W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	225					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCAGGTCCCGCACCTGAGCC	0.557000													8	1288					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6631057	6631057	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:6631057C>T	ENST00000315579.5	+	15	2607	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	603	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCAATATGTCGGATCCTGAG	0.483000													7	395					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573792	52573792	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:52573792G>A	ENST00000395489.2	-	12	1547	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.A391V|A1CF_ENST00000395495.1_Missense_Mutation_p.A336V|A1CF_ENST00000374001.1_Missense_Mutation_p.A383V|A1CF_ENST00000282641.2_Missense_Mutation_p.A391V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.A391V|A1CF_ENST00000373997.3_Missense_Mutation_p.A383V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	391	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTCACTCCCGCAGCCCCTAC	0.468000													5	347					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35513689	35513689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:35513689G>A	ENST00000378880.2	-	3	728	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	95					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAGCCATTTCGGCAGCTCTTG	0.522000													299	738					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166545	180166545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:180166545G>A	ENST00000307832.2	-	1	554	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATTCAGTCGATGGCCACAG	0.542000													79	147					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775723	72775723	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:72775723G>A	ENST00000299687.5	+	8	6046	c.6046G>A	c.(6046-6048)Gcc>Acc	p.A2016T		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2016					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)		CAGGCCCGGCGCCAAAGACGT	0.672000													4	113					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4722339	4722339	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:4722339G>A	ENST00000354582.6	+	25	3420	c.3070G>A	c.(3070-3072)Gga>Aga	p.G1024R	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1009R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1024					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACATCCTCCGGAAACAGCAG	0.433000													65	128					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53122219	53122219	+	Silent	SNP	A	A	G	rs10402820	by1000genomes	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:53122219A>G	ENST00000600714.1	-	4	394	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000601257.1_Silent_p.L38L|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000596930.1_Silent_p.L38L			P51522	ZNF83_HUMAN	zinc finger protein 83	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TAATTCTCCAACATCACATCT	0.468000													6	634					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49224157	49224157	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:49224157C>T	ENST00000222145.4	-	12	2994	c.2790G>A	c.(2788-2790)ttG>ttA	p.L930L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	930					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GTTCACGGTGCAAGGCATCGT	0.652000													5	313					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413154	105413154	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:105413154G>A	ENST00000333244.5	-	7	8753	c.8634C>T	c.(8632-8634)gaC>gaT	p.D2878D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2878						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACGTCCACCTGGC	0.617000													9	1305					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6472245	6472245	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:6472245C>T	ENST00000525074.1	-	9	2141	c.1747G>A	c.(1747-1749)Gta>Ata	p.V583I	TRIM3_ENST00000537602.1_Missense_Mutation_p.V505I|TRIM3_ENST00000536344.1_Missense_Mutation_p.V464I|TRIM3_ENST00000359518.3_Missense_Mutation_p.V583I|TRIM3_ENST00000345851.3_Missense_Mutation_p.V583I	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	583					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCGGTCTACGGCCACTCCC	0.537000													5	351					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696061	99696061	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:99696061G>A	ENST00000370597.3	-	3	642	c.287C>T	c.(286-288)gCg>gTg	p.A96V	CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	96						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATCGACCGCGATGTTCAC	0.662000													64	204					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048099	20048099	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:20048099C>G	ENST00000400230.2	-	6	391	c.347G>C	c.(346-348)gGc>gCc	p.G116A	TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G116A(1)|p.G79A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAATAAGCCAATAGCTAG	0.343000													5	605					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63409864	63409864	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:63409864G>T	ENST00000330258.3	-	2	3575	c.3303C>A	c.(3301-3303)caC>caA	p.H1101Q	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									AAGGCCCATAGTGAGTGGGCT	0.622000													3	45					1	1	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86590761	86590761	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:86590761C>T	ENST00000370571.2	-	3	1624	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	420					cell adhesion	collagen	extracellular matrix structural constituent	p.E420*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCATGAGTTCGTTAGTGTGT	0.358000													127	185					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61522358	61522358	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:61522358G>A	ENST00000266070.4	-	15	3820	c.3495C>T	c.(3493-3495)agC>agT	p.S1165S	DIDO1_ENST00000395340.1_Silent_p.S1165S|DIDO1_ENST00000395335.2_Silent_p.S1165S|DIDO1_ENST00000395343.1_Silent_p.S1165S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1165					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCCTGGGCGCTCAGCGGGA	0.577000													5	321					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31424527	31424527	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:31424527C>T	ENST00000389202.2	+	16	2005	c.1956C>T	c.(1954-1956)acC>acT	p.T652T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	652					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGACGCCACCGTCTGTCTCA	0.607000													8	444					0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647821	32647821	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:32647821C>T	ENST00000394620.1	+	3	661	c.194_splice	c.e3-1	p.I65_splice		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	65					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCCCCACAGCTTCAAGACCA	0.512000													40	76					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608126	28608126	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:28608126T>C	ENST00000380982.4	-	15	1921	c.1840A>G	c.(1840-1842)Aag>Gag	p.K614E	FLT3_ENST00000241453.7_Missense_Mutation_p.K614E|FLT3_ENST00000537084.1_Missense_Mutation_p.K614E			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	614	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G613_K614ins33(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTAGTACCTTCCCTGCAAAG	0.403000			"""Mis, O"""		"""AML, ALL"""								8	908					0	0	1	0	0
ITGA6	0	broad.mit.edu	37	2	173333979	173333979	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:173333979T>A	ENST00000375221.2	+	4	717	c.514T>A	c.(514-516)Tgg>Agg	p.W172R	ITGA6_ENST00000264106.6_Missense_Mutation_p.W172R|ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R|ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R|ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R			P23229	ITA6_HUMAN	integrin, alpha 6	172					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGGGGGAGATTGGAGCTTTTG	0.448000													223	509					0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134165159	134165159	+	Missense_Mutation	SNP	G	G	A	rs147065829		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:134165159G>A	ENST00000392638.2	+	8	1265	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368614.3_Silent_p.P325P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000368610.3_Silent_p.P263P			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527000													7	1282					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443794	5443794	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:5443794G>A	ENST00000300778.4	+	1	454	c.364G>A	c.(364-366)Gtt>Att	p.V122I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTATGTCCGTTGACTGCTA	0.478000													7	786					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179851826	179851826	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:179851826G>A	ENST00000435319.3	+	1	380	c.189G>A	c.(187-189)ccG>ccA	p.P63P	TOR1AIP1_ENST00000271583.3_Silent_p.P63P	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	63						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CGGACGAGCCGCCAGAAGTGT	0.647000													5	252					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97669652	97669652	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:97669652C>T	ENST00000333396.6	-	6	1448	c.866G>A	c.(865-867)gGc>gAc	p.G289D	MINA_ENST00000394198.2_Missense_Mutation_p.G289D|MINA_ENST00000360258.4_Missense_Mutation_p.G289D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	289					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGGGGTATGCCGGTCCGTAA	0.532000													7	408					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223968597	223968597	+	Splice_Site	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:223968597C>A	ENST00000391878.2	-	19	3745		c.e19-1		TP53BP2_ENST00000343537.7_Splice_Site|TP53BP2_ENST00000498843.1_Splice_Site|TP53BP2_ENST00000391879.2_Splice_Site	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2						apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTGGGTACAGCTGCAAGAGAG	0.333000													5	446					1	1	1	1	0
OR51E1	143503	broad.mit.edu	37	11	4673891	4673891	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:4673891C>A	ENST00000396952.5	+	2	785	c.135C>A	c.(133-135)aaC>aaA	p.N45K	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTAGGTAACTTGACAATCA	0.468000													5	506					0.000602214	0.000690775	1	1	0
KRT76	51350	broad.mit.edu	37	12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	56	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGAGGCTGCGACTGCCAAA	0.672000													5	565					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144900700	144900700	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:144900700G>A	ENST00000526683.1	-	6	908	c.353C>T	c.(352-354)gCg>gTg	p.A118V	PUF60_ENST00000527197.1_Missense_Mutation_p.A72V|PUF60_ENST00000453551.2_Missense_Mutation_p.A75V|PUF60_ENST00000313352.7_Missense_Mutation_p.A58V|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Missense_Mutation_p.A89V|PUF60_ENST00000349157.6_Missense_Mutation_p.A101V	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	118	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGCTGAGCCGCCATCTGCAG	0.692000													4	74					0	0	1	0	0
PRDX2	7001	broad.mit.edu	37	19	12911057	12911057	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:12911057G>A	ENST00000301522.2	-	4	442	c.314C>T	c.(313-315)gCt>gTt	p.A105V	PRDX2_ENST00000334482.5_Missense_Mutation_p.A105V|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	105	Thioredoxin.			A -> G (in Ref. 2; AAA50465).	anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGTCACGTCAGCAAGCAGGGG	0.617000													6	559					0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197241260	197241260	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:197241260C>T	ENST00000392379.1	-	7	838	c.437G>A	c.(436-438)gGc>gAc	p.G146D	BDH1_ENST00000392378.2_Missense_Mutation_p.G146D|BDH1_ENST00000358186.2_Missense_Mutation_p.G146D|BDH1_ENST00000441275.1_Missense_Mutation_p.G59D	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	146					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CGTTGAGATGCCGGCATTGTT	0.567000													5	498					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular	zinc ion binding	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338000													6	455					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31576215	31576215	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:31576215T>A	ENST00000399332.1	-	38	7351	c.6863A>T	c.(6862-6864)tAt>tTt	p.Y2288F	HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2288	HECT.				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)		TCGTGACTCATAAATCAGTTT	0.368000													12	537					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61145358	61145358	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:61145358C>A	ENST00000295025.7	+	6	888	c.568C>A	c.(568-570)Cgt>Agt	p.R190S	REL_ENST00000394479.3_Missense_Mutation_p.R190S	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	190	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGGATTTGTCGTGTAAACAA	0.299000			A		Hodgkin Lymphoma								4	254					1	1	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70229862	70229862	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:70229862A>C	ENST00000342771.4	+	8	1660	c.1339A>C	c.(1339-1341)Acc>Ccc	p.T447P	AUTS2_ENST00000406775.2_Missense_Mutation_p.T447P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	447										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		cttcacacccaccctccagcc	0.647000													7	55					0	0	1	0	0
LZTS3	0	broad.mit.edu	37	20	3145622	3145622	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:3145622G>T	ENST00000329152.3	-	3	2897	c.1500C>A	c.(1498-1500)agC>agA	p.S500R	LZTS3_ENST00000337576.5_Missense_Mutation_p.S454R|LZTS3_ENST00000360342.3_Missense_Mutation_p.S454R	NM_014731.2	NP_055546.1																					TGGCCTGCTTGCTGCTGAAGG	0.706000													3	36					1	1	1	1	0
MUSK	4593	broad.mit.edu	37	9	113562883	113562883	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:113562883C>T	ENST00000416899.2	+	13	2327	c.2201C>T	c.(2200-2202)gCc>gTc	p.A734V	MUSK_ENST00000374448.4_Missense_Mutation_p.A742V|MUSK_ENST00000189978.5_Missense_Mutation_p.A742V			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	742	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTGAAAATTGCCGACTTTGGC	0.498000													6	932					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154574475	154574475	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:154574475C>A	ENST00000368474.4	-	2	842	c.643G>T	c.(643-645)Ggt>Tgt	p.G215C	ADAR_ENST00000292205.5_Missense_Mutation_p.G258C|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	215					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCTATGACCGTCTGGTCTT	0.522000													6	966					1	1	1	1	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													9	351					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154842330	154842330	+	Silent	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:154842330T>C	ENST00000271915.3	-	1	426	c.111A>G	c.(109-111)caA>caG	p.Q37Q		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	37	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			gctgctgctgttgctgctgct	0.677000													5	107					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38153721	38153721	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38153721G>A	ENST00000406386.3	+	16	6044	c.5789G>A	c.(5788-5790)cGg>cAg	p.R1930Q	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1930					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTCATCAGCCGGGGTGGCCCT	0.701000													11	13					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56042597	56042597	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56042597G>A	ENST00000413299.1	-	3	406	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SBK2_ENST00000344158.3_Silent_p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	123	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCAATGCCGTAGGCCGTCA	0.642000													57	139					0	0	1	0	0
RAB40B	10966	broad.mit.edu	37	17	80616499	80616499	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:80616499C>T	ENST00000571995.1	-	5	564	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Intron	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	145					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGGCGCTCGGCGTAGGCCTGG	0.652000													78	151					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927647	38927647	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:38927647T>C	ENST00000302328.3	-	16	3116	c.2918A>G	c.(2917-2919)gAg>gGg	p.E973G	SCN11A_ENST00000444237.2_Missense_Mutation_p.E973G|SCN11A_ENST00000450244.1_Missense_Mutation_p.E973G|SCN11A_ENST00000456224.3_Intron	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	973					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGATGAGGCTCATCTTCAGA	0.473000													5	478					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114445373	114445373	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114445373A>G	ENST00000369569.1	-	2	505	c.225T>C	c.(223-225)taT>taC	p.Y75Y	AP4B1_ENST00000256658.4_Silent_p.Y75Y|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Silent_p.Y75Y	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	75					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		TCAGGGGAGCATATGTGCACA	0.498000													135	157					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560722	1560722	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:1560722G>A	ENST00000357210.4	+	7	1168	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	MIB2_ENST00000378710.3_Missense_Mutation_p.G318R|MIB2_ENST00000504599.1_Missense_Mutation_p.G274R|MIB2_ENST00000520777.1_Missense_Mutation_p.G375R|MIB2_ENST00000355826.5_Missense_Mutation_p.G361R|MIB2_ENST00000378708.1_Missense_Mutation_p.G260R|MIB2_ENST00000518681.1_Missense_Mutation_p.G310R|MIB2_ENST00000360522.4_Missense_Mutation_p.G318R|MIB2_ENST00000378712.1_Missense_Mutation_p.G195R|MIB2_ENST00000505820.2_Missense_Mutation_p.G375R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	318					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTTCCAGCACGGGGACAAGGT	0.701000													3	26					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045587	42045587	+	Missense_Mutation	SNP	C	C	T	rs139041950	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:42045587C>T	ENST00000372584.1	-	3	5896	c.4882G>A	c.(4882-4884)Gct>Act	p.A1628T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1628T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1628T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1628T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1628					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACCAACCAGCGTAAACAGAG	0.478000													5	492					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15844126	15844126	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:15844126A>G	ENST00000338282.6	-	16	2033	c.1927T>C	c.(1927-1929)Tcc>Ccc	p.S643P	MYH11_ENST00000300036.5_Missense_Mutation_p.S643P|MYH11_ENST00000576790.1_Missense_Mutation_p.S643P|MYH11_ENST00000396324.3_Missense_Mutation_p.S650P|MYH11_ENST00000452625.2_Missense_Mutation_p.S650P	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	643	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGTCTTGGAGGCGCTGGGC	0.632000			T	CBFB	AML								4	144					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119962542	119962542	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:119962542C>T	ENST00000464295.1	-	3	623	c.178G>A	c.(178-180)Gga>Aga	p.G60R	GPR156_ENST00000315843.3_Missense_Mutation_p.G60R|GPR156_ENST00000461057.1_Missense_Mutation_p.G60R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	60						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCAGAAGTCCACAGCTGAGA	0.433000													118	272					0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59895034	59895034	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:59895034G>A	ENST00000265036.5	-	10	1363	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	432					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TAATTTGACGGCAAAATGATG	0.383000													5	462					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371624	240371624	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:240371624C>T	ENST00000319653.9	+	5	3742	c.3512C>T	c.(3511-3513)gCg>gTg	p.A1171V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1171	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTACCCGGAGCGGGCATACCC	0.687000													4	79					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27607706	27607706	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27607706C>T	ENST00000344034.4	-	5	923	c.659G>A	c.(658-660)cGt>cAt	p.R220H	PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	220					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTCAGTCCCACGTTCCGAGTT	0.572000													16	393					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64518983	64518983	+	Translation_Start_Site	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:64518983G>A	ENST00000357395.3	+	0	8582				SYNE2_ENST00000554584.1_Silent_p.S2817S|SYNE2_ENST00000344113.4_Silent_p.S2784S|SYNE2_ENST00000358025.3_Silent_p.S2784S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGGAATCGTTGGCTGAAG	0.443000													6	629					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363058	105363058	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:105363058G>A	ENST00000369774.4	-	15	2193	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S	SH3PXD2A_ENST00000540321.1_Silent_p.S506S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.S474S|SH3PXD2A_ENST00000355946.2_Silent_p.S611S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	639	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGCTGTCCCCGGAGGAGCCTC	0.582000													6	923					0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43488767	43488767	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:43488767G>A	ENST00000372389.3	+	8	991	c.903G>A	c.(901-903)cgG>cgA	p.R301R	POLR1C_ENST00000372344.2_Silent_p.R251R|POLR1C_ENST00000304004.3_Silent_p.R301R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	301					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGCTTGCCCGGGTTCGAGATC	0.488000													5	445					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597000													6	647					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467278	10467278	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:10467278C>T	ENST00000382483.3	-	4	4553	c.4330G>A	c.(4330-4332)Gca>Aca	p.A1444T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1444					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTGCCCTCTGCGGGGCACGGC	0.632000													8	950					0	0	1	0	0
C20orf27	54976	broad.mit.edu	37	20	3735071	3735071	+	Missense_Mutation	SNP	G	G	A	rs147923821	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:3735071G>A	ENST00000379772.3	-	5	1207	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	C20orf27_ENST00000217195.8_Missense_Mutation_p.R158C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	133										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						ACCGTCACGCGCACACAGGTG	0.607000													5	457					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47533708	47533708	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:47533708C>A	ENST00000455779.1	+	4	372	c.187C>A	c.(187-189)Ctc>Atc	p.L63I	PHKB_ENST00000323584.5_Missense_Mutation_p.L70I|PHKB_ENST00000299167.8_Missense_Mutation_p.L70I|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.L63I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	70					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AACTACCGGTCTCTTTCCCAC	0.502000													6	592					0.0215528	0.0236407	1	1	0
HFE2	148738	broad.mit.edu	37	1	145415543	145415543	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:145415543G>A	ENST00000336751.5	+	3	600	c.362G>A	c.(361-363)cGc>cAc	p.R121H	HFE2_ENST00000357836.5_Missense_Mutation_p.R8H|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	121					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACTGCTCCCGCCAGGGCCCT	0.711000													6	296					0	0	1	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593808	156593808	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:156593808G>T	ENST00000255039.1	+	4	702	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	99	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCCTGGGAGGGCGCGCCAG	0.687000													5	111					5.9392e-07	7.11488e-07	1	1	0
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522000													8	1166					0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18634465	18634465	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:18634465G>A	ENST00000449552.2	+	5	1768	c.284G>A	c.(283-285)cGc>cAc	p.R95H	TRIM16L_ENST00000395902.3_Missense_Mutation_p.R149H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R95H|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R95H			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	95						cytoplasm		p.R95H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TCGGGCATCCGCAAAGTTATC	0.443000													5	365					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17753758	17753758	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:17753758C>A	ENST00000428389.2	-	21	2631	c.2632G>T	c.(2632-2634)Gac>Tac	p.D878Y	UNC13A_ENST00000519716.2_Missense_Mutation_p.D790Y|UNC13A_ENST00000252773.7_Missense_Mutation_p.D790Y|UNC13A_ENST00000552293.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000551649.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000550896.1_Missense_Mutation_p.D788Y			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	790					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCAGATTTGTCAGTTCGCTTG	0.502000													4	99					2.56e-06	3.04597e-06	1	1	0
SLC25A25	114789	broad.mit.edu	37	9	130869557	130869557	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:130869557C>T	ENST00000373066.5	+	11	1747	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L	SLC25A25_ENST00000373069.5_Missense_Mutation_p.P461L|SLC25A25_ENST00000373068.2_Missense_Mutation_p.P449L|SLC25A25_ENST00000373064.5_Missense_Mutation_p.P415L|SLC25A25_ENST00000433501.1_Missense_Mutation_p.P312L|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P435L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	415					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGGGCGCTCCGGAGGTGACC	0.632000													6	558					0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56600294	56600294	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56600294G>A	ENST00000270459.3	-	3	365	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGCTGGTGCCGCGTCAGCTTG	0.721000													43	133					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478000													6	859					0	0	1	0	0
DPF1	0	broad.mit.edu	37	19	38704302	38704302	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:38704302G>A	ENST00000416611.1	-	10	1119	c.996C>T	c.(994-996)tgC>tgT	p.C332C	DPF1_ENST00000412732.1_Silent_p.C276C|DPF1_ENST00000355526.4_Silent_p.C358C|DPF1_ENST00000420980.2_Silent_p.C314C|DPF1_ENST00000456296.1_Silent_p.C332C|DPF1_ENST00000414789.1_Silent_p.C276C			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	314					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAGGTTCCGCACAGGCTGC	0.657000													6	484					0	0	1	0	0
PRADC1	84279	broad.mit.edu	37	2	73457283	73457283	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73457283G>A	ENST00000258083.2	-	2	193	c.126C>T	c.(124-126)taC>taT	p.Y42Y	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	42						extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						CTGTGAAGATGTATCGAATGT	0.488000													61	178					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		GTTTTACACCGCAAACTTCCC	0.488000													8	997					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20644017	20644017	+	RNA	SNP	G	G	A	rs143166324		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:20644017G>A	ENST00000428453.1	-	0	3442																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCCAGGACCGCCATGAGGCC	0.602000													4	162					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658194	46658194	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:46658194G>A	ENST00000253255.5	-	1	1025	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	342	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTTGGCATCGCCAAGCATCA	0.572000													7	1059					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108107854	108107854	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:108107854C>T	ENST00000273353.3	-	39	5614	c.5558G>A	c.(5557-5559)cGc>cAc	p.R1853H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1853						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCAAGTCTGCGGGCTCCCCT	0.547000													7	466					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107398626	107398626	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:107398626G>A	ENST00000440859.2	+	6	946	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	160					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CAGTGTACACGAGGTTCTCTC	0.378000													123	293					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203678532	203678532	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:203678532G>A	ENST00000357681.5	+	11	2784	c.1661G>A	c.(1660-1662)cGt>cAt	p.R554H	ATP2B4_ENST00000391954.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R542H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R554H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	554					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGGCTGTGCGTAATGAAGTG	0.547000													5	448					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11363475	11363475	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:11363475C>T	ENST00000294618.7	-	3	303	c.292G>A	c.(292-294)Ggg>Agg	p.G98R		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	98					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTGGGGATCCCGGGCTCCGTG	0.637000													4	189					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716991	142716991	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:142716991C>T	ENST00000381779.4	-	2	2159	c.1934G>A	c.(1933-1935)cGc>cAc	p.R645H	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R645H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R645H	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	645						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)					TTTCTTGTTGCGTCGCAGGAC	0.458000													8	320					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121469326	121469326	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:121469326G>A	ENST00000257570.5	-	3	846	c.576C>T	c.(574-576)agC>agT	p.S192S	OASL_ENST00000339275.5_Silent_p.S192S	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	192					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCAGCTCGCTGAAGGATG	0.577000													6	459					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50492897	50492897	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:50492897G>A	ENST00000599538.1	-	11	1759	c.1096_splice	c.e11+1	p.C365_splice	VRK3_ENST00000601912.1_Splice_Site_p.C315_splice|VRK3_ENST00000316763.3_Splice_Site_p.C365_splice|VRK3_ENST00000601341.1_Splice_Site_p.C315_splice|VRK3_ENST00000593919.1_Splice_Site_p.C365_splice|VRK3_ENST00000594092.1_Splice_Site_p.C365_splice|VRK3_ENST00000443401.2_Splice_Site_p.C134_splice|VRK3_ENST00000377011.2_Splice_Site_p.C315_splice|VRK3_ENST00000594948.1_Splice_Site_p.C365_splice			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	365	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GCCTCGTACCGCATCCCTTGT	0.582000													4	172					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30653858	30653858	+	Silent	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:30653858A>C	ENST00000358107.4	-	2	323	c.324T>G	c.(322-324)ggT>ggG	p.G108G	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccaccccacccccacccc	0.642000													5	37					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156138	155156138	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:155156138C>T	ENST00000357232.3	-	25	8300	c.8301G>A	c.(8299-8301)acG>acA	p.T2767T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2767					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCAGAGGTCGTCTGAGTTG	0.418000													12	301					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513641	50513641	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:50513641G>T	ENST00000419119.1	-	2	2898	c.1345C>A	c.(1345-1347)Cta>Ata	p.L449I	FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I|FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	449					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.L449L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGCCAATTAGAGTTTTACCA	0.458000													5	374					1	1	1	1	0
GNPAT	8443	broad.mit.edu	37	1	231401089	231401089	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:231401089T>C	ENST00000366647.4	+	5	788	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	207					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCGGGTGCCTTTTTCATGCG	0.383000													6	771					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12969534	12969534	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:12969534G>T	ENST00000251472.4	+	12	1386	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	MAST1_ENST00000591495.1_Missense_Mutation_p.M445I	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	449	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACCTCTGCATGGTCATGGAAT	0.632000													4	223					1	1	1	1	0
ZNFX1	57169	broad.mit.edu	37	20	47888005	47888005	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:47888005C>T	ENST00000396105.1	-	3	590	c.344G>A	c.(343-345)cGc>cAc	p.R115H	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R115H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R115H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	115							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGTGGTCTGCGGTTCCTACA	0.557000													8	1398					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871827	51871827	+	Silent	SNP	G	G	A	rs147016688	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:51871827G>A	ENST00000371497.5	+	2	2717	c.1830G>A	c.(1828-1830)gcG>gcA	p.A610A	TSHZ2_ENST00000603338.2_Silent_p.A607A|TSHZ2_ENST00000329613.6_Silent_p.A607A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	610					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A610A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGATGAAGCGGTGAAGGAGT	0.502000													130	395					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259649	89259649	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:89259649G>A	ENST00000336596.2	+	3	1018	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E265K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E265K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	265	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGCTATGAAGAAAGAGGTTT	0.403000										TSP Lung(6;0.00050)			6	915					0	0	1	0	0
IFT27	11020	broad.mit.edu	37	22	37163891	37163891	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:37163891C>T	ENST00000340630.5	-	2	492	c.47G>A	c.(46-48)gGc>gAc	p.G16D	IFT27_ENST00000433985.2_Missense_Mutation_p.G17D|IFT27_ENST00000453009.2_5'UTR	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	17					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	p.G16D(1)		endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCGGTCTTGCCCACTGCTGG	0.507000													6	1098					0	0	1	0	0
DND1	373863	broad.mit.edu	37	5	140052939	140052939	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140052939G>A	ENST00000542735.1	-	2	102	c.59C>T	c.(58-60)gCg>gTg	p.A20V	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	20					multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCGCCGCCTTGTTCTC	0.642000													84	330					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72195908	72195908	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:72195908G>A	ENST00000337273.5	+	21	2840	c.2414_splice	c.e21+1	p.W805_splice	TNPO1_ENST00000506351.2_Splice_Site_p.W797_splice|TNPO1_ENST00000523768.1_Splice_Site_p.W755_splice|TNPO1_ENST00000454282.1_Splice_Site_p.W755_splice	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	805					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.W797*(1)|p.W797L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATAAGACCCTGGTGTGTATTA	0.348000													166	361					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51430392	51430392	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:51430392G>A	ENST00000323686.4	+	1	1662	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	521					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCCGGCACCGCAACCTGGAC	0.607000													6	464					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39117617	39117617	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39117617A>T	ENST00000331366.5	-	13	967	c.871T>A	c.(871-873)Ttg>Atg	p.L291M	CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	291										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTTTCTACCAAGAAAGAGAGT	0.328000													130	386					0	0	1	0	0
IFI35	3430	broad.mit.edu	37	17	41165154	41165154	+	Missense_Mutation	SNP	C	C	T	rs139469566	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:41165154C>T	ENST00000415816.2	+	3	434	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	IFI35_ENST00000438323.2_Missense_Mutation_p.R71W	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	71					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TTCCAATTTGCGGATCCACTG	0.567000													8	1085					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48431626	48431626	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:48431626G>A	ENST00000435803.1	+	38	11787	c.11763G>A	c.(11761-11763)ccG>ccA	p.P3921P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3921	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.P3921P(1)|p.P3866P(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTGTGTCCGCAGCAGGACA	0.552000													4	271					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33369721	33369721	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:33369721G>C	ENST00000303296.4	+	12	2621	c.2316G>C	c.(2314-2316)ttG>ttC	p.L772F	HIPK3_ENST00000456517.1_Intron|HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000379016.3_Intron	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	772	Interaction with AR (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAGGTATTTTGGTAAAACTAA	0.363000													72	135					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68119756	68119756	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:68119756C>T	ENST00000380035.2	+	2	1648	c.1590C>T	c.(1588-1590)agC>agT	p.S530S	SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000389002.1_Silent_p.S486S|SKOR1_ENST00000554054.1_Silent_p.S502S|SKOR1_ENST00000554240.1_Silent_p.S491S			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	530					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ctgctggcagcggTGCCCCAG	0.766000													3	36					0	0	1	0	0
PCDHGA5	0	broad.mit.edu	37	5	140745619	140745619	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140745619C>T	ENST00000518069.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACGGGCGTGGAGCTGG	0.622000													286	604					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25516009	25516009	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:25516009G>A	ENST00000329474.6	+	21	2107	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	580					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GACATTAGCGGCAACGGAATG	0.547000													3	56					0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40967986	40967986	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:40967986G>A	ENST00000361523.4	-	8	902	c.770C>T	c.(769-771)gCc>gTc	p.A257V	BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	257					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCGTCTGGGCATAACGCAT	0.463000													7	1067					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91403123	91403123	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:91403123C>A	ENST00000370440.1	-	4	3824	c.3607G>T	c.(3607-3609)Gtt>Ttt	p.V1203F	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.V1203F			Q9H582	ZN644_HUMAN	zinc finger protein 644	1203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATTTCTGAACGAATCTCTTT	0.373000													6	508					3.59834e-05	4.25258e-05	1	1	0
ZCCHC14	23174	broad.mit.edu	37	16	87451113	87451113	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:87451113G>A	ENST00000268616.4	-	8	1142	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	309					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTGTGCAAACGCAGTTTCCTA	0.502000											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	939					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318141	176318141	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:176318141C>T	ENST00000292432.5	-	4	402	c.311G>A	c.(310-312)cGt>cAt	p.R104H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	104	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAAAACACGCAGTGAGGC	0.602000													103	251					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22208508	22208508	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:22208508C>T	ENST00000229329.2	+	3	653	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	175					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGTTGTGAGACGCCATCAGTT	0.323000													6	521					0	0	1	0	0
PCNA	5111	broad.mit.edu	37	20	5100411	5100411	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:5100411G>A	ENST00000379160.3	-	2	276	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	PCNA_ENST00000379143.5_Missense_Mutation_p.L12F	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	12	Interaction with NUDT15.				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ACCTTCTTGAGGATGGAGCCC	0.597000								DNA polymerases (catalytic subunits)					3	38					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098764	11098764	+	RNA	SNP	G	G	A	rs111324244		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:11098764G>A	ENST00000470054.1	-	0	161									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)		cactcctaccgctcaggccgc	0.622000													119	942					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493000													9	1776					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165972043	165972043	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:165972043C>T	ENST00000360093.3	-	19	3927	c.3436G>A	c.(3436-3438)Gtt>Att	p.V1146I	SCN3A_ENST00000409101.3_Missense_Mutation_p.V1097I|SCN3A_ENST00000283254.7_Missense_Mutation_p.V1146I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1146						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGTAGAACAACATCAACTGTG	0.398000													5	509					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													5	476					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23530745	23530745	+	Silent	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:23530745T>G	ENST00000262710.1	-	17	3687	c.3360A>C	c.(3358-3360)ccA>ccC	p.P1120P	ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000397341.3_Silent_p.P362P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000605057.1_Silent_p.P1062P|ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000338631.6_Silent_p.P393P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1120	Pro-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGGGTGGGGGTGGGGGGTGCA	0.657000													9	75					0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121336158	121336158	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:121336158G>A	ENST00000369092.4	-	12	1905	c.597C>T	c.(595-597)taC>taT	p.Y199Y	TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000369093.2_Silent_p.Y339Y|TIAL1_ENST00000436547.2_Silent_p.Y322Y			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	322					apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		ATGGTTGCCCGTATACTCCAT	0.413000													6	851					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66458687	66458687	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:66458687C>T	ENST00000423207.2	+	1	583	c.98C>T	c.(97-99)cCg>cTg	p.P33L	PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CTTGAGCTTCCGAGATTACCA	0.408000													5	304					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142467269	142467269	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:142467269C>A	ENST00000273482.6	+	3	888	c.497C>A	c.(496-498)gCa>gAa	p.A166E	TRPC1_ENST00000476941.1_Missense_Mutation_p.A200E	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	200					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTGTGTTCTGCAAAAAACAAA	0.353000													6	637					0.217242	0.233187	1	1	0
PPWD1	23398	broad.mit.edu	37	5	64868000	64868000	+	Missense_Mutation	SNP	G	G	A	rs150307628		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:64868000G>A	ENST00000261308.5	+	5	928	c.856G>A	c.(856-858)Gta>Ata	p.V286I	PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I|PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	286					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCCAACCAGCGTATGTTTTTC	0.348000													156	413					0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74711870	74711870	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:74711870C>A	ENST00000261980.2	+	3	548	c.458C>A	c.(457-459)aCa>aAa	p.T153K		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	153					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CCCCTCAGGACAATCTTTACC	0.557000													4	156					8.12818e-05	9.447e-05	1	1	0
DPY19L2P2	0	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750																											ACAGCTTGACACTTGCCATTG	0.373000													5	351					0	0	1	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3434792	3434792	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:3434792G>A	ENST00000396852.4	-	6	1208	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R12W|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R301W|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R89W|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R12W|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R301W|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R89W					zinc finger and SCAN domain containing 32																		TCTGGGGTCCGCAGAAAACCC	0.502000													7	960					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117465243	117465243	+	Missense_Mutation	SNP	C	C	A	rs80100705		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:117465243C>A	ENST00000455858.2	+	10	1461	c.1388C>A	c.(1387-1389)aCg>aAg	p.T463K	FBXW8_ENST00000309909.5_Missense_Mutation_p.T529K	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	529							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		AGCCTCATCACGGCCAACGTG	0.607000													4	209					1	1	1	1	0
UXS1	80146	broad.mit.edu	37	2	106710580	106710580	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:106710580G>A	ENST00000283148.7	-	15	1277	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	UXS1_ENST00000409501.3_Missense_Mutation_p.H389Y|UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	389					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGGAAGTAGTGAATTGCTTTG	0.473000													80	214					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669508	99669508	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:99669508T>C	ENST00000303915.6	-	5	1566	c.599A>G	c.(598-600)cAt>cGt	p.H200R	ZNF3_ENST00000424697.1_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R			P17036	ZNF3_HUMAN	zinc finger protein 3	200					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			ATCACACTTATGGGGTCTGTC	0.433000													151	379					0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92631768	92631768	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:92631768C>A	ENST00000413330.1	+	1	60	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	RPP30_ENST00000371703.3_Missense_Mutation_p.L9M	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	9					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AGATTTGGACCTGCGAGCGGG	0.672000													6	1062					1	1	1	1	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262							transcription factor binding	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517000													5	99					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CCCTTGACCCGCACAAGGACA	0.483000													5	335					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8595429	8595429	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:8595429C>T	ENST00000338257.8	-	20	2339	c.2072G>A	c.(2071-2073)cGa>cAa	p.R691Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	691						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						ATCGAACTTTCGCTCTCGCAC	0.647000													20	659					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50555746	50555746	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:50555746G>A	ENST00000262794.5	+	9	1503	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A474T|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A474T|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A454T	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	474					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTAACATCCGCAAAAACTAC	0.428000													5	503					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	110482	110482	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:110482G>A	ENST00000262316.6	-	12	1755	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	538					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTTGTGGCCCGCAAGCTCTGG	0.642000													6	418					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77907604	77907604	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:77907604G>A	ENST00000355300.6	-	2	819	c.645C>T	c.(643-645)caC>caT	p.H215H	LINGO1_ENST00000561030.1_Silent_p.H209H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	215					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGATGAGGCCGTGCAGGTGGG	0.607000													6	506					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67410658	67410658	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:67410658G>T	ENST00000329956.6	+	11	1708	c.1689G>T	c.(1687-1689)ttG>ttT	p.L563F	LRRC36_ENST00000563189.1_Missense_Mutation_p.L442F|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000541146.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	563										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCTGTCTTTGGTAGTCCCGG	0.517000													5	639					0.0215528	0.0236407	1	1	0
FAT2	2196	broad.mit.edu	37	5	150885588	150885588	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150885588G>A	ENST00000261800.5	-	23	12600	c.12588C>T	c.(12586-12588)tcC>tcT	p.S4196S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4196					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCACTTCGGAGTGGGGGT	0.622000													161	400					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:152082320T>C	ENST00000368804.1	-	2	3372	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1125	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctctcagcagctgc	0.612000													8	826					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991030	144991030	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:144991030C>A	ENST00000322810.4	-	32	13539	c.13370G>T	c.(13369-13371)gGc>gTc	p.G4457V	PLEC_ENST00000527096.1_Missense_Mutation_p.G4343V|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320V|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288V|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324V|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320V|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298V|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306V|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4457	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCGATGATGCCCCCGGTGCA	0.652000													5	372					1	1	1	1	0
TCAIM	285343	broad.mit.edu	37	3	44399353	44399353	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:44399353G>A	ENST00000342649.4	+	3	577	c.150G>A	c.(148-150)caG>caA	p.Q50Q	TCAIM_ENST00000417237.1_Silent_p.Q50Q|TCAIM_ENST00000383746.3_Silent_p.Q50Q|TCAIM_ENST00000396078.3_Silent_p.Q50Q	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		TCTTTGGACAGCACCCCGTAG	0.358000													6	459					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654414	46654414	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:46654414G>A	ENST00000253255.5	-	1	4805	c.4806C>T	c.(4804-4806)taC>taT	p.Y1602Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1602					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTCATAGCCGTAAGTCAGTC	0.398000													5	458					0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2583589	2583589	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:2583589G>A	ENST00000397195.5	+	10	1585	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Silent_p.A173A	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	378	Interaction with DCX.|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CCCTCAATGCGCATGAACACT	0.453000													6	597					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963780	7963780	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:7963780C>T	ENST00000306708.6	+	3	474	c.373C>T	c.(373-375)Cac>Tac	p.H125Y	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	125						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTGGTCATTCACACACTCAT	0.483000													6	916					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41916889	41916889	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:41916889G>A	ENST00000269980.2	+	3	718	c.350G>A	c.(349-351)cGc>cAc	p.R117H	BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	117					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ACCATGGACCGCATCCTCTAT	0.587000													7	916					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65113473	65113473	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:65113473G>A	ENST00000268043.4	-	6	1073	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	PIF1_ENST00000559239.1_Missense_Mutation_p.R327W|PIF1_ENST00000333425.6_Missense_Mutation_p.R327W			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	327	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TTCTGCTGCCGGACAGCTCTG	0.607000													5	410					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11887250	11887250	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:11887250T>C	ENST00000346436.6	+	10	864	c.812T>C	c.(811-813)tTc>tCc	p.F271S	CLCN6_ENST00000376487.3_Missense_Mutation_p.F249S|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.F271S|CLCN6_ENST00000312413.6_Missense_Mutation_p.F271S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	271					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCGTCCTTCTGGAACCAA	0.547000													4	161					0	0	1	0	0
FAM71F2	346653	broad.mit.edu	37	7	128315711	128315711	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:128315711C>A	ENST00000480462.1	+	2	269	c.163C>A	c.(163-165)Cct>Act	p.P55T	FAM71F2_ENST00000460349.1_Intron|FAM71F2_ENST00000477515.1_Missense_Mutation_p.P55T|FAM71F2_ENST00000378704.3_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	55										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GACCCATGTACCTGAGGCTGA	0.582000													4	193					0.150653	0.163713	1	1	0
PCDHB2	0	broad.mit.edu	37	5	140476767	140476767	+	Missense_Mutation	SNP	C	C	G	rs461653		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140476767C>G	ENST00000194155.4	+	1	2541	c.2393C>G	c.(2392-2394)aCt>aGt	p.T798S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		798					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAATTCACTTAAGTGTTA	0.423000													6	846					0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121362757	121362757	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:121362757G>A	ENST00000339397.4	+	8	1298	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GCAAGCAGAAGGCGAAAAGAA	0.368000													129	226					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:71347033C>T	ENST00000413702.1	+	4	860	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000456088.1_Missense_Mutation_p.A191V|MUC7_ENST00000304887.5_Missense_Mutation_p.A191V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.					extracellular region	protein binding	p.A191V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587000													7	572					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105433542	105433542	+	Missense_Mutation	SNP	C	C	T	rs143830632		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:105433542C>T	ENST00000258494.9	-	17	2134	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	665	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCAAGTTTGCGGATGTCAGG	0.443000													5	441					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40266956	40266956	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:40266956C>T	ENST00000225916.5	-	13	2026	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	658					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAGGGGATGCGGGGATTCAG	0.552000													8	1549					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100336383	100336383	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:100336383G>A	ENST00000294724.4	+	7	1394	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I|AGL_ENST00000370161.2_Missense_Mutation_p.V290I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	306					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAAGTAGATGTCAACAAAGC	0.303000													70	137					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50191075	50191075	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50191075T>A	ENST00000335999.6	-	8	769	c.568A>T	c.(568-570)Att>Ttt	p.I190F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	186	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACCTCCAGAATCTGGGCCTTC	0.682000													56	121					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920011	4920011	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:4920011G>A	ENST00000433855.1	+	1	1670	c.804G>A	c.(802-804)acG>acA	p.T268T	KCNA6_ENST00000280684.3_Silent_p.T268T	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGGTGGAGACGCTGTGCATTG	0.562000										HNSCC(72;0.22)			143	322					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446425	85446425	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:85446425T>A	ENST00000369663.5	-	8	2139	c.1802A>T	c.(1801-1803)cAa>cTa	p.Q601L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	601					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGCAGATACTTGAGATGATGA	0.408000													7	240					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													5	565					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973809	10973809	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:10973809A>C	ENST00000304623.8	-	22	3623	c.3434T>G	c.(3433-3435)gTc>gGc	p.V1145G	CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G|CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1145					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCTGTGGGACTGGCTGTGC	0.522000													84	208					0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTTGAAGCGGCACAGTTGGA	0.343000													6	749					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923873	150923873	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150923873A>G	ENST00000261800.5	-	9	6827	c.6815T>C	c.(6814-6816)tTt>tCt	p.F2272S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2272	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAATTGGGAAAAAGTGGGAGG	0.517000													9	428					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P|TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral to membrane		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736000													23	60					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74097870	74097870	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:74097870C>T	ENST00000607838.1	-	3	295	c.201G>A	c.(199-201)acG>acA	p.T67T	EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T|EXOC7_ENST00000405575.4_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000335146.7_Silent_p.T67T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000411744.2_Silent_p.T67T	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	67					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGATTCTCCGTCTGCTTGT	0.522000													105	123					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233480	45233480	+	Silent	SNP	C	C	T	rs146943650	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:45233480C>T	ENST00000303077.6	-	2	1024	c.705G>A	c.(703-705)ccG>ccA	p.P235P		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	235						nucleus	sequence-specific DNA binding transcription factor activity	p.P235P(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGGGGGCGGCGGGCTGAGGA	0.706000													6	415					0	0	1	0	0
PCDHA3	0	broad.mit.edu	37	5	140181615	140181615	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140181615C>T	ENST00000522353.2	+	1	833	c.833C>T	c.(832-834)gCg>gTg	p.A278V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A278V|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGATATCGCGTATTCTTTC	0.393000													5	492					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890209	23890209	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:23890209G>A	ENST00000532292.1	-	1	966	c.872C>T	c.(871-873)gCc>gTc	p.A291V		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTCCTCTTGGGCTTCCAGATG	0.632000													16	225					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801340	9801340	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:9801340G>A	ENST00000457674.2	-	5	1357	c.839C>T	c.(838-840)aCg>aTg	p.T280M	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCCACATTCCGTATATTTGTG	0.378000													5	593					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123474427	123474427	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:123474427T>G	ENST00000320201.4	-	17	2776	c.2638A>C	c.(2638-2640)Agc>Cgc	p.S880R	PITPNM2_ENST00000542749.1_Missense_Mutation_p.S880R|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R|PITPNM2_ENST00000280562.5_Intron	NM_020845.2	NP_065896.1	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	880	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGTGGGGCTGGGGGCGGGC	0.687000													4	25					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													7	606					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162376242	162376242	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:162376242C>T	ENST00000306100.5	-	15	2191	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	FSTL5_ENST00000536695.1_Silent_p.T584T|FSTL5_ENST00000427802.2_Silent_p.T575T|FSTL5_ENST00000379164.4_Silent_p.T584T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	585						extracellular region	calcium ion binding	p.T585T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGGTGTGGATCGTGTGGTGAG	0.433000													6	242					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88424058	88424058	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:88424058C>A	ENST00000297203.2	-	2	384	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	67										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCATAGTAGTCAGCAACATCT	0.388000													5	526					1	1	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41385178	41385178	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:41385178G>A	ENST00000400454.1	-	33	6299	c.5822C>T	c.(5821-5823)aCg>aTg	p.T1941M		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1941				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAGGACCGTGGGGCGCTT	0.627000													87	210					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			101	238					1.15629e-50	1.3947e-50	1	1	0
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:49724313G>T	ENST00000551245.1	+	13	1796	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000257909.3_Missense_Mutation_p.S562I			Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592000													6	396					0.00198382	0.00225346	1	1	0
KCNH4	23415	broad.mit.edu	37	17	40323892	40323892	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:40323892G>A	ENST00000264661.3	-	7	1441	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A370V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	370					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCAAGGAGCGCAAAGACCGA	0.627000													8	508					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123966034	123966034	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:123966034G>A	ENST00000314393.4	+	3	3119	c.2284G>A	c.(2284-2286)Gca>Aca	p.A762T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	762						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGTTTGCCAGCAAAGCCCTC	0.562000													5	308					0	0	1	0	0
FAM181B	220382	broad.mit.edu	37	11	82444594	82444594	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:82444594G>A	ENST00000329203.3	-	1	312	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	60										large_intestine(1)|lung(2)|prostate(1)	4						GTGGCCTCGCGCACGTCCCCT	0.662000													4	100					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722285	196722285	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:196722285C>A	ENST00000312428.6	-	44	8330	c.8230G>T	c.(8230-8232)Ggt>Tgt	p.G2744C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2744	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCATGTCACCAAGAAGTCTC	0.378000													7	576					1	1	1	1	0
FBLN2	2199	broad.mit.edu	37	3	13679167	13679167	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:13679167G>A	ENST00000404922.3	+	18	3563	c.3444G>A	c.(3442-3444)gcG>gcA	p.A1148A	FBLN2_ENST00000535798.1_Silent_p.A1127A|FBLN2_ENST00000492059.1_Silent_p.A1148A|FBLN2_ENST00000295760.7_Silent_p.A1101A	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1101	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGGTGCCTGCGCATATCTTCC	0.637000													5	249					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112667558	112667558	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:112667558C>A	ENST00000550722.1	-	41	6420	c.6025G>T	c.(6025-6027)Gca>Tca	p.A2009S	HECTD4_ENST00000430131.2_Missense_Mutation_p.A1733S|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1983S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCACACAGTGCGGCAACGGCC	0.493000													5	657					0.184627	0.200013	1	1	0
BTBD11	121551	broad.mit.edu	37	12	108013765	108013765	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:108013765G>A	ENST00000280758.5	+	11	2983	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	819						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTCCAGGCGTCCCGTGGAC	0.587000													30	101					0	0	1	0	0
FAM178A	0	broad.mit.edu	37	10	102672997	102672997	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:102672997C>T	ENST00000238961.3	+	1	278	c.130C>T	c.(130-132)Cct>Tct	p.P44S	FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S|FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	44																	AACAGAGAGTCCTGGGGACAG	0.682000													16	28					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131642	130131642	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:130131642G>A	ENST00000525842.1	-	2	494	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ZBTB44_ENST00000397753.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000357899.4_Missense_Mutation_p.R43W	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	43	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TTATGTGCCCGGAAGATTTTG	0.453000													6	631					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.P140P(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)					ACCACCCACCAGAACAGCGTG	0.542000													6	348					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgc>tg	p.CL132del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	132					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606													8	270	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:39799059_39799060insG	ENST00000564288.1	+	37	7576_7577	c.6799_6800insG	c.(6799-6801)ggafs	p.G2267fs	MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													8	297	---	---	---	---					
NBPF10	100132406	broad.mit.edu	37	1	145299839	145299839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:145299839delC	ENST00000342960.5	+	6	923	c.888delC	c.(886-888)cgfs	p.R296fs	NBPF10_ENST00000369338.1_Frame_Shift_Del_p.R25fs|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	296										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAATTGCGCCCCCAGCTGG	0.483													7	2224	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584023	145584023	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:145584023delC	ENST00000393045.2	+	10	1344	c.1254delC	c.(1252-1254)tgfs	p.C418fs	PIAS3_ENST00000369298.1_Frame_Shift_Del_p.C383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGAGGTTTGCCCCCCGCCAG	0.502													7	1896	---	---	---	---					
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gac>ga	p.ED171del	MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635													7	607	---	---	---	---					
CELF3	11189	broad.mit.edu	37	1	151678723	151678725	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:151678723_151678725delTGC	ENST00000290583.4	-	10	1894_1896	c.1101_1103delGCA	c.(1099-1104)caa>ca	p.QQ371del	CELF3_ENST00000290585.4_In_Frame_Del_p.QQ321del|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_In_Frame_Del_p.QQ166del|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	371	Gln-rich.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	p.Q367Q(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ctgctgctgttgctgctgctgct	0.660													10	97	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				13	607	---	---	---	---					
TDRD5	163589	broad.mit.edu	37	1	179620102	179620102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:179620102delT	ENST00000444136.1	+	12	2151	c.1901delT	c.(1900-1902)atfs	p.I634fs	TDRD5_ENST00000367614.1_Frame_Shift_Del_p.I634fs|TDRD5_ENST00000294848.8_Frame_Shift_Del_p.I634fs	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	634					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTTAACATTTTTTTGTGT	0.408													7	955	---	---	---	---					
CDC73	79577	broad.mit.edu	37	1	193111146	193111147	+	Frame_Shift_Del	DEL	AG	AG	-	rs145694828		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:193111146_193111147delAG	ENST00000367435.3	+	7	863_864	c.679_680delAG	c.(679-681)afs	p.R227fs		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	227					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATTGTCAGCAGAGAGAGAGTA	0.401													9	550	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204412620	204412621	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:204412620_204412621insT	ENST00000367187.3	-	20	3528_3529	c.2972_2973insA	c.(2971-2973)acgfs	p.T991fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.T963fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	991					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGCACTGGCGGTTAAACTCTTC	0.604													7	1499	---	---	---	---					
RBM34	23029	broad.mit.edu	37	1	235323838	235323838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:235323838delT	ENST00000408888.3	-	3	583	c.353delA	c.(352-354)agfs	p.K118fs	RBM34_ENST00000366606.3_Frame_Shift_Del_p.K113fs			P42696	RBM34_HUMAN	RNA binding motif protein 34	118						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GTCTGCCAACTTTTTTTCTGC	0.343													7	1496	---	---	---	---					
OR14C36	127066	broad.mit.edu	37	1	248512383	248512384	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:248512383_248512384insT	ENST00000317861.1	+	1	307_308	c.307_308insT	c.(307-309)tttfs	p.F103fs		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F105fs*28(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTTCCTCGTGGTTTTTTTTGTA	0.480													7	418	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73303156	73303156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73303156delG	ENST00000258098.6	-	4	1963	c.1723delC	c.(1723-1725)agfs	p.Q575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGGCCAGCCTGGGGGGCCTGG	0.602													8	1151	---	---	---	---					
SMYD5	10322	broad.mit.edu	37	2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)del	p.E403del		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562													9	443	---	---	---	---					
OXSR1	9943	broad.mit.edu	37	3	38271915	38271915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:38271915delA	ENST00000311806.3	+	10	1317	c.945delA	c.(943-945)gcfs	p.A315fs	OXSR1_ENST00000446845.1_Frame_Shift_Del_p.A315fs	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	315					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGAAAGAGCAAAAAAGGTAA	0.274													7	1018	---	---	---	---					
PBX2P1	0	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													9	13	---	---	---	---					
WHSC1	7468	broad.mit.edu	37	4	1955146	1955146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:1955146delA	ENST00000382895.3	+	14	2664	c.2233delA	c.(2233-2235)aafs	p.K746fs	WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000382888.3_Frame_Shift_Del_p.K94fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K746fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	746					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGCTTGTGTGAAAAAATACCC	0.488			T	IGH@	MM								8	1374	---	---	---	---					
AC226119.5	0	broad.mit.edu	37	4	3954909	3954910	+	RNA	INS	-	-	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:3954909_3954910insG	ENST00000281228.8	-	0	98				FAM86EP_ENST00000313946.8_RNA																							CTCTGTGTGGAGGGGAGAGAGA	0.480													15	509	---	---	---	---					
FRYL	285527	broad.mit.edu	37	4	48604083	48604083	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:48604083delA	ENST00000358350.4	-	13	1593	c.989delT	c.(988-990)tafs	p.L330fs	FRYL_ENST00000503238.1_Frame_Shift_Del_p.L330fs|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Frame_Shift_Del_p.L36fs|FRYL_ENST00000537810.1_Frame_Shift_Del_p.L330fs|FRYL_ENST00000507711.1_Frame_Shift_Del_p.L330fs	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.L330fs*3(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCAGTTATTTAAAAAAAATTG	0.308													8	834	---	---	---	---					
GK2	2712	broad.mit.edu	37	4	80328580	80328580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:80328580delC	ENST00000358842.3	-	1	792	c.775delG	c.(775-777)acfs	p.D259fs		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	259					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCACATTGGTCCCCCAAACAC	0.458													7	801	---	---	---	---					
SEC31A	22872	broad.mit.edu	37	4	83745800	83745800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:83745800delT	ENST00000432794.1	-	26	3521	c.3358delA	c.(3358-3360)ttfs	p.I1120fs	SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1107					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388													7	278	---	---	---	---					
HCN1	348980	broad.mit.edu	37	5	45303785	45303785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:45303785delT	ENST00000303230.4	-	6	1591	c.1534delA	c.(1534-1536)tgfs	p.M512fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	512						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.M512fs*17(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGAAATACATTTTTTTACCC	0.398													8	609	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:118525523_118525524insG	ENST00000311085.8	+	29	7336_7337	c.7256_7257insG	c.(7255-7257)ggtfs	p.G2419fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2419										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421													8	837	---	---	---	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)ctfs	p.L505fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													10	967	---	---	---	---					
TIGD6	81789	broad.mit.edu	37	5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTTAGTGCTTTTTTCCGAA	0.423													9	1639	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													8	804	---	---	---	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)del	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													8	168	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)gafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398													7	1087	---	---	---	---					
RP13-580B18.1	0	broad.mit.edu	37	7	56943450	56943453	+	RNA	DEL	CTCA	CTCA	-	rs139766983	by1000genomes	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:56943450_56943453delCTCA	ENST00000448242.1	-	0	373					NR_038450.1																						ggaactgtttctcactcaccctta	0.529													5	5	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-687)cccfs	p.P229fs	DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	229					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTCCCCCAGCACCCCCCACACA	0.649													9	1388	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagfs	p.SE1662fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								8	475	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)ggc>g	p.EG210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.							p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													11	262	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)del	p.Q116del	FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													7	410	---	---	---	---					
TRBV7-8	0	broad.mit.edu	37	7	142099832	142099833	+	RNA	DEL	CA	CA	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:142099832_142099833delCA	ENST00000390359.3	-	0	88																											accactctctcacacacacaca	0.455													8	404	---	---	---	---					
TRBV6-8	0	broad.mit.edu	37	7	142124496	142124497	+	RNA	INS	-	-	G	rs72463875		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:142124496_142124497insG	ENST00000390376.2	-	0	49																											AATCCACGCAAGGGCCCTGCCC	0.614													10	614	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7191583	7191584	+	RNA	DEL	AC	AC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:7191583_7191584delAC	ENST00000606573.1	-	0	703																											acgcacgcaaacacacacacac	0.510													9	91	---	---	---	---					
CTD-2547L16.1	0	broad.mit.edu	37	8	17947397	17947398	+	RNA	INS	-	-	T	rs148283356		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:17947397_17947398insT	ENST00000499554.2	+	0	483				CTD-2547L16.1_ENST00000521775.1_RNA																							TAATGCTAttcttttttttttt	0.376													9	21	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133995617	133995617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:133995617delT	ENST00000220616.4	+	35	6262	c.6222delT	c.(6220-6222)agfs	p.S2074fs	TG_ENST00000377869.1_Frame_Shift_Del_p.S2017fs|TG_ENST00000542445.1_Frame_Shift_Del_p.S444fs|TG_ENST00000519543.1_Intron|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2074					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGCTCCCAGTTTTTGCCCTT	0.398													8	1195	---	---	---	---					
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)atfs	p.N973fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358													11	623	---	---	---	---					
TOPORS	10210	broad.mit.edu	37	9	32542262	32542262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:32542262delT	ENST00000360538.2	-	3	2377	c.2261delA	c.(2260-2262)atfs	p.N755fs	TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	755	Arg-rich.|Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTGTGATTATTTTTTTTCCT	0.428													11	774	---	---	---	---					
C9orf69	90120	broad.mit.edu	37	9	139008444	139008446	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139008444_139008446delCAG	ENST00000561457.1	-	2	825_827	c.375_377delCTG	c.(373-378)tgg>tg	p.CW125del	C9orf69_ENST00000418388.1_In_Frame_Del_p.L101del	NM_152833.2	NP_690046.3			chromosome 9 open reading frame 69											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCGGCGGCCCAGCAGCAGCAGC	0.685													7	226	---	---	---	---					
ARRDC1	92714	broad.mit.edu	37	9	140507340	140507354	+	Splice_Site	DEL	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-	rs147183389	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140507340_140507354delCTTTGCAGCCATCCG	ENST00000371421.4	+	2	182_189	c.118_splice	c.e2-1	p.40_splice	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	40										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAGCCATCCCCTTTGCAGCCATCCGGGTGACCTGC	0.633													34	111	---	---	---	---					
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:118424338delT	ENST00000369210.3	-	4	449	c.395delA	c.(394-396)acfs	p.N132fs	C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567													7	691	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:1016412_1016414delGAG	ENST00000421673.2	-	31	6437_6439	c.6387_6389delCTC	c.(6385-6390)tca>tc	p.SS2129del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2129	Ser-rich.|Thr-rich.			S -> F (in Ref. 6; BAC04860).	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGAAAATGAGGAGGACAGCT	0.522													57	152	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													7	350	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19256002	19256002	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:19256002delA	ENST00000527884.1	-	6	1065	c.833delT	c.(832-834)tgfs	p.L278fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	278					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGTTGACACCAAAAACAGCAT	0.383													7	996	---	---	---	---					
ACCSL	390110	broad.mit.edu	37	11	44074959	44074959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:44074959delA	ENST00000378832.1	+	8	1008	c.952delA	c.(952-954)aafs	p.K319fs		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	319							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTCTTAGGGGAAAAAGGTCCG	0.438													7	612	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G	rs140619532	by1000genomes	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2331)ggcfs	p.G777fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	777	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													7	151	---	---	---	---					
SENP1	29843	broad.mit.edu	37	12	48458896	48458896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:48458896delT	ENST00000004980.5	-	12	1705	c.1227delA	c.(1225-1227)aafs	p.K409fs	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000448372.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000551330.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000549595.1_Frame_Shift_Del_p.K409fs			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	409					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	p.G410fs*3(1)|p.G410fs*4(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ATTTATGACCTTTTTTTTGTG	0.338													8	323	---	---	---	---					
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50452565_50452567delGAG	ENST00000228468.4	+	2	401_403	c.16_18delGAG	c.(16-18)del	p.E9del	ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	9					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGAAGGCCGAGGAGGAGGAGG	0.616													7	498	---	---	---	---					
GNS	2799	broad.mit.edu	37	12	65113810	65113810	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:65113810delA	ENST00000258145.3	-	13	1742	c.1572delT	c.(1570-1572)ttfs	p.F524fs	GNS_ENST00000418919.2_Frame_Shift_Del_p.F468fs|GNS_ENST00000543646.1_Frame_Shift_Del_p.F556fs|GNS_ENST00000542058.1_Frame_Shift_Del_p.F504fs	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	524						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACCCGGGGTCAAAAACCCCTG	0.443													7	584	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)del	p.S45del	ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	637	---	---	---	---					
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:88524078_88524079insT	ENST00000552810.1	-	9	978_979	c.635_636insA	c.(634-636)atafs	p.I212fs	CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	212					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAGCTCATAGTTTTTTTTAGA	0.317													8	1060	---	---	---	---					
HSPH1	10808	broad.mit.edu	37	13	31712945	31712946	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:31712945_31712946delGG	ENST00000320027.5	-	16	2524_2525	c.2180_2181delCC	c.(2179-2181)gfs	p.A727fs	HSPH1_ENST00000445273.2_Frame_Shift_Del_p.A729fs|HSPH1_ENST00000380405.4_Frame_Shift_Del_p.A683fs|HSPH1_ENST00000380406.5_Frame_Shift_Del_p.A686fs|HSPH1_ENST00000429785.2_Frame_Shift_Del_p.A546fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	727					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTGCTATCTTGGCATAATGCTG	0.391													7	1032	---	---	---	---					
TMCO3	55002	broad.mit.edu	37	13	114188422	114188423	+	Frame_Shift_Ins	INS	-	-	G	rs141899812	by1000genomes	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:114188422_114188423insG	ENST00000434316.2	+	9	1765_1766	c.1406_1407insG	c.(1405-1407)ggtfs	p.G469fs	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	469						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TCACTAGCGGCGGTTTTTCTTT	0.401													9	1161	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)del	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GTAGGgctgcctgctgctgctgc	0.650													7	132	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tca>tc	p.SS360del	FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													8	172	---	---	---	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aafs	p.K11fs	FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					12	1000	---	---	---	---					
CCPG1	9236	broad.mit.edu	37	15	55651780	55651781	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:55651780_55651781delTA	ENST00000310958.6	-	8	2488_2489	c.2190_2191delTA	c.(2188-2193)tagafs	p.YR730fs	CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	730					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAGAAGTGTCTATATATATATT	0.332													7	442	---	---	---	---					
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)del	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468													7	497	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22339834	22339834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:22339834delC	ENST00000299853.5	+	19	2037	c.1870delC	c.(1870-1872)ccfs	p.P625fs	POLR3E_ENST00000564209.1_Frame_Shift_Del_p.P625fs|POLR3E_ENST00000359210.4_Frame_Shift_Del_p.P625fs|POLR3E_ENST00000418581.2_Frame_Shift_Del_p.P589fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	625					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGGTCAGTTTCCCCCCCAGAC	0.577													7	512	---	---	---	---					
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													7	94	---	---	---	---					
KRT18P55	0	broad.mit.edu	37	17	26633347	26633348	+	RNA	INS	-	-	G	rs35679432		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:26633347_26633348insG	ENST00000577198.1	-	0	407					NR_028334.1																						ttgttgttgttttttttttttt	0.262													6	8	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56492904	56492908	+	Frame_Shift_Del	DEL	AGGGC	AGGGC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:56492904_56492908delAGGGC	ENST00000584437.1	-	1	1986_1990	c.31_35delGCCCT	c.(31-36)cfs	p.AL11fs	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.AL11fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	11						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGCCAGAGGGCAGCCAGCTGC	0.556													42	134	---	---	---	---					
SNORA48	0	broad.mit.edu	37	18	7301055	7301056	+	RNA	INS	-	-	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:7301055_7301056insA	ENST00000391324.1	-	0	95_96																											TGGGCACAGACAAAAGGCCAAG	0.475													16	401	---	---	---	---					
SAFB	6294	broad.mit.edu	37	19	5667115	5667115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:5667115delG	ENST00000292123.5	+	18	2500	c.2393delG	c.(2392-2394)tgfs	p.W798fs	SAFB_ENST00000592224.1_Frame_Shift_Del_p.W797fs|SAFB_ENST00000588852.1_Frame_Shift_Del_p.W798fs|SAFB_ENST00000538656.1_Frame_Shift_Del_p.W640fs|SAFB_ENST00000454510.1_Frame_Shift_Del_p.W729fs|SAFB_ENST00000433404.1_Frame_Shift_Del_p.W628fs	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	798	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGATGGCTGGGGGGGCTAT	0.642													7	531	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													13	127	---	---	---	---					
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)del	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													8	291	---	---	---	---					
NLRP8	126205	broad.mit.edu	37	19	56465899	56465900	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56465899_56465900insA	ENST00000291971.3	+	3	546_547	c.475_476insA	c.(475-477)aaafs	p.K159fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.K159fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	159						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATGTGATGGAAAAGTTTTTC	0.426													7	601	---	---	---	---					
ZNF772	400720	broad.mit.edu	37	19	57985322	57985322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:57985322delT	ENST00000343280.4	-	5	1050	c.790delA	c.(790-792)ggfs	p.R264fs	ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000427512.2_Frame_Shift_Del_p.R152fs|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Frame_Shift_Del_p.R223fs|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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)|Lung(386;0.174)		TTGTAATGCCTTTTTCCACAG	0.507													8	606	---	---	---	---					
BPIFB3	359710	broad.mit.edu	37	20	31644477	31644477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:31644477delT	ENST00000375494.3	+	2	254	c.254delT	c.(253-255)gtfs	p.V85fs		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	85	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CACGGAGGGGTTTTTGGCGTT	0.587													7	376	---	---	---	---					
PMEPA1	56937	broad.mit.edu	37	20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:56227349delG	ENST00000341744.3	-	4	943	c.624delC	c.(622-624)ccfs	p.P208fs	PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	208					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGTTACTGCTGGGGGGGCAGG	0.682													76	227	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cccfs	p.P1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728													16	84	---	---	---	---					
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)aca>ac	p.TT279del	APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR|APP_ENST00000439274.2_In_Frame_Del_p.TT223del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522													7	255	---	---	---	---					
CCDC116	164592	broad.mit.edu	37	22	21990963	21990963	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:21990963delA	ENST00000292779.3	+	5	1607	c.1446delA	c.(1444-1446)gtfs	p.V482fs		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	482										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TAAAGAAGGTAAAAGGCTCCC	0.597													7	397	---	---	---	---					
TSIX	0	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													10	329	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)cgfs	p.P364fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607													7	203	---	---	---	---					
FRMD7	90167	broad.mit.edu	37	X	131212553	131212553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:131212553delA	ENST00000298542.4	-	12	1667	c.1492delT	c.(1492-1494)atfs	p.Y498fs	FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs|FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	498					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)					TTGTCCACATAAAAAAAGACC	0.502													7	524	---	---	---	---					
