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
PLEKHB2	55041	broad.mit.edu	37	2	131883340	131883340	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:131883340C>T	ENST00000403716.1	+	3	612	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.R18C|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.R18C|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.R18C|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.R18C|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.R18C|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.R18C|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.R18C|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.R18C	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	18	PH.					membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TATTTTGAAGCGCTGGAAGAA	0.403000													20	81					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91784768	91784768	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:91784768T>A	ENST00000370425.3	-	25	2779		c.e25-2		HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000462405.1_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTGACAACCCTAAAAAAAAAG	0.299000													9	52					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808431	8808431	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:8808431G>A	ENST00000324436.3	-	1	741	c.621C>T	c.(619-621)ccC>ccT	p.P207P		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	207						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCTGGAAGACGGGCACTGTGT	0.672000													5	60					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110303744	110303744	+	Missense_Mutation	SNP	C	C	T	rs146905811	by1000genomes	TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:110303744C>T	ENST00000356688.4	-	10	1547	c.1232G>A	c.(1231-1233)aGa>aAa	p.R411K	SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000415095.1_Missense_Mutation_p.R411K|SEPT10_ENST00000397712.2_Missense_Mutation_p.R411K|SEPT10_ENST00000437928.1_Missense_Mutation_p.R396K|SEPT10_ENST00000397714.2_Missense_Mutation_p.R388K|SEPT10_ENST00000334001.6_Missense_Mutation_p.R278K|SEPT10_ENST00000545389.1_Missense_Mutation_p.R244K			Q9P0V9	SEP10_HUMAN	septin 10	411					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TTCCAAAAGTCTTCTCTTTTC	0.423000											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	80					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11783730	11783730	+	Silent	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:11783730C>A	ENST00000337339.2	+	9	1080	c.1053C>A	c.(1051-1053)tcC>tcA	p.S351S	MSL3_ENST00000398527.2_Silent_p.S339S|MSL3_ENST00000361672.2_Silent_p.S202S|MSL3_ENST00000312196.4_Silent_p.S351S|MSL3_ENST00000380693.3_Silent_p.S185S	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	351					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TGAGGCGGTCCACGCGCCACA	0.627000													25	109					5.45024e-15	6.303e-15	1	1	0
ABCC6P1	653190	broad.mit.edu	37	16	18597216	18597216	+	RNA	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr16:18597216C>T	ENST00000546162.2	+	0	956					NR_003569.1																						ACTTGTTTCCCGGCTTGAAAA	0.537000													20	48					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	553969	553969	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:553969C>T	ENST00000270115.7	+	14	1822	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	441										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTAGAGCCCTCCGGGACCTCG	0.657000													6	92					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145558848	145558848	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:145558848C>A	ENST00000355594.4	+	7	554	c.467C>A	c.(466-468)cCc>cAc	p.P156H	ANKRD35_ENST00000544626.1_Missense_Mutation_p.P137T	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	156										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGACGTACACCCCTGATGATC	0.572000													28	95					1.62565e-12	1.85477e-12	1	1	0
SBSN	374897	broad.mit.edu	37	19	36018766	36018766	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:36018766G>A	ENST00000452271.2	-	1	446	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	139	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTGGCCCCGTGATGGACCCCA	0.592000													7	153					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr17:7578208T>C	ENST00000420246.2	-	6	773	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)		CACCACACTATGTCGAAAAGT	0.542000		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)			8	16					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140906009	140906009	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr5:140906009T>G	ENST00000253811.6	-	25	3436	c.3296A>C	c.(3295-3297)cAg>cCg	p.Q1099P	DIAPH1_ENST00000398566.3_Missense_Mutation_p.Q1090P|DIAPH1_ENST00000518047.1_Missense_Mutation_p.Q1086P|DIAPH1_ENST00000389057.5_Missense_Mutation_p.Q1089P|DIAPH1_ENST00000398557.4_Missense_Mutation_p.Q1098P|DIAPH1_ENST00000520569.1_Missense_Mutation_p.Q1041P|DIAPH1_ENST00000389054.3_Missense_Mutation_p.Q1095P|DIAPH1_ENST00000398562.2_Missense_Mutation_p.Q1074P			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1098	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACTGTTCCTGTGCATCCTT	0.473000													13	47					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284000													4	55					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3087572	3087572	+	Silent	SNP	A	A	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr8:3087572A>T	ENST00000602557.1	-	28	4893	c.4338T>A	c.(4336-4338)ccT>ccA	p.P1446P	CSMD1_ENST00000539096.1_Silent_p.P1445P|CSMD1_ENST00000602723.1_Silent_p.P1446P|CSMD1_ENST00000400186.3_Silent_p.P1446P|CSMD1_ENST00000542608.1_Silent_p.P1445P|CSMD1_ENST00000537824.1_Silent_p.P1445P|CSMD1_ENST00000520002.1_Silent_p.P1446P|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1446	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTATGCATGTAGGAGGGTCTG	0.433000													10	38					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62467439	62467439	+	Silent	SNP	A	A	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr3:62467439A>T	ENST00000383710.4	-	22	3481	c.3132T>A	c.(3130-3132)acT>acA	p.T1044T	CADPS_ENST00000283269.9_Intron|CADPS_ENST00000357948.3_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1044	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTGCCGAAAAAGTAGGCATTT	0.418000													15	72					0	0	1	0	0
SLC25A35	399512	broad.mit.edu	37	17	8197982	8197982	+	Silent	SNP	A	A	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr17:8197982A>G	ENST00000380067.2	-	1	188	c.144T>C	c.(142-144)caT>caC	p.H48H	SLC25A35_ENST00000577745.1_Silent_p.H48H|SLC25A35_ENST00000396278.1_Silent_p.H48H|SLC25A35_ENST00000580340.1_Silent_p.H48H|SLC25A35_ENST00000579192.1_Silent_p.H48H	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	48					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						TGATGAAGGCATGGAAGACAT	0.577000													8	20					0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31122700	31122700	+	Silent	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr16:31122700C>T	ENST00000394951.1	+	11	1548	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000394950.3_Silent_p.L309L|BCKDK_ENST00000219794.6_Silent_p.L309L			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	309	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TGATGTCGATCTGATCATCAG	0.517000													4	62					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149324	119149324	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:119149324G>T	ENST00000264033.4	+	9	1708	c.1332G>T	c.(1330-1332)agG>agT	p.R444S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	444	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GCCTGTTGAGGCAAGGAGCAG	0.498000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				13	47					0.00316338	0.00327911	1	1	0
EFHC2	80258	broad.mit.edu	37	X	44037689	44037689	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:44037689G>A	ENST00000420999.1	-	12	1956	c.1873C>T	c.(1873-1875)Cac>Tac	p.H625Y	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	625							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AACTTTTCGTGGGCCAGTGCG	0.383000													8	16					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89620971	89620971	+	Splice_Site	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr16:89620971G>T	ENST00000268704.2	+	16	2196	c.2181G>T	c.(2179-2181)gcG>gcT	p.A727A		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	727					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AGTTGCAGGCGGTGAGGCCCT	0.612000													5	5					2.0095e-06	2.17589e-06	1	1	0
SLC22A8	9376	broad.mit.edu	37	11	62782370	62782370	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:62782370C>T	ENST00000336232.2	-	2	196	c.61G>A	c.(61-63)Gta>Ata	p.V21I	SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V21I|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.V21I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	21					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGTATGGCTACATGCAGGAAC	0.612000													33	94					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13571644	13571644	+	Silent	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:13571644C>T	ENST00000040738.5	-	26	9282	c.9147G>A	c.(9145-9147)gcG>gcA	p.A3049A		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	3049							DNA binding										ATTATCGCTTCGCTTTTTTCA	0.552000													3	15					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842170	227842170	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:227842170G>A	ENST00000343776.5	+	4	564	c.219G>A	c.(217-219)gtG>gtA	p.V73V	ZNF678_ENST00000608949.1_Silent_p.V73V|ZNF678_ENST00000397097.3_Silent_p.V128V	NM_178549.3	NP_848644.2	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGAGAACTGTGAATGAAGGTA	0.368000													4	86					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304770	102304770	+	RNA	SNP	C	C	T	rs62026988	by1000genomes	TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr15:102304770C>T	ENST00000561463.1	+	0	12816																											GGCACAGCGGCGTGACGAGAC	0.592000													5	19					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148496425	148496425	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr7:148496425G>A	ENST00000325222.4	+	21	2474	c.2195G>A	c.(2194-2196)gGc>gAc	p.G732D	CUL1_ENST00000602748.1_Missense_Mutation_p.G732D|CUL1_ENST00000409469.1_Missense_Mutation_p.G732D	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	732					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAGTTACTTGGCGAGGTCCTC	0.448000													8	45					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70316509	70316509	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:70316509C>T	ENST00000374259.3	+	1	463	c.131C>T	c.(130-132)cCg>cTg	p.P44L	FOXO4_ENST00000341558.3_Missense_Mutation_p.P44L|FOXO4_ENST00000466874.1_3'UTR	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	44					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GCTAACCAGCCGTCCGAGCCG	0.672000													3	12					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155529730	155529730	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:155529730T>C	ENST00000404648.3	-	7	978	c.739A>G	c.(739-741)Act>Gct	p.T247A	FGG_ENST00000407946.1_Missense_Mutation_p.T255A|FGG_ENST00000405164.1_Missense_Mutation_p.T255A|FGG_ENST00000336098.3_Missense_Mutation_p.T247A	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	247	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.T247P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTTGTGCCAGTAGGAGACAGA	0.393000													25	55					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19188911	19188911	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr22:19188911C>T	ENST00000263200.10	-	23	3766	c.3694G>A	c.(3694-3696)Gtt>Att	p.V1232I	CLTCL1_ENST00000427926.1_Missense_Mutation_p.V1232I|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V1232I|CLTCL1_ENST00000442042.2_5'UTR	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1232	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCGAGGTGAACCAAGGTGGAA	0.582000			T	?	ALCL								5	19					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283579	151283579	+	RNA	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:151283579C>A	ENST00000509345.2	-	0	757																											AGGAAAGCAGCGCTTGTAATT	0.498000													18	146					3.76114e-14	4.32022e-14	1	1	0
OR51B2	79345	broad.mit.edu	37	11	5345004	5345004	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:5345004G>A	ENST00000328813.2	-	1	578	c.524C>T	c.(523-525)gCt>gTt	p.A175V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGCAGAAAGCACGTGTGAT	0.383000													24	47					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96784143	96784143	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr14:96784143C>T	ENST00000359933.4	-	19	3822	c.2929G>A	c.(2929-2931)Gag>Aag	p.E977K		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	977										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCGAATGTCTCCACTGGTGAA	0.368000													21	110					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70520777	70520777	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr10:70520777G>A	ENST00000265872.6	+	16	2053	c.1934G>A	c.(1933-1935)cGa>cAa	p.R645Q	CCAR1_ENST00000535016.1_Missense_Mutation_p.R630Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.R630Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	645	SAP.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AATGACCTCCGAAAAGAATTA	0.408000													16	105					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75500328	75500328	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr15:75500328G>A	ENST00000360639.2	+	2	2259	c.1939G>A	c.(1939-1941)Gtg>Atg	p.V647M	C15orf39_ENST00000567617.1_Missense_Mutation_p.V647M|C15orf39_ENST00000394987.4_Missense_Mutation_p.V647M			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	647										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCACAGCTCTGTGGCCTTCAT	0.592000													14	35					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42317497	42317497	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr8:42317497G>A	ENST00000342228.3	-	5	899	c.530C>T	c.(529-531)cCc>cTc	p.P177L	SLC20A2_ENST00000520262.1_Missense_Mutation_p.P177L|SLC20A2_ENST00000520179.1_Missense_Mutation_p.P177L	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	177					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GAGGCCATTGGGAACAGGGTC	0.478000													10	32					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49940714	49940714	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr3:49940714C>T	ENST00000296474.3	-	1	356	c.329G>A	c.(328-330)gGa>gAa	p.G110E	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.G110E	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	110	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCGTGGGGTCCTGGGCCACA	0.687000													20	60					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8486364	8486364	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:8486364G>C	ENST00000447869.1	-	3	1263	c.345C>G	c.(343-345)atC>atG	p.I115M	STK33_ENST00000315204.1_Missense_Mutation_p.I115M|STK33_ENST00000396672.1_Missense_Mutation_p.I115M|STK33_ENST00000358872.3_De_novo_Start_InFrame|STK33_ENST00000534493.1_Missense_Mutation_p.I74M|STK33_ENST00000396673.1_Missense_Mutation_p.I115M			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	115						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CAAAGGTATAGATTTCCTGGA	0.353000													11	47					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143055951	143055951	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr7:143055951G>A	ENST00000409408.1	-	4	2059	c.351C>T	c.(349-351)agC>agT	p.S117S	FAM131B_ENST00000409222.3_Silent_p.S117S|FAM131B_ENST00000409578.1_Silent_p.S133S|FAM131B_ENST00000443739.2_Silent_p.S145S|FAM131B_ENST00000409346.1_Silent_p.S117S			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	117										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCTCGCCATCGCTGAGGTCGG	0.572000													10	19					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808070	8808070	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:8808070G>A	ENST00000324436.3	-	1	1102	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	328						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGCATCTCCAGTGACAACTTG	0.657000													13	40					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620433	20620433	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:20620433A>C	ENST00000504154.1	+	37	4643	c.4391A>C	c.(4390-4392)aAg>aCg	p.K1464T	SLIT2_ENST00000273739.5_Missense_Mutation_p.K1477T|SLIT2_ENST00000503823.1_Missense_Mutation_p.K1456T|SLIT2_ENST00000503837.1_Missense_Mutation_p.K1460T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1464	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TATTACCAAAAGCAGCAGGGC	0.478000													5	56					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68849604	68849604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr16:68849604C>T	ENST00000261769.5	+	10	1698	c.1507C>T	c.(1507-1509)Cag>Tag	p.Q503*	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q442*|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	503	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGGCGTGGGCCAGGAAATCAC	0.498000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				35	79					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48466170	48466170	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr20:48466170G>A	ENST00000417961.1	+	6	697	c.487G>A	c.(487-489)Gca>Aca	p.A163T	SLC9A8_ENST00000361573.2_Missense_Mutation_p.A163T|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000541138.1_5'UTR	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	163						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTTTGGGACGGCAATCTCCGC	0.378000													4	142					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269413	30269413	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:30269413A>G	ENST00000378981.3	+	4	1124	c.803A>G	c.(802-804)tAt>tGt	p.Y268C	MAGEB1_ENST00000397550.1_Missense_Mutation_p.Y268C|MAGEB1_ENST00000397548.2_Missense_Mutation_p.Y268C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	268	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCCCACGCTATCAATTCCTA	0.502000													17	68					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176018311	176018311	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr5:176018311T>C	ENST00000510636.1	+	29	3914	c.3640T>C	c.(3640-3642)Tac>Cac	p.Y1214H	CDHR2_ENST00000261944.5_Missense_Mutation_p.Y1214H|CDHR2_ENST00000506348.1_Missense_Mutation_p.Y1214H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1214					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACTAACATGTACAACACTGA	0.592000													6	32					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14877338	14877338	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:14877338A>G	ENST00000398334.1	-	4	1337	c.1070T>C	c.(1069-1071)tTt>tCt	p.F357S	FANCB_ENST00000324138.3_Missense_Mutation_p.F357S	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	357					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CGTTATTTTAAATGAAGTCAG	0.308000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				21	80					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35378912	35378912	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr6:35378912G>C	ENST00000311565.4	+	4	397	c.48G>C	c.(46-48)gaG>gaC	p.E16D	PPARD_ENST00000448077.2_Intron|PPARD_ENST00000337400.2_Missense_Mutation_p.E16D|PPARD_ENST00000444397.1_Missense_Mutation_p.E16D|PPARD_ENST00000418635.2_Missense_Mutation_p.E16D|PPARD_ENST00000540939.1_5'UTR|PPARD_ENST00000360694.3_Missense_Mutation_p.E16D	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	16					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AAGAGGAGGAGAAAGAGGAAG	0.617000													6	23					0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99426242	99426242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr10:99426242C>T	ENST00000370631.3	+	7	1189	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Q348*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Q348*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	378	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CCCATTTTCTCAGGAGATCAA	0.468000													32	39					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209767	53209767	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:53209767C>G	ENST00000543227.1	-	6	815	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	ZNF611_ENST00000453741.2_Missense_Mutation_p.E112Q|ZNF611_ENST00000540744.1_Missense_Mutation_p.E181Q|ZNF611_ENST00000595798.1_Missense_Mutation_p.E112Q|ZNF611_ENST00000602162.1_Missense_Mutation_p.E112Q|ZNF611_ENST00000319783.1_Missense_Mutation_p.E181Q	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTAGACTTCTCAAGTTGATTA	0.383000													6	179					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54096554	54096554	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:54096554T>C	ENST00000404125.1	-	44	5277	c.5222A>G	c.(5221-5223)aAg>aGg	p.K1741R	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.K885R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1741					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGGGTCTCGCTTTCTTTTCTT	0.423000													44	156					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79314043	79314043	+	Silent	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:79314043C>T	ENST00000305089.3	-	3	158	c.78G>A	c.(76-78)caG>caA	p.Q26Q		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	26					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCAGCTCTGTCTGGGACTCCT	0.498000													5	114					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84629023	84629023	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr7:84629023C>T	ENST00000284136.6	-	17	2110	c.2067G>A	c.(2065-2067)atG>atA	p.M689I	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	689					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GGGTATTTTCCATCTGTTCAT	0.458000													17	61					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32041568	32041568	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr6:32041568C>T	ENST00000375244.3	-	12	4738	c.4537G>A	c.(4537-4539)Ggg>Agg	p.G1513R	TNXB_ENST00000375247.2_Missense_Mutation_p.G1513R			P22105	TENX_HUMAN	tenascin XB	1600	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCTGCCCGTCCTTGTCC	0.562000													4	12					0	0	1	0	0
CXorf40B	541578	broad.mit.edu	37	X	149102008	149102008	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:149102008G>A	ENST00000370406.3	-	4	913	c.85C>T	c.(85-87)Cct>Tct	p.P29S	CXorf40B_ENST00000462691.1_Missense_Mutation_p.P29S|CXorf40B_ENST00000370404.1_Missense_Mutation_p.P29S|CXorf40B_ENST00000355203.2_Missense_Mutation_p.P29S			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	29										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGCAGAGGACGCCAGCGC	0.597000													5	67					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	32					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137271546	137271546	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr5:137271546T>A	ENST00000508638.1	+	11	1484	c.1429T>A	c.(1429-1431)Tct>Act	p.S477T	PKD2L2_ENST00000502810.1_Missense_Mutation_p.S556T|PKD2L2_ENST00000290431.5_Missense_Mutation_p.S578T|PKD2L2_ENST00000350250.4_Missense_Mutation_p.S544T|PKD2L2_ENST00000508883.1_Missense_Mutation_p.S578T	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	578						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGTATTATTCTATGGAAAT	0.393000													9	58					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122800	39122800	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr17:39122800C>G	ENST00000355612.2	-	1	344	c.309G>C	c.(307-309)ttG>ttC	p.L103F	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	103	Coil 1A.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGCGCTCGTTCAAGATTTGCA	0.443000													4	185					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931145	144931145	+	Silent	SNP	T	T	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:144931145T>A	ENST00000529945.1	-	1	1003	c.564A>T	c.(562-564)cgA>cgT	p.R188R	PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Silent_p.R188R|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGCCACCTTTCGAGGTACCT	0.552000			T	PDGFRB	MPD								12	83					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145004320	145004320	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr8:145004320G>A	ENST00000322810.4	-	21	3184	c.3015C>T	c.(3013-3015)gcC>gcT	p.A1005A	PLEC_ENST00000398774.2_Silent_p.A836A|PLEC_ENST00000354589.3_Silent_p.A868A|PLEC_ENST00000357649.2_Silent_p.A872A|PLEC_ENST00000354958.2_Silent_p.A846A|PLEC_ENST00000436759.2_Silent_p.A895A|PLEC_ENST00000345136.3_Silent_p.A868A|PLEC_ENST00000356346.3_Silent_p.A854A|PLEC_ENST00000527096.1_Silent_p.A891A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1005	Globular 1.		Missing (in MD-EBS).		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						ACCTGGTGACGGCCTCCTGGG	0.731000													2	1					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549941	71549941	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr9:71549941T>C	ENST00000265382.3	+	13	1642	c.1337T>C	c.(1336-1338)tTt>tCt	p.F446S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.F446S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	446						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GGACAAAGTTTTAGCAGCCTT	0.373000													26	61					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342422	36342422	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:36342422G>A	ENST00000378910.5	-	2	210	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	NPHS1_ENST00000353632.6_Silent_p.L71L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	71	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGGGGCCCAGGAGCAGCCCA	0.662000													8	22					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34937698	34937698	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr5:34937698G>A	ENST00000382021.2	+	5	933	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	DNAJC21_ENST00000303525.7_Missense_Mutation_p.E236K|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E236K	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	236	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAGGAAAGCCGAAGAGATGAG	0.542000													4	99					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35873661	35873661	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:35873661G>A	ENST00000314607.6	+	26	3929	c.3849G>A	c.(3847-3849)ttG>ttA	p.L1283L	ZMYM4_ENST00000373297.2_Silent_p.L1194L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1283					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCTGAGTTGAGTTTGGGCT	0.403000													4	212					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21817074	21817074	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr5:21817074C>T	ENST00000382254.1	-	9	2068	c.982G>A	c.(982-984)Gga>Aga	p.G328R	CDH12_ENST00000522262.1_Missense_Mutation_p.G288R|CDH12_ENST00000504376.2_Missense_Mutation_p.G328R|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGATGACTCCCTCTTGTGTA	0.318000										HNSCC(59;0.17)			38	133					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821380	43821380	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr15:43821380C>T	ENST00000382031.1	+	5	8454	c.8423C>T	c.(8422-8424)cCa>cTa	p.P2808L	MAP1A_ENST00000300231.5_Missense_Mutation_p.P2570L|MAP1A_ENST00000399453.1_Missense_Mutation_p.P2570L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2570						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACCCCCGCCCATCCCCTCCC	0.637000													7	19					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41568617	41568617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr22:41568617G>T	ENST00000263253.7	+	28	5786	c.4567G>T	c.(4567-4569)Gag>Tag	p.E1523*	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1523	Poly-Glu.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACTGGAACAGGAGGAAGAAGA	0.388000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				16	26					2.32078e-09	2.56191e-09	1	1	0
ZHX2	22882	broad.mit.edu	37	8	123965761	123965761	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr8:123965761G>A	ENST00000314393.4	+	3	2846	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	671						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)			GGTCCGAACTGAGATTGTGCG	0.552000													8	29					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466132	220466132	+	Silent	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:220466132C>T	ENST00000456909.1	+	3	327	c.237C>T	c.(235-237)ttC>ttT	p.F79F	STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Silent_p.F90F			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	90					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTTTCTCTTCGATGTGCTGC	0.557000													6	34					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33951759	33951759	+	Nonsense_Mutation	SNP	A	A	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr5:33951759A>C	ENST00000382102.3	-	5	1113	c.1056T>G	c.(1054-1056)taT>taG	p.Y352*	SLC45A2_ENST00000345083.5_Nonsense_Mutation_p.Y244*|SLC45A2_ENST00000296589.4_Nonsense_Mutation_p.Y352*|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.Y293*|SLC45A2_ENST00000509381.1_Nonstop_Mutation_p.*244E	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	352					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGTGTGCACTATAGGGATCCC	0.468000													63	120					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56857233	56857233	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr6:56857233G>A	ENST00000370748.3	+	3	613	c.178G>A	c.(178-180)Gag>Aag	p.E60K	BEND6_ENST00000370745.1_Missense_Mutation_p.E60K|BEND6_ENST00000370746.3_Missense_Mutation_p.E60K|BEND6_ENST00000370750.2_Missense_Mutation_p.E60K			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	60										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TGAGGATGAAGAGCCTTTAGC	0.428000													48	158					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134031683	134031683	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:134031683T>C	ENST00000534548.2	-	28	3741	c.3677A>G	c.(3676-3678)tAt>tGt	p.Y1226C		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1226					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TACCCTGAGATAGTGCATGAG	0.433000													9	53					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752390	247752390	+	Silent	SNP	C	C	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:247752390C>G	ENST00000320065.1	+	1	729	c.729C>G	c.(727-729)acC>acG	p.T243T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATTCGGGACCTGCTTCTCCC	0.502000													16	65					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220326779	220326779	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:220326779G>A	ENST00000312358.7	+	7	2748	c.2616G>A	c.(2614-2616)aaG>aaA	p.K872K	SPEG_ENST00000396688.1_Splice_Site_p.K23K|SPEG_ENST00000396689.2_Splice_Site_p.K23K|SPEG_ENST00000396695.2_Splice_Site_p.K80K|SPEG_ENST00000396698.1_Splice_Site_p.K768K|SPEG_ENST00000396686.1_Splice_Site_p.K23K|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	872	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCACCTTCAAGGTCAGACCCC	0.642000													5	24					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286488	152286488	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:152286488G>A	ENST00000368799.1	-	3	909	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	292	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCCCTACGCTTTCTTGTC	0.498000									Ichthyosis				71	210					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212436	149212436	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr5:149212436C>T	ENST00000309241.5	+	5	832	c.800C>T	c.(799-801)tCc>tTc	p.S267F	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S267F|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S228F|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S203F	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	267					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCCGGGACTCCCTAGCTCTG	0.672000													4	62					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29959896	29959896	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:29959896G>C	ENST00000378993.1	+	9	1859	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E396Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	396					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTTGGAGCTGAAGAGCTCGA	0.368000													9	83					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25470259	25470259	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr3:25470259G>T	ENST00000330688.4	+	1	458	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W	RARB_ENST00000437042.2_Intron|RARB_ENST00000404969.1_Intron|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	0	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGTGAGTCCTGGGCAAATCCT	0.483000													36	133					6.90743e-12	7.77657e-12	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72958768	72958768	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr8:72958768C>G	ENST00000262209.4	-	17	2248	c.2041G>C	c.(2041-2043)Gaa>Caa	p.E681Q	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	681						integral to plasma membrane		p.E681K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTAAGCGGTTCATATATAACA	0.269000													20	77					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65850673	65850673	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr17:65850673G>A	ENST00000321892.4	+	2	1292	c.1231G>A	c.(1231-1233)Gta>Ata	p.V411I	BPTF_ENST00000424123.3_Missense_Mutation_p.V272I|BPTF_ENST00000306378.6_Missense_Mutation_p.V411I|BPTF_ENST00000335221.5_Missense_Mutation_p.V411I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	411					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGTTCAGCAGTATACCATTT	0.483000													29	116					0	0	1	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234301	54234301	+	RNA	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:54234301G>A	ENST00000385068.1	+	0	42					NR_030210.1																						TCTGTTGTCTGAAAGAAGAGA	0.448000													4	169					0	0	1	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40450513	40450513	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:40450513G>A	ENST00000378438.4	+	3	354	c.196G>A	c.(196-198)Ggt>Agt	p.G66S	ATP6AP2_ENST00000535777.1_Missense_Mutation_p.G66S|ATP6AP2_ENST00000544975.1_5'UTR|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.G66S|ATP6AP2_ENST00000486558.1_3'UTR	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	66					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						ACTCGCAGTGGGTAACCTGTT	0.488000													15	84					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187549439	187549439	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:187549439G>A	ENST00000441802.2	-	9	4888	c.4679C>T	c.(4678-4680)cCg>cTg	p.P1560L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1560	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGAACCACGGGGCGTGGTC	0.498000										HNSCC(5;0.00058)			3	11					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349822	65349822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:65349822G>A	ENST00000309295.4	+	9	1944	c.1679G>A	c.(1678-1680)tGg>tAg	p.W560*		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	560										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTGGGAGGCTGGGAGGCAGAA	0.612000													7	13					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8161886	8161886	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:8161886G>A	ENST00000600128.1	-	43	5706	c.5292C>T	c.(5290-5292)gtC>gtT	p.V1764V	FBN3_ENST00000601739.1_Silent_p.V1764V|FBN3_ENST00000270509.2_Silent_p.V1764V			Q75N90	FBN3_HUMAN	fibrillin 3	1764	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACACTCATCGACATCTGGGA	0.547000													9	31					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136233	55136233	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:55136233A>G	ENST00000314706.3	+	1	874	c.874A>G	c.(874-876)Act>Gct	p.T292A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCCCAATTCTACTTTTCCCAT	0.408000													51	167					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104579486	104579486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:104579486C>T	ENST00000304883.2	-	2	763	c.623G>A	c.(622-624)tGg>tAg	p.W208*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	208						integral to plasma membrane	tachykinin receptor activity	p.W208*(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGCTAGAATCCAAATACTTCC	0.413000													14	41					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29781209	29781209	+	Splice_Site	SNP	A	A	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr3:29781209A>T	ENST00000434693.2	+	5	1096		c.e5-1		RBMS3_ENST00000383767.2_Splice_Site|RBMS3_ENST00000273139.9_Splice_Site|RBMS3_ENST00000396583.3_Splice_Site|RBMS3_ENST00000452462.1_Splice_Site|RBMS3_ENST00000456853.1_Splice_Site|RBMS3_ENST00000445033.1_Splice_Site|RBMS3_ENST00000383766.2_Splice_Site	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3							cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TCCTTCCCTTAGCAACAAGAG	0.368000													25	95					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916047	86916047	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:86916047A>G	ENST00000395184.1	+	9	1706	c.1240A>G	c.(1240-1242)Aga>Gga	p.R414G	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R319G|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R321G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	414					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGATGTGTCTAGAAGCCCCCC	0.488000													23	125					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54963336	54963336	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:54963336G>A	ENST00000326764.5	+	3	584	c.105G>A	c.(103-105)gaG>gaA	p.E35E	LENG8_ENST00000376514.2_Silent_p.E35E	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	35							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGATGCACGAGAACCCGGAGT	0.622000													5	77					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931656	23931656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr15:23931656C>A	ENST00000331837.4	-	1	794	c.709G>T	c.(709-711)Gag>Tag	p.E237*		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	237	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACGAACTCCTCAGTGATGAGC	0.622000									Prader-Willi syndrome				6	43					0.00198382	0.00206901	1	1	0
NAP1L2	4674	broad.mit.edu	37	X	72434069	72434069	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:72434069C>A	ENST00000373517.3	-	1	615	c.260G>T	c.(259-261)cGt>cTt	p.R87L	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	87					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCTTTTGGACGGTCTGCCTC	0.463000													30	121					9.65963e-10	1.07329e-09	1	1	0
ZNF816	125893	broad.mit.edu	37	19	53454538	53454538	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:53454538G>T	ENST00000357666.4	-	5	790	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L164M|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGTTCAGGCAGATGCGAATGA	0.403000													52	216					2.17126e-26	2.52818e-26	1	1	0
RSPH3	83861	broad.mit.edu	37	6	159420837	159420837	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr6:159420837T>C	ENST00000252655.1	-	1	361	c.172A>G	c.(172-174)Aga>Gga	p.R58G	RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000297262.3_Missense_Mutation_p.R58G	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	58										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CCCAGGGTTCTGTCTGGGGGC	0.677000													10	51					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91389426	91389426	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:91389426G>A	ENST00000509176.1	+	5	1933	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	CCSER1_ENST00000432775.2_Missense_Mutation_p.A549T|CCSER1_ENST00000333691.8_Missense_Mutation_p.A549T	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1									p.A549P(2)|p.A551P(1)									CTCATGTGCCGCAGTAGTTCT	0.373000													3	30					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125667	134125667	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr8:134125667A>G	ENST00000220616.4	+	44	7614	c.7574A>G	c.(7573-7575)cAa>cGa	p.Q2525R	TG_ENST00000542445.1_Splice_Site_p.Q895R|TG_ENST00000377869.1_Splice_Site_p.Q2468R|TG_ENST00000519543.1_Splice_Site_p.Q658R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2525					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)		TTTTTCTAGCAATTTGAGGAA	0.483000													7	42					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17881290	17881290	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:17881290C>A	ENST00000594202.1	+	8	672	c.393C>A	c.(391-393)agC>agA	p.S131R	FCHO1_ENST00000252771.7_Missense_Mutation_p.S131R|FCHO1_ENST00000600676.1_Missense_Mutation_p.S131R|FCHO1_ENST00000597512.1_Missense_Mutation_p.S138R|FCHO1_ENST00000596536.1_Missense_Mutation_p.S131R|FCHO1_ENST00000539407.1_Missense_Mutation_p.S131R|FCHO1_ENST00000389133.4_Missense_Mutation_p.S131R|FCHO1_ENST00000595033.1_Missense_Mutation_p.S81R|FCHO1_ENST00000596951.1_Missense_Mutation_p.S131R	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	131										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGGGCGTCAGCCAGCTCCTGC	0.592000													11	25					3.86212e-05	4.1035e-05	1	1	0
CTPS2	56474	broad.mit.edu	37	X	16711297	16711297	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:16711297G>A	ENST00000443824.1	-	6	1349	c.606C>T	c.(604-606)cgC>cgT	p.R202R	CTPS2_ENST00000359276.4_Silent_p.R202R|CTPS2_ENST00000380241.3_Silent_p.R202R	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	202					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CCCTCAGTGCGCGGACGCTGT	0.512000													14	63					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841085	13841085	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr5:13841085G>A	ENST00000265104.4	-	34	5743	c.5639C>T	c.(5638-5640)tCc>tTc	p.S1880F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1880	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1880F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTCCGTGGAACTCAGATC	0.393000									Kartagener syndrome				4	133					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270015	114270015	+	Silent	SNP	A	A	G	rs146945410	byFrequency	TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr7:114270015A>G	ENST00000393500.3	+	11	1147	c.327A>G	c.(325-327)caA>caG	p.Q109Q	FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q			O15409	FOXP2_HUMAN	forkhead box P2	184	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			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						agcagcagcaacagcagcagc	0.502000													3	69					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51584708	51584708	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr10:51584708T>A	ENST00000452682.1	+	9	1107	c.855T>A	c.(853-855)taT>taA	p.Y285*	NCOA4_ENST00000344348.6_Nonsense_Mutation_p.Y269*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.Y169*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.Y285*|NCOA4_ENST00000374082.1_Nonsense_Mutation_p.Y269*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.Y269*|NCOA4_ENST00000414907.2_Nonsense_Mutation_p.Y103*|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.Y269*	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	269					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AATCAAGTTATCAAAAGTGTA	0.408000			T	RET	papillary thyroid								23	81					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179721045	179721045	+	Missense_Mutation	SNP	C	C	A	rs142773032		TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:179721045C>A	ENST00000420890.2	-	18	2921	c.2804G>T	c.(2803-2805)cGg>cTg	p.R935L	CCDC141_ENST00000295723.5_Missense_Mutation_p.R360L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	360							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTCAGATTCCGAGATTTTTC	0.294000													11	81					3.86212e-05	4.1035e-05	1	1	0
SLC22A5	6584	broad.mit.edu	37	5	131728139	131728139	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr5:131728139G>T	ENST00000245407.3	+	8	1503	c.1282G>T	c.(1282-1284)Gct>Tct	p.A428S	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A452S|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	428					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTATTATTTGGCTACAGTCCT	0.483000													4	114					0.00024832	0.000260583	1	1	0
MAP3K13	9175	broad.mit.edu	37	3	185165701	185165701	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr3:185165701C>T	ENST00000265026.3	+	5	1310	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R119W|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R326W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R182W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R182W	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	326	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGAGGTGATACGGAATGAACC	0.453000													4	38					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45697127	45697127	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr17:45697127G>A	ENST00000322157.4	+	22	2821	c.2584G>A	c.(2584-2586)Gat>Aat	p.D862N	RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D858N|RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D782N	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	862					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ATTTGCAGTTGATAAAATGGC	0.338000													11	142					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69926067	69926067	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr10:69926067C>G	ENST00000358913.5	+	10	2105	c.1617C>G	c.(1615-1617)agC>agG	p.S539R	MYPN_ENST00000540630.1_Missense_Mutation_p.S539R|MYPN_ENST00000354393.2_Missense_Mutation_p.S264R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	539						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGGACCTCAGCAACAACGGGT	0.537000													11	38					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105178385	105178385	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:105178385C>T	ENST00000428173.2	+	20	3754	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S	NRK_ENST00000243300.9_Missense_Mutation_p.P1150S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1150							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCACTCATCTCCTTCCAAAGG	0.423000										HNSCC(51;0.14)			4	97					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191556	6191556	+	Translation_Start_Site	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:6191556T>C	ENST00000530810.1	-	1	82	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTGACTCATGATGCACTTT	0.408000													8	16					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280498	117280498	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:117280498G>A	ENST00000278935.3	+	30	4060	c.3913G>A	c.(3913-3915)Gac>Aac	p.D1305N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1305					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCCTCCCCGGGACCCTAAGAG	0.652000													30	129					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587849	55587849	+	Silent	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:55587849C>T	ENST00000333976.4	+	1	764	c.744C>T	c.(742-744)gcC>gcT	p.A248A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACCTGACTGCCATCACCATCT	0.517000													13	57					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57367474	57367474	+	Silent	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:57367474C>A	ENST00000403558.1	+	2	642	c.276C>A	c.(274-276)ccC>ccA	p.P92P	SERPING1_ENST00000378323.4_Silent_p.P63P|SERPING1_ENST00000378324.2_Silent_p.P6P|SERPING1_ENST00000278407.4_Silent_p.P58P|SERPING1_ENST00000340687.6_Silent_p.P58P	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	58	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TCGTTGAACCCATCCTGGAGG	0.498000													9	39					2.80697e-09	3.07862e-09	1	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	136					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32573746	32573746	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr10:32573746C>T	ENST00000319778.6	-	10	1926	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	EPC1_ENST00000375110.2_Missense_Mutation_p.D492N|EPC1_ENST00000263062.8_Missense_Mutation_p.D542N	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	542					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GAGAGTTCATCATTGTCACTG	0.423000													9	135					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10804121	10804121	+	Nonsense_Mutation	SNP	A	A	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr6:10804121A>C	ENST00000313243.2	-	7	877	c.495T>G	c.(493-495)taT>taG	p.Y165*	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_Nonsense_Mutation_p.Y165*|MAK_ENST00000474039.1_Nonsense_Mutation_p.Y165*|MAK_ENST00000538030.1_Nonsense_Mutation_p.Y165*|MAK_ENST00000354489.2_Nonsense_Mutation_p.Y165*			P20794	MAK_HUMAN	male germ cell-associated kinase	165	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CAGGGGCACGATACCTATGAA	0.408000													12	55					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68397415	68397415	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr16:68397415G>A	ENST00000219334.5	-	7	2296	c.1693C>T	c.(1693-1695)Ccc>Tcc	p.P565S	SMPD3_ENST00000563226.1_Missense_Mutation_p.P557S|SMPD3_ENST00000568373.1_Missense_Mutation_p.P565S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	565					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGGTTGTCGGGGGTGCACACA	0.652000													10	24					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47426132	47426132	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:47426132G>A	ENST00000377045.4	+	7	846	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	218					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CACTCCCAACGTCCATATGGT	0.657000													7	30					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316166	72316166	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:72316166G>A	ENST00000340595.3	+	7	1178	c.982G>A	c.(982-984)Gag>Aag	p.E328K	SLC4A4_ENST00000512686.1_Missense_Mutation_p.E328K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E372K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E372K|SLC4A4_ENST00000264485.5_Missense_Mutation_p.E372K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	372						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGGTATTGATGAGTTCCTAGA	0.413000													3	43					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3256958	3256958	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr8:3256958A>G	ENST00000602557.1	-	17	2918	c.2363T>C	c.(2362-2364)aTa>aCa	p.I788T	CSMD1_ENST00000539096.1_Missense_Mutation_p.I787T|CSMD1_ENST00000602723.1_Missense_Mutation_p.I788T|CSMD1_ENST00000400186.3_Missense_Mutation_p.I788T|CSMD1_ENST00000542608.1_Missense_Mutation_p.I787T|CSMD1_ENST00000537824.1_Missense_Mutation_p.I787T|CSMD1_ENST00000520002.1_Missense_Mutation_p.I788T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	788	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTTCAATTATCCATTCACA	0.408000													12	54					0	0	1	0	0
PIR	8544	broad.mit.edu	37	X	15509377	15509377	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:15509377C>A	ENST00000380421.3	-	2	464	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	PIR_ENST00000380420.5_Missense_Mutation_p.G2W|BMX_ENST00000357607.2_Intron	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	2					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TTGGAGGACCCCATATCGGAG	0.502000													4	121					5.9392e-07	6.47221e-07	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53564649	53564649	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:53564649C>A	ENST00000342160.3	-	77	12462	c.12005G>T	c.(12004-12006)cGc>cTc	p.R4002L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4002L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4002					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGCTCTTGGCGGAAATATCT	0.473000													5	20					0.014758	0.0148453	1	1	0
OR4X1	390113	broad.mit.edu	37	11	48285821	48285821	+	Nonsense_Mutation	SNP	C	C	T	rs151032486	by1000genomes	TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:48285821C>T	ENST00000320048.1	+	1	409	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CATGAACCAGCGAATGTGTGG	0.557000													12	40					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64049887	64049887	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr17:64049887C>T	ENST00000392769.2	-	12	1403	c.1185G>A	c.(1183-1185)atG>atA	p.M395I	CEP112_ENST00000541355.1_Missense_Mutation_p.M30I|CEP112_ENST00000537949.1_Missense_Mutation_p.M353I|CEP112_ENST00000535342.2_Missense_Mutation_p.M395I	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	395						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATTCACTCTCCATTTTATTCA	0.388000													31	128					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510909	48510909	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:48510909G>C	ENST00000446524.1	+	1	641	c.565G>C	c.(565-567)Gac>Cac	p.D189H		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGTCTGCACTGACACCCATGC	0.438000													40	162					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284000													4	56					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77651410	77651410	+	Silent	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr3:77651410C>T	ENST00000461745.1	+	20	3804	c.2904C>T	c.(2902-2904)ctC>ctT	p.L968L	ROBO2_ENST00000487694.3_Silent_p.L984L|ROBO2_ENST00000332191.8_Silent_p.L968L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	968					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAACGATGCTCTCAGATGGAG	0.468000													7	33					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55370989	55370989	+	Silent	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:55370989C>T	ENST00000302231.4	-	1	885	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTGCATTCCTCAGTGTGTAGA	0.408000													9	22					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641480	36641480	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr20:36641480T>C	ENST00000373448.2	-	3	977	c.739A>G	c.(739-741)Atg>Gtg	p.M247V	TTI1_ENST00000373447.3_Missense_Mutation_p.M247V|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.M247V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	247							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCATCAGCCATAATGAAGCTC	0.443000													94	150					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206697	116206697	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:116206697G>A	ENST00000355485.2	+	4	891	c.620G>A	c.(619-621)cGc>cAc	p.R207H	VANGL1_ENST00000369510.4_Missense_Mutation_p.R205H|VANGL1_ENST00000310260.3_Missense_Mutation_p.R207H|VANGL1_ENST00000369509.1_Missense_Mutation_p.R207H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	207					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TACGGGGTCCGCATTTTGGAC	0.512000													4	218					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349050	150349050	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:150349050C>T	ENST00000218316.3	+	2	1064	c.995C>T	c.(994-996)gCc>gTc	p.A332V		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	332	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCAGGAGGCCCGTACCCTG	0.562000													27	107					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89015741	89015741	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:89015741C>T	ENST00000237612.3	-	15	2353	c.1808G>A	c.(1807-1809)tGt>tAt	p.C603Y	ABCG2_ENST00000515655.1_Missense_Mutation_p.V600I	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	603	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TGCATAGTTACAAGGATTGTT	0.413000													6	39					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49432335	49432335	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr12:49432335G>C	ENST00000301067.7	-	34	8803	c.8804C>G	c.(8803-8805)tCa>tGa	p.S2935*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.S2665*(1)|p.S2935*(1)									CGGTGGGGCTGAGGGTTTCTG	0.612000													4	77					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3756519	3756519	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:3756519C>T	ENST00000324932.7	-	13	1864	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	NUP98_ENST00000359171.4_Missense_Mutation_p.A482T|NUP98_ENST00000355260.3_Missense_Mutation_p.A482T|NUP98_ENST00000397007.4_Missense_Mutation_p.A499T|NUP98_ENST00000397004.4_Missense_Mutation_p.A482T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	499					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGGAGAACAGCCTGCTGGGCA	0.378000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								9	27					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92987953	92987953	+	Silent	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr15:92987953G>T	ENST00000268164.3	+	5	873	c.636G>T	c.(634-636)cgG>cgT	p.R212R	ST8SIA2_ENST00000539113.1_Silent_p.R191R	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	212					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCATCCAGCGGGCCTTTGAGG	0.607000													3	33					0.004672	0.00481358	1	1	0
EMC4	51234	broad.mit.edu	37	15	34519944	34519944	+	Silent	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr15:34519944C>T	ENST00000267750.4	+	3	368	c.252C>T	c.(250-252)ctC>ctT	p.L84L	EMC4_ENST00000559078.1_Silent_p.L84L|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000557879.1_Intron|EMC4_ENST00000249209.4_Silent_p.L84L	NM_016454.2	NP_057538.1			ER membrane protein complex subunit 4																		CCATGAATCTCTTCATCATGT	0.473000													4	87					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678903	130678903	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:130678903C>T	ENST00000338616.3	+	1	954	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CATGTTGAACCCCCTGATATA	0.398000													24	102					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168098372	168098372	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:168098372G>C	ENST00000409195.1	+	8	1217	c.1128G>C	c.(1126-1128)aaG>aaC	p.K376N	XIRP2_ENST00000420519.1_Missense_Mutation_p.K409N|XIRP2_ENST00000409273.1_Missense_Mutation_p.K154N|XIRP2_ENST00000409605.1_Missense_Mutation_p.K154N|XIRP2_ENST00000295237.9_Missense_Mutation_p.K376N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K376N|XIRP2_ENST00000409728.1_Missense_Mutation_p.K409N|XIRP2_ENST00000409756.2_Missense_Mutation_p.K376N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	201					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCCAGGAAAAGATCCTTTATT	0.368000													5	122					0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21896197	21896197	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chrX:21896197C>A	ENST00000379484.5	+	8	1107	c.1008C>A	c.(1006-1008)aaC>aaA	p.N336K		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	336	Cys-rich.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						AATGCTGTAACAATCACAGCC	0.328000													4	111					0.014758	0.0148453	1	1	0
ALPI	248	broad.mit.edu	37	2	233323654	233323654	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:233323654G>A	ENST00000295463.3	+	11	1462	c.1385G>A	c.(1384-1386)gGc>gAc	p.G462D		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	462					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTTGCGCGCGGCCCGCAGGCG	0.682000													3	10					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215691	20215691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr14:20215691C>A	ENST00000331723.1	+	1	105	c.105C>A	c.(103-105)taC>taA	p.Y35*		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTTTTTACATTGCTATTG	0.378000													21	263					4.26978e-12	4.83908e-12	1	1	0
FMN2	56776	broad.mit.edu	37	1	240371522	240371522	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr1:240371522G>A	ENST00000319653.9	+	5	3640	c.3410G>A	c.(3409-3411)gGa>gAa	p.G1137E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1137	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)			CCTCTTCCCGGAGCGGGCATA	0.711000													8	18					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52793984	52793984	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr14:52793984G>T	ENST00000245457.5	+	2	1043	c.889G>T	c.(889-891)Gac>Tac	p.D297Y	PTGER2_ENST00000557436.1_Missense_Mutation_p.D42Y	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	297						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GGAAAAATGGGACCTCCAAGC	0.393000													9	80					0.00621372	0.00636344	1	1	0
C15orf54	400360	broad.mit.edu	37	15	39544396	39544396	+	Silent	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468000													5	219					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35921619	35921619	+	Silent	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr17:35921619T>C	ENST00000339208.6	-	12	1694	c.1554A>G	c.(1552-1554)aaA>aaG	p.K518K	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Silent_p.K440K|SYNRG_ENST00000394378.2_Silent_p.K440K|SYNRG_ENST00000346661.4_Silent_p.K518K|SYNRG_ENST00000345615.4_Silent_p.K440K|SYNRG_ENST00000591288.1_Silent_p.K357K|SYNRG_ENST00000585472.1_Silent_p.K439K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	518	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGCAATTCCTTTAAACACAG	0.353000													20	37					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528449	17528449	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:17528449T>C	ENST00000511148.2	+	3	545	c.443T>C	c.(442-444)gTg>gCg	p.V148A		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	148						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGCGGCGTCGTGGCGTTAGCC	0.522000													11	31					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	58001046	58001046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr16:58001046C>A	ENST00000564448.1	-	2	205	c.145G>T	c.(145-147)Gag>Tag	p.E49*	CNGB1_ENST00000311183.4_Nonsense_Mutation_p.E49*|CNGB1_ENST00000251102.8_Nonsense_Mutation_p.E49*			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	49	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GACTCGGACTCTGTCTCGGCC	0.617000													17	22					2.35188e-11	2.63039e-11	1	1	0
TBC1D23	55773	broad.mit.edu	37	3	100002547	100002547	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr3:100002547G>A	ENST00000394144.4	+	4	375	c.368G>A	c.(367-369)aGc>aAc	p.S123N	TBC1D23_ENST00000475134.1_Intron|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.S123N	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	123	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						ATTAAATATAGCACATCCCTT	0.378000													17	43					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25467558	25467558	+	RNA	SNP	A	A	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr15:25467558A>G	ENST00000453082.2	+	0	753				SNORD115-28_ENST00000363931.1_RNA	NR_003343.1																						CATGCTCAATAGGATTACACT	0.507000													22	144					0	0	1	0	0
DAZAP1	26528	broad.mit.edu	37	19	1422377	1422377	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr19:1422377G>A	ENST00000336761.6	+	6	650	c.445G>A	c.(445-447)Gag>Aag	p.E149K	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Missense_Mutation_p.E149K	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	149	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATGACGCCGAGAAGCAGAG	0.612000													46	102					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72090776	72090776	+	Silent	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr14:72090776G>T	ENST00000555818.1	+	4	1989	c.1641G>T	c.(1639-1641)ctG>ctT	p.L547L	SIPA1L1_ENST00000358550.2_Silent_p.L547L|SIPA1L1_ENST00000381232.3_Silent_p.L547L|SIPA1L1_ENST00000537413.1_Silent_p.L22L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	547					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCATGACACTGAGAGGTTCGG	0.582000													28	211					4.39465e-27	5.15234e-27	1	1	0
FOLH1	2346	broad.mit.edu	37	11	49190810	49190810	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr11:49190810C>G	ENST00000340334.7	-	13	1632	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	FOLH1_ENST00000356696.3_Splice_Site_p.E437Q|FOLH1_ENST00000343844.4_Splice_Site_p.E129Q|FOLH1_ENST00000256999.2_Splice_Site_p.E437Q|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Splice_Site_p.E422Q	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	437	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTTGAATTCTCCTATAATAAA	0.348000													17	61					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117174351	117174351	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr7:117174351G>T	ENST00000003084.6	+	5	643	c.511G>T	c.(511-513)Gtt>Ttt	p.V171F	CFTR_ENST00000454343.1_Missense_Mutation_p.V171F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	171	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTCAAGCCGTGTTCTAGATAA	0.269000									Cystic Fibrosis				7	30					8.12818e-05	8.58255e-05	1	1	0
KARS	3735	broad.mit.edu	37	16	75675610	75675610	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr16:75675610C>G	ENST00000319410.5	-	3	279	c.158G>C	c.(157-159)aGa>aCa	p.R53T	KARS_ENST00000302445.3_Missense_Mutation_p.R25T|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	25					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTTCAGGCGTCTCTTCAGCTC	0.478000													27	51					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19498632	19498632	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr16:19498632G>T	ENST00000396229.2	+	17	3306	c.2557G>T	c.(2557-2559)Gcc>Tcc	p.A853S	TMC5_ENST00000219821.5_Missense_Mutation_p.A607S|TMC5_ENST00000542583.2_Missense_Mutation_p.A853S|TMC5_ENST00000541464.1_Missense_Mutation_p.A801S|TMC5_ENST00000564959.1_Missense_Mutation_p.A536S|TMC5_ENST00000561503.1_Missense_Mutation_p.A494S|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.A853S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	853						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTGCACCCTGGCCATCACCAT	0.502000													16	17					3.45872e-05	3.7214e-05	1	1	0
NBEA	26960	broad.mit.edu	37	13	35770201	35770201	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr13:35770201G>A	ENST00000540320.1	+	31	5662	c.5128G>A	c.(5128-5130)Gaa>Aaa	p.E1710K	NBEA_ENST00000310336.4_Missense_Mutation_p.E1710K|NBEA_ENST00000400445.3_Missense_Mutation_p.E1710K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1707K			Q8NFP9	NBEA_HUMAN	neurobeachin	1710						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.E1710K(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGTCATCCGAAGTGAAGAA	0.428000													4	50					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78667141	78667141	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr3:78667141T>C	ENST00000436010.2	-	25	4806	c.3809A>G	c.(3808-3810)cAt>cGt	p.H1270R	ROBO1_ENST00000467549.1_Missense_Mutation_p.H1209R|ROBO1_ENST00000495273.1_Missense_Mutation_p.H1264R|ROBO1_ENST00000464233.1_Missense_Mutation_p.H1309R			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1309					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCCATAGGTATGTGGAGGGGA	0.507000													8	36					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33842376	33842376	+	Silent	SNP	C	C	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr15:33842376C>T	ENST00000389232.4	+	10	901	c.831C>T	c.(829-831)aaC>aaT	p.N277N	RYR3_ENST00000415757.3_Silent_p.N277N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	277	MIR 4.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGGCAGTAACATCAGATGGG	0.468000													4	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611798	179611798	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr2:179611798delG	ENST00000360870.5	-	46	15551	c.15329delC	c.(15328-15330)ccafs	p.P5110fs	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1218	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTCCCCTGGGGGTGTGGA	0.488													33	92	---	---	---	---					
RYK	6259	broad.mit.edu	37	3	133877014	133877014	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr3:133877014delG	ENST00000427044.2	-	16	1850	c.1240delC	c.(1240-1242)ctgfs	p.L414fs	RYK_ENST00000296084.4_Frame_Shift_Del_p.L604fs			P34925	RYK_HUMAN	receptor-like tyrosine kinase	600	Protein kinase.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TAGGCCCCCAGGGCTGCATGA	0.547													2	4	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100269040	100269040	+	RNA	DEL	C	C	-			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr4:100269040delC	ENST00000515683.1	-	0	370				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCAGTGTTTTCCCACGcttgc	0.428													11	26	---	---	---	---					
THBS2	7058	broad.mit.edu	37	6	169641890	169641890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr6:169641890delG	ENST00000366787.3	-	6	1107	c.858delC	c.(856-858)ctcfs	p.L286fs		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	286					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCTGGTTCACGAGGACGTGGA	0.667													24	93	---	---	---	---					
AUTS2	26053	broad.mit.edu	37	7	70255577	70255579	+	In_Frame_Del	DEL	CCA	CCA	-	rs35604576		TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr7:70255577_70255579delCCA	ENST00000342771.4	+	19	3696_3698	c.3375_3377delCCA	c.(3373-3378)agccac>agc	p.H1133del	AUTS2_ENST00000406775.2_In_Frame_Del_p.H1109del	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1133	His-rich.									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)		ACGACTACAGccaccaccaccac	0.680													2	4	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48866910	48866910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr8:48866910delT	ENST00000314191.2	-	5	552	c.496delA	c.(496-498)atafs	p.I166fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	166					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTATCTGGTATTTTTTTTTTC	0.264								Non-homologous end-joining					3	3	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93247480	93247481	+	Frame_Shift_Ins	INS	-	-	A	rs57105282		TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr10:93247480_93247481insA	ENST00000446394.1	+	12	1248_1249	c.1148_1149insA	c.(1147-1152)gcaaaafs	p.AK383fs	HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.AK379fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.AK29fs|HECTD2_ENST00000498446.1_3'UTR	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCTGTAGCTGCAAAAAAAATCA	0.317													11	97	---	---	---	---					
RAB21	23011	broad.mit.edu	37	12	72175847	72175847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr12:72175847delC	ENST00000261263.3	+	5	684	c.428delC	c.(427-429)tccfs	p.S143fs		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	143					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						AGACATGTTTCCATTCAAGAA	0.323													13	107	---	---	---	---					
USP12	219333	broad.mit.edu	37	13	27643445	27643449	+	Frame_Shift_Del	DEL	ATGTA	ATGTA	-			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr13:27643445_27643449delATGTA	ENST00000282344.6	-	9	1340_1344	c.1084_1088delTACAT	c.(1084-1089)tacatcfs	p.YI362fs		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	362					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		ATAGAAAAGGATGTAACCAGACTCA	0.395													23	98	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49030484	49030485	+	Splice_Site	INS	-	-	G			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr13:49030484_49030485insG	ENST00000267163.4	+	19	2097_2098	c.1959_1960insG	c.(1960-1962)gtg>Ggtg	p.V654fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTATAAAAAAGGTTAGTAGAT	0.406		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			10	30	---	---	---	---					
IGHG2	3501	broad.mit.edu	37	14	106110518	106110519	+	RNA	INS	-	-	T			TCGA-XF-A9SX-01A-21D-A391-08	TCGA-XF-A9SX-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6d53eb-8aba-4960-ae10-3e72ae78898e	90feafb3-10d4-4082-a7d1-a4fe3554e710	g.chr14:106110518_106110519insT	ENST00000390545.2	-	0	295																											ACAGTTTGGCCTTTGGGGTCGG	0.594													17	62	---	---	---	---					
