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
DEPDC1B	55789	broad.mit.edu	37	5	59940657	59940657	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:59940657G>C	ENST00000265036.5	-	5	691	c.624C>G	c.(622-624)gaC>gaG	p.D208E	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.D181E|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.D208E	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	208	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CAAGTTTGACGTCTAAAACTT	0.299000													3	29					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99110205	99110205	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:99110205G>C	ENST00000394170.2	+	3	795	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E182Q|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E182Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	182					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCGTCTCCTGGAGGAAAATGG	0.582000													5	33					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27406523	27406523	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:27406523C>A	ENST00000326799.3	-	16	2020	c.1872G>T	c.(1870-1872)cgG>cgT	p.R624R	YME1L1_ENST00000376016.3_Silent_p.R567R|YME1L1_ENST00000375972.3_Silent_p.R534R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	624					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTGTTGGCCCCCGTGGCATGA	0.463000													22	41					6.21321e-17	7.37562e-17	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151821301	151821301	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:151821301G>T	ENST00000370306.2	+	9	1476	c.1456G>T	c.(1456-1458)Gtc>Ttc	p.V486F		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	486						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAACCGTGTCGAAGCCCA	0.552000													7	169					0.000157383	0.000164976	1	1	0
OR8D2	283160	broad.mit.edu	37	11	124189669	124189669	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:124189669G>T	ENST00000357438.2	-	1	515	c.425C>A	c.(424-426)tCc>tAc	p.S142Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CATCATTATGGAACAGACCCT	0.473000													23	31					2.89027e-11	3.25837e-11	1	1	0
CCL18	6362	broad.mit.edu	37	17	34398365	34398365	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:34398365C>A	ENST00000004921.3	+	3	297	c.234C>A	c.(232-234)gtC>gtA	p.V78V		NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	78					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGAAGTGGGTCCAGAAATACA	0.567000													10	54					9.70103e-10	1.08343e-09	1	1	0
TET3	200424	broad.mit.edu	37	2	74273794	74273794	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:74273794C>G	ENST00000409262.3	+	1	345	c.345C>G	c.(343-345)agC>agG	p.S115R		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	115							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCTGGCAGCGAAGACCTTG	0.627000													6	74					0	0	1	0	0
SNTA1	6640	broad.mit.edu	37	20	32005704	32005704	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:32005704C>G	ENST00000217381.2	-	3	793	c.522G>C	c.(520-522)ccG>ccC	p.P174P		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	174	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TCTTGAAATACGGTGAGACGT	0.547000													7	70					0	0	1	0	0
CYHR1	50626	broad.mit.edu	37	8	145689747	145689747	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:145689747C>G	ENST00000403000.2	-	2	929	c.342G>C	c.(340-342)gtG>gtC	p.V114V	CYHR1_ENST00000438911.2_Intron|CYHR1_ENST00000424149.2_Silent_p.V114V|CYHR1_ENST00000306145.5_Silent_p.V114V|CTD-2517M22.16_ENST00000525461.1_RNA	NM_032687.3	NP_116076.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	0						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTGACCAGCCACAGAGCGGC	0.642000													115	84					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136467716	136467716	+	Missense_Mutation	SNP	C	C	A	rs145608320		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:136467716C>A	ENST00000264160.4	+	22	2916	c.2546C>A	c.(2545-2547)cCg>cAg	p.P849Q	R3HDM1_ENST00000409478.1_Missense_Mutation_p.P721Q|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P720Q|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P794Q|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P850Q	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	849							nucleic acid binding	p.P849L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CACTCACCCCCGCAGTGGAAA	0.468000											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	45					2.09667e-21	2.56537e-21	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62751977	62751977	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:62751977C>A	ENST00000331425.6	-	0	1458					NR_003952.1																						TGGTCACATTCTTCACATTTG	0.388000													5	44					2.17888e-05	2.30421e-05	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298905	125298905	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:125298905G>C	ENST00000538699.1	-	2	1083	c.1003C>G	c.(1003-1005)Cgc>Ggc	p.R335G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R335G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335C(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGCGCTGGCGCGGATCCAGG	0.627000													7	121					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074069	32074069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:32074069C>T	ENST00000438447.1	+	18	3245	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R953*			O15018	PDZD2_HUMAN	PDZ domain containing 2	953					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACAGGCCCTCCGAAACCCTCT	0.592000													10	96					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022999	76022999	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:76022999G>A	ENST00000393004.2	-	5	2770	c.2549C>T	c.(2548-2550)tCt>tTt	p.S850F	FILIP1_ENST00000370020.1_Missense_Mutation_p.S751F|FILIP1_ENST00000237172.7_Missense_Mutation_p.S850F|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	850										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGAACAGAAGATCTTTCCAC	0.448000													64	107					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979418	58979418	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:58979418G>C	ENST00000361050.3	-	1	1006	c.921C>G	c.(919-921)ggC>ggG	p.G307G		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	307	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCAGCGGCAGGCCAGAGCGGT	0.582000													8	35					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234217	8234217	+	Missense_Mutation	SNP	G	G	C	rs4840954		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:8234217G>C	ENST00000520004.1	-	3	1966	c.1702C>G	c.(1702-1704)Ctg>Gtg	p.L568V	SGK223_ENST00000330777.4_Missense_Mutation_p.L568V			Q86YV5	SG223_HUMAN		568							ATP binding|non-membrane spanning protein tyrosine kinase activity										AGGTCAGCCAGCGGTGACACT	0.662000													19	87					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2110192	2110192	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:2110192G>C	ENST00000355272.6	-	28	3413	c.3207C>G	c.(3205-3207)acC>acG	p.T1069T	AP3D1_ENST00000345016.5_Silent_p.T1007T|AP3D1_ENST00000356926.4_Silent_p.T966T|AP3D1_ENST00000350812.6_Silent_p.T838T	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1007					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TGCTCTGGATGGTGAACACAT	0.637000													5	63					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109018036	109018036	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:109018036G>C	ENST00000388962.3	-	2	207	c.48C>G	c.(46-48)aaC>aaG	p.N16K	SELPLG_ENST00000228463.6_Missense_Mutation_p.N32K|SELPLG_ENST00000550948.1_Missense_Mutation_p.N16K	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	16					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCAAGCTGTTGCCAGGGC	0.592000													13	34					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119077437	119077437	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:119077437C>A	ENST00000371410.3	-	1	298	c.132G>T	c.(130-132)tcG>tcT	p.S44S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	44	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AGCAAGAGTGCGAGCGAGAGC	0.677000													14	24					6.72482e-11	7.56939e-11	1	1	0
ALOX15B	247	broad.mit.edu	37	17	7951880	7951880	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:7951880C>G	ENST00000380183.4	+	14	2167	c.2028C>G	c.(2026-2028)atC>atG	p.I676M	ALOX15B_ENST00000572022.1_Missense_Mutation_p.I664M|ALOX15B_ENST00000380173.2_Missense_Mutation_p.I647M|ALOX15B_ENST00000573359.1_Missense_Mutation_p.I602M	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	676	Lipoxygenase.		I -> V (in dbSNP:rs7225107).		induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCGTCTCCATCTAAATCCCAG	0.577000													4	57					0	0	1	0	0
SFTPC	6440	broad.mit.edu	37	8	22020624	22020624	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:22020624C>G	ENST00000521315.1	+	3	265	c.233C>G	c.(232-234)gCc>gGc	p.A78G	SFTPC_ENST00000437090.2_Missense_Mutation_p.A78G|SFTPC_ENST00000524255.1_Missense_Mutation_p.A25G|SFTPC_ENST00000318561.3_Missense_Mutation_p.A78G|SFTPC_ENST00000522109.1_Missense_Mutation_p.A78G|SFTPC_ENST00000520605.1_Missense_Mutation_p.A25G			P11686	PSPC_HUMAN	surfactant protein C	78					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCGCCGGAAGCCCAGCAACGC	0.607000													11	140					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38648258	38648258	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:38648258G>T	ENST00000413689.1	-	9	1235	c.1042C>A	c.(1042-1044)Ccc>Acc	p.P348T	SCN5A_ENST00000455624.2_Missense_Mutation_p.P348T|SCN5A_ENST00000451551.2_Missense_Mutation_p.P348T|SCN5A_ENST00000333535.4_Missense_Mutation_p.P348T|SCN5A_ENST00000425664.1_Missense_Mutation_p.P348T|SCN5A_ENST00000450102.2_Missense_Mutation_p.P348T|SCN5A_ENST00000443581.1_Missense_Mutation_p.P348T|SCN5A_ENST00000449557.2_Missense_Mutation_p.P348T|SCN5A_ENST00000423572.2_Missense_Mutation_p.P348T|SCN5A_ENST00000414099.2_Missense_Mutation_p.P348T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	348					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCGTGGTCGGGGTTCTCGCCT	0.602000													31	56					1.68575e-08	1.86238e-08	1	1	0
ZNF572	137209	broad.mit.edu	37	8	125989424	125989424	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:125989424G>C	ENST00000319286.5	+	3	1068	c.914G>C	c.(913-915)tGt>tCt	p.C305S		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGTCTTGAGTGTGAAAAAAGC	0.408000										HNSCC(60;0.17)			6	100					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900705	51900705	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:51900705C>T	ENST00000268919.4	+	1	467	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	104					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCGCCCTCTTCGGCCATCAGG	0.612000													4	175					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389538	38389538	+	RNA	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:38389538T>A	ENST00000390344.2	-	0	85																											CAGAAGACAGTAGGAGGAGCT	0.557000													3	6					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48646858	48646858	+	Splice_Site	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:48646858T>C	ENST00000263274.7	-	11	1277		c.e11-2		LIG1_ENST00000427526.2_Splice_Site|LIG1_ENST00000536218.1_Splice_Site	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TAAGGAACCCTAGGGAAGGAA	0.602000								Nucleotide excision repair (NER)					38	61					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184023942	184023942	+	Splice_Site	SNP	A	A	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:184023942A>C	ENST00000310118.4	+	14	2361	c.1804_splice	c.e14+1	p.A601_splice	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site_p.A471_splice|PSMD2_ENST00000435761.1_Splice_Site_p.A442_splice	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	601					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GTGCATATGCAGGTCTGTGTC	0.498000											OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	50					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651592	152651592	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:152651592G>T	ENST00000367255.5	-	78	14829	c.14228C>A	c.(14227-14229)aCa>aAa	p.T4743K	SYNE1_ENST00000265368.4_Missense_Mutation_p.T4743K|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4672K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T4672K|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4490K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4743					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCTGACCTGTGCTGCGAAA	0.517000										HNSCC(10;0.0054)			37	39					4.92203e-23	6.06373e-23	1	1	0
SCRG1	11341	broad.mit.edu	37	4	174312580	174312580	+	Splice_Site	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:174312580C>G	ENST00000296506.2	-	2	469		c.e2-1			NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1						nervous system development	extracellular space				large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GCTTTTGGCCCTGAAATAGAA	0.383000													20	82					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42428423	42428423	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:42428423C>G	ENST00000053867.3	+	8	789	c.727C>G	c.(727-729)Cac>Gac	p.H243D	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	243					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGCTCCGATCACCTGCACTG	0.607000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	79					0	0	1	0	0
ABCA17P	650655	broad.mit.edu	37	16	2436135	2436135	+	RNA	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:2436135G>C	ENST00000469908.1	+	0	1390					NR_003574.1																						GAAGTGCCCTGAAGTCAAGCA	0.622000													4	93					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23603645	23603645	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:23603645A>G	ENST00000305877.8	+	4	2421	c.1670A>G	c.(1669-1671)cAc>cGc	p.H557R	BCR_ENST00000359540.3_Missense_Mutation_p.H557R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	557	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TACGAGATCCACAAGGAGTTC	0.592000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								49	71					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51559848	51559848	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:51559848T>C	ENST00000595793.1	-	5	872	c.830A>G	c.(829-831)cAa>cGa	p.Q277R	KLK13_ENST00000335422.3_Missense_Mutation_p.Q125R|KLK13_ENST00000595547.1_Missense_Mutation_p.Q204R	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	277					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CAACTTTTATTGTGGGCCCTT	0.483000													5	193					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72511362	72511362	+	Silent	SNP	G	G	C	rs115166776	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:72511362G>C	ENST00000373208.1	+	17	2565	c.2565G>C	c.(2563-2565)gcG>gcC	p.A855A	ADAMTS14_ENST00000373207.1_Silent_p.A852A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	852	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGAGTGGGCGCTCAAGAGCT	0.617000													12	56					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847178	83847178	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:83847178G>C	ENST00000349129.2	+	21	3677	c.3417G>C	c.(3415-3417)atG>atC	p.M1139I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.M1130I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.M1120I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1139					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATTCTCAAATGCCCAAGGAAA	0.453000													20	44					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979086	58979086	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:58979086G>A	ENST00000361050.3	-	1	1338	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	418						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CAGGTGCACCGGGGAGTAGCC	0.537000													11	55					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026938	65026938	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:65026938G>C	ENST00000262138.3	+	4	804	c.802G>C	c.(802-804)Gcc>Ccc	p.A268P		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	268					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GATCACAGGGGCCATCCCCAT	0.672000													8	57					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119172	18119172	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:18119172C>T	ENST00000222250.4	+	1	196	c.53C>T	c.(52-54)gCg>gTg	p.A18V	ARRDC2_ENST00000379656.2_Intron|ARRDC2_ENST00000595712.1_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	18										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GGCGCGACCGCGGGCGTCGAG	0.706000													12	27					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33990092	33990092	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:33990092G>A	ENST00000389232.4	+	40	6214	c.6144G>A	c.(6142-6144)atG>atA	p.M2048I	RYR3_ENST00000415757.3_Missense_Mutation_p.M2048I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2048	4 X approximate repeats.				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)		GAGACATAATGAACAACAAGG	0.458000													41	50					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629760	32629760	+	Silent	SNP	G	G	T	rs9273922		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:32629760G>T	ENST00000399084.1	-	4	823	c.645C>A	c.(643-645)ccC>ccA	p.P215P	HLA-DQB1_ENST00000434651.2_Silent_p.P215P|HLA-DQB1_ENST00000399079.3_Silent_p.P215P|HLA-DQB1_ENST00000374943.4_Silent_p.P215P|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399082.3_Silent_p.P125P			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	215	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCACGGTGATGGGGCTCTGGA	0.542000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				19	43					7.26314e-15	8.46776e-15	1	1	0
RAB11FIP4	84440	broad.mit.edu	37	17	29851008	29851008	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:29851008T>G	ENST00000325874.8	+	9	1356	c.1127T>G	c.(1126-1128)gTg>gGg	p.V376G	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.V274G	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	376	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				ACACAGCTGGTGCACAGGTCA	0.587000													5	11					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3046419	3046419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:3046419G>T	ENST00000520002.1	-	36	6071	c.5516C>A	c.(5515-5517)tCg>tAg	p.S1839*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S1838*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S1838*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.S1838*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1839	CUB 11.					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)		CTGAATTCCCGAGCCCTCCGT	0.468000													4	16					0.00024832	0.000259164	1	1	0
NCAN	1463	broad.mit.edu	37	19	19345864	19345864	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:19345864G>T	ENST00000252575.5	+	10	3252	c.3209G>T	c.(3208-3210)tGc>tTc	p.C1070F	NCAN_ENST00000538881.1_Missense_Mutation_p.C521F	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1070	EGF-like 2; calcium-binding (Potential).				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCTTTGTCTGCCTTTGCCTC	0.527000													27	57					8.58068e-18	1.02539e-17	1	1	0
AIFM1	9131	broad.mit.edu	37	X	129272623	129272623	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:129272623C>G	ENST00000287295.3	-	9	1142	c.912G>C	c.(910-912)acG>acC	p.T304T	AIFM1_ENST00000319908.3_Silent_p.T300T|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Silent_p.T217T	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	304	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CACCGATAATCGTAATTGATT	0.433000													20	94					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39089556	39089556	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:39089556T>C	ENST00000379907.4	+	15	1663	c.1536T>C	c.(1534-1536)aaT>aaC	p.N512N	ADAM32_ENST00000519315.1_Silent_p.N406N|ADAM32_ENST00000437682.2_Silent_p.N413N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	512					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTTCAAGAAATGCTCCATTTG	0.338000													37	72					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42560751	42560751	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:42560751C>T	ENST00000433647.1	+	4	722	c.98C>T	c.(97-99)cCa>cTa	p.P33L	VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.P27L|VIPR1_ENST00000473575.1_3'UTR|VIPR1_ENST00000325123.4_Missense_Mutation_p.P74L|VIPR1_ENST00000438259.2_5'UTR|VIPR1-AS1_ENST00000598837.1_RNA	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	74					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCTGCTGGCCAGCCACCCCT	0.592000													12	13					0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159889093	159889093	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:159889093G>C	ENST00000368097.4	-	4	739	c.429C>G	c.(427-429)ctC>ctG	p.L143L	TAGLN2_ENST00000320307.4_Silent_p.L143L|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Silent_p.L164L	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	143					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCAGAGAAGAGCCCATCAT	0.552000													9	102					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48683174	48683174	+	Splice_Site	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:48683174C>G	ENST00000544264.1	-	24	7886		c.e24+1		CELSR3_ENST00000164024.4_Splice_Site			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGCCCCACCTCACGGGGA	0.622000													5	36					0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38302272	38302272	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:38302272A>C	ENST00000260630.3	-	2	661	c.260T>G	c.(259-261)aTc>aGc	p.I87S	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.I87S	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	87					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GCCCAGGCGGATCTGGAAAAC	0.711000													4	5					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322862	55322862	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55322862G>C	ENST00000314644.2	+	1	1080	c.1080G>C	c.(1078-1080)gtG>gtC	p.V360V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTGATGGTGGTTTCTGATG	0.303000										HNSCC(20;0.049)			4	50					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073851	134073851	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:134073851C>G	ENST00000264360.4	+	1	3382	c.2556C>G	c.(2554-2556)ccC>ccG	p.P852P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	852					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCACAACCCCTGCGGGGCCA	0.572000													4	64					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83296034	83296034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:83296034G>A	ENST00000563800.1	-	2	1906	c.181C>T	c.(181-183)Cga>Tga	p.R61*	CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.R34*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.R34*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	34					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTATCCTTCGAAAGATATTG	0.413000													37	38					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919236	135919236	+	Silent	SNP	G	G	A	rs138342612	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:135919236G>A	ENST00000372097.5	+	3	818	c.495G>A	c.(493-495)ccG>ccA	p.P165P	GTF3C5_ENST00000342018.8_Silent_p.P165P|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372099.6_Silent_p.P156P|GTF3C5_ENST00000372108.5_Silent_p.P165P|GTF3C5_ENST00000372095.5_Silent_p.P40P	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	165						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGGAGCTGCCGCTCTACATCC	0.622000													38	64					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187747	123187747	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:123187747C>G	ENST00000328880.5	-	1	143	c.84G>C	c.(82-84)aaG>aaC	p.K28N	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	28					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GCGGCAACACCTTGACAATGA	0.507000													13	54					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330655	125330655	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:125330655G>C	ENST00000304865.2	-	1	183	c.102C>G	c.(100-102)atC>atG	p.I34M		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGTACACGATGAGGAAGA	0.498000													34	39					0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163483325	163483325	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:163483325C>A	ENST00000337019.3	+	4	659	c.435C>A	c.(433-435)gtC>gtA	p.V145V	PACRG_ENST00000366888.2_Silent_p.V145V|PACRG_ENST00000366889.2_Silent_p.V145V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	145										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCCTACCTGTCCTTCCACAGC	0.418000													10	21					2.17888e-05	2.30421e-05	1	1	0
RPAIN	84268	broad.mit.edu	37	17	5329382	5329382	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:5329382C>T	ENST00000381209.3	+	4	975	c.405C>T	c.(403-405)ctC>ctT	p.L135L	RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000405578.4_Silent_p.L135L|RPAIN_ENST00000381208.5_Silent_p.L135L|RPAIN_ENST00000327154.6_Silent_p.L135L|CTC-524C5.2_ENST00000575890.1_RNA	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	135					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAAACCCACTCATCTGTCCTG	0.468000													8	13					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2987336	2987336	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:2987336G>C	ENST00000396946.4	-	3	496	c.93C>G	c.(91-93)caC>caG	p.H31Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	31	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGAGCATGTGCCGGTTAC	0.512000			Mis		DLBCL								24	150					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20307969	20307969	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:20307969G>A	ENST00000335117.8	+	4	507	c.450G>A	c.(448-450)caG>caA	p.Q150Q	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAACTACCCAGAGCAAAATAT	0.303000													36	74					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65129394	65129394	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:65129394G>C	ENST00000371073.2	+	14	1968	c.1968G>C	c.(1966-1968)atG>atC	p.M656I	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.M605I			Q5VU97	CAHD1_HUMAN	cache domain containing 1	656					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCACCATCATGCTGTCTGCTG	0.537000													44	272					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52265330	52265330	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:52265330C>G	ENST00000321600.1	+	3	633	c.587C>G	c.(586-588)aCc>aGc	p.T196S	DYNAP_ENST00000585973.1_Missense_Mutation_p.T144S	NM_173629.1	NP_775900.1			dynactin associated protein																		ACAGCTGCCACCACTTCCACA	0.453000													8	73					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408484	2408484	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:2408484C>T	ENST00000381223.4	-	2	480	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A93T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A93T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	93						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGAGAAGGCGGTGGCGAAG	0.632000													19	84					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290916	20290916	+	Splice_Site	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:20290916G>T	ENST00000377252.3	+	2	1165		c.e2+1		PLXDC2_ENST00000377242.3_Splice_Site	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCAGATCGAGGTAGATAAATA	0.433000													3	11					0.115264	0.116237	1	1	0
GFPT2	9945	broad.mit.edu	37	5	179762901	179762901	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:179762901G>C	ENST00000253778.8	-	4	436	c.267C>G	c.(265-267)gcC>gcG	p.A89A		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	89	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGCGCGTGTGGGCAATGCCGA	0.542000													16	82					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95262646	95262646	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:95262646G>C	ENST00000297596.2	-	5	1047	c.783C>G	c.(781-783)agC>agG	p.S261R	GEM_ENST00000396194.2_Missense_Mutation_p.S261R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	261					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTGGGCATGCTCTCCTTCC	0.552000													7	72					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249472	123249472	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:123249472G>C	ENST00000264501.4	+	66	11582	c.11209G>C	c.(11209-11211)Gac>Cac	p.D3737H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3737H			Q2LD37	K1109_HUMAN	KIAA1109	3737					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAGATGAAGACCATGAGAG	0.398000													9	65					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777032	18777032	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:18777032C>G	ENST00000380548.4	+	19	3144	c.2805C>G	c.(2803-2805)caC>caG	p.H935Q		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	935	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCAAGATCCACCGCCTCAAGC	0.647000													17	74					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583899	35583899	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:35583899C>T	ENST00000287272.2	+	9	1346	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	UNC5D_ENST00000449677.1_Silent_p.P87P|UNC5D_ENST00000453357.2_Silent_p.P506P|UNC5D_ENST00000404895.2_Silent_p.P511P|UNC5D_ENST00000420357.1_Silent_p.P444P|UNC5D_ENST00000416672.1_Silent_p.P516P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	511					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGACTTTTCCCCATGGAAACA	0.468000													16	90					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62177184	62177184	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:62177184A>G	ENST00000474889.1	+	9	1452	c.1075A>G	c.(1075-1077)Aac>Gac	p.N359D	PTPRG_ENST00000295874.10_Missense_Mutation_p.N359D	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	359	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCAGCCTCTGAACCAGACGGC	0.537000													6	28					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73029293	73029293	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:73029293C>G	ENST00000268057.4	+	15	1480	c.1439C>G	c.(1438-1440)aCg>aGg	p.T480R	BBS4_ENST00000539603.1_Missense_Mutation_p.T468R|BBS4_ENST00000542334.1_Missense_Mutation_p.T308R|BBS4_ENST00000395205.2_Missense_Mutation_p.T488R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	480	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GCATACAGGACGCTCCCCTCA	0.522000									Bardet-Biedl syndrome				17	165					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239533	81239533	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:81239533G>T	ENST00000552864.1	-	4	661	c.459C>A	c.(457-459)gaC>gaA	p.D153E		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	153	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ATAGCAGCTGGTCTCCTCTTT	0.428000													13	36					1.52009e-12	1.73276e-12	1	1	0
DMD	1756	broad.mit.edu	37	X	33146274	33146274	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:33146274C>T	ENST00000378677.2	-	1	203	c.9G>A	c.(7-9)gaG>gaA	p.E3E	DMD_ENST00000357033.4_Intron|DMD_ENST00000288447.4_Intron	NM_004009.3|NM_004010.3|NM_004011.3|NM_004012.3|NM_004014.2	NP_004000.1|NP_004001.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	0	Actin-binding.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGATGAGACCTCAGACATTT	0.428000													5	8					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110815867	110815867	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:110815867G>C	ENST00000375820.4	-	47	4313	c.4192C>G	c.(4192-4194)Cct>Gct	p.P1398A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1398	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCAAACCCAGGAATACCTGGA	0.498000													3	28					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350375	134350375	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:134350375C>A	ENST00000275230.5	-	2	743	c.588G>T	c.(586-588)tgG>tgT	p.W196C		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	196						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ACATGTACTTCCAGCCATGGA	0.428000													42	63					1.22674e-20	1.49081e-20	1	1	0
FREM2	341640	broad.mit.edu	37	13	39451318	39451318	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:39451318G>C	ENST00000280481.7	+	21	8825	c.8609G>C	c.(8608-8610)aGt>aCt	p.S2870T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2870					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTAAGAAGAGTCTCTGGTTG	0.433000													5	239					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153134304	153134304	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:153134304A>T	ENST00000370060.1	-	12	1560	c.1371T>A	c.(1369-1371)agT>agA	p.S457R	L1CAM_ENST00000543994.1_Missense_Mutation_p.S459R|L1CAM_ENST00000538883.1_Missense_Mutation_p.S459R|L1CAM_ENST00000370055.1_Missense_Mutation_p.S452R|L1CAM_ENST00000370057.3_Missense_Mutation_p.S457R|L1CAM_ENST00000361699.4_Missense_Mutation_p.S457R|L1CAM_ENST00000361981.3_Missense_Mutation_p.S452R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	457	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTGAACACTGGGCACAG	0.627000													74	109					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99661260	99661260	+	Splice_Site	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:99661260C>T	ENST00000370597.3	-	8	1488	c.1133_splice	c.e8+1	p.R378_splice	CRTAC1_ENST00000370591.2_Splice_Site_p.R378_splice|CRTAC1_ENST00000298819.4_Splice_Site_p.R378_splice	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	378						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GAGCATCTACCGGAAGAGGCG	0.567000													7	26					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3023793	3023793	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:3023793G>C	ENST00000397114.3	-	21	2352	c.1976C>G	c.(1975-1977)gCc>gGc	p.A659G	CARS_ENST00000401769.3_Missense_Mutation_p.A682G|CARS_ENST00000278224.9_Missense_Mutation_p.A669G|CARS_ENST00000397111.5_Missense_Mutation_p.A669G|CARS_ENST00000470221.2_Intron|CARS_ENST00000380525.4_Missense_Mutation_p.A752G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	669					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TTTCCTCCGGGCCGCCTCCTC	0.572000			T	ALK	ALCL								15	250					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10445934	10445934	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10445934C>A	ENST00000589261.1	-	4	1046	c.514G>T	c.(514-516)Gcc>Tcc	p.A172S	ICAM3_ENST00000160262.5_Missense_Mutation_p.A249S			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	249	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCCTCTGAGGCTGGAAAAAGC	0.672000													45	93					3.54909e-21	4.33509e-21	1	1	0
SNPH	9751	broad.mit.edu	37	20	1276928	1276928	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:1276928G>T	ENST00000381867.1	+	4	687	c.45G>T	c.(43-45)ccG>ccT	p.P15P	RAD21L1_ENST00000381882.2_Intron|RAD21L1_ENST00000402452.1_Intron|SNPH_ENST00000381873.3_Intron			O15079	SNPH_HUMAN	syntaphilin	0					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGCCTGGCCCGGCCCTTTCTG	0.701000													6	7					0.0215528	0.0218886	1	1	0
BTBD7	55727	broad.mit.edu	37	14	93723574	93723574	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:93723574G>C	ENST00000334746.5	-	6	1882	c.1575C>G	c.(1573-1575)atC>atG	p.I525M	BTBD7_ENST00000554565.1_Missense_Mutation_p.I174M|BTBD7_ENST00000393170.2_Missense_Mutation_p.I99M	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	525										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TTATAGGTAAGATGTGTTCAA	0.368000													17	59					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24844670	24844670	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:24844670T>A	ENST00000379068.3	+	32	3731	c.3688T>A	c.(3688-3690)Tgt>Agt	p.C1230S	POLA1_ENST00000379059.3_Missense_Mutation_p.C1224S			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1224					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGCTCGGATCTGTGAACCAAT	0.522000													8	12					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33596355	33596355	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:33596355G>A	ENST00000321505.4	+	9	3627	c.3447G>A	c.(3445-3447)ctG>ctA	p.L1149L	KIAA1549L_ENST00000389726.3_Silent_p.L1155L|KIAA1549L_ENST00000265654.5_Silent_p.L1155L					KIAA1549-like																		CCAAGATCCTGAGCACCATTG	0.517000													14	97					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28702084	28702084	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:28702084C>A	ENST00000545336.1	+	16	1723	c.1304C>A	c.(1303-1305)aCg>aAg	p.T435K	CCDC91_ENST00000539107.1_Missense_Mutation_p.T399K|CCDC91_ENST00000381256.1_Missense_Mutation_p.T399K|CCDC91_ENST00000381259.1_Missense_Mutation_p.T435K|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.T405K			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	435					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTAATAGCTACGGAACCAGTT	0.378000													38	76					5.71845e-15	6.67773e-15	1	1	0
RNF19A	25897	broad.mit.edu	37	8	101299997	101299997	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:101299997G>C	ENST00000519449.1	-	3	722	c.406C>G	c.(406-408)Ctt>Gtt	p.L136V	RNF19A_ENST00000341084.2_Missense_Mutation_p.L136V	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	136					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGCCGCAAAAGGCACAAAGGG	0.368000													29	129					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353124	17353124	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:17353124C>T	ENST00000261381.6	-	3	718	c.634G>A	c.(634-636)Ggc>Agc	p.G212S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	212					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACCGGGGCCTTTCCCAGGG	0.587000													32	155					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49765462	49765462	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:49765462G>C	ENST00000492622.2	+	19	2473	c.2168G>C	c.(2167-2169)aGc>aCc	p.S723T	FNDC3A_ENST00000398316.3_Missense_Mutation_p.S667T|FNDC3A_ENST00000541916.1_Missense_Mutation_p.S723T	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	723	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGTACAGTGAGCAGCCTTCTT	0.418000													4	89					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53899503	53899503	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:53899503C>G	ENST00000266987.2	+	8	1295	c.812C>G	c.(811-813)tCa>tGa	p.S271*	TARBP2_ENST00000552857.1_Missense_Mutation_p.F137L|TARBP2_ENST00000456234.2_Nonsense_Mutation_p.S250*|TARBP2_ENST00000394357.2_Nonsense_Mutation_p.S250*	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	271	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CTACGAAATTCAGTAGGAGAG	0.602000													6	154					0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163701	84163701	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:84163701G>C	ENST00000219439.4	-	4	732	c.556C>G	c.(556-558)Cat>Gat	p.H186D	HSDL1_ENST00000434463.3_Missense_Mutation_p.H131D	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	186						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						AACACAACATGGACCATCAAA	0.512000													7	117					0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1289842	1289842	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:1289842C>G	ENST00000309212.6	-	6	1027	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	MXRA8_ENST00000342753.4_Missense_Mutation_p.E232Q|MXRA8_ENST00000445648.2_Missense_Mutation_p.E333Q	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	333						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTCGGCTCTCGGGGACGATG	0.682000													11	60					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9846526	9846526	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:9846526C>A	ENST00000396115.1	-	7	773	c.463G>T	c.(463-465)Ggc>Tgc	p.G155C	GAS7_ENST00000542249.1_Missense_Mutation_p.G160C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000437099.2_Missense_Mutation_p.G151C|GAS7_ENST00000579158.1_Missense_Mutation_p.G167C|GAS7_ENST00000432992.2_Missense_Mutation_p.G215C|GAS7_ENST00000585266.1_Missense_Mutation_p.G151C|GAS7_ENST00000580865.1_Missense_Mutation_p.G75C|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.G151C	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	215					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.G215S(1)|p.G75S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCCACGGTGCCGTTGCCTTGG	0.527000			T	MLL	AML*								56	89					3.21867e-24	3.9721e-24	1	1	0
PHACTR3	116154	broad.mit.edu	37	20	58342406	58342406	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:58342406C>G	ENST00000371015.1	+	5	1174	c.707C>G	c.(706-708)aCt>aGt	p.T236S	PHACTR3_ENST00000359926.3_Missense_Mutation_p.T233S|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T195S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T195S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T195S|PHACTR3_ENST00000361300.4_Intron	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	236	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGCTGCCCACTCCGCCACCC	0.592000													14	40					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805441	106805441	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:106805441C>A	ENST00000438142.2	-	0	193																											AGAGACAGTACAGGTGAGGGA	0.592000													11	106					1.61879e-10	1.81355e-10	1	1	0
VPS11	55823	broad.mit.edu	37	11	118939912	118939912	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:118939912G>C	ENST00000300793.6	+	2	235	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	65					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGCACATATGGAAGGCCAGAT	0.433000													13	141					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904934	12904934	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:12904934C>G	ENST00000380659.3	+	3	1446	c.1307C>G	c.(1306-1308)tCa>tGa	p.S436*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	436					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATATCACCTTCAGGAGATTCA	0.343000													50	70					0	0	1	0	0
SMS	6611	broad.mit.edu	37	X	21985363	21985363	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:21985363G>T	ENST00000404933.2	+	2	351	c.99G>T	c.(97-99)caG>caT	p.Q33H	SMS_ENST00000379404.1_Missense_Mutation_p.Q33H|SMS_ENST00000415881.2_5'UTR|SMS_ENST00000478094.1_3'UTR	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	33					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TCCAGGAGCAGGGGATGGCGG	0.512000													23	43					5.45024e-15	6.37491e-15	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906109	144906109	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:144906109C>A	ENST00000370490.1	+	1	6421	c.2166C>A	c.(2164-2166)aaC>aaA	p.N722K	SLITRK2_ENST00000434188.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N722K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	722						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCTATAGCAACCTGGAGGAGA	0.517000													51	120					8.00217e-19	9.62677e-19	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37182548	37182548	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:37182548C>G	ENST00000262879.6	+	22	3485	c.3201C>G	c.(3199-3201)gcC>gcG	p.A1067A	RALGAPB_ENST00000397042.3_Silent_p.A1063A|RALGAPB_ENST00000397040.1_Silent_p.A1067A|RALGAPB_ENST00000397038.1_Silent_p.A845A			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1067					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGCATGGCCCAGCAGATTG	0.403000													12	42					0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33053026	33053026	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:33053026A>G	ENST00000311388.3	+	5	1234	c.858A>G	c.(856-858)acA>acG	p.T286T	DEPDC7_ENST00000241051.3_Silent_p.T295T	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	295					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CAGACCGAACAGACTTAGTGA	0.423000													29	40					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797436	57797436	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:57797436C>G	ENST00000309042.7	+	4	2726	c.2412C>G	c.(2410-2412)ccC>ccG	p.P804P		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	804	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAGAGCCTCCCCTTCACATGG	0.527000													44	180					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465632	10465632	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:10465632C>G	ENST00000382483.3	-	4	6199	c.5976G>C	c.(5974-5976)gaG>gaC	p.E1992D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1992					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGCTGGGCCTCCCCTTCTG	0.592000													32	541					0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	96936	96936	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:96936C>G	ENST00000323434.8	-	6	1089	c.492G>C	c.(490-492)gaG>gaC	p.E164D	RPH3AL_ENST00000536489.2_Missense_Mutation_p.E164D|RPH3AL_ENST00000331302.7_Missense_Mutation_p.E193D|RPH3AL_ENST00000576001.1_5'UTR	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	193					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGCGGCTGGTCTCAGAGCTTC	0.607000													13	84					0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21099981	21099981	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:21099981C>A	ENST00000375003.2	-	1	1517	c.17G>T	c.(16-18)cGt>cTt	p.R6L	HP1BP3_ENST00000312239.5_Missense_Mutation_p.R158L			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	158					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CATCTTGGGACGTGGGGAAGA	0.403000													28	45					5.09552e-08	5.58637e-08	1	1	0
HERC5	51191	broad.mit.edu	37	4	89400632	89400632	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:89400632C>G	ENST00000264350.3	+	13	1864	c.1711C>G	c.(1711-1713)Cta>Gta	p.L571V	HERC5_ENST00000508159.1_Missense_Mutation_p.L209V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	571					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TCAAGCTCTCCTAGAAATGTT	0.418000													15	57					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751546	140751546	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140751546G>C	ENST00000576222.1	+	1	1716	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGCCTTCGAGCTCACTCT	0.692000													11	58					0	0	1	0	0
SPG21	51324	broad.mit.edu	37	15	65262485	65262485	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:65262485C>T	ENST00000559199.1	-	4	1066	c.66G>A	c.(64-66)atG>atA	p.M22I	SPG21_ENST00000204566.2_Missense_Mutation_p.M176I|SPG21_ENST00000433215.2_Missense_Mutation_p.M176I|SPG21_ENST00000416889.2_Missense_Mutation_p.M149I			Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	176					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CATCAGCCATCATAGGGTCCA	0.408000													116	224					0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49061949	49061949	+	Missense_Mutation	SNP	C	C	G	rs5848860		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:49061949C>G	ENST00000326739.4	-	13	1541	c.1502G>C	c.(1501-1503)gGt>gCt	p.G501A		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	501					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	ATGGACGCCACCTTCCACCTG	0.567000													14	82					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48524145	48524145	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:48524145G>C	ENST00000340802.6	+	5	522		c.e5-1		PFKM_ENST00000551804.1_Splice_Site|PFKM_ENST00000551548.1_Splice_Site|PFKM_ENST00000312352.7_Splice_Site|PFKM_ENST00000547587.1_Splice_Site|PFKM_ENST00000359794.5_Splice_Site|PFKM_ENST00000395233.2_Splice_Site	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle						fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCTCCTTTCAGGTATGAATGC	0.468000													5	136					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33588469	33588469	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:33588469G>A	ENST00000404816.2	+	29	4636	c.4283G>A	c.(4282-4284)tGc>tAc	p.C1428Y	LTBP1_ENST00000354476.3_Missense_Mutation_p.C1429Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.C1047Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.C1102Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1060Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1049Y|LTBP1_ENST00000272273.5_Missense_Mutation_p.C326Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1103Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1428	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCAGATGAATGCCTACTTTTT	0.383000													17	36					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38040921	38040921	+	Silent	SNP	G	G	A	rs142684855	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:38040921G>A	ENST00000599616.1	+	7	540	c.540G>A	c.(538-540)tcG>tcA	p.S180S	SH3BP1_ENST00000357436.4_Silent_p.S244S|SH3BP1_ENST00000336738.5_Silent_p.S244S|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.S244S			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	244	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CACTGAGCTCGCTGGACACAG	0.632000													10	22					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21592315	21592315	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:21592315C>T	ENST00000298925.5	+	19	2223	c.2070C>T	c.(2068-2070)ggC>ggT	p.G690G	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Silent_p.G615G|NELL1_ENST00000357134.5_Silent_p.G662G|NELL1_ENST00000325319.5_Silent_p.G605G			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	662					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACAGGATGGCAAGATATTCT	0.438000													15	58					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88956679	88956679	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:88956679C>A	ENST00000333190.4	+	3	880	c.271C>A	c.(271-273)Cgg>Agg	p.R91R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	91						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTAAAGCAACGGGAATTTGC	0.338000										HNSCC(36;0.09)			15	39					1.52009e-12	1.73276e-12	1	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262214	140262214	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140262214G>C	ENST00000289272.2	+	1	361	c.361G>C	c.(361-363)Gtg>Ctg	p.V121L	PCDHA13_ENST00000409494.1_Missense_Mutation_p.V121L|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGTGGAGGTGAAGGTGAG	0.542000													14	202					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452804	179452804	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179452804C>T	ENST00000589042.1	-	305	63554	c.63330G>A	c.(63328-63330)gcG>gcA	p.A21110A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.A18542A|TTN_ENST00000460472.2_Silent_p.A12045A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A12237A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.A12170A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A19469A|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19469	Fibronectin type-III 53.						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)			CATCAGGAGACGCATCTGCTA	0.453000													4	50					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75979935	75979935	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:75979935G>C	ENST00000308508.5	-	3	3563	c.3471C>G	c.(3469-3471)gaC>gaG	p.D1157E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1157	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CACTGCGGATGTCGAGGTTGG	0.657000													5	116					0	0	1	0	0
LCN10	414332	broad.mit.edu	37	9	139634424	139634424	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:139634424G>T	ENST00000497771.1	-	5	607	c.552C>A	c.(550-552)gcC>gcA	p.A184A	LCN6_ENST00000435202.1_3'UTR|LCN10_ENST00000527229.1_Silent_p.A148A|LCN10_ENST00000474369.1_Silent_p.A171A	NM_001001712.2	NP_001001712.2	Q6JVE6	LCN10_HUMAN	lipocalin 10	171					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGATGACGGCGGCCTTGGAGA	0.562000													3	4					6.4e-05	6.72845e-05	1	1	0
CDHR5	53841	broad.mit.edu	37	11	618910	618910	+	Missense_Mutation	SNP	G	G	C	rs148641095		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:618910G>C	ENST00000358353.3	-	14	1971	c.1649C>G	c.(1648-1650)cCg>cGg	p.P550R	CDHR5_ENST00000397542.2_Missense_Mutation_p.P550R|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	550	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGGGGGCATCGGCTGAGAGGT	0.677000													19	174					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833488	125833488	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:125833488C>T	ENST00000393434.2	-	18	2343	c.1994G>A	c.(1993-1995)aGt>aAt	p.S665N	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S564N|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S665N|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S675N	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	665	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTTCACGTTACTTATGGCACA	0.622000													18	61					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81568586	81568586	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:81568586C>A	ENST00000548058.1	+	8	2028	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	ACSS3_ENST00000261206.3_Missense_Mutation_p.P372Q|ACSS3_ENST00000548324.1_Missense_Mutation_p.P55Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	373						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTGGGAACACCAGATGCTGGC	0.438000													9	22					0.0581538	0.0588099	1	1	0
SPERT	220082	broad.mit.edu	37	13	46287426	46287426	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:46287426C>A	ENST00000378966.3	+	2	574	c.158C>A	c.(157-159)tCc>tAc	p.S53Y	SPERT_ENST00000310521.1_Missense_Mutation_p.S89Y			Q8NA61	SPERT_HUMAN	spermatid associated	89						cytoplasmic membrane-bounded vesicle		p.S89F(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGCCAGCACTCCTATCCACTG	0.682000													36	50					1.26612e-14	1.47371e-14	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152614863	152614863	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:152614863G>A	ENST00000367255.5	-	95	18473	c.17872C>T	c.(17872-17874)Ctc>Ttc	p.L5958F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L5958F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L482F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5887F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5887F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5570F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5958					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTCATAGAGTGTGCGCTGC	0.473000										HNSCC(10;0.0054)			37	52					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563731	75563731	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:75563731C>G	ENST00000336257.3	-	3	1946	c.552G>C	c.(550-552)cgG>cgC	p.R184R	CHST5_ENST00000541075.1_Silent_p.R190R|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	184					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGCAGGCCTCCCGGGCCAGGC	0.667000													5	226					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50121479	50121479	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:50121479C>G	ENST00000046087.2	-	3	294	c.225G>C	c.(223-225)atG>atC	p.M75I	ZPBP_ENST00000419417.1_Missense_Mutation_p.M75I	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	75					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTTGATGGAGCATGACATACG	0.353000													9	33					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71800902	71800902	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:71800902C>T	ENST00000373545.3	-	32	3934	c.3496G>A	c.(3496-3498)Gcc>Acc	p.A1166T	PHKA1_ENST00000541944.1_Missense_Mutation_p.A1136T|PHKA1_ENST00000373542.4_Missense_Mutation_p.A1208T|PHKA1_ENST00000373539.3_Missense_Mutation_p.A1225T|PHKA1_ENST00000339490.3_Missense_Mutation_p.A1195T			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1208					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACGTAGGTGGCGGCTGCCTTG	0.572000													9	23					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64525373	64525373	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:64525373C>G	ENST00000164139.3	-	5	936	c.538G>C	c.(538-540)Gcc>Ccc	p.A180P	PYGM_ENST00000377432.3_Missense_Mutation_p.A92P	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	180					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGTCATCGGCCTCCTCCATC	0.657000													3	41					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477257	58477257	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:58477257C>G	ENST00000344743.3	-	6	1014	c.873G>C	c.(871-873)tgG>tgC	p.W291C	GLYAT_ENST00000529732.1_Missense_Mutation_p.W291C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	291					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTACACAGTTCCACTGGTTCC	0.433000													7	100					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79357359	79357359	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:79357359G>A	ENST00000370742.3	-	14	1923	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	620			A -> G (in dbSNP:rs2275902).		neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAGAGCGAGGGCTCCTCTTG	0.468000													16	16					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34927039	34927039	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:34927039C>G	ENST00000356577.4	+	3	5977	c.5502C>G	c.(5500-5502)caC>caG	p.H1834Q	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.H1834Q|SON_ENST00000300278.4_Missense_Mutation_p.H1834Q|SON_ENST00000290239.6_Missense_Mutation_p.H1834Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1834					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTTCTGAACACAAATCACGCA	0.418000													7	68					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129916556	129916556	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:129916556G>C	ENST00000222481.4	+	7	729	c.674G>C	c.(673-675)gGa>gCa	p.G225A		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	225					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AACCCTGATGGATACGTGTTC	0.423000													8	77					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71341938	71341938	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:71341938C>G	ENST00000260382.5	+	16	2308	c.2048C>G	c.(2047-2049)aCa>aGa	p.T683R	LRRC49_ENST00000560369.1_Missense_Mutation_p.T688R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.T639R|LRRC49_ENST00000560691.1_Missense_Mutation_p.T389R|LRRC49_ENST00000560158.2_Missense_Mutation_p.T371R|LRRC49_ENST00000544974.2_Missense_Mutation_p.T673R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	683						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CAGCAGATAACAGACCAAAAA	0.343000													13	76					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96951035	96951035	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:96951035C>T	ENST00000323853.5	-	30	4124	c.4047G>A	c.(4045-4047)ggG>ggA	p.G1349G	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1349	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCGTGGGGGCCCCCACAAACA	0.527000													32	68					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8504347	8504347	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:8504347C>T	ENST00000381196.4	-	20	2279	c.1736G>A	c.(1735-1737)aGc>aAc	p.S579N	PTPRD_ENST00000397611.3_Missense_Mutation_p.S576N|PTPRD_ENST00000356435.5_Missense_Mutation_p.S579N|PTPRD_ENST00000537002.1_Missense_Mutation_p.S576N|PTPRD_ENST00000355233.5_Missense_Mutation_p.S579N|PTPRD_ENST00000486161.1_Missense_Mutation_p.S579N|PTPRD_ENST00000540109.1_Missense_Mutation_p.S579N|PTPRD_ENST00000397617.3_Missense_Mutation_p.S569N|PTPRD_ENST00000360074.4_Missense_Mutation_p.S566N|PTPRD_ENST00000358503.5_Missense_Mutation_p.S566N|PTPRD_ENST00000397606.3_Missense_Mutation_p.S569N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	579	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAGTATAAGCTGTTTGGTTT	0.463000										TSP Lung(15;0.13)			17	88					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37704676	37704676	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:37704676C>G	ENST00000220659.6	-	3	352	c.232G>C	c.(232-234)Gac>Cac	p.D78H	BRF2_ENST00000520601.1_Missense_Mutation_p.D78H|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	78					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CGACAAAGGTCTCTCACTCGC	0.527000													6	128					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86362059	86362059	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:86362059G>C	ENST00000370571.2	-	29	3178	c.2812C>G	c.(2812-2814)Caa>Gaa	p.Q938E	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q938E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	938	Collagen-like 7.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGTATACCTTGTTCCCCTAAG	0.313000													24	41					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967279	52967279	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:52967279C>T	ENST00000549343.1	-	1	321	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	KRT74_ENST00000305620.2_Missense_Mutation_p.G95S			Q7RTS7	K2C74_HUMAN	keratin 74	95	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCACACTGCCAAACATACTG	0.637000													33	53					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218248	130218248	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:130218248C>A	ENST00000276211.5	+	5	960	c.615C>A	c.(613-615)acC>acA	p.T205T	ARHGAP36_ENST00000370922.1_Silent_p.T193T|ARHGAP36_ENST00000370921.1_Silent_p.T69T	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	205					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTGCAGACCCTGCAGCTTT	0.473000													8	41					0.000274275	0.000285836	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10602878	10602878	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10602878G>A	ENST00000171111.5	-	3	1247	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	KEAP1_ENST00000393623.2_Missense_Mutation_p.R234W|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	234	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AGGTCGTCCCGGCTGATGAGG	0.612000													11	48					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228163400	228163400	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:228163400G>A	ENST00000396578.3	+	43	3916	c.3754G>A	c.(3754-3756)Gcg>Acg	p.A1252T	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|COL4A3_ENST00000468753.1_3'UTR	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1252	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAATTCAGGTGCGCCTGGTCC	0.483000													18	46					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37169351	37169351	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:37169351C>G	ENST00000274258.7	-	34	7002	c.3415G>C	c.(3415-3417)Gag>Cag	p.E1139Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.E2259Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E2259Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2259										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCCCAAGCCTCTCTTGGTTGT	0.448000													4	178					0	0	1	0	0
PLA2G2C	391013	broad.mit.edu	37	1	20490636	20490636	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:20490636C>A	ENST00000429261.2	-	4	358	c.298G>T	c.(298-300)Ggt>Tgt	p.G100C	PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G101C|PLA2G2C_ENST00000495760.2_Intron					phospholipase A2, group IIC											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCACCAGGACCAAGGGTGCAT	0.582000													6	18					0.00198382	0.00205252	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30749037	30749037	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:30749037C>G	ENST00000262518.4	+	34	8061	c.7676C>G	c.(7675-7677)gCa>gGa	p.A2559G	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2497G|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2401G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2559	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGCATTGGCATCTCCAGAG	0.562000													4	83					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521020	33521020	+	Missense_Mutation	SNP	G	G	A	rs143192040		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:33521020G>A	ENST00000297307.5	-	1	392	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	103	DUF6 1.					integral to membrane											AAGAAGGCCCGGCTTCGGATG	0.597000													96	144					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912204	100912204	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:100912204C>T	ENST00000328766.5	-	5	824	c.371G>A	c.(370-372)gGg>gAg	p.G124E	ARMCX2_ENST00000356824.4_Missense_Mutation_p.G124E|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G124E	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	124	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GGCCTTAGGCCCAACCCCGGC	0.637000													30	57					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742738	10742738	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10742738G>C	ENST00000586078.1	+	10	838	c.729G>C	c.(727-729)atG>atC	p.M243I	SLC44A2_ENST00000407327.4_Missense_Mutation_p.M241I|SLC44A2_ENST00000335757.5_Missense_Mutation_p.M243I	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	243					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCATTGCCATGGCGATGAGCC	0.572000													6	204					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327882	88327882	+	Missense_Mutation	SNP	G	G	C	rs144076922		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:88327882G>C	ENST00000325089.6	+	2	458	c.239G>C	c.(238-240)cGt>cCt	p.R80P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	80						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGCCCTCCCCGTTTCCCAATC	0.458000													76	140					0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31046317	31046317	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:31046317G>T	ENST00000394998.1	+	6	671	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	STX4_ENST00000313843.3_Missense_Mutation_p.D112Y|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	112					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGAGGAAGCTGATGAGAACTA	0.393000													21	107					4.26978e-12	4.85171e-12	1	1	0
KLHL13	90293	broad.mit.edu	37	X	117033123	117033123	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:117033123G>T	ENST00000371876.1	-	6	3984	c.1563C>A	c.(1561-1563)gcC>gcA	p.A521A	KLHL13_ENST00000262820.3_Silent_p.A572A|KLHL13_ENST00000541812.1_Silent_p.A556A|KLHL13_ENST00000540167.1_Silent_p.A556A|KLHL13_ENST00000545703.1_Silent_p.A530A|KLHL13_ENST00000371882.1_Silent_p.A521A|KLHL13_ENST00000469946.1_Silent_p.A521A|KLHL13_ENST00000371878.1_Silent_p.A521A|KLHL13_ENST00000539496.1_Silent_p.A575A			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	572					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTCTTAACATGGCAGCAATTG	0.433000													34	169					1.45844e-13	1.67849e-13	1	1	0
CYP2R1	120227	broad.mit.edu	37	11	14902204	14902204	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:14902204C>G	ENST00000334636.5	-	3	524	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	160					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TTGGTTTCTTCCAAGATTTTA	0.338000													5	28					0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47487641	47487641	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:47487641G>T	ENST00000247153.3	-	4	504	c.263C>A	c.(262-264)cCc>cAc	p.P88H	CFP_ENST00000377005.2_Missense_Mutation_p.P88H|CFP_ENST00000396992.3_Missense_Mutation_p.P88H|CFP_ENST00000480317.1_5'UTR	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	88	TSP type-1 1.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CACCGAACAGGGGGCCCATGT	0.622000													14	15					6.31663e-08	6.89349e-08	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41967276	41967276	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:41967276C>G	ENST00000298919.7	+	10	2303	c.1915C>G	c.(1915-1917)Cgg>Ggg	p.R639G	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R641G|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R899G			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	899							ubiquitin-protein ligase activity|zinc ion binding	p.R641G(1)|p.R899G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGACGGGACACGGTACATCAC	0.517000													16	105					0	0	1	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24464335	24464335	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:24464335G>C	ENST00000335125.6	+	3	527	c.401G>C	c.(400-402)tGg>tCg	p.W134S	DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.W134S|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.W134S|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.W132S|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.W33S	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	74							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GAGGAGGTGTGGGACAAGGTG	0.507000													36	387					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013708	6013708	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:6013708C>G	ENST00000259569.5	-	1	1910	c.1900G>C	c.(1900-1902)Gtt>Ctt	p.V634L	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	634					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGCTCGATAACCAGTGGAAGG	0.408000													61	104					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8218736	8218736	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:8218736C>T	ENST00000539824.1	+	7	827	c.453C>T	c.(451-453)ccC>ccT	p.P151P	SH3TC1_ENST00000245105.3_Silent_p.P227P			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	227							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGACGGGTCCCCGGGATGCAG	0.662000													26	46					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90055237	90055237	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:90055237G>C	ENST00000405460.2	+	58	12048	c.11952G>C	c.(11950-11952)atG>atC	p.M3984I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3984	Calx-beta 26.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTACTGCAATGATAGAAATCA	0.388000													4	0					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61232769	61232769	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:61232769G>C	ENST00000382768.1	+	6	797	c.797G>C	c.(796-798)aGg>aCg	p.R266T	SERPINB12_ENST00000269491.1_Missense_Mutation_p.R246T			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	246					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGGAAATGAGGTACACCAAG	0.453000													5	83					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91993742	91993742	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:91993742G>C	ENST00000450295.1	-	16	3242	c.2466C>G	c.(2464-2466)atC>atG	p.I822M	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.I822M|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.I822M|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.I822M			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	822					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.I822I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTGCTGGTGATGGTGTCTT	0.577000													9	55					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151673115	151673115	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:151673115G>A	ENST00000402676.2	+	4	3829	c.3589G>A	c.(3589-3591)Gag>Aag	p.E1197K	AKAP12_ENST00000354675.6_Missense_Mutation_p.E1099K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1092K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1197K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1197					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AATCCATGAGGAGAATGAGGT	0.547000													18	100					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532501	16532501	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:16532501C>A	ENST00000270747.3	-	8	1512	c.1376G>T	c.(1375-1377)tGc>tTc	p.C459F	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Missense_Mutation_p.C459F	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	459	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGCCGGGCAGTGGTCCAG	0.652000													5	8					0.00198382	0.00205252	1	1	0
TTC17	55761	broad.mit.edu	37	11	43469657	43469657	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:43469657C>G	ENST00000039989.4	+	19	2785	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	924							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTGCAGTTTCTTCAAAAAAC	0.502000													6	36					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17415891	17415891	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:17415891G>C	ENST00000302539.4	-	37	4595	c.4470C>G	c.(4468-4470)ttC>ttG	p.F1490L	ABCC8_ENST00000389817.3_Missense_Mutation_p.F1489L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1489	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGCCAGGCAGAACAGCTGCC	0.572000													24	51					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282944	152282944	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:152282944G>C	ENST00000368799.1	-	3	4453	c.4418C>G	c.(4417-4419)gCa>gGa	p.A1473G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1473	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)			GCTGTTTCGTGCCTGCTCATG	0.577000									Ichthyosis				119	263					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23536649	23536649	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:23536649T>A	ENST00000449606.1	-	8	1435	c.1404A>T	c.(1402-1404)gaA>gaT	p.E468D	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Missense_Mutation_p.E468D|EARS2_ENST00000563459.1_Missense_Mutation_p.E468D|EARS2_ENST00000564501.1_Missense_Mutation_p.E468D	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	468					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	GCTTCTTCAGTTCTCCATTCA	0.498000													29	46					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14552082	14552082	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:14552082T>G	ENST00000242783.6	+	2	314	c.149T>G	c.(148-150)cTg>cGg	p.L50R	PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Missense_Mutation_p.L56R	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	50					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGCAAGGAGCTGAAGCTGAAG	0.736000													4	6					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8178497	8178497	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:8178497G>C	ENST00000402384.3	-	12	1299	c.1033C>G	c.(1033-1035)Cta>Gta	p.L345V	ICA1_ENST00000265577.7_Missense_Mutation_p.L344V|ICA1_ENST00000422063.2_Missense_Mutation_p.L374V|ICA1_ENST00000396675.3_Missense_Mutation_p.L345V|ICA1_ENST00000406470.2_Missense_Mutation_p.L345V|ICA1_ENST00000401396.1_Missense_Mutation_p.L333V			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	345					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATGTCTAATAGTTCATCTATG	0.284000													4	74					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8528601	8528601	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:8528601C>A	ENST00000381196.4	-	12	1074	c.531G>T	c.(529-531)caG>caT	p.Q177H	PTPRD_ENST00000397611.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000463477.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q177H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q177H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	177	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGATCGTAACTGCTTAATAC	0.338000										TSP Lung(15;0.13)			61	99					6.56249e-45	8.28399e-45	1	1	0
AREL1	9870	broad.mit.edu	37	14	75142547	75142547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:75142547C>T	ENST00000356357.4	-	8	1450	c.935G>A	c.(934-936)tGg>tAg	p.W312*	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TGGCAGGTGCCATGGAGTGCT	0.527000													75	128					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28459739	28459739	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:28459739A>G	ENST00000545336.1	+	8	751	c.332A>G	c.(331-333)aAa>aGa	p.K111R	CCDC91_ENST00000539107.1_Missense_Mutation_p.K111R|CCDC91_ENST00000381256.1_Missense_Mutation_p.K111R|CCDC91_ENST00000381259.1_Missense_Mutation_p.K111R|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.K81R			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	111					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACTGATGAAAAAAGTAATGGA	0.353000													24	46					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131858334	131858334	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:131858334G>C	ENST00000318080.2	-	13	1902	c.1608C>G	c.(1606-1608)gaC>gaG	p.D536E		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	536					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCATGAAGATGTCGGGCATGC	0.657000													14	162					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50725112	50725112	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:50725112C>G	ENST00000515869.1	-	6	1573	c.1453G>C	c.(1453-1455)Gat>Cat	p.D485H	PGBD3_ENST00000508005.2_Missense_Mutation_p.D17H|PGBD3_ENST00000603152.1_Missense_Mutation_p.D485H|PGBD3_ENST00000374127.3_Missense_Mutation_p.D17H|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D485H|ERCC6_ENST00000355832.5_Intron	NM_001277059.1	NP_001263988.1												p.D17Y(1)									ATGCTGTCATCTGTCTCTAAA	0.393000													5	137					0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100334069	100334069	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:100334069C>A	ENST00000372930.4	+	1	361	c.78C>A	c.(76-78)atC>atA	p.I26I		NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	26						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TGGGGACTATCAAGCTGACCC	0.567000													20	21					4.96729e-08	5.45413e-08	1	1	0
GRK7	131890	broad.mit.edu	37	3	141497592	141497592	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:141497592G>C	ENST00000264952.2	+	1	603	c.466G>C	c.(466-468)Gct>Cct	p.A156P		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	156	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGAGGCCATGGCTTTCTTGCA	0.567000													5	58					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27254337	27254337	+	Splice_Site	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:27254337G>A	ENST00000361042.4	+	7	931	c.707_splice	c.e7+1	p.G236_splice	WASF3_ENST00000335327.5_Intron			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	239					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGTGCCCAGCGGGTTTGTTGT	0.527000													3	34					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18856866	18856866	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:18856866G>C	ENST00000446231.2	-	39	6516	c.6104C>G	c.(6103-6105)cCt>cGt	p.P2035R	SMG1_ENST00000389467.3_Missense_Mutation_p.P2035R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2035					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTTTCATGAGGTGTTTCTGC	0.458000													5	65					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678013	73678013	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:73678013G>T	ENST00000264448.6	+	8	4467	c.4356G>T	c.(4354-4356)ttG>ttT	p.L1452F	ALMS1_ENST00000409009.1_Missense_Mutation_p.L1410F|ALMS1_ENST00000377715.1_Missense_Mutation_p.L1452F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1452	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAGGCTTTGGAAGTTTCAG	0.473000													78	111					5.02462e-34	6.26549e-34	1	1	0
PKN2	5586	broad.mit.edu	37	1	89272996	89272996	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:89272996G>C	ENST00000370521.3	+	13	2163	c.1803_splice	c.e13-1	p.D602_splice	PKN2_ENST00000544045.1_Splice_Site_p.D276_splice|PKN2_ENST00000370513.5_Splice_Site_p.D554_splice|PKN2_ENST00000370505.3_Splice_Site_p.D445_splice	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	602					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TATTTTACAGGATTCAGAGAC	0.294000													5	59					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573746	136573746	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:136573746G>C	ENST00000446465.2	+	2	1072	c.444G>C	c.(442-444)gtG>gtC	p.V148V	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.V148V|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	148	DUF6 1.					Golgi apparatus|integral to membrane											TCTTATCTGTGTTAGTTGTGT	0.403000													24	160					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072817	134072817	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:134072817C>G	ENST00000264360.4	+	1	2348	c.1522C>G	c.(1522-1524)Cag>Gag	p.Q508E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	508	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTGCCAGATCCAGGGCATGAG	0.572000													43	63					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43327243	43327243	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:43327243G>C	ENST00000380486.3	-	10	1417	c.1176C>G	c.(1174-1176)tcC>tcG	p.S392S	C2CD2_ENST00000329623.7_Silent_p.S237S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	392						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGATGGGCCAGGATTTCAATT	0.512000													4	45					0	0	1	0	0
YIPF5	81555	broad.mit.edu	37	5	143543740	143543740	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:143543740T>A	ENST00000274496.5	-	4	498	c.364A>T	c.(364-366)Atg>Ttg	p.M122L	YIPF5_ENST00000513112.1_Missense_Mutation_p.M68L|YIPF5_ENST00000448443.2_Missense_Mutation_p.M122L	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	122					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTTTCATTCATGATGCTGCCA	0.368000													24	37					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299719	62299719	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:62299719C>G	ENST00000378024.4	-	5	2444	c.2170G>C	c.(2170-2172)Gga>Cga	p.G724R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	724					nervous system development	nucleus	protein binding	p.G724*(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGAGTTCTCCTTCCAGCTTT	0.463000													6	249					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165218793	165218793	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:165218793G>T	ENST00000342310.3	-	4	730	c.348C>A	c.(346-348)caC>caA	p.H116Q	LMX1A_ENST00000367893.4_Missense_Mutation_p.H116Q|LMX1A_ENST00000294816.2_Missense_Mutation_p.H116Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	116	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGCAGCTCAGGTGGTATACAC	0.552000													21	26					1.55795e-14	1.81045e-14	1	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140797444	140797444	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140797444G>T	ENST00000398594.2	+	1	18	c.18G>T	c.(16-18)gcG>gcT	p.A6A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGCGCGCAGAggcgcc	0.627000											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0.004672	0.00479917	1	1	0
FBXO34	55030	broad.mit.edu	37	14	55818712	55818712	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:55818712C>T	ENST00000313833.4	+	2	1849	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	FBXO34_ENST00000440021.1_Missense_Mutation_p.A535V	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	535										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GTACTGCCAGCCTCTTCTGTG	0.502000													61	95					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157921034	157921034	+	Splice_Site	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:157921034G>T	ENST00000295930.3	+	4	656	c.494_splice	c.e4+1	p.G165_splice	RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Splice_Site_p.G165_splice|RSRC1_ENST00000475278.2_Splice_Site_p.G165_splice|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	165					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATCAAACGTGGGTAAGTTGGA	0.408000													6	5					1	1	1	1	0
WDR25	79446	broad.mit.edu	37	14	100847552	100847552	+	Missense_Mutation	SNP	G	G	C	rs139361032		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:100847552G>C	ENST00000335290.6	+	2	517	c.291G>C	c.(289-291)caG>caC	p.Q97H	WDR25_ENST00000402312.3_Missense_Mutation_p.Q97H|WDR25_ENST00000554998.1_Missense_Mutation_p.Q97H|WDR25_ENST00000554175.1_Missense_Mutation_p.97_97insH	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	97										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AGAGGCTACAGTGGCCCGGGA	0.592000													11	65					0	0	1	0	0
CLEC2D	29121	broad.mit.edu	37	12	9847437	9847437	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:9847437G>C	ENST00000290855.6	+	5	565	c.543G>C	c.(541-543)aaG>aaC	p.K181N	CLEC2D_ENST00000261340.7_3'UTR|CLEC2D_ENST00000261339.6_Missense_Mutation_p.K144N	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	181	C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						CAGAGAGGAAGTGGATTTGTT	0.418000													10	45					0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74454625	74454625	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:74454625G>T	ENST00000334696.6	-	4	500	c.181C>A	c.(181-183)Cga>Aga	p.R61R	ENTPD5_ENST00000556242.1_Silent_p.R61R|ENTPD5_ENST00000557325.1_Silent_p.R61R	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	61					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		ACATGAATTCGAGTTCCAGTG	0.463000													3	24					0.004672	0.00479917	1	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140616255	140616255	+	RNA	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140616255C>T	ENST00000526308.1	+	0	2318					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTGTTCGTGGCGGTGCGGCTG	0.687000													51	115					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64518682	64518682	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:64518682G>A	ENST00000358025.3	+	48	8281	c.8051G>A	c.(8050-8052)gGg>gAg	p.G2684E	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G2684E|SYNE2_ENST00000554584.1_Missense_Mutation_p.G2717E	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2684					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTTTAAAGGGGCAAGCTGAA	0.428000													46	74					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57509997	57509997	+	Translation_Start_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:57509997G>C	ENST00000420713.1	+	1	115	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GCAGATTTATGGCTAAAAGAC	0.587000													17	27					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150316	34150316	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:34150316G>C	ENST00000346193.3	-	1	131	c.80C>G	c.(79-81)tCc>tGc	p.S27C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	27										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAAGCACTTGGAAGGCCGTTT	0.617000													4	97					0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44108589	44108589	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:44108589G>C	ENST00000342873.3	+	1	511	c.78G>C	c.(76-78)gaG>gaC	p.E26D	WFDC2_ENST00000372676.3_Missense_Mutation_p.E77D|WFDC2_ENST00000339946.3_Missense_Mutation_p.E29D|WFDC2_ENST00000488143.1_3'UTR			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	77					proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CAGATAAGGAGGGTTCCTGCC	0.577000													37	243					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396269	125396269	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:125396269C>G	ENST00000536769.1	-	1	3625	c.2049G>C	c.(2047-2049)ggG>ggC	p.G683G	UBC_ENST00000546120.1_Silent_p.G607G|UBC_ENST00000339647.5_Silent_p.G683G|UBC_ENST00000538617.1_Silent_p.G303G			P0CG48	UBC_HUMAN	ubiquitin C	683	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTAGACACCCCCCCTCAAGC	0.423000													37	62					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196388068	196388068	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:196388068C>T	ENST00000328557.4	+	3	1757	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		TCCTGTCTCTCAGGAACATGG	0.557000													19	128					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31202320	31202320	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:31202320G>C	ENST00000254108.7	+	14	1535	c.1430G>C	c.(1429-1431)gGa>gCa	p.G477A	FUS_ENST00000568685.1_Missense_Mutation_p.G478A|FUS_ENST00000380244.3_Missense_Mutation_p.G476A|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	477	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GGTGGCAGAGGAGGCTATGAT	0.632000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								18	115					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135392397	135392397	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:135392397C>G	ENST00000442011.2	+	12	1752	c.1591C>G	c.(1591-1593)Ctc>Gtc	p.L531V	TGFBI_ENST00000305126.8_Missense_Mutation_p.L531V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	531	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACGGAGACCCTCAACCGGGA	0.502000													4	46					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183283	197183283	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:197183283A>G	ENST00000260983.2	-	9	2513	c.2331T>C	c.(2329-2331)gcT>gcC	p.A777A	HECW2_ENST00000409111.1_Silent_p.A421A	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	777	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TACCTCCAGTAGCGCCCTCCT	0.587000													26	38					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11441499	11441499	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:11441499G>A	ENST00000423059.3	-	23	4585	c.4334C>T	c.(4333-4335)tCc>tTc	p.S1445F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1445	TSP type-1 15.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACCGGTCTGGATCTGACCTG	0.453000										HNSCC(18;0.044)			11	64					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106975295	106975295	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:106975295G>C	ENST00000369066.3	+	5	3791	c.3304G>C	c.(3304-3306)Gca>Cca	p.A1102P		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1102	Beta/gamma crystallin 'Greek key' 2.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCACGAAGAAGCAGAGTCTGA	0.413000													33	201					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805567	46805567	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:46805567T>G	ENST00000290295.7	-	1	973	c.389A>C	c.(388-390)tAt>tCt	p.Y130S		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	130					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ATATCCCGGATAGAAGGCAAA	0.642000													81	112					0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154528136	154528136	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:154528136T>C	ENST00000369449.2	-	3	473	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	85	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTCCTCAATTTTAATGAAGT	0.373000													33	33					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204039942	204039942	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:204039942G>T	ENST00000449802.1	+	41	6642	c.6309G>T	c.(6307-6309)gcG>gcT	p.A2103A		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2103	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAATTCTGCGGGGGTCATGC	0.368000													20	29					1.50039e-11	1.69681e-11	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119626005	119626005	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:119626005C>T	ENST00000313400.4	-	11	1997	c.1897G>A	c.(1897-1899)Gcg>Acg	p.A633T	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.A629T|ASTN2_ENST00000361209.2_Missense_Mutation_p.A582T			O75129	ASTN2_HUMAN	astrotactin 2	633						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GACAGCATCGCTTCTTCCCTT	0.433000													9	39					0	0	1	0	0
STRADA	92335	broad.mit.edu	37	17	61787874	61787874	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:61787874G>C	ENST00000245865.5	-	7	593	c.384C>G	c.(382-384)atC>atG	p.I128M	STRADA_ENST00000582137.1_Missense_Mutation_p.I157M|STRADA_ENST00000392950.4_Missense_Mutation_p.I149M|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000375840.4_Missense_Mutation_p.I128M|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.I186M|STRADA_ENST00000579340.1_Missense_Mutation_p.I128M|STRADA_ENST00000447001.3_Missense_Mutation_p.I142M			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	186	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CCATGTGGTGGATGTAGTCGA	0.502000													8	42					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133502284	133502284	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:133502284G>T	ENST00000253861.4	+	11	1750	c.1721G>T	c.(1720-1722)cGg>cTg	p.R574L	EXOC4_ENST00000539845.1_Missense_Mutation_p.R473L|EXOC4_ENST00000545148.1_Missense_Mutation_p.R184L|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	574					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGAGTGCAGCGGCCTCTCCTA	0.398000													6	24					0.00116845	0.00121417	1	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756658	94756658	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:94756658G>C	ENST00000554723.1	-	2	811	c.393C>G	c.(391-393)tcC>tcG	p.S131S	SERPINA10_ENST00000261994.4_Silent_p.S91S|SERPINA10_ENST00000393096.1_Silent_p.S91S|SERPINA10_ENST00000554173.1_Silent_p.S91S			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	91					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CGTGCCTCATGGAGATCTTTC	0.557000													9	27					0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6311533	6311533	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:6311533C>A	ENST00000377893.2	-	4	1103	c.844G>T	c.(844-846)Gtg>Ttg	p.V282L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	282						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V282M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CACCACAGCACGCAGAGTGCC	0.692000													18	24					5.3912e-06	5.74368e-06	1	1	0
POLDIP2	26073	broad.mit.edu	37	17	26677586	26677586	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:26677586G>A	ENST00000540200.1	-	10	786	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	264	ApaG.					mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ATACAGTAGCGCCACTGAGGT	0.483000													6	51					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:135314194G>C	ENST00000316077.9	-	8	1142	c.922C>G	c.(922-924)Cag>Gag	p.Q308E	MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q273E|MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q290E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532000													8	258					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903237	4903237	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:4903237C>G	ENST00000380378.1	+	1	189	c.189C>G	c.(187-189)ctC>ctG	p.L63L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.L36L	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGCTGTCTCTACACCATTG	0.463000													8	90					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964054	123964054	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:123964054C>G	ENST00000314393.4	+	3	1139	c.304C>G	c.(304-306)Ccc>Gcc	p.P102A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	102						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)			CATGCAGCATCCCAACGTGAT	0.498000													7	105					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84231042	84231042	+	Missense_Mutation	SNP	G	G	A	rs151221865	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:84231042G>A	ENST00000376499.3	-	11	1837	c.773C>T	c.(772-774)tCt>tTt	p.S258F	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	258	CCN domain.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TCGCGGAGAAGAAGGGTCCTC	0.478000													51	86					0	0	1	0	0
CCDC120	90060	broad.mit.edu	37	X	48924782	48924782	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:48924782C>A	ENST00000376396.3	+	10	1246	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	CCDC120_ENST00000536628.2_Missense_Mutation_p.P331T|CCDC120_ENST00000496529.2_Missense_Mutation_p.P343T|CCDC120_ENST00000603986.1_Missense_Mutation_p.P378T|CCDC120_ENST00000422185.2_Missense_Mutation_p.P343T|CCDC120_ENST00000597275.1_Missense_Mutation_p.P343T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	343							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCGGGCGGACCCTGCCTCCGA	0.677000													26	34					4.47668e-21	5.45881e-21	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6588637	6588637	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6588637C>G	ENST00000254579.6	+	36	12462	c.11898C>G	c.(11896-11898)agC>agG	p.S3966R	DNHD1_ENST00000527990.2_Missense_Mutation_p.S3966R	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3966					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCTCCCAGCACAGTCCACA	0.582000													6	16					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													3	14					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124330610	124330610	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:124330610G>C	ENST00000409039.3	+	31	5394	c.5369G>C	c.(5368-5370)gGa>gCa	p.G1790A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1790	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGCACGGGAACCTTTGGC	0.597000													4	114					0	0	1	0	0
C4orf33	132321	broad.mit.edu	37	4	130027803	130027803	+	Splice_Site	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:130027803G>A	ENST00000281146.4	+	3	963		c.e3+1		C4orf33_ENST00000502887.1_Splice_Site|C4orf33_ENST00000425929.1_Splice_Site	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AACTTTGTCCGTAAGTATAAA	0.249000													3	17					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38640529	38640529	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:38640529C>G	ENST00000413689.1	-	13	2096	c.1903G>C	c.(1903-1905)Gag>Cag	p.E635Q	SCN5A_ENST00000455624.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.E635Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.E635Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.E635Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.E635Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	635					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTGGCTCCTCCGATGGCGTG	0.667000													14	25					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130493269	130493269	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:130493269C>G	ENST00000373289.3	+	14	2287	c.2207C>G	c.(2206-2208)aCt>aGt	p.T736S	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	736							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCCAGCAAGACTGAGGCCACT	0.652000													8	43					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:52595854G>A	ENST00000395489.2	-	8	959	c.563C>T	c.(562-564)gCg>gTg	p.A188V	A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488000													35	54					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36162703	36162703	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:36162703A>G	ENST00000378660.1	+	11	1474	c.1286A>G	c.(1285-1287)gAg>gGg	p.E429G	CHDC2_ENST00000313548.4_Missense_Mutation_p.E429G					calponin homology domain containing 2																		tttccaaaggagatggatgca	0.473000													27	38					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412557	110412557	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:110412557G>C	ENST00000378402.5	+	13	1369	c.1265G>C	c.(1264-1266)gGa>gCa	p.G422A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	422					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCCAGACTGGACTTCCAGAA	0.353000										HNSCC(38;0.096)			7	143					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591069	86591069	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:86591069A>G	ENST00000370571.2	-	3	1316	c.950T>C	c.(949-951)cTt>cCt	p.L317P	COL24A1_ENST00000436319.1_Missense_Mutation_p.L317P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	317					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTGACTGAAGAGAAGATAA	0.378000													25	43					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589514	156589514	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:156589514C>T	ENST00000302938.4	-	2	1857	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	588						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCATAGTGCCACTGATCATC	0.507000													110	153					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167278004	167278004	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:167278004C>G	ENST00000308378.3	-	5	804	c.499G>C	c.(499-501)Gat>Cat	p.D167H	WDR49_ENST00000453925.2_Missense_Mutation_p.D220H|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_5'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	167										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GACCCTGTATCAGAGCTGATT	0.373000													27	29					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5276627	5276627	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:5276627C>A	ENST00000262477.6	+	13	2127	c.1903C>A	c.(1903-1905)Cgg>Agg	p.R635R	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.R635R|RABEP1_ENST00000341923.6_Silent_p.R635R|RABEP1_ENST00000546142.2_Silent_p.R635R|RABEP1_ENST00000537505.1_Silent_p.R592R	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	635					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GATGCAGTCACGGGAACAGGT	0.458000													13	11					1.36491e-13	1.57338e-13	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200969636	200969636	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:200969636C>A	ENST00000332129.2	-	11	1883	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	KIF21B_ENST00000360529.5_Missense_Mutation_p.A523S|KIF21B_ENST00000461742.2_Missense_Mutation_p.A523S|KIF21B_ENST00000422435.2_Missense_Mutation_p.A523S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	523					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AAGGCCGGGGCGGCTGGAGAA	0.652000													36	77					1.60099e-16	1.89737e-16	1	1	0
LMLN	89782	broad.mit.edu	37	3	197762833	197762833	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:197762833C>G	ENST00000330198.4	+	15	1808	c.1786C>G	c.(1786-1788)Cca>Gca	p.P596A	LMLN_ENST00000332636.5_Missense_Mutation_p.P544A|LMLN_ENST00000482695.1_Missense_Mutation_p.P581A|LMLN_ENST00000420910.2_Missense_Mutation_p.P633A	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	596					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCTGCTCTGCCCATCATGTTG	0.522000													8	100					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100654570	100654570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:100654570C>T	ENST00000358544.2	+	34	5938	c.5827C>T	c.(5827-5829)Cga>Tga	p.R1943*	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1918*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1943					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAGCCTGGTCGAAGAGGAAC	0.468000													6	204					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92733679	92733679	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:92733679C>G	ENST00000370360.3	-	10	1072	c.991G>C	c.(991-993)Gtt>Ctt	p.V331L	GLMN_ENST00000534881.1_Missense_Mutation_p.V331L	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	331					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTGGAGATAACAGACTCTTCT	0.264000									Multiple Glomus Tumors (of the Skin), Familial				21	35					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46320063	46320063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:46320063C>A	ENST00000465950.1	-	1	3685	c.2476G>T	c.(2476-2478)Gga>Tga	p.G826*	SCAF11_ENST00000419565.2_Nonsense_Mutation_p.G1141*|SCAF11_ENST00000549162.1_Nonsense_Mutation_p.G949*|SCAF11_ENST00000369367.3_Nonsense_Mutation_p.G1141*			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1141					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGTCCATCCAGATCTATCT	0.448000													33	108					8.4185e-14	9.75132e-14	1	1	0
WBP2NL	164684	broad.mit.edu	37	22	42418255	42418255	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:42418255G>T	ENST00000328823.9	+	5	440	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	WBP2NL_ENST00000543212.1_Missense_Mutation_p.A63S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	137					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CTTTCCAGCTGCCCGAGGATT	0.373000													23	56					7.41877e-09	8.22217e-09	1	1	0
MACF1	23499	broad.mit.edu	37	1	39750068	39750068	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:39750068G>C	ENST00000564288.1	+	11	1876	c.1099G>C	c.(1099-1101)Gga>Cga	p.G367R	MACF1_ENST00000361689.2_Missense_Mutation_p.G372R|MACF1_ENST00000539005.1_Missense_Mutation_p.G372R|MACF1_ENST00000545844.1_Missense_Mutation_p.G372R|MACF1_ENST00000372915.3_Missense_Mutation_p.G372R|MACF1_ENST00000317713.7_Missense_Mutation_p.G372R|MACF1_ENST00000567887.1_Missense_Mutation_p.G404R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	372					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAGAAAAAGGAAGAATTGA	0.333000													4	46					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112471741	112471741	+	Silent	SNP	G	G	A	rs70940810		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:112471741G>A	ENST00000230538.7	-	17	2542	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	LAMA4_ENST00000424408.2_Silent_p.A708A|LAMA4_ENST00000522006.1_Silent_p.A708A|LAMA4_ENST00000389463.4_Silent_p.A708A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	715	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTGCTTAACGGCATCACTGA	0.488000													17	63					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39797792	39797792	+	Missense_Mutation	SNP	G	G	A	rs66563620		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:39797792G>A	ENST00000373272.2	+	22	2962	c.2557G>A	c.(2557-2559)Gtg>Atg	p.V853M	PLCG1_ENST00000244007.3_Missense_Mutation_p.V853M|PLCG1_ENST00000373271.1_Missense_Mutation_p.V853M	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	853					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGTCAACCCCGTGGCCCTGGA	0.587000													22	30					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144558	12144558	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:12144558G>A	ENST00000263932.2	+	2	323	c.101G>A	c.(100-102)aGc>aAc	p.S34N	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	34					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAACCCCAGCCACTACTAT	0.582000													37	71					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3712512	3712512	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:3712512C>T	ENST00000378251.1	-	1	556	c.529G>A	c.(529-531)Gcg>Acg	p.A177T		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	177					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGGGGCAGCGCGCCGGGGCGA	0.697000													8	9					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33461810	33461810	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:33461810G>C	ENST00000265112.3	+	14	1901	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	TARS_ENST00000502553.1_Missense_Mutation_p.W530C|TARS_ENST00000455217.2_Missense_Mutation_p.W563C|TARS_ENST00000414361.2_Missense_Mutation_p.W409C|TARS_ENST00000541634.1_Missense_Mutation_p.W426C|TARS_ENST00000509410.1_3'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	530					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GTGAAAAGTGGGAGTTAAACT	0.358000													6	141					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848756	166848756	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:166848756G>T	ENST00000423058.2	-	26	5046	c.5029C>A	c.(5029-5031)Ctc>Atc	p.L1677I	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1677I|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1649I|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1666I|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1677						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACTAGGAAGAGTAGGAGGCCG	0.478000													49	81					2.64514e-33	3.28694e-33	1	1	0
ZNF227	7770	broad.mit.edu	37	19	44739783	44739783	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:44739783G>C	ENST00000313040.7	+	6	1405	c.1200G>C	c.(1198-1200)agG>agC	p.R400S	ZNF227_ENST00000589005.1_Missense_Mutation_p.R349S|ZNF227_ENST00000391961.2_Missense_Mutation_p.R349S	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TTCACCAGAGGGTCCACAGGG	0.488000													12	51					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48882512	48882512	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:48882512G>C	ENST00000262105.2	+	10	1538	c.1329G>C	c.(1327-1329)gaG>gaC	p.E443D	MCM4_ENST00000523944.1_Missense_Mutation_p.E443D|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	443					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TTTTTTCAGAGAAACGTGTGG	0.403000													5	190					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2139988	2139988	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:2139988C>G	ENST00000262304.4	-	46	12860	c.12652G>C	c.(12652-12654)Gtg>Ctg	p.V4218L	PKD1_ENST00000423118.1_Missense_Mutation_p.V4217L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4218					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCTCGAACACGGCTTGGAGG	0.672000													4	19					0	0	1	0	0
PPP2CB	5516	broad.mit.edu	37	8	30657110	30657110	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:30657110G>C	ENST00000221138.4	-	2	714	c.264C>G	c.(262-264)gaC>gaG	p.D88E	PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	88					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	AATATCCTCTGTCTACATAGT	0.348000													11	149					0	0	1	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478336	106478336	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:106478336C>A	ENST00000390596.2	-	0	185																											AGAGACAGTGCAGGTGAGGGA	0.612000													12	89					6.31663e-08	6.89349e-08	1	1	0
KDM5B	10765	broad.mit.edu	37	1	202724560	202724560	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:202724560C>A	ENST00000367265.3	-	11	2541	c.1377G>T	c.(1375-1377)tgG>tgT	p.W459C	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.W495C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	459	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGTTCAAATTCCAGCCACTAT	0.378000													5	92					0.00307968	0.00318174	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107880477	107880477	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:107880477C>A	ENST00000379028.3	-	4	502	c.32G>T	c.(31-33)cGc>cTc	p.R11L	NRCAM_ENST00000379022.4_Missense_Mutation_p.R11L|NRCAM_ENST00000351718.4_Missense_Mutation_p.R11L|NRCAM_ENST00000425651.2_Missense_Mutation_p.R11L|NRCAM_ENST00000379024.4_Missense_Mutation_p.R11L|NRCAM_ENST00000413765.2_Missense_Mutation_p.R11L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	11					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGCAGATAAGCGCTTCTTTTT	0.408000													25	43					9.39395e-14	1.08462e-13	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96163590	96163590	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:96163590A>G	ENST00000453304.1	-	7	1446	c.1098T>C	c.(1096-1098)ctT>ctC	p.L366L	UNC5C_ENST00000506749.1_Silent_p.L366L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	366	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGCATGCAAAGCCCATCAG	0.498000													10	19					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060693	35060693	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:35060693G>C	ENST00000373913.3	+	3	1053	c.573G>C	c.(571-573)ggG>ggC	p.G191G	DLGAP4_ENST00000401952.2_Silent_p.G191G|DLGAP4_ENST00000339266.5_Silent_p.G191G|DLGAP4_ENST00000373907.2_Silent_p.G191G			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	191					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAAGGCTGGGGAGCCCAAAC	0.677000													4	52					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33591149	33591149	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:33591149C>G	ENST00000380099.3	+	1	579	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	191	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGTGGTCACCCTGTACCACTG	0.726000													3	12					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46800830	46800830	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:46800830G>C	ENST00000230588.4	+	11	1173	c.1164G>C	c.(1162-1164)tgG>tgC	p.W388C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	388	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.W388C(1)|p.W388*(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACCACAATTGGAAAATTGCCC	0.463000													10	93					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437943	179437943	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179437943T>C	ENST00000589042.1	-	326	73140	c.72916A>G	c.(72916-72918)Agt>Ggt	p.S24306G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21738G|TTN_ENST00000460472.2_Missense_Mutation_p.S15241G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15433G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15366G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22665G|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22665	Fibronectin type-III 76.						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)			CTTGGTGCACTAATTCCAGCA	0.413000													34	60					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15548116	15548116	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:15548116C>T	ENST00000357607.2	+	10	1093	c.905C>T	c.(904-906)tCc>tTc	p.S302F	BMX_ENST00000348343.6_Missense_Mutation_p.S302F|BMX_ENST00000342014.6_Missense_Mutation_p.S302F			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	302	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGTAACATCTCCAGATCACAA	0.353000													10	18					0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45017945	45017945	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:45017945C>G	ENST00000225567.4	+	7	639	c.608C>G	c.(607-609)gCa>gGa	p.A203G	RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron	NM_054022.2	NP_473363.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	0					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TGCCAGACAGCACACTTTGGA	0.557000											OREG0024493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	117					0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43032843	43032843	+	Translation_Start_Site	SNP	T	T	C	rs147001900	by1000genomes	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:43032843T>C	ENST00000396303.3	-	0	113				CYB5R3_ENST00000402438.1_De_novo_Start_OutOfFrame|CYB5R3_ENST00000352397.5_Missense_Mutation_p.M11V|CYB5R3_ENST00000361740.4_Missense_Mutation_p.M44V|CYB5R3_ENST00000407623.3_De_novo_Start_OutOfFrame|CYB5R3_ENST00000407332.1_De_novo_Start_OutOfFrame	NM_001171661.1|NM_007326.4	NP_001165132.1|NP_015565.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3						blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	AAGAGCACCATATGGCCCAAC	0.602000													11	24					0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43905554	43905554	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:43905554C>A	ENST00000302708.4	+	4	616	c.205C>A	c.(205-207)Cca>Aca	p.P69T	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Missense_Mutation_p.P69T	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	69					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	AGCTCCTGAGCCACGAGTGAT	0.423000								Direct reversal of damage					11	164					2.80697e-09	3.12516e-09	1	1	0
F2R	2149	broad.mit.edu	37	5	76028555	76028555	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:76028555C>G	ENST00000319211.4	+	2	770	c.505C>G	c.(505-507)Cag>Gag	p.Q169E		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	169					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CAGTGATTGGCAGTTTGGGTC	0.498000													82	168					0	0	1	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114200423	114200423	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:114200423C>G	ENST00000369405.3	-	5	973	c.550G>C	c.(550-552)Gac>Cac	p.D184H	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.D180H	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	184						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GCACTCATGTCGATCTTCACT	0.463000													19	81					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129156925	129156925	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:129156925C>G	ENST00000540052.1	+	5	3705	c.3661C>G	c.(3661-3663)Ctg>Gtg	p.L1221V	BCORL1_ENST00000218147.7_Missense_Mutation_p.L1221V|BCORL1_ENST00000359304.2_Missense_Mutation_p.L1221V|BCORL1_ENST00000303743.5_Missense_Mutation_p.L1221V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1221					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCTGTGGTTCTGAGCACCCG	0.483000													13	148					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984547	110984547	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:110984547C>G	ENST00000524391.1	-	3	1963	c.931G>C	c.(931-933)Gtc>Ctc	p.V311L	KCNV1_ENST00000297404.1_Missense_Mutation_p.V311L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	311						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AACACCTGGACAATGCGCCCC	0.527000													14	46					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68708314	68708314	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:68708314T>G	ENST00000283916.6	-	4	377	c.279A>C	c.(277-279)ttA>ttC	p.L93F	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	93	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTGATTTCTTAAATTTGATT	0.348000													12	19					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583099	7583099	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:7583099G>C	ENST00000379802.3	+	24	5945	c.5604G>C	c.(5602-5604)aaG>aaC	p.K1868N	DSP_ENST00000418664.2_Missense_Mutation_p.K1269N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1868	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAGTGGAAGACTCAATATT	0.448000													6	88					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49379131	49379131	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:49379131C>T	ENST00000200453.5	+	3	2195	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	642					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCCCTTCGTCCCCAGTCCAGA	0.677000													79	151					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42728008	42728008	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:42728008C>G	ENST00000287777.4	+	1	998	c.898C>G	c.(898-900)Cgt>Ggt	p.R300G		NM_152393.2	NP_689606.2			kelch-like family member 40																		GGAGGCCGAACGTATCCTTCC	0.572000													33	88					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45239101	45239101	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:45239101C>G	ENST00000279027.4	-	3	543	c.525G>C	c.(523-525)gaG>gaC	p.E175D	SLC13A3_ENST00000417157.2_Missense_Mutation_p.E128D|SLC13A3_ENST00000472148.1_Missense_Mutation_p.E128D|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E175D|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E128D|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E128D|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E128D|SLC13A3_ENST00000339636.3_Missense_Mutation_p.E175D|SLC13A3_ENST00000372121.1_Missense_Mutation_p.E175D	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	175						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TCTCTTCACTCTCCTGGCTGG	0.537000													4	248					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691032	30691032	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:30691032T>C	ENST00000215790.7	-	5	701	c.537A>G	c.(535-537)ctA>ctG	p.L179L	TBC1D10A_ENST00000403477.3_Silent_p.L186L|TBC1D10A_ENST00000403362.1_Silent_p.L91L|RP1-130H16.18_ENST00000447976.1_Silent_p.L53L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	179	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCACACGGAATAGGTCCTGCT	0.647000													26	40					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81259124	81259124	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:81259124G>C	ENST00000555265.1	-	14	1915	c.1540C>G	c.(1540-1542)Ctg>Gtg	p.L514V	CEP128_ENST00000281129.3_Missense_Mutation_p.L514V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	514						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGCCTGTCAGTTCATCAACA	0.378000													5	129					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164793736	164793736	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:164793736A>G	ENST00000264382.3	-	2	127	c.65T>C	c.(64-66)aTa>aCa	p.I22T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	22					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATAGCTATTATAGTAACTAT	0.308000										HNSCC(35;0.089)			21	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594422	179594422	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179594422C>A	ENST00000589042.1	-	63	18782	c.18558G>T	c.(18556-18558)acG>acT	p.T6186T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T4942T|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T5869T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5869	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T4942T(1)		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)			TGCAGCTCGCCGTGCCTGCGT	0.463000													57	96					2.91325e-39	3.64538e-39	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130411898	130411898	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:130411898C>T	ENST00000370904.1	-	19	3135	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	IGSF1_ENST00000370910.1_Missense_Mutation_p.R742H|IGSF1_ENST00000370903.3_Missense_Mutation_p.R756H|IGSF1_ENST00000361420.3_Missense_Mutation_p.R751H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	751	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTGTGAGTGCGGCAGCTGTA	0.512000													28	58					0	0	1	0	0
ETHE1	23474	broad.mit.edu	37	19	44012063	44012063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:44012063C>A	ENST00000600651.1	-	6	768	c.745G>T	c.(745-747)Gag>Tag	p.E249*	ETHE1_ENST00000292147.2_Intron			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	15						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				cctcctctctcagacccagaa	0.617000													4	14					0.00024832	0.000259164	1	1	0
NAA15	80155	broad.mit.edu	37	4	140262203	140262203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:140262203C>T	ENST00000296543.5	+	4	705	c.382C>T	c.(382-384)Cga>Tga	p.R128*	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.R128*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	128					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATTCAAATGCGAGATCTTGA	0.318000													14	41					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789965	248789965	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:248789965C>T	ENST00000330803.2	-	1	526	c.465G>A	c.(463-465)ctG>ctA	p.L155L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGAGTGAGCAGAAAGCCAT	0.522000													29	37					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25635088	25635088	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:25635088G>T	ENST00000330688.4	+	6	1302	c.881G>T	c.(880-882)gGa>gTa	p.G294V	RARB_ENST00000462272.1_Intron|RARB_ENST00000458646.1_Missense_Mutation_p.G182V|RARB_ENST00000404969.1_Missense_Mutation_p.G301V|RARB_ENST00000437042.2_Missense_Mutation_p.G182V	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	301	Ligand-binding.				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)	CACAATGCTGGATTTGGTCCT	0.473000													40	50					1.22674e-20	1.49081e-20	1	1	0
DDX17	10521	broad.mit.edu	37	22	38891843	38891843	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:38891843C>G	ENST00000396821.3	-	6	937	c.838G>C	c.(838-840)Gga>Cga	p.G280R	DDX17_ENST00000381633.3_Missense_Mutation_p.G201R|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	201	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GGAGCACCTCCATAAATACAA	0.418000													5	97					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38146196	38146196	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:38146196C>G	ENST00000317025.8	-	19	3827	c.3310G>C	c.(3310-3312)Gat>Cat	p.D1104H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D1104H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D1055H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1104	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGGTTTTCATCAGCTGGCTTG	0.502000			T	NUP98	AML								7	104					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371172	126371172	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:126371172A>C	ENST00000394329.3	+	9	9014	c.9001A>C	c.(9001-9003)Aag>Cag	p.K3001Q	FAT4_ENST00000335110.5_Missense_Mutation_p.K1299Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3001	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTGGTACGAAGTTAATCAG	0.313000													21	32					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392315	3392315	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:3392315C>T	ENST00000324266.5	+	2	1116	c.921C>T	c.(919-921)aaC>aaT	p.N307N	TRAPPC12_ENST00000382110.2_Silent_p.N307N	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	307							binding										ACCGGAGGAACGACGCCTGGC	0.677000													3	48					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687741	68687741	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:68687741A>T	ENST00000361320.4	+	2	1645	c.1067A>T	c.(1066-1068)aAg>aTg	p.K356M	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	356	LRRCT.					integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GATGCAGTGAAGAACTACAGC	0.473000													29	38					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100608882	100608882	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:100608882T>A	ENST00000308731.7	-	17	1889	c.1726A>T	c.(1726-1728)Agc>Tgc	p.S576C	BTK_ENST00000372880.1_Missense_Mutation_p.S400C	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	576	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCAGATTTGCTGCTGAACTTG	0.433000									Agammaglobulinemia, X-linked				48	84					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59061843	59061843	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:59061843G>C	ENST00000253024.5	+	17	2720	c.2431G>C	c.(2431-2433)Gag>Cag	p.E811Q	TRIM28_ENST00000341753.6_Missense_Mutation_p.E729Q	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	811					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGTGCTGGTGGAGCCCCCGCC	0.657000													5	50					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89082254	89082254	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:89082254C>A	ENST00000393525.3	+	0	478																											TTTTCAGTGTCTTCTCAGAAA	0.308000													15	30					2.32078e-09	2.58787e-09	1	1	0
SMURF2	64750	broad.mit.edu	37	17	62552006	62552006	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:62552006C>G	ENST00000262435.9	-	14	1729	c.1542G>C	c.(1540-1542)ggG>ggC	p.G514G		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	514	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TAATTGACTTCCCAAGCAATT	0.373000													7	54					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44424164	44424164	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:44424164T>C	ENST00000372343.3	+	10	2443	c.1781T>C	c.(1780-1782)cTg>cCg	p.L594P		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	594					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGCAGGCGCTGGGCTTCCTG	0.542000													28	88					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102265	168102265	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:168102265C>G	ENST00000409195.1	+	9	4452	c.4363C>G	c.(4363-4365)Cta>Gta	p.L1455V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1455V|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1233V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1280					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						ATCTACTTGGCTATTTGAAAC	0.338000													37	35					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30132910	30132910	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:30132910G>A	ENST00000331968.5	-	4	920	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	PRKD1_ENST00000415220.2_Missense_Mutation_p.L231F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	231					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATACCAGAAGGGGCTCATCA	0.532000													23	99					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49929227	49929227	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:49929227G>C	ENST00000296474.3	-	15	3343	c.3316C>G	c.(3316-3318)Cag>Gag	p.Q1106E	MST1R_ENST00000344206.4_Missense_Mutation_p.Q1057E	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1106	Protein kinase.				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)		ATTCGATTCTGGGCCTGGTCT	0.537000													10	185					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120439004	120439004	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:120439004G>T	ENST00000424086.1	+	2	1048	c.575G>T	c.(574-576)gGg>gTg	p.G192V	TMEM177_ENST00000401466.1_Missense_Mutation_p.G192V|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.G192V|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	192						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TACACCCTGGGGCTCCATGCA	0.627000													19	25					2.35188e-11	2.65559e-11	1	1	0
PIK3R5	23533	broad.mit.edu	37	17	8785008	8785008	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:8785008G>T	ENST00000447110.1	-	17	2445	c.2321C>A	c.(2320-2322)aCg>aAg	p.T774K	PIK3R5_ENST00000581552.1_Missense_Mutation_p.T774K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.T773K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	774					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAGGTTTAGCGTCAGGGCCTC	0.572000													7	13					0.0381472	0.0386322	1	1	0
ATMIN	23300	broad.mit.edu	37	16	81077118	81077118	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:81077118G>C	ENST00000566488.1	+	3	1510	c.547G>C	c.(547-549)Ggg>Cgg	p.G183R	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.G183R|ATMIN_ENST00000299575.4_Missense_Mutation_p.G339R			O43313	ATMIN_HUMAN	ATM interactor	339					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTCTGCCACAGGGGCTGTGCA	0.527000													7	74					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154724	9154724	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:9154724C>G	ENST00000382496.5	-	12	2022	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	453	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCCGCCTCTCAGGGAAGAGC	0.562000													6	193					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71729335	71729335	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:71729335C>A	ENST00000393695.3	-	12	1203	c.872G>T	c.(871-873)cGg>cTg	p.R291L	NUMA1_ENST00000358965.6_Missense_Mutation_p.R291L|NUMA1_ENST00000351960.6_Missense_Mutation_p.R291L|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	291					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCATGCAGCCGCATGGTAAG	0.577000			T	RARA	APL								23	45					7.87624e-14	9.13797e-14	1	1	0
OR52I2	143502	broad.mit.edu	37	11	4608714	4608714	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:4608714C>G	ENST00000312614.4	+	1	694	c.672C>G	c.(670-672)ccC>ccG	p.P224P		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCCGTGCCCAGCAGTCTCT	0.502000													44	132					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329604	33329604	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:33329604C>G	ENST00000374796.2	-	12	7026	c.4456G>C	c.(4456-4458)Gaa>Caa	p.E1486Q	NCOA6_ENST00000359003.2_Missense_Mutation_p.E1486Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1486					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GTTGGTGCTTCCCTCATAGCA	0.468000													12	80					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229567637	229567637	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:229567637G>C	ENST00000366684.3	-	6	923	c.821C>G	c.(820-822)gCg>gGg	p.A274G	ACTA1_ENST00000366683.2_Missense_Mutation_p.A186G	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	274			A -> E (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GTGAATGCCCGCCGACTCCAT	0.682000													14	112					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40627656	40627656	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:40627656G>C	ENST00000342449.3	-	19	2248	c.2170C>G	c.(2170-2172)Cca>Gca	p.P724A	BRWD1_ENST00000380800.3_Missense_Mutation_p.P724A|BRWD1_ENST00000333229.2_Missense_Mutation_p.P724A	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGACTGCGTGGAGCGTTTTGA	0.463000													14	50					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208795728	208795728	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:208795728C>A	ENST00000457206.1	-	5	2235	c.1808G>T	c.(1807-1809)cGg>cTg	p.R603L	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R603L|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.R603L			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	603					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGCCGCAGCCGCAGCACGGC	0.612000													49	86					9.52127e-25	1.17703e-24	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121651351	121651351	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:121651351C>G	ENST00000393386.2	+	12	2662	c.2251C>G	c.(2251-2253)Ccg>Gcg	p.P751A	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P751A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	751					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GACAACCCAACCGGTATACAA	0.478000													12	111					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154923955	154923955	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:154923955C>G	ENST00000368463.3	-	4	306	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	PBXIP1_ENST00000368460.3_Missense_Mutation_p.E79Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E50Q|PBXIP1_ENST00000542459.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	79					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCTTGACCTCAGTCTCCTCT	0.577000													6	128					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114131328	114131328	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:114131328G>C	ENST00000259335.4	-	47	5633	c.5634C>G	c.(5632-5634)aaC>aaG	p.N1878K	KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.N1700K	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGGTCTCCGCGTTTCGCGGCC	0.453000													6	68					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54212180	54212180	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:54212180G>A	ENST00000259782.4	+	6	860	c.764G>A	c.(763-765)cGa>cAa	p.R255Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	255					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCTGCTGACCGAATAGCAATT	0.398000													20	26					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56180125	56180125	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:56180125C>G	ENST00000450554.2	+	9	1871	c.912C>G	c.(910-912)ttC>ttG	p.F304L	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.F304L|U2AF2_ENST00000590551.1_Missense_Mutation_p.F140L|CTD-2537I9.12_ENST00000585940.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	304	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCTACGCCTTCTGTGAGTACG	0.622000													7	89					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266104	41266104	+	Missense_Mutation	SNP	G	G	A	rs28931589		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:41266104G>A	ENST00000349496.5	+	3	381	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34E|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27E	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTGGACTCTGGAATCCATTCT	0.488000	G34E(AGS_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				12	26					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149073729	149073729	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:149073729G>C	ENST00000355292.3	-	6	2775	c.2413C>G	c.(2413-2415)Cta>Gta	p.L805V	NR3C2_ENST00000511528.1_Missense_Mutation_p.L805V|NR3C2_ENST00000344721.4_Missense_Mutation_p.L801V|NR3C2_ENST00000512865.1_Missense_Mutation_p.L684V|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Missense_Mutation_p.L801V|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	801	Steroid-binding.		S -> P (in AD-PHA1).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TACTGGATTAGGGTAATTTGG	0.373000													4	46					0	0	1	0	0
STRADA	92335	broad.mit.edu	37	17	61787903	61787903	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:61787903G>C	ENST00000245865.5	-	7	564	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	STRADA_ENST00000582137.1_Missense_Mutation_p.Q148E|STRADA_ENST00000392950.4_Missense_Mutation_p.Q140E|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000375840.4_Missense_Mutation_p.Q119E|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.Q177E|STRADA_ENST00000579340.1_Missense_Mutation_p.Q119E|STRADA_ENST00000447001.3_Missense_Mutation_p.Q133E			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	177	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						AGCACCCCCTGCAGGATGTAA	0.512000													7	44					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955276	107955276	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:107955276C>G	ENST00000317357.5	+	6	1887	c.1228C>G	c.(1228-1230)Ccc>Gcc	p.P410A		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	410	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GATCCGCCCGCCCTTCATCCG	0.697000													30	152					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37545253	37545253	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:37545253G>C	ENST00000378616.3	+	1	242	c.39G>C	c.(37-39)ctG>ctC	p.L13L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	13					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CCGTGTTCCTGTTCGTGGCCG	0.692000													10	13					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5012344	5012344	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:5012344G>C	ENST00000250076.3	-	4	1156	c.502C>G	c.(502-504)Cca>Gca	p.P168A	ZNF232_ENST00000575898.1_Missense_Mutation_p.P168A|ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	141					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GCAGGGCCTGGGACCTGGAGG	0.537000													23	85					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33261401	33261401	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:33261401C>T	ENST00000497454.1	-	14	2079	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_3'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	528					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCGAGATGACCAATGTTGGCC	0.582000													26	49					0	0	1	0	0
CXCR3	2833	broad.mit.edu	37	X	70837232	70837232	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:70837232T>C	ENST00000373691.4	-	2	394	c.231A>G	c.(229-231)ggA>ggG	p.G77G	CXCR3_ENST00000373693.3_Silent_p.G30G	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	30					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TCTCGTTTTCTCCATAGTCAT	0.602000													13	33					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10861256	10861256	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:10861256T>C	ENST00000254488.2	+	2	429	c.363T>C	c.(361-363)tgT>tgC	p.C121C	SLC6A11_ENST00000454147.1_Silent_p.C121C	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	121					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCATTACGTGTTGGAGGAAAG	0.408000													39	53					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21299746	21299746	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:21299746G>C	ENST00000596143.1	+	5	601	c.276G>C	c.(274-276)gtG>gtC	p.V92V	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CCGCAAATGTGGTTGAGTGTA	0.343000													7	39					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98920189	98920189	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:98920189A>T	ENST00000477737.1	+	26	3649	c.3445A>T	c.(3445-3447)Att>Ttt	p.I1149F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1149										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGTGCACTTATTAAGATCAG	0.383000													17	22					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64084932	64084932	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:64084932G>C	ENST00000295902.6	-	8	2915	c.2330C>G	c.(2329-2331)aCc>aGc	p.T777S	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.T833S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	777						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGAGGAGCAGGTGGAACACCA	0.592000													3	42					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120012260	120012260	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:120012260G>C	ENST00000354888.5	+	5	1525	c.1020_splice	c.e5-1	p.V341_splice	STEAP3_ENST00000393110.2_Splice_Site_p.V351_splice|STEAP3_ENST00000393108.2_Splice_Site_p.V341_splice|STEAP3_ENST00000450943.2_Splice_Site_p.V341_splice|STEAP3_ENST00000409811.1_Splice_Site_p.V341_splice|STEAP3_ENST00000393107.2_Splice_Site_p.V341_splice|STEAP3_ENST00000425223.2_Splice_Site_p.V341_splice|STEAP3_ENST00000393106.2_Splice_Site_p.V341_splice	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	341	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TCCATGTCAGGTCTTGGCCAA	0.597000													9	59					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101910915	101910915	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:101910915C>A	ENST00000251127.6	-	11	1226	c.1145G>T	c.(1144-1146)cGg>cTg	p.R382L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R382L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	382						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACGGATGACCGCATCATTTT	0.463000													14	34					1.52009e-12	1.73276e-12	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27101099	27101099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:27101099C>T	ENST00000324856.7	+	18	4752	c.4381C>T	c.(4381-4383)Cga>Tga	p.R1461*	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1078*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1461					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTTTGGCCGAGACCGTGT	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								32	15					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275901	113275901	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:113275901C>A	ENST00000297405.5	-	61	10073	c.9829G>T	c.(9829-9831)Ggt>Tgt	p.G3277C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3207C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3237C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3108C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3277	Sushi 25.					integral to membrane|plasma membrane		p.G3277S(1)|p.G3237S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCCAGGTACCATTCCCTACA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	47					0.014758	0.0150519	1	1	0
IFI44L	10964	broad.mit.edu	37	1	79093737	79093737	+	Missense_Mutation	SNP	G	G	A	rs149202070	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:79093737G>A	ENST00000370751.4	+	2	316	c.137G>A	c.(136-138)cGt>cAt	p.R46H	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	46						cytoplasm		p.R7H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGATGCAGCCGTCAGGGATGT	0.363000													24	44					0	0	1	0	0
MTFR2	113115	broad.mit.edu	37	6	136560841	136560841	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:136560841G>C	ENST00000420702.1	-	6	1021	c.632C>G	c.(631-633)cCt>cGt	p.P211R	MTFR2_ENST00000451457.2_Missense_Mutation_p.P211R	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		aagtggtggaggaggaggagg	0.512000													6	45					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2847887	2847887	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:2847887A>T	ENST00000254528.3	+	2	374	c.215A>T	c.(214-216)tAc>tTc	p.Y72F		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	72	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGGCTCAGTACAACTGTGCC	0.647000													21	36					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131543487	131543487	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:131543487C>G	ENST00000401867.1	-	9	1562	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	P4HA2_ENST00000379104.2_Missense_Mutation_p.E332Q|P4HA2_ENST00000360568.3_Missense_Mutation_p.E332Q|P4HA2_ENST00000379100.2_Missense_Mutation_p.E332Q|P4HA2_ENST00000166534.4_Missense_Mutation_p.E332Q|P4HA2_ENST00000379086.1_Missense_Mutation_p.E332Q			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	332						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGTCCCACTCGTCCTCCTCT	0.527000													24	146					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30884431	30884431	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:30884431C>G	ENST00000251071.5	-	6	1656	c.906G>C	c.(904-906)aaG>aaC	p.K302N	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.K302N|CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.K302N|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.K302N|CAPRIN2_ENST00000308433.5_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	302					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACAGTAGATCCTTCAAGTGTT	0.353000													19	34					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123779070	123779070	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:123779070G>A	ENST00000422452.2	-	10	1862	c.1799C>T	c.(1798-1800)aCa>aTa	p.T600I	TENM1_ENST00000371130.3_Missense_Mutation_p.T600I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCCAAAGCATGTTGGATCAAT	0.502000													110	180					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122848512	122848512	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:122848512C>G	ENST00000343035.2	-	3	595	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	183										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TCGGGGCTTTCTGGCCCGTCT	0.642000													11	42					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3129100	3129100	+	Silent	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:3129100A>T	ENST00000355072.5	+	12	1657	c.1512A>T	c.(1510-1512)acA>acT	p.T504T		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	504					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACAGCACACACTGCAGGCGG	0.562000													15	21					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476315	140476315	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140476315G>C	ENST00000194155.4	+	1	2089	c.1941G>C	c.(1939-1941)aaG>aaC	p.K647N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		647	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.716000													11	81					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86392937	86392937	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:86392937T>C	ENST00000285379.5	+	7	932	c.702T>C	c.(700-702)ggT>ggC	p.G234G		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	234					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ATGGGGAGGGTGAACCCGAAG	0.398000													48	40					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020659	5020659	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:5020659G>C	ENST00000382545.3	+	2	1222	c.115G>C	c.(115-117)Gtg>Ctg	p.V39L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	39					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGCGAGCGCGTGGTGATCAA	0.672000													11	55					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652399	1652399	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:1652399G>A	ENST00000252804.4	-	17	3203	c.3153C>T	c.(3151-3153)caC>caT	p.H1051H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1051					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTCGTAGCCGTGGTACTCTC	0.622000													4	24					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22267528	22267528	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:22267528C>G	ENST00000359741.5	+	4	702	c.527C>G	c.(526-528)cCc>cGc	p.P176R	SLC39A14_ENST00000381237.1_Intron|SLC39A14_ENST00000289952.5_Intron|SLC39A14_ENST00000240095.6_Intron	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	176						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTCGTCCTGCCCTGCACAGAG	0.547000													16	215					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994721	140994721	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:140994721C>A	ENST00000285879.4	+	4	1817	c.1531C>A	c.(1531-1533)Cag>Aag	p.Q511K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	511							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTCCCCAGTCTCCTCT	0.507000										HNSCC(15;0.026)			81	170					5.88917e-42	7.40796e-42	1	1	0
LCT	3938	broad.mit.edu	37	2	136566390	136566390	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:136566390C>G	ENST00000264162.2	-	8	3537	c.3527G>C	c.(3526-3528)aGt>aCt	p.S1176T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1176	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGCAGTTCACTCCTGTTCCC	0.552000													15	118					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33721123	33721123	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:33721123G>A	ENST00000358232.6	+	6	610	c.547G>A	c.(547-549)Gat>Aat	p.D183N	ELP2_ENST00000351393.6_Missense_Mutation_p.D157N|ELP2_ENST00000350494.6_Missense_Mutation_p.D222N|ELP2_ENST00000442325.2_Missense_Mutation_p.D248N|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000542824.1_Missense_Mutation_p.D157N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	183					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATGTGGCAATGATGATTGCAG	0.343000													17	33					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19479726	19479726	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:19479726G>A	ENST00000328405.2	+	8	1514	c.1248G>A	c.(1246-1248)tcG>tcA	p.S416S	KCNH8_ENST00000537696.1_Silent_p.S57S	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	416						integral to membrane	two-component sensor activity	p.S416S(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGGGCCCGTCGATCCGAAGTG	0.493000													26	164					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834856	61834856	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:61834856C>G	ENST00000370339.3	-	4	777	c.436G>C	c.(436-438)Gcg>Ccg	p.A146P	YTHDF1_ENST00000370333.4_Missense_Mutation_p.A96P|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	146										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTCCCATACGCGGAGCTCTGG	0.592000													12	54					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184792874	184792874	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:184792874G>C	ENST00000367511.3	-	7	913	c.720C>G	c.(718-720)atC>atG	p.I240M	FAM129A_ENST00000487074.1_Intron	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	240					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGTTACTCAGGATCTGCGCAG	0.542000													9	39					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91021017	91021017	+	Silent	SNP	C	C	A	rs138378081	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:91021017C>A	ENST00000268182.5	+	26	3349	c.3225C>A	c.(3223-3225)gtC>gtA	p.V1075V	IQGAP1_ENST00000560738.1_Silent_p.V503V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1075	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGGCCCCAGTCGTGAAGGAAA	0.443000													46	66					1.7489e-18	2.09693e-18	1	1	0
MORN5	254956	broad.mit.edu	37	9	124931984	124931984	+	Missense_Mutation	SNP	G	G	T	rs113084619	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:124931984G>T	ENST00000536616.1	+	3	294	c.256G>T	c.(256-258)Ggc>Tgc	p.G86C	MORN5_ENST00000486801.1_Intron|MORN5_ENST00000373764.3_Missense_Mutation_p.G86C			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	86										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTACTGCGACGGCTATGATCG	0.507000													37	75					3.21399e-22	3.9392e-22	1	1	0
SKOR2	652991	broad.mit.edu	37	18	44775084	44775084	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:44775084G>A	ENST00000425639.1	-	1	470	c.471C>T	c.(469-471)ggC>ggT	p.G157G	SKOR2_ENST00000400404.1_Silent_p.G157G	NM_001278063.1	NP_001264992.1	Q2VWA4	SKOR2_HUMAN	SKI family transcriptional corepressor 2	157					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.G157G(1)		endometrium(1)	1						GAATGAAGCTGCCGCGGCAGC	0.587000													5	6					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15492481	15492481	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:15492481G>T	ENST00000395906.3	-	12	2066	c.2067C>A	c.(2065-2067)atC>atA	p.I689I	CDRT1_ENST00000354433.3_Silent_p.I189I|CDRT1_ENST00000583965.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	689										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CACTTGGTTCGATTCCATTCC	0.507000													4	194					0.150653	0.151286	1	1	0
CXorf58	254158	broad.mit.edu	37	X	23945485	23945485	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:23945485C>G	ENST00000379211.3	+	6	1102	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	185										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AGATTATGTACAAGTAAGGAA	0.323000													27	54					0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118517333	118517333	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:118517333T>A	ENST00000359236.5	-	4	1019	c.743A>T	c.(742-744)gAt>gTt	p.D248V		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	248	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTATCCCCCATCCCAGCGACA	0.567000													45	66					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52394096	52394096	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:52394096G>C	ENST00000420323.2	+	27	4832		c.e27+1			NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACAGCTGAGGTGAGGACATG	0.562000													6	92					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40116420	40116420	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:40116420G>C	ENST00000373233.3	-	14	2063	c.1886C>G	c.(1885-1887)cCc>cGc	p.P629R	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	629	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTTCTGCAAGGGTGTTCCAGT	0.428000													7	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435320	179435320	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179435320C>G	ENST00000589042.1	-	326	75763	c.75539G>C	c.(75538-75540)gGa>gCa	p.G25180A	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G22612A|TTN_ENST00000460472.2_Missense_Mutation_p.G16115A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16307A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16240A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23539A|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23539	Fibronectin type-III 83.						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)			TATGTAATTTCCACTGTCGAC	0.443000													4	42					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139040246	139040246	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:139040246G>A	ENST00000370540.1	-	2	242	c.219C>T	c.(217-219)agC>agT	p.S73S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	73						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACGCATCATCGCTCAGACAAT	0.348000													147	214					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51430355	51430355	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:51430355C>G	ENST00000323686.4	+	1	1625	c.1525C>G	c.(1525-1527)Cat>Gat	p.H509D		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	509					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCCCTGTGCATTATGAGCT	0.617000													11	80					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156268970	156268970	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:156268970G>C	ENST00000311277.4	-	14	2172	c.1909C>G	c.(1909-1911)Cct>Gct	p.P637A	MAP9_ENST00000515654.1_Missense_Mutation_p.P613A|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000601977.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	637					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTGCTTGGAGGGCTCCACGGA	0.348000													4	23					0	0	1	0	0
ACTR6	64431	broad.mit.edu	37	12	100617626	100617626	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:100617626T>C	ENST00000188312.2	+	11	1889	c.1124T>C	c.(1123-1125)aTg>aCg	p.M375T	ACTR6_ENST00000546902.1_Missense_Mutation_p.M293T|ACTR6_ENST00000551617.1_Missense_Mutation_p.M273T|ACTR6_ENST00000552376.1_Missense_Mutation_p.M355T	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	375						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TTTGAAGATATGGTGGTAACA	0.333000													35	36					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93004037	93004037	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:93004037T>A	ENST00000523629.1	-	7	1275	c.821A>T	c.(820-822)cAg>cTg	p.Q274L	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Q274L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Q285L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Q247L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Q247L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	274					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTGTACCGCTGGCCTGGGCT	0.502000													26	63					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029195	68029195	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:68029195G>C	ENST00000329153.5	+	7	979	c.847G>C	c.(847-849)Ggt>Cgt	p.G283R		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	283						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGCTTCCTGGGGTGAGGGTCT	0.572000													6	31					0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360228	21360228	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:21360228G>C	ENST00000304639.3	+	2	441	c.383G>C	c.(382-384)aGa>aCa	p.R128T		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	128					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TATGCAGACAGACCAGGAAGG	0.473000													23	90					0	0	1	0	0
RRAGC	64121	broad.mit.edu	37	1	39322728	39322728	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:39322728G>C	ENST00000373001.3	-	2	440	c.264C>G	c.(262-264)aaC>aaG	p.N88K		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	88					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AGAGGGTCTCGTTGGGTGACA	0.348000													12	78					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321305	52321305	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:52321305C>G	ENST00000356297.4	-	17	2979	c.2879G>C	c.(2878-2880)cGg>cCg	p.R960P	PXDNL_ENST00000543296.1_Missense_Mutation_p.R960P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	960		Transition state stabilizer (By similarity).			hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCGTTGGCCCGGTGGTCCCC	0.662000													4	10					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4342975	4342975	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:4342975G>C	ENST00000355530.2	+	2	502	c.222G>C	c.(220-222)gaG>gaC	p.E74D	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	74					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						ATATACAGGAGGTTTTCCAGA	0.587000													4	9					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268648	22268648	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:22268648C>G	ENST00000263026.5	+	8	1317	c.843C>G	c.(841-843)ctC>ctG	p.L281L		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	281	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TTGGGGATCTCTACACTGACC	0.562000													9	125					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952898	33952898	+	RNA	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:33952898G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCCCTTCCAGGCGCCCACGCT	0.652000													4	4					0.150653	0.151286	1	1	0
JPH4	84502	broad.mit.edu	37	14	24040346	24040346	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:24040346G>A	ENST00000397118.3	-	6	2496	c.1594C>T	c.(1594-1596)Ctc>Ttc	p.L532F	JPH4_ENST00000544177.1_Missense_Mutation_p.L197F|JPH4_ENST00000356300.4_Missense_Mutation_p.L532F	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	532					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGCCTCCGAGGAGTGGGGAA	0.672000													137	185					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692245	31692245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:31692245C>A	ENST00000360542.3	-	1	362	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	37						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGACATCTCCACAGCTCACG	0.567000													49	78					5.2432e-18	6.27609e-18	1	1	0
CCNY	219771	broad.mit.edu	37	10	35855003	35855003	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:35855003C>G	ENST00000374704.4	+	9	979	c.799C>G	c.(799-801)Cct>Gct	p.P267A	CCNY_ENST00000265375.9_Missense_Mutation_p.P213A|CCNY_ENST00000339497.5_Missense_Mutation_p.P242A|CCNY_ENST00000374706.1_Missense_Mutation_p.P213A	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	267					cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CATCAATGTTCCTTCCAGTGT	0.483000													4	137					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95072637	95072637	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:95072637G>C	ENST00000379982.3	+	3	781	c.273G>C	c.(271-273)ggG>ggC	p.G91G		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	91	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATCTAATTGGGGGCGCTGACA	0.333000													10	59					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125622334	125622334	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:125622334C>G	ENST00000373670.1	-	10	2311	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q	RC3H2_ENST00000423239.2_Missense_Mutation_p.E571Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.E571Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	571						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAATTCAGCTCTGTTCCAACA	0.423000													14	271					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115350190	115350190	+	Missense_Mutation	SNP	C	C	T	rs144970249	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:115350190C>T	ENST00000357872.4	+	16	2540	c.2416C>T	c.(2416-2418)Ctt>Ttt	p.L806F	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		806					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GTCAAAAGAACTTTTCGCAAA	0.363000													21	41					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31335616	31335616	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:31335616G>C	ENST00000215862.4	-	13	2242	c.879C>G	c.(877-879)gcC>gcG	p.A293A	MORC2_ENST00000397641.2_Silent_p.A355A|MORC2_ENST00000469915.1_Intron	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	355							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ACCGCTGCTTGGCCTCCTTGA	0.498000													3	32					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35297614	35297614	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:35297614C>G	ENST00000254457.5	+	2	1609	c.198C>G	c.(196-198)tgC>tgG	p.C66W	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	66	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCGCAGGCTGCGCTCAGGGCA	0.647000													6	7					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128347	30128347	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:30128347C>T	ENST00000449742.2	-	1	364	c.289G>A	c.(289-291)Gat>Aat	p.D97N	TRIM10_ENST00000376704.3_Missense_Mutation_p.D97N	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	97						cytoplasm	zinc ion binding			ovary(1)	1						TGGCAGACATCCTCCTCTCCC	0.592000													55	78					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907813	3907813	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:3907813G>T	ENST00000450849.2	+	5	907	c.440G>T	c.(439-441)aGc>aTc	p.S147I	ATCAY_ENST00000301260.6_Missense_Mutation_p.S147I|ATCAY_ENST00000600960.1_Missense_Mutation_p.S147I|ATCAY_ENST00000398448.3_Missense_Mutation_p.S153I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	147					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGACGGCAGCGCCGCCAAC	0.642000													29	47					1.13719e-10	1.276e-10	1	1	0
CDC42EP1	11135	broad.mit.edu	37	22	37962592	37962592	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:37962592G>T	ENST00000249014.4	+	2	656	c.236G>T	c.(235-237)cGc>cTc	p.R79L		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	79					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTCACCCCGCAGCTTCCTG	0.706000													16	34					4.14922e-12	4.7222e-12	1	1	0
FAM20A	54757	broad.mit.edu	37	17	66551869	66551869	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:66551869G>C	ENST00000592554.1	-	2	1142	c.420C>G	c.(418-420)taC>taG	p.Y140*	FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	140						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TCTGCTCTCTGTACATCTTGT	0.512000													6	48					0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91558412	91558412	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:91558412A>G	ENST00000052754.5	-	3	795	c.294T>C	c.(292-294)gaT>gaC	p.D98D	DCN_ENST00000420120.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000441303.2_Silent_p.D98D|DCN_ENST00000228329.5_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Silent_p.D98D|DCN_ENST00000547568.2_Intron|DCN_ENST00000393155.1_Silent_p.D98D|DCN_ENST00000552962.1_Silent_p.D98D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	98					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TAAAGTCTCCATCTTTGATTT	0.363000													12	25					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38135260	38135260	+	Splice_Site	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:38135260T>A	ENST00000308059.6	+	12	1940		c.e12+2		DLEC1_ENST00000452631.2_Splice_Site|DLEC1_ENST00000346219.3_Splice_Site			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1						negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAATGCTACGTGGGTAACCCC	0.532000													38	53					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding	p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													4	215					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43414865	43414865	+	Silent	SNP	C	C	T	rs1058688		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:43414865C>T	ENST00000187910.2	-	3	638	c.573G>A	c.(571-573)agG>agA	p.R191R	PSG6_ENST00000292125.2_Silent_p.R191R|PSG6_ENST00000402603.4_Silent_p.R191R	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6									p.R191S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACAGCTGCAACCTGTGAGTCA	0.498000													71	89					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133971304	133971304	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:133971304G>T	ENST00000409261.1	-	5	564	c.191C>A	c.(190-192)aCa>aAa	p.T64K	NCKAP5_ENST00000317721.6_Missense_Mutation_p.T64K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.T64K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.T64K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	64							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCCCTCACTTGTTCTTTGGGC	0.488000													12	20					0.0167234	0.0170322	1	1	0
SLC18A1	6570	broad.mit.edu	37	8	20004850	20004850	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:20004850C>G	ENST00000440926.1	-	16	1853	c.1383G>C	c.(1381-1383)atG>atC	p.M461I	SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Missense_Mutation_p.M429I|SLC18A1_ENST00000276373.5_Missense_Mutation_p.M461I|SLC18A1_ENST00000265808.7_Missense_Mutation_p.M429I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	461					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CAGTGATGACCATGAGCCAGG	0.532000													6	58					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197118	32197118	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:32197118G>C	ENST00000375250.5	-	3	907	c.666C>G	c.(664-666)agC>agG	p.S222R	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S222R|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S222R|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.S222R|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S222R	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	222					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTTCAGTGGAGCTGCTGCTAA	0.363000													10	37					0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	670789	670789	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:670789C>G	ENST00000323274.10	+	5	793	c.654C>G	c.(652-654)gaC>gaG	p.D218E	TYMS_ENST00000323224.7_Missense_Mutation_p.D184E|TYMS_ENST00000323250.5_Missense_Mutation_p.D135E|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	218					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	GATCGGGAGACATGGGCCTCG	0.592000													6	152					0	0	1	0	0
TMEM126A	84233	broad.mit.edu	37	11	85366750	85366750	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:85366750C>G	ENST00000304511.2	+	4	502	c.393C>G	c.(391-393)gcC>gcG	p.A131A	TMEM126A_ENST00000528105.1_Silent_p.A61A|TMEM126A_ENST00000532180.1_Silent_p.A61A	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	131						integral to membrane|mitochondrion				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTCTAGCAGCCAGGTAGGAAA	0.363000													15	57					0	0	1	0	0
MRPL24	79590	broad.mit.edu	37	1	156708153	156708153	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:156708153G>A	ENST00000368211.4	-	3	399	c.261C>T	c.(259-261)gtC>gtT	p.V87V	MRPL24_ENST00000361531.2_Silent_p.V87V	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	87	KOW.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCTCCCACGACCACCCAGT	0.562000													5	325					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611047	37611047	+	Splice_Site	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:37611047G>T	ENST00000276461.5	+	11	886	c.819_splice	c.e11+1	p.K273_splice	ERLIN2_ENST00000519638.1_Splice_Site_p.K273_splice	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	273	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AAGCCAATAAGGTAAAGACCC	0.532000													26	15					3.65163e-15	4.27813e-15	1	1	0
SERINC3	10955	broad.mit.edu	37	20	43132505	43132505	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:43132505C>G	ENST00000342374.4	-	8	1163	c.1006G>C	c.(1006-1008)Gat>Cat	p.D336H	SERINC3_ENST00000255175.1_Missense_Mutation_p.D336H|SERINC3_ENST00000541235.1_Missense_Mutation_p.D281H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	336						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATAAAATTATCTGAATCCAGT	0.403000													7	96					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61458596	61458596	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:61458596G>C	ENST00000343916.3	+	16	799	c.796G>C	c.(796-798)Gac>Cac	p.D266H		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	266	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TTTCCAGGGTGACCGAGGCGA	0.642000													10	40					0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66108730	66108730	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:66108730G>C	ENST00000359957.3	-	4	465	c.305C>G	c.(304-306)aCg>aGg	p.T102R	BRMS1_ENST00000425825.2_Missense_Mutation_p.T102R	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	102					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						AAGGGGCTCCGTGTATTCAGG	0.617000													7	50					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113533182	113533182	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:113533182G>A	ENST00000257600.3	+	8	2104	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	534					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.R534H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGATTCCCTCGCCACTGCTAT	0.612000													30	46					0	0	1	0	0
FAM134C	162427	broad.mit.edu	37	17	40735595	40735595	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:40735595C>G	ENST00000309428.5	-	7	790	c.731G>C	c.(730-732)cGc>cCc	p.R244P	FAM134C_ENST00000543197.1_Missense_Mutation_p.R49P|FAM134C_ENST00000585894.1_Missense_Mutation_p.R147P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	244						integral to membrane		p.R244H(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		AGCTCTGCGGCGTACTGTGGG	0.498000													3	41					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99661734	99661734	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:99661734G>A	ENST00000292450.4	+	4	1080	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Silent_p.T271T|ZSCAN21_ENST00000543588.1_Silent_p.T271T|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	306					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V306M(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAAACCTTACGTGTGCACCAA	0.478000													23	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441374	179441374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179441374G>T	ENST00000589042.1	-	325	69821	c.69597C>A	c.(69595-69597)tgC>tgA	p.C23199*	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.C20631*|TTN_ENST00000460472.2_Nonsense_Mutation_p.C14134*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.C14326*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.C14259*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.C21558*|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21558	Fibronectin type-III 68.						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)			CTGTTACTTTGCACCTGAGAT	0.463000													94	167					1.45819e-31	1.80887e-31	1	1	0
OMD	4958	broad.mit.edu	37	9	95179154	95179154	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:95179154A>G	ENST00000375550.4	-	2	962	c.687T>C	c.(685-687)ccT>ccC	p.P229P	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	229					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						AAGGCAAACCAGGAGGCATTG	0.333000			T	USP6	aneurysmal bone cysts								52	70					0	0	1	0	0
TAX1BP3	30851	broad.mit.edu	37	17	3568025	3568025	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:3568025C>G	ENST00000225525.3	-	2	262	c.107G>C	c.(106-108)gGa>gCa	p.G36A	RP11-48B14.2_ENST00000550383.1_3'UTR	NM_014604.3	NP_055419.1	O14907	TX1B3_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 3	36	PDZ.				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding			endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		CTGGTCGATTCCACCTCCAAT	0.532000													4	88					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57760127	57760127	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:57760127C>G	ENST00000360716.3	+	14	2127	c.1906C>G	c.(1906-1908)Cgg>Ggg	p.R636G	CCDC135_ENST00000336825.8_Missense_Mutation_p.R571G|CCDC135_ENST00000394337.4_Missense_Mutation_p.R636G			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	636						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGAGTTCCTGCGGCGCACCGA	0.662000													5	105					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229119	38229119	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:38229119C>T	ENST00000558158.1	+	4	366	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMCO5A_ENST00000540944.1_Missense_Mutation_p.T71M|TMCO5A_ENST00000559502.1_Missense_Mutation_p.T71M|TMCO5A_ENST00000319669.4_Missense_Mutation_p.T71M			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	71						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AACCGCACCACGATGGAAAGG	0.507000													10	17					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108913365	108913365	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:108913365G>T	ENST00000276659.5	-	6	1290	c.670C>A	c.(670-672)Ctg>Atg	p.L224M	RSPO2_ENST00000517939.1_Missense_Mutation_p.L157M|RSPO2_ENST00000378439.2_Missense_Mutation_p.L160M|RSPO2_ENST00000517781.1_Missense_Mutation_p.L160M	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	224					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTTTCTATCAGcttccttttc	0.423000													15	58					1.3612e-06	1.46544e-06	1	1	0
TCF20	6942	broad.mit.edu	37	22	42606258	42606258	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:42606258G>A	ENST00000359486.3	-	1	5190	c.5054C>T	c.(5053-5055)tCg>tTg	p.S1685L	TCF20_ENST00000335626.4_Missense_Mutation_p.S1685L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CATAAAGGACGAGGCCGGGAG	0.567000													24	100					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694095	129694095	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:129694095C>G	ENST00000422113.2	-	5	1739	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	471						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACGATCTACACTCCACAGACT	0.577000													3	30					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58258804	58258804	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:58258804C>G	ENST00000300896.4	-	32	4623	c.4429G>C	c.(4429-4431)Gaa>Caa	p.E1477Q	USP32_ENST00000592339.1_Missense_Mutation_p.E1147Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1477					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCACATGCTTCATGCTCATAA	0.498000													9	93					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29663905	29663905	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:29663905T>C	ENST00000358273.4	+	42	6783	c.6400T>C	c.(6400-6402)Tgt>Cgt	p.C2134R	NF1_ENST00000356175.3_Missense_Mutation_p.C2113R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2134					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCACTCTCTGTGTACTTGTTC	0.403000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			24	21					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24009502	24009502	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:24009502C>G	ENST00000312521.4	+	7	1850	c.1531C>G	c.(1531-1533)Ctg>Gtg	p.L511V	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	511					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AGCTGTTGTCCTGGTATCTGC	0.443000													4	47					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99912603	99912603	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:99912603C>G	ENST00000327681.6	-	13	1717	c.1185G>C	c.(1183-1185)tgG>tgC	p.W395C	USP45_ENST00000392738.2_Missense_Mutation_p.W75C|USP45_ENST00000500704.2_Missense_Mutation_p.W395C|USP45_ENST00000369233.2_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	395					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCATTCTTCCCCAAAGTAAAG	0.338000													7	31					0	0	1	0	0
S100A7A	338324	broad.mit.edu	37	1	153391773	153391773	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:153391773G>A	ENST00000368729.4	+	3	351	c.294G>A	c.(292-294)ggG>ggA	p.G98G	S100A7A_ENST00000329256.2_Silent_p.G98G|S100A7A_ENST00000368728.2_Silent_p.G98G	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	98						cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGTTCTGGGGGAAGCCAGT	0.527000													20	41					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32821508	32821508	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:32821508C>T	ENST00000380250.3	+	48	7373	c.6877C>T	c.(6877-6879)Cgg>Tgg	p.R2293W		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGTAGTTTCTCGGTCAGCCAG	0.388000													46	55					0	0	1	0	0
TMEM189	387521	broad.mit.edu	37	20	48744575	48744575	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:48744575G>C	ENST00000557021.1	-	5	788	c.628C>G	c.(628-630)Cca>Gca	p.P210A	TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.P210A|TMEM189_ENST00000371650.5_Missense_Mutation_p.P207A|TMEM189_ENST00000371652.4_Missense_Mutation_p.P210A|TMEM189_ENST00000371656.2_Missense_Mutation_p.P135A	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TGTTTACGTGGCAGGATGACA	0.597000													6	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441372	179441372	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179441372T>C	ENST00000589042.1	-	325	69823	c.69599A>G	c.(69598-69600)aAa>aGa	p.K23200R	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20632R|TTN_ENST00000460472.2_Missense_Mutation_p.K14135R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14327R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14260R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21559R|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21559	Fibronectin type-III 68.						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)			TCCTGTTACTTTGCACCTGAG	0.468000													91	165					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171755	4171755	+	Nonsense_Mutation	SNP	G	G	T	rs145017010	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:4171755G>T	ENST00000252587.3	+	7	984	c.841G>T	c.(841-843)Gag>Tag	p.E281*	CREB3L3_ENST00000595923.1_Missense_Mutation_p.R391L|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000602257.1_Missense_Mutation_p.R390L|CREB3L3_ENST00000078445.2_Missense_Mutation_p.R392L			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	119	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GACACAACCCGAGAAGAGTCT	0.647000													18	129					8.34094e-07	8.99316e-07	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1926596	1926596	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:1926596C>G	ENST00000399161.2	-	10	1692	c.945G>C	c.(943-945)gtG>gtC	p.V315V	MYT1L_ENST00000428368.2_Silent_p.V315V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	315					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGCTCTCCTCCACCATCTTTT	0.502000													6	104					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49397732	49397732	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:49397732T>A	ENST00000418115.1	-	5	876	c.492A>T	c.(490-492)aaA>aaT	p.K164N	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	164					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TCACTCCATCTTTGGTCTTTG	0.463000													56	71					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527066	132527066	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:132527066C>G	ENST00000331898.7	-	2	894	c.316G>C	c.(316-318)Gat>Cat	p.D106H	OPCML_ENST00000374778.4_Missense_Mutation_p.D65H|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.D106H|OPCML_ENST00000524381.1_Missense_Mutation_p.D99H	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	106	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCATACACATCCACATTTTGG	0.502000													15	44					0	0	1	0	0
TRAV35	28647	broad.mit.edu	37	14	22690118	22690118	+	RNA	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:22690118C>T	ENST00000390462.1	+	0	77																											AATCAGAGTCCTCAATCTATG	0.428000													18	39					0	0	1	0	0
ACADVL	37	broad.mit.edu	37	17	7125377	7125377	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:7125377C>G	ENST00000356839.5	+	8	908	c.729C>G	c.(727-729)ctC>ctG	p.L243L	ACADVL_ENST00000543245.2_Silent_p.L266L|ACADVL_ENST00000350303.5_Silent_p.L221L	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	243	Catalytic.		L -> R (in ACADVLD).		energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						ACTATACCCTCAATGGAAGCA	0.592000													6	89					0	0	1	0	0
HMGN5	79366	broad.mit.edu	37	X	80374256	80374256	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:80374256T>C	ENST00000358130.2	-	4	376	c.48A>G	c.(46-48)ccA>ccG	p.P16P	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	16					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						ATCTTCTCTTTGGCTATAAGT	0.289000													6	14					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40629736	40629736	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:40629736G>C	ENST00000343619.4	+	6	605	c.482G>C	c.(481-483)gGa>gCa	p.G161A	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G161A|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G168A|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G118A|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G161A|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G118A	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	161					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGTGAGATGGGAAGAGGCACT	0.468000													4	36					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7663650	7663650	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:7663650C>G	ENST00000299492.4	+	17	2027	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.Q404E|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.Q389E|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.Q435E	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	547					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTCCAAGGGACAGAAAAGGTA	0.512000													6	28					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903556	6903556	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:6903556G>A	ENST00000486284.1	+	1	755	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	GRM7_ENST00000389336.4_Missense_Mutation_p.V161I|GRM7_ENST00000403881.1_Missense_Mutation_p.V161I|GRM7_ENST00000357716.4_Missense_Mutation_p.V161I|GRM7_ENST00000402647.2_Missense_Mutation_p.V161I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	161					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGGAGTTCGGTCTCCATCAT	0.602000													23	33					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4797387	4797387	+	Splice_Site	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:4797387G>A	ENST00000355280.6	+	22	2865	c.2670_splice	c.e22+1	p.R890_splice	MINK1_ENST00000347992.7_Splice_Site_p.R861_splice|MINK1_ENST00000453408.3_Splice_Site_p.R870_splice	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	890	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GTGGTCCAGCGCGTGAGTGAG	0.657000													17	25					0	0	1	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083482	107083482	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:107083482C>A	ENST00000455737.1	-	0	161																											AGAGACAGTGCAGGTGAGGGA	0.592000													4	67					0.014758	0.0150519	1	1	0
MED13	9969	broad.mit.edu	37	17	60107010	60107010	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:60107010C>G	ENST00000397786.2	-	8	1251	c.1175G>C	c.(1174-1176)aGg>aCg	p.R392T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	392				R -> K (in Ref. 1; AAD22032).	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAATACTTCCTCCTAAGATT	0.333000													3	29					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762548	140762548	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140762548G>C	ENST00000518325.1	+	1	82	c.82G>C	c.(82-84)Gca>Cca	p.A28P	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCTGGGCAGGACGTAT	0.637000													22	108					0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118517331	118517331	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:118517331C>A	ENST00000359236.5	-	4	1021	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	249	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGGTATCCCCCATCCCAGCGA	0.562000													43	68					1.47197e-15	1.73301e-15	1	1	0
SLTM	79811	broad.mit.edu	37	15	59181678	59181678	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:59181678C>G	ENST00000380516.2	-	16	2242	c.2155G>C	c.(2155-2157)Gaa>Caa	p.E719Q	SLTM_ENST00000536328.1_Missense_Mutation_p.E288Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	719	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTTCTTGTTCATAACGAAGC	0.408000													15	48					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50213567	50213567	+	RNA	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:50213567C>T	ENST00000376025.2	-	0	170							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					gcggcggagccggtggtggtg	0.721000													7	31					0	0	1	0	0
OPN1MW2	728458	broad.mit.edu	37	X	153496083	153496083	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:153496083G>C	ENST00000369929.4	+	5	871	c.811G>C	c.(811-813)Gtg>Ctg	p.V271L	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCATGGTGGTGGTGATGGT	0.577000													4	236					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83016326	83016326	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:83016326G>T	ENST00000307792.3	-	15	2175	c.1708C>A	c.(1708-1710)Cag>Aag	p.Q570K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.Q510K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	570					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAGCACTGCTGAGCTGCATTT	0.353000													10	17					7.03913e-09	7.82489e-09	1	1	0
PES1	23481	broad.mit.edu	37	22	30975190	30975190	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:30975190C>G	ENST00000402281.1	-	15	2029	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	PES1_ENST00000405677.1_Missense_Mutation_p.E346D|PES1_ENST00000402284.3_Missense_Mutation_p.E468D|PES1_ENST00000354694.6_Missense_Mutation_p.E485D|PES1_ENST00000335214.6_Missense_Mutation_p.E480D			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	485	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ctgaaccagcctctgcatctt	0.572000													7	16					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256897	63256897	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:63256897C>T	ENST00000323865.3	-	1	883	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	217					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCGGAATATGCGCCCATAGAG	0.587000													5	206					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153640104	153640104	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:153640104G>C	ENST00000361891.4	-	6	446	c.321C>G	c.(319-321)tcC>tcG	p.S107S	ILF2_ENST00000368681.1_Silent_p.S107S	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	107	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTTTTATAGGATCCCACCT	0.453000													29	218					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	633040	633040	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:633040G>C	ENST00000230449.4	-	3	331	c.196C>G	c.(196-198)Caa>Gaa	p.Q66E	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	66	IPT/TIG.				exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTTTGGCTTGTCCCACTCGA	0.428000													13	59					0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52867391	52867391	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:52867391C>T	ENST00000504329.1	-	10	1179	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	MUSTN1_ENST00000486659.1_Silent_p.E71E|MUSTN1_ENST00000446157.2_Silent_p.E66E	NM_001198974.2	NP_001185903.2																					CAAAGACAGTCTCGGTACCTG	0.632000													16	37					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41939211	41939211	+	Missense_Mutation	SNP	G	G	T	rs144363642	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:41939211G>T	ENST00000317310.4	+	7	972	c.931G>T	c.(931-933)Gtg>Ttg	p.V311L		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	311						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGAGGGGGACGTGATCTCGAT	0.612000													6	9					0.0215528	0.0218886	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11738100	11738100	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:11738100A>T	ENST00000262442.3	+	49	9460	c.9392A>T	c.(9391-9393)aAg>aTg	p.K3131M	DNAH9_ENST00000454412.2_Missense_Mutation_p.K3131M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3131	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGAGCAGAAGGTGGCCGTC	0.527000													13	17					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291390	22291390	+	Silent	SNP	G	G	C	rs148712606		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:22291390G>C	ENST00000323684.1	+	1	326	c.282G>C	c.(280-282)ccG>ccC	p.P94P		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	94						intracellular	zinc ion binding	p.P94P(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AAGTATGTCCGCGCTGTCGTT	0.403000													12	91					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67047151	67047151	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:67047151G>C	ENST00000308595.5	+	5	711	c.421G>C	c.(421-423)Gtg>Ctg	p.V141L	ADRBK1_ENST00000526285.1_Missense_Mutation_p.V141L	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	141	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAGAAGCAGGTGCCTCCGGA	0.622000													3	46					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17524557	17524557	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:17524557C>G	ENST00000511148.2	+	2	426	c.324C>G	c.(322-324)gcC>gcG	p.A108A		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	108						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCTTCCTGGCCTTGGCCCTGG	0.567000													9	100					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921554	24921554	+	Silent	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:24921554T>A	ENST00000329468.2	+	1	1014	c.540T>A	c.(538-540)ctT>ctA	p.L180L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGACCCCCCTTAGCAGCGGAG	0.607000													18	32					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520163	84520163	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:84520163G>T	ENST00000360700.4	+	6	1704	c.818G>T	c.(817-819)gGa>gTa	p.G273V	ZNF711_ENST00000276123.3_Missense_Mutation_p.G273V|ZNF711_ENST00000373165.3_Missense_Mutation_p.G273V|ZNF711_ENST00000542798.1_Missense_Mutation_p.G69V|ZNF711_ENST00000395402.1_Missense_Mutation_p.G251V			Q9Y462	ZN711_HUMAN	zinc finger protein 711	273					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TACACCAGTGGACATTCAGTA	0.388000													24	36					4.16121e-05	4.38763e-05	1	1	0
SNX12	29934	broad.mit.edu	37	X	70281697	70281697	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:70281697T>C	ENST00000374274.3	-	3	498	c.382A>G	c.(382-384)Aac>Gac	p.N128D	SNX12_ENST00000465030.1_Intron|SNX12_ENST00000276105.3_Missense_Mutation_p.N124D	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	128	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GCTTACTTGTTAATAAACTGC	0.438000													17	22					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12956984	12956984	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:12956984C>A	ENST00000276297.4	-	9	3271	c.2862G>T	c.(2860-2862)gtG>gtT	p.V954V	DLC1_ENST00000512044.2_Silent_p.V551V|DLC1_ENST00000520226.1_Silent_p.V443V|DLC1_ENST00000358919.2_Silent_p.V517V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	954					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGTCGTTGTCCACATCCAGGT	0.572000													14	85					6.31663e-08	6.89349e-08	1	1	0
LATS2	26524	broad.mit.edu	37	13	21562921	21562921	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:21562921G>C	ENST00000382592.4	-	4	1403	c.998C>G	c.(997-999)tCc>tGc	p.S333C	LATS2_ENST00000542899.1_Missense_Mutation_p.S333C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	333					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTGGCTGCGGGAGCCCAGCAC	0.701000													3	62					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5791144	5791144	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:5791144G>C	ENST00000328090.5	+	15	6385	c.5760G>C	c.(5758-5760)ggG>ggC	p.G1920G		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1920																	ATCTCCACGGGATCCTCAGGA	0.527000													5	31					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7401407	7401407	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:7401407C>G	ENST00000322644.6	+	8	1612	c.1213C>G	c.(1213-1215)Cta>Gta	p.L405V	POLR2A_ENST00000572844.1_Missense_Mutation_p.L405V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	405					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACTTCAAGAACTAGTGCGCAG	0.512000													6	83					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272374	1272374	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:1272374C>G	ENST00000447027.1	+	31	14331	c.14273C>G	c.(14272-14274)tCc>tGc	p.S4758C	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4755C			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4755	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCATCCCCTCCTCCACCCTG	0.577000													28	92					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50235319	50235319	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:50235319C>G	ENST00000338821.5	-	21	2496	c.2232G>C	c.(2230-2232)gaG>gaC	p.E744D	ATP9A_ENST00000402822.1_Missense_Mutation_p.E623D|ATP9A_ENST00000311637.5_Missense_Mutation_p.E608D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	744					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTCCATGAACTCGTACTCAT	0.647000													10	49					0	0	1	0	0
MAMSTR	284358	broad.mit.edu	37	19	49217150	49217150	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:49217150C>G	ENST00000318083.6	-	8	939	c.876G>C	c.(874-876)gaG>gaC	p.E292D	MAMSTR_ENST00000419611.1_Missense_Mutation_p.E189D|MAMSTR_ENST00000356751.4_Missense_Mutation_p.E189D|MAMSTR_ENST00000594582.1_Missense_Mutation_p.E124D|MAMSTR_ENST00000377367.3_Missense_Mutation_p.E124D			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	292	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						GCAGCTCCTCCTCCAGAGTCA	0.672000													10	103					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592025	6592025	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6592025C>G	ENST00000254579.6	+	42	13847	c.13283C>G	c.(13282-13284)tCt>tGt	p.S4428C	DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTTCCTGAGTCTCGAAGAGGC	0.632000													4	16					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7571410	7571410	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:7571410C>A	ENST00000399429.3	-	3	390	c.250G>T	c.(250-252)Ggt>Tgt	p.G84C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	84	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AAGGAGCGACCAGGAGTCAAT	0.428000													26	40					1.74197e-06	1.86696e-06	1	1	0
NXPH1	30010	broad.mit.edu	37	7	8791094	8791094	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:8791094A>T	ENST00000405863.1	+	3	1422	c.511A>T	c.(511-513)Aca>Tca	p.T171S	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.T54S	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	171	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGTACCCCCTACAAAAATCGT	0.393000													14	26					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45444587	45444587	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:45444587C>G	ENST00000321429.4	+	26	3704	c.3297C>G	c.(3295-3297)taC>taG	p.Y1099*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1099*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y745*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1099	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGTTCTCCTACATCTTGCTCA	0.592000													15	54					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099276	46099276	+	Silent	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:46099276T>A	ENST00000295452.4	-	2	362	c.195A>T	c.(193-195)acA>acT	p.T65T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	65					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCAGAATTTGTGTGATATCTC	0.368000													32	79					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160806213	160806213	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:160806213G>C	ENST00000283243.7	-	25	3821	c.3615C>G	c.(3613-3615)ctC>ctG	p.L1205L	PLA2R1_ENST00000392771.1_Silent_p.L1205L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1205	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTCACCAAGGAGGGAGGACT	0.488000													3	48					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	621613	621613	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:621613C>G	ENST00000358353.3	-	6	778	c.456G>C	c.(454-456)gaG>gaC	p.E152D	CDHR5_ENST00000397542.2_Missense_Mutation_p.E152D|CDHR5_ENST00000349570.7_Missense_Mutation_p.E152D			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	152	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TGTCGCGGTCCTCAGCCTGCA	0.637000													4	99					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837111	40837111	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:40837111C>G	ENST00000264638.4	+	4	683	c.466C>G	c.(466-468)Cgc>Ggc	p.R156G	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	156	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGGAACCCACGCGGCAAGAT	0.642000													4	68					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98829284	98829284	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:98829284G>T	ENST00000267291.6	-	1	235	c.207C>A	c.(205-207)ctC>ctA	p.L69L	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	69							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GCCAGCTGTGGAGGCCCCGGG	0.746000													4	17					0.150653	0.151286	1	1	0
FMN2	56776	broad.mit.edu	37	1	240256745	240256745	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:240256745C>A	ENST00000319653.9	+	1	1566	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	446					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)			GATCAAGAGGCGGCCGGAACC	0.687000													27	54					1.77063e-15	2.07781e-15	1	1	0
GCAT	23464	broad.mit.edu	37	22	38211679	38211679	+	Missense_Mutation	SNP	C	C	A	rs142256511		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:38211679C>A	ENST00000323205.6	+	7	965	c.902C>A	c.(901-903)aCg>aAg	p.T301K	GCAT_ENST00000248924.6_Missense_Mutation_p.T275K	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	275					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGGGGCTACACGACAGGGCCT	0.662000													6	136					5.9392e-07	6.43264e-07	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10602293	10602293	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10602293C>T	ENST00000171111.5	-	3	1832	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	KEAP1_ENST00000393623.2_Missense_Mutation_p.G429S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGGAGCCGCCGACGGCATAG	0.652000													5	21					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481843	142481843	+	RNA	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:142481843C>G	ENST00000603901.1	+	0	522					NR_001296.3																						GTAAAGCCTCCTACCCTTTAA	0.512000													6	42					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20118762	20118762	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:20118762A>C	ENST00000541730.1	-	8	1065	c.470T>G	c.(469-471)gTg>gGg	p.V157G	MBOAT1_ENST00000324607.7_Missense_Mutation_p.V306G			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	306					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGCGTTATTCACTGCATCAGC	0.393000													18	27					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622179	64622179	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:64622179C>G	ENST00000320631.3	-	5	1485	c.1231G>C	c.(1231-1233)Ggc>Cgc	p.G411R	EHD1_ENST00000359393.2_Missense_Mutation_p.G411R|EHD1_ENST00000488711.1_5'UTR	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	411					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AAGGCGCCGCCCTTGACCACC	0.677000													9	201					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176684032	176684032	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:176684032C>T	ENST00000439151.2	+	13	4891	c.4846C>T	c.(4846-4848)Cat>Tat	p.H1616Y	NSD1_ENST00000354179.4_Missense_Mutation_p.H1347Y|NSD1_ENST00000347982.4_Missense_Mutation_p.H1347Y|NSD1_ENST00000361032.4_Missense_Mutation_p.H1513Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1616			H -> L (in SOTOSS).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAGTTTTACCATGAAGAGTG	0.463000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			23	43					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152163838	152163838	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:152163838G>T	ENST00000440973.1	+	4	929	c.559G>T	c.(559-561)Gtg>Ttg	p.V187L	ESR1_ENST00000206249.3_Missense_Mutation_p.V187L|ESR1_ENST00000338799.5_Missense_Mutation_p.V187L|ESR1_ENST00000544394.1_Missense_Mutation_p.V14L|ESR1_ENST00000456483.2_Missense_Mutation_p.V187L|ESR1_ENST00000443427.1_Missense_Mutation_p.V187L|ESR1_ENST00000406599.1_Intron	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	187	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTACTGTGCAGTGTGCAATGA	0.478000													21	39					2.32416e-17	2.77275e-17	1	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51633170	51633170	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:51633170C>T	ENST00000250360.3	+	7	1293	c.1226C>T	c.(1225-1227)gCa>gTa	p.A409V	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	409					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAACCTTGGGCAGAAGACAGT	0.602000													42	68					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155232562	155232562	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:155232562C>A	ENST00000369423.2	+	3	199	c.161C>A	c.(160-162)tCc>tAc	p.S54Y	IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000244174.5_Intron|IL9R_ENST00000540897.1_Missense_Mutation_p.S44Y			Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAGCCCAGTCCCTTGCAGGC	0.627000													43	69					2.35958e-20	2.85299e-20	1	1	0
SEC22A	26984	broad.mit.edu	37	3	122964834	122964834	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:122964834C>T	ENST00000309934.4	+	4	1526	c.630C>T	c.(628-630)ggC>ggT	p.G210G	SEC22A_ENST00000492595.1_Silent_p.G210G|SEC22A_ENST00000481965.2_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	210					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TAATTCGAGGCTTTCATGCTA	0.398000													44	62					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75520940	75520940	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:75520940C>G	ENST00000297785.3	-	12	1421	c.1367G>C	c.(1366-1368)tGc>tCc	p.C456S		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	456					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CACGCCATAGCAATTCACCCT	0.358000													3	35					0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46198710	46198710	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:46198710C>T	ENST00000012049.5	+	3	588	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	123				Missing (in Ref. 4; AAH11553).	peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		GGAGGCCACGCTGCGGTCCCT	0.647000													32	47					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	853762	853762	+	Splice_Site	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:853762C>G	ENST00000381922.3	-	9	1455	c.1351_splice	c.e9-1	p.G451_splice	ANGPT4_ENST00000546022.1_Splice_Site_p.V408_splice	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	451	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAAACCACCACCCTGGTGGAA	0.592000													7	23					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792908	131792908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:131792908C>A	ENST00000286355.5	-	18	5576	c.3484G>T	c.(3484-3486)Gaa>Taa	p.E1162*	ADCY8_ENST00000377928.3_Nonsense_Mutation_p.E1031*	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1162					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATTTTTCCTTCCTGTTCACTG	0.522000										HNSCC(32;0.087)			8	115					0.000157383	0.000164976	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433332	55433332	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55433332G>A	ENST00000314259.3	+	1	719	c.690G>A	c.(688-690)ggG>ggA	p.G230G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GCTCTAAAGGGCGGCACAAAG	0.498000													52	66					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30872791	30872791	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:30872791G>A	ENST00000378933.1	-	3	1168	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.H331Y|TAB3_ENST00000288422.2_Missense_Mutation_p.H331Y|TAB3_ENST00000378932.2_Missense_Mutation_p.H331Y	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	331	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGATATGGATGGGGTGGAGTA	0.468000													33	44					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581466	77581466	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:77581466C>G	ENST00000355619.5	-	5	1425	c.1101G>C	c.(1099-1101)ggG>ggC	p.G367G	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	367					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		CTTCACATTCCCCTAGTCCAA	0.418000													5	101					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812340	140812340	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140812340C>G	ENST00000252085.3	+	1	2156	c.2014C>G	c.(2014-2016)Ctg>Gtg	p.L672V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCAAGTCCTGGCGGACCT	0.657000													22	150					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31006904	31006904	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:31006904C>G	ENST00000215838.3	+	2	605	c.111C>G	c.(109-111)caC>caG	p.H37Q	TCN2_ENST00000405742.3_Missense_Mutation_p.H37Q|TCN2_ENST00000407817.3_Missense_Mutation_p.H37Q			P20062	TCO2_HUMAN	transcobalamin II	37					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGCCAGCACCTCTTACCTT	0.537000													18	159					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117139491	117139491	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:117139491C>G	ENST00000307564.4	-	3	757	c.596G>C	c.(595-597)aGg>aCg	p.R199T	AKNA_ENST00000374075.5_Missense_Mutation_p.R118T|AKNA_ENST00000312033.3_Missense_Mutation_p.R199T|AKNA_ENST00000374088.3_Missense_Mutation_p.R199T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCTCCAGGACCTTGCCGGGCT	0.612000													13	82					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897460	11897460	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:11897460G>C	ENST00000346436.6	+	20	2251	c.2199G>C	c.(2197-2199)gaG>gaC	p.E733D	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.E733D|CLCN6_ENST00000376487.3_Missense_Mutation_p.E711D	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	733					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCATGGAGGAGCGGTTCC	0.552000													12	116					0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35343985	35343985	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:35343985C>T	ENST00000225402.5	+	5	1153	c.902C>T	c.(901-903)cCa>cTa	p.P301L		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	301	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TTCCAGTACCCAGACACTAGA	0.418000													10	60					0	0	1	0	0
HSD17B10	3028	broad.mit.edu	37	X	53458383	53458383	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:53458383C>A	ENST00000168216.6	-	6	782	c.755G>T	c.(754-756)cGg>cTg	p.R252L	HSD17B10_ENST00000375304.5_Missense_Mutation_p.R243L|HSD17B10_ENST00000375298.4_3'UTR	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	252					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	CCCATCCAGCCGGATGACCTC	0.572000													13	19					4.3838e-07	4.7624e-07	1	1	0
NIPBL	25836	broad.mit.edu	37	5	36995843	36995843	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:36995843G>C	ENST00000282516.8	+	11	3740	c.3241G>C	c.(3241-3243)Gaa>Caa	p.E1081Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1081Q|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1081					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CACAGTTAATGAAAAGCCAAA	0.363000													6	127					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171343	7171343	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:7171343G>C	ENST00000217961.4	+	2	338	c.118G>C	c.(118-120)Gga>Cga	p.G40R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	40					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CCTCGGCATTGGAGATCCTGG	0.517000									Ichthyosis				13	75					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126314937	126314937	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:126314937C>A	ENST00000525144.2	-	10	1438	c.1189G>T	c.(1189-1191)Gtg>Ttg	p.V397L	KIRREL3_ENST00000525704.2_Missense_Mutation_p.V397L|KIRREL3_ENST00000529097.2_Missense_Mutation_p.V397L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	397	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCCCGGCACACGTACTTGCCC	0.637000													33	34					5.8336e-16	6.89076e-16	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039132	11039132	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:11039132C>A	ENST00000470054.1	-	0	1071									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCCTCAGGACATAATGAAGT	0.403000													22	265					1.87028e-06	2.00148e-06	1	1	0
POP7	10248	broad.mit.edu	37	7	100304576	100304576	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:100304576G>A	ENST00000303151.4	+	2	385	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	41					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGTCAACATGAAGACGGACT	0.592000													13	139					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121662422	121662422	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:121662422C>G	ENST00000369075.3	+	3	880	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	SEC23IP_ENST00000543134.1_Missense_Mutation_p.Q59E	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	270	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGAGCCTGTTCAGCCCCACTG	0.468000													4	70					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71739685	71739685	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:71739685G>A	ENST00000318442.5	-	5	2623	c.2133C>T	c.(2131-2133)ggC>ggT	p.G711G		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AAAAAGAGGGGCCCCGCCGGG	0.502000													38	78					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48166390	48166390	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:48166390C>G	ENST00000418331.2	+	13	3091	c.2739C>G	c.(2737-2739)acC>acG	p.T913T		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	913					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATGAGTCAACCACACTTGGTT	0.433000													29	105					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157366	22157366	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:22157366C>T	ENST00000397126.4	-	4	618	c.470G>A	c.(469-471)tGt>tAt	p.C157Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAATTTGAACATTTATGAAA	0.333000													25	37					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523769	95523769	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:95523769G>C	ENST00000297591.5	-	13	3109	c.3034C>G	c.(3034-3036)Ctt>Gtt	p.L1012V	KIAA1429_ENST00000421249.2_Missense_Mutation_p.L1012V|KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1012V|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1012					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTTTAAGAAGAGTGAGTGTG	0.448000													10	107					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668450	176668450	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:176668450G>T	ENST00000367662.3	+	8	4125	c.2961G>T	c.(2959-2961)ttG>ttT	p.L987F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	987					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGAGATCTTGCTGGAAAACA	0.557000													84	119					2.68325e-40	3.36345e-40	1	1	0
PRKRIR	5612	broad.mit.edu	37	11	76062271	76062271	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:76062271C>A	ENST00000260045.3	-	5	2028	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	641					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AACAATGAAGCTCAGCTGACA	0.463000													65	107					1.98135e-44	2.49671e-44	1	1	0
FCRL6	343413	broad.mit.edu	37	1	159778940	159778940	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:159778940C>A	ENST00000321935.6	+	5	616	c.530C>A	c.(529-531)gCc>gAc	p.A177D	FCRL6_ENST00000368106.3_Missense_Mutation_p.A170D|FCRL6_ENST00000339348.5_Missense_Mutation_p.A170D|FCRL6_ENST00000392235.3_Intron			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	170	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ATCCCGGGAGCCAAGGAGGGA	0.632000													27	52					7.41945e-09	8.22217e-09	1	1	0
BLNK	29760	broad.mit.edu	37	10	97975101	97975101	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:97975101C>T	ENST00000224337.5	-	8	793	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	BLNK_ENST00000413476.2_Missense_Mutation_p.A218T|BLNK_ENST00000427367.2_Missense_Mutation_p.A218T|BLNK_ENST00000371176.2_Intron	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	218	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGAGGAGAGGCGGGCGTTGAG	0.353000													30	34					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576928	158576928	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:158576928C>A	ENST00000361284.1	+	1	700	c.700C>A	c.(700-702)Cag>Aag	p.Q234K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTGAGGGGCAGAAGAAGGC	0.512000													56	97					1.0442e-30	1.29307e-30	1	1	0
SLC35G3	146861	broad.mit.edu	37	17	33521019	33521019	+	Missense_Mutation	SNP	C	C	A	rs148354465		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:33521019C>A	ENST00000297307.5	-	1	393	c.308G>T	c.(307-309)cGg>cTg	p.R103L		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	103	DUF6 1.					integral to membrane		p.R103L(1)									GAAGAAGGCCCGGCTTCGGAT	0.592000													96	140					1.59228e-47	2.01352e-47	1	1	0
ZPLD1	131368	broad.mit.edu	37	3	102157397	102157397	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:102157397C>A	ENST00000306176.1	+	2	214	c.114C>A	c.(112-114)aaC>aaA	p.N38K	ZPLD1_ENST00000491959.1_Missense_Mutation_p.N22K|ZPLD1_ENST00000466937.1_Missense_Mutation_p.N22K	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	22						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTCAGTTCAACGGCTACAACT	0.413000													9	40					7.48243e-07	8.09186e-07	1	1	0
POMT1	10585	broad.mit.edu	37	9	134385675	134385675	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:134385675G>C	ENST00000423007.1	+	9	1170	c.728G>C	c.(727-729)cGa>cCa	p.R243P	POMT1_ENST00000354713.4_Missense_Mutation_p.R213P|POMT1_ENST00000419118.2_Missense_Mutation_p.R91P|POMT1_ENST00000341012.7_Missense_Mutation_p.R189P|POMT1_ENST00000541219.1_Missense_Mutation_p.R21P|POMT1_ENST00000372228.3_Missense_Mutation_p.R265P|POMT1_ENST00000402686.3_Missense_Mutation_p.R243P|POMT1_ENST00000404875.2_Missense_Mutation_p.R126P	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	265					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCTCGCCCGAGCAGTGGCT	0.517000													7	41					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71341771	71341771	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:71341771C>G	ENST00000260382.5	+	16	2141	c.1881C>G	c.(1879-1881)ttC>ttG	p.F627L	LRRC49_ENST00000560369.1_Missense_Mutation_p.F632L|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.F583L|LRRC49_ENST00000560691.1_Missense_Mutation_p.F333L|LRRC49_ENST00000560158.2_Missense_Mutation_p.F315L|LRRC49_ENST00000544974.2_Missense_Mutation_p.F617L	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	627						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGAAGAAATTCTGTAAAACAT	0.333000													3	48					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234357766	234357766	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:234357766G>C	ENST00000264057.2	+	15	1644	c.1632G>C	c.(1630-1632)gaG>gaC	p.E544D	DGKD_ENST00000409813.3_Missense_Mutation_p.E500D	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	544					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCCTGAAAGAGAAGCTGGATT	0.577000													7	153					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162697188	162697188	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:162697188T>G	ENST00000306100.5	-	5	884	c.448A>C	c.(448-450)Aat>Cat	p.N150H	FSTL5_ENST00000536695.1_Missense_Mutation_p.N149H|FSTL5_ENST00000379164.4_Missense_Mutation_p.N149H|FSTL5_ENST00000427802.2_Missense_Mutation_p.N149H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	150						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATAGCATATTTTTCATCTTG	0.279000													13	17					0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3727627	3727627	+	Translation_Start_Site	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:3727627C>A	ENST00000575671.1	-	0	678				TRAP1_ENST00000246957.5_Missense_Mutation_p.E192D|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.E139D			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1						cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TGCTGCTGGCCTCAGCCTGGT	0.612000													10	62					4.68919e-08	5.16459e-08	1	1	0
KIFC3	3801	broad.mit.edu	37	16	57803506	57803506	+	Splice_Site	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:57803506C>G	ENST00000379655.4	-	9	1476		c.e9+1		KIFC3_ENST00000539578.1_Splice_Site|KIFC3_ENST00000541240.1_Splice_Site|KIFC3_ENST00000445690.2_Splice_Site|KIFC3_ENST00000540079.2_Splice_Site|KIFC3_ENST00000421376.2_Splice_Site|KIFC3_ENST00000543930.1_Splice_Site|KIFC3_ENST00000562903.1_Splice_Site|KIFC3_ENST00000465878.2_Splice_Site	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCCTCGCTCACCTCGGCCTTG	0.657000													18	48					0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56295745	56295745	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:56295745C>G	ENST00000408946.2	-	3	677	c.526G>C	c.(526-528)Gtc>Ctc	p.V176L	WIBG_ENST00000398213.4_Missense_Mutation_p.V175L|WIBG_ENST00000302533.6_5'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	176	eIF2A-like.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCTGGCTGACTTCCCCAGCC	0.542000													11	314					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24588916	24588916	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:24588916G>C	ENST00000535378.1	-	5	1514	c.872C>G	c.(871-873)aCa>aGa	p.T291R	KIAA0319_ENST00000378214.3_Missense_Mutation_p.T300R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.T255R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.T300R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.T300R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	300					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCTGTGCTCTGTACTCCCCGG	0.582000													47	71					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48935372	48935372	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:48935372C>A	ENST00000356463.3	-	5	603	c.165G>T	c.(163-165)gaG>gaT	p.E55D	WDR45_ENST00000485908.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.E55D|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.E55D|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376372.3_Missense_Mutation_p.E55D|WDR45_ENST00000376368.2_Missense_Mutation_p.E55D|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000473974.1_Missense_Mutation_p.E55D	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	55					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGTGCAGCATCTCCACCAAGC	0.612000													6	12					0.00116845	0.00121417	1	1	0
GABRD	2563	broad.mit.edu	37	1	1961046	1961046	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:1961046C>G	ENST00000378585.4	+	8	987	c.904C>G	c.(904-906)Cca>Gca	p.P302A		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	302						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCTCCCTGCCACGGGCATC	0.607000													28	26					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113293531	113293531	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:113293531C>T	ENST00000297405.5	-	59	9624	c.9380G>A	c.(9379-9381)cGa>cAa	p.R3127Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3057Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3087Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2958Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3127	Sushi 23.					integral to membrane|plasma membrane		p.R3087L(1)|p.R3127L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCATCAATTCGGAAGACTTT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	38					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038820	75038820	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:75038820G>T	ENST00000326665.5	-	14	2792	c.2574C>A	c.(2572-2574)ccC>ccA	p.P858P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	858	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTGTCCTATGGGGTCTGACC	0.532000													64	91					2.32099e-22	2.85446e-22	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167298231	167298231	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:167298231G>T	ENST00000409855.1	-	14	1958	c.1832C>A	c.(1831-1833)cCa>cAa	p.P611Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	611					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTGGAATGTTGGCCAATACTT	0.363000													30	31					1.30897e-18	1.57208e-18	1	1	0
FAM46D	169966	broad.mit.edu	37	X	79698352	79698352	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:79698352T>C	ENST00000538312.1	+	5	648	c.314T>C	c.(313-315)cTa>cCa	p.L105P	FAM46D_ENST00000308293.5_Missense_Mutation_p.L105P	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	105										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GATGCAGTTCTAGACTGTCTA	0.398000													41	67					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33591157	33591157	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:33591157C>G	ENST00000380099.3	+	1	587	c.579C>G	c.(577-579)caC>caG	p.H193Q	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	193	Glycosyl hydrolase-1 1.		H -> R (in HFTC; impairs the ability to form a ternary complex with FGF23 and FGFR1c; impairs KL-dependent FGF23 signaling).		aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCTGTACCACTGGGACCTGC	0.731000													3	14					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151860476	151860476	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:151860476G>C	ENST00000355193.2	-	43	10404	c.10186C>G	c.(10186-10188)Caa>Gaa	p.Q3396E	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q3396E					lysine (K)-specific methyltransferase 2C																		TCCCGTTCTTGAAAACTTTCA	0.468000													38	147					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31075521	31075521	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:31075521G>C	ENST00000538906.1	-	2	1044	c.260C>G	c.(259-261)cCg>cGg	p.P87R	ZNF668_ENST00000539836.3_Missense_Mutation_p.P110R|ZNF668_ENST00000535577.1_Missense_Mutation_p.P87R|ZNF668_ENST00000394983.2_Missense_Mutation_p.P87R|ZNF668_ENST00000300849.4_Missense_Mutation_p.P87R|ZNF668_ENST00000426488.2_Missense_Mutation_p.P110R	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGGGCATAGCGGACACGCATA	0.677000													8	68					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366917	248366917	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:248366917C>G	ENST00000456743.1	+	1	586	c.548C>G	c.(547-549)tCc>tGc	p.S183C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACTTCCCCTCCCTACTAATC	0.413000													5	278					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236659080	236659080	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:236659080C>T	ENST00000409538.1	+	6	1912	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	AGAP1_ENST00000409457.1_Silent_p.Y207Y|AGAP1_ENST00000304032.7_Silent_p.Y207Y|AGAP1_ENST00000428334.2_Silent_p.Y46Y|AGAP1_ENST00000336665.5_Silent_p.Y207Y			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	207	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGTGCACGTACTACGAGACGT	0.527000													47	97					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41750044	41750044	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:41750044G>C	ENST00000389629.4	+	4	644	c.632G>C	c.(631-633)cGc>cCc	p.R211P		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	211	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTGTTCAATCGCATAGAGAAG	0.502000													10	80					0	0	1	0	0
DDRGK1	65992	broad.mit.edu	37	20	3171381	3171381	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:3171381C>T	ENST00000354488.3	-	9	920	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	288						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GATGGACACCCGGCCCCGCTG	0.647000													6	42					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70350984	70350984	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:70350984G>T	ENST00000305107.6	-	5	1298	c.1252C>A	c.(1252-1254)Cac>Aac	p.H418N	UGT2B4_ENST00000381096.3_Missense_Mutation_p.H282N|UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	418					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GACATTGTGTGGAAGTCCAAA	0.413000													81	119					2.96794e-49	3.75974e-49	1	1	0
TOMM40L	84134	broad.mit.edu	37	1	161198034	161198034	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:161198034G>A	ENST00000367988.3	+	7	812	c.543G>A	c.(541-543)gaG>gaA	p.E181E	TOMM40L_ENST00000367987.1_Silent_p.E181E|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Silent_p.E147E	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	181					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGGAGGAGAGCTAGTTTATC	0.582000											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	34					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686385	181686385	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:181686385C>G	ENST00000526775.1	+	11	1637	c.1472C>G	c.(1471-1473)gCc>gGc	p.A491G	CACNA1E_ENST00000367567.4_Missense_Mutation_p.A98G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A491G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A491G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A442G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A442G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A491G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	491					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCAACACTGCCTGTGTGGCC	0.542000													7	85					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555414	155555414	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:155555414C>T	ENST00000295101.2	+	1	604	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	KCNJ3_ENST00000544049.1_Missense_Mutation_p.R43W	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	43					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAAGAAGAAGCGGCAGCGGTT	0.632000													6	64					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640516	29640516	+	Missense_Mutation	SNP	G	G	A	rs79020217		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:29640516G>A	ENST00000376883.1	-	6	1723	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y	ZFP57_ENST00000376881.3_Missense_Mutation_p.H438Y|ZFP57_ENST00000488757.1_Missense_Mutation_p.H458Y			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	374					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCCCTCCAGTGATCCATAAGG	0.562000													24	50					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6653622	6653622	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6653622C>G	ENST00000299441.3	-	6	3532	c.3121G>C	c.(3121-3123)Gca>Cca	p.A1041P	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1041	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTACTTGCTCCCTCTGCT	0.602000													3	43					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761859	96761859	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:96761859G>T	ENST00000295266.4	+	1	621	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	186					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GAAACGATGAGATCTGTTTGA	0.483000													32	49					3.99451e-17	4.74969e-17	1	1	0
WWC3	55841	broad.mit.edu	37	X	10109515	10109515	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:10109515C>G	ENST00000380861.4	+	23	3644	c.3253C>G	c.(3253-3255)Cct>Gct	p.P1085A	WWC3_ENST00000454666.1_Missense_Mutation_p.P1085A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1085										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GATCAACATACCTCCTCTCCC	0.458000													4	53					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82615267	82615267	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:82615267C>T	ENST00000220669.5	-	7	591	c.573G>A	c.(571-573)aaG>aaA	p.K191K	ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000517588.1_Silent_p.K84K|ZFAND1_ENST00000521287.1_Silent_p.K84K|ZFAND1_ENST00000522520.1_Silent_p.K84K|ZFAND1_ENST00000521895.1_Silent_p.K84K|ZFAND1_ENST00000523096.1_Silent_p.K184K|ZFAND1_ENST00000519523.1_Silent_p.K191K	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	191							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCTATGGCCTTTCCAATGC	0.343000													16	8					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579588	58579588	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:58579588G>C	ENST00000506786.1	+	5	2164	c.1610G>C	c.(1609-1611)gGg>gCg	p.G537A	ZNF135_ENST00000511556.1_Missense_Mutation_p.G591A|ZNF135_ENST00000401053.4_Missense_Mutation_p.G603A|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.G579A|ZNF135_ENST00000439855.2_Missense_Mutation_p.G579A			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	591					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAGCCGTATGGGTGCAATGAG	0.537000													5	91					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265998	42265998	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:42265998G>C	ENST00000199764.6	+	4	1043	c.825G>C	c.(823-825)ggG>ggC	p.G275G	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	275	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TTATCAATGGGACGTTCCAGC	0.502000													5	95					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938093	29938093	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:29938093G>A	ENST00000378993.1	+	8	1612	c.939G>A	c.(937-939)caG>caA	p.Q313Q	IL1RAPL1_ENST00000302196.4_Silent_p.Q313Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	313	Ig-like C2-type 3.				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						TTGGGGAACAGGAAGTTTCCA	0.388000													46	81					0	0	1	0	0
MRTO4	51154	broad.mit.edu	37	1	19584989	19584989	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:19584989C>G	ENST00000330263.4	+	7	809	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	171					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTGCTGTCTGACTACGAG	0.637000													5	141					0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74231360	74231360	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:74231360G>C	ENST00000240285.5	+	3	1233	c.555G>C	c.(553-555)ctG>ctC	p.L185L	RDH10_ENST00000519380.1_Silent_p.L20L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	185					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CTACGATGCTGGAGATTAATC	0.388000													5	193					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398750	89398750	+	Silent	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:89398750T>A	ENST00000439576.2	+	12	3308	c.2934T>A	c.(2932-2934)tcT>tcA	p.S978S	ACAN_ENST00000561243.1_Silent_p.S978S|ACAN_ENST00000559004.1_Silent_p.S978S|ACAN_ENST00000352105.7_Silent_p.S978S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	978					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCTTCCTTCTGGAGAAGTTC	0.552000													84	163					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524859	161524859	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:161524859C>A	ENST00000356592.3	+	4	1003	c.543C>A	c.(541-543)acC>acA	p.T181T	GABRG2_ENST00000414552.2_Silent_p.T181T|GABRG2_ENST00000361925.4_Silent_p.T181T|GABRG2_ENST00000393933.4_Silent_p.T86T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	181				T -> S (in Ref. 1; CAA33437).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGCTCTACACCCTAAGGTATT	0.373000													29	66					7.01153e-11	7.87973e-11	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221721	118221721	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:118221721C>G	ENST00000402510.2	-	11	3471	c.3472G>C	c.(3472-3474)Gct>Cct	p.A1158P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1158										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AACTGGGTAGCATATTGGGGA	0.473000													30	40					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24888722	24888722	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:24888722G>C	ENST00000313367.2	-	12	1683	c.1232C>G	c.(1231-1233)cCc>cGc	p.P411R	OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P380R|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P380R|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000431825.2_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	411					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGCGACAGCGGGGGAGTCGAG	0.557000													4	124					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651011	90651011	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:90651011G>C	ENST00000282146.4	+	2	1332	c.891G>C	c.(889-891)ggG>ggC	p.G297G		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G297G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGGACAGCGGGTGCTGCCCGC	0.537000													19	83					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99762359	99762359	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:99762359G>T	ENST00000370185.3	+	3	971	c.474G>T	c.(472-474)gaG>gaT	p.E158D	LPPR4_ENST00000457765.1_Missense_Mutation_p.E158D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		158							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCGGACTAGAGCCCAACATTA	0.458000													31	57					3.99451e-17	4.74969e-17	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433331	55433331	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55433331G>A	ENST00000314259.3	+	1	718	c.689G>A	c.(688-690)gGg>gAg	p.G230E		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AGCTCTAAAGGGCGGCACAAA	0.498000													54	63					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137877	72137877	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:72137877C>G	ENST00000555818.1	+	8	2645	c.2297C>G	c.(2296-2298)cCt>cGt	p.P766R	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P766R|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P766R|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P241R	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	766	Rap-GAP.				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)		TCCTTTGGGCCTCCCATTCCT	0.458000													6	231					0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167414881	167414881	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:167414881T>C	ENST00000392750.2	-	5	601	c.184A>G	c.(184-186)Atc>Gtc	p.I62V	PDCD10_ENST00000471885.1_Missense_Mutation_p.I62V|PDCD10_ENST00000470131.1_Missense_Mutation_p.I62V|PDCD10_ENST00000487947.2_Missense_Mutation_p.I62V|PDCD10_ENST00000497056.2_Missense_Mutation_p.I62V|PDCD10_ENST00000461494.1_Missense_Mutation_p.I62V|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000473645.2_Missense_Mutation_p.I62V	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	62					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTCATAATGATGTCTTGTGTG	0.343000													17	30					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073611	8073611	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:8073611G>C	ENST00000377482.5	-	4	1271	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	350	Interaction with EGFR and ERBB2 and regulation of EGFR activation.				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GCAAAGCTCTGTGTCGGGGGC	0.527000													25	201					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121367578	121367578	+	Splice_Site	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:121367578G>A	ENST00000260197.7	+	6	888	c.758_splice	c.e6-1	p.W253_splice	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	253					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTCTGCCAGGGGAATTGATC	0.403000													14	23					0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21886680	21886680	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:21886680G>C	ENST00000365779.2	+	6	847	c.766G>C	c.(766-768)Gtg>Ctg	p.V256L	MBTPS2_ENST00000379484.5_Missense_Mutation_p.V256L			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	256					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						TGGAGTTGGGGTGCTCATCAC	0.398000													8	227					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14120551	14120551	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:14120551G>C	ENST00000380959.3	-	8	1606	c.1133C>G	c.(1132-1134)cCa>cGa	p.P378R	NFIB_ENST00000380934.4_Missense_Mutation_p.P404R|NFIB_ENST00000380953.1_Missense_Mutation_p.P378R|NFIB_ENST00000397581.2_Missense_Mutation_p.P378R|NFIB_ENST00000397575.3_Missense_Mutation_p.P378R|NFIB_ENST00000543693.1_Missense_Mutation_p.P126R|NFIB_ENST00000397579.2_Missense_Mutation_p.P378R|NFIB_ENST00000380924.1_Missense_Mutation_p.P126R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	378					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTAGCTCGATGGGGCTGGAGG	0.468000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								7	51					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57935135	57935135	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:57935135G>T	ENST00000358697.4	-	1	1932	c.1720C>A	c.(1720-1722)Ctc>Atc	p.L574I		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	574	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGAGCTAAGAGATCCTGGCCC	0.463000													40	71					1.86277e-20	2.25609e-20	1	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237576	30237576	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:30237576C>G	ENST00000378988.4	+	2	980	c.879C>G	c.(877-879)gcC>gcG	p.A293A		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	293	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGTTTTTGGCCAAGGTAAATG	0.527000													4	60					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159912857	159912857	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:159912857C>G	ENST00000368094.1	-	3	340	c.143G>C	c.(142-144)gGc>gCc	p.G48A	IGSF9_ENST00000361509.3_Missense_Mutation_p.G48A	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	48	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ggggggccggccggccggggg	0.642000													14	21					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	28030080	28030080	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:28030080G>C	ENST00000269033.3	-	3	259	c.107_splice	c.e3-1	p.S36_splice	SSH2_ENST00000324677.7_5'UTR|SSH2_ENST00000540801.1_Splice_Site_p.S63_splice|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	36					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTCGCTGATGCTACAAGGAA	0.413000													8	81					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72069969	72069969	+	Missense_Mutation	SNP	C	C	T	rs139268876		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:72069969C>T	ENST00000294053.3	-	6	993	c.820G>A	c.(820-822)Gtt>Att	p.V274I	CLPB_ENST00000543042.1_Missense_Mutation_p.V73I|CLPB_ENST00000538039.1_Missense_Mutation_p.V244I|CLPB_ENST00000437826.2_Missense_Mutation_p.V229I|CLPB_ENST00000445069.2_Missense_Mutation_p.V170I|CLPB_ENST00000340729.5_Missense_Mutation_p.V215I|RP11-45F15.2_ENST00000537727.1_RNA	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	274					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TCAGCAAGAACAGCATAGTGC	0.582000													39	53					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410270	103410270	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:103410270G>C	ENST00000361246.2	-	30	4654	c.4366C>G	c.(4366-4368)Cgc>Ggc	p.R1456G		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1456	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTGCGCGCGTGCCCTCCGG	0.567000													4	33					0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6420344	6420344	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:6420344G>T	ENST00000325203.5	-	1	586	c.112C>A	c.(112-114)Cat>Aat	p.H38N	ANGPT2_ENST00000523120.1_Missense_Mutation_p.H38N|ANGPT2_ENST00000415216.1_Missense_Mutation_p.H38N|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.H38N			O15123	ANGP2_HUMAN	angiopoietin 2	38					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CAGGACCCATGCTGGACCTGA	0.532000													16	59					2.23348e-06	2.3866e-06	1	1	0
INHBA	3624	broad.mit.edu	37	7	41729258	41729258	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:41729258C>A	ENST00000242208.4	-	3	1517	c.1271G>T	c.(1270-1272)gGg>gTg	p.G424V	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.G424V|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	424					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTATGAGCACCCACACTCCTC	0.458000										TSP Lung(11;0.080)			18	38					1.15919e-05	1.22949e-05	1	1	0
SIRPB1	10326	broad.mit.edu	37	20	1592331	1592331	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:1592331C>G	ENST00000279477.7	-	2	169	c.105G>C	c.(103-105)gtG>gtC	p.V35V	SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.V35V	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	35	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGCTGAATCACCTGCAGCT	0.517000													9	20					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279688	114279688	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:114279688C>G	ENST00000357077.4	+	38	9967	c.9914C>G	c.(9913-9915)cCt>cGt	p.P3305R	ANK2_ENST00000264366.6_Missense_Mutation_p.P3272R|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3272					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAAAATTCCTGTAAGGACT	0.433000													29	106					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394648	154394648	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:154394648C>A	ENST00000435029.4	+	1	1389	c.1229C>A	c.(1228-1230)gCt>gAt	p.A410D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	410					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCAAGGCAGCTGGTCAGACA	0.463000													62	108					4.10029e-35	5.12179e-35	1	1	0
OR1L3	26735	broad.mit.edu	37	9	125438164	125438164	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:125438164T>A	ENST00000304820.2	+	1	850	c.756T>A	c.(754-756)taT>taA	p.Y252*		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TTCTGTTTTATGGGAGTATTA	0.443000													14	23					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24665228	24665228	+	Translation_Start_Site	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:24665228G>T	ENST00000379144.2	-	0	125				PCYT1B_ENST00000379145.1_Intron|PCYT1B_ENST00000356768.4_De_novo_Start_InFrame	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta							endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGCATGGCCAGTGAATGCTCC	0.498000													21	40					1.77063e-15	2.07781e-15	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13859656	13859656	+	Missense_Mutation	SNP	T	T	A	rs80164898		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:13859656T>A	ENST00000265104.4	-	30	4959	c.4855A>T	c.(4855-4857)Aca>Tca	p.T1619S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1619	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					ATGATGTCTGTTGAGTTGGAA	0.413000									Kartagener syndrome				39	182					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95330309	95330309	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:95330309G>C	ENST00000271227.6	+	11	1351	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	SLC44A3_ENST00000467909.1_Missense_Mutation_p.D369H|SLC44A3_ENST00000527077.1_Missense_Mutation_p.D349H|SLC44A3_ENST00000532427.1_Missense_Mutation_p.D337H|SLC44A3_ENST00000529450.1_Missense_Mutation_p.D385H|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Missense_Mutation_p.D381H	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	417						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AAGTAAAAATGATCCTCCTGA	0.388000													4	156					0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41917317	41917317	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:41917317G>A	ENST00000381647.2	+	6	820	c.801G>A	c.(799-801)gtG>gtA	p.V267V		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	267										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGTATCTGTGTGTGAAGGAC	0.393000													23	60					0	0	1	0	0
CMTM7	112616	broad.mit.edu	37	3	32483360	32483360	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:32483360T>G	ENST00000334983.5	+	2	424	c.188T>G	c.(187-189)gTg>gGg	p.V63G	CMTM7_ENST00000349718.4_Missense_Mutation_p.V63G	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	63	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTCATCTGTGTGCGGAGCTCC	0.512000													4	118					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559510	228559510	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:228559510G>C	ENST00000570156.2	+	105	23976	c.23902G>C	c.(23902-23904)Ggt>Cgt	p.G7968R	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4645R|OBSCN_ENST00000422127.1_Missense_Mutation_p.G7011R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7011					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCATCCACTGGTGGCCACCC	0.697000													6	50					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691642	31691642	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:31691642C>G	ENST00000375809.3	+	2	299	c.288C>G	c.(286-288)ctC>ctG	p.L96L	C6orf25_ENST00000375805.2_Silent_p.L96L|C6orf25_ENST00000480039.1_Silent_p.L96L|C6orf25_ENST00000375810.4_Silent_p.L96L	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	96						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GGCTGGAGCTCCTCTTGAGCG	0.662000													10	140					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118835213	118835213	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:118835213G>C	ENST00000504811.1	+	14	1433	c.1249G>C	c.(1249-1251)Gca>Cca	p.A417P	HSD17B4_ENST00000510025.1_Missense_Mutation_p.A368P|HSD17B4_ENST00000256216.6_Missense_Mutation_p.A392P|HSD17B4_ENST00000414835.2_Missense_Mutation_p.A252P|HSD17B4_ENST00000515320.1_Missense_Mutation_p.A374P|HSD17B4_ENST00000509514.1_Missense_Mutation_p.A130P|HSD17B4_ENST00000513628.1_Missense_Mutation_p.A255P	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	392	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TGGAGGATTAGCAGAAATTCC	0.318000													6	151					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89069315	89069315	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:89069315C>G	ENST00000251038.5	+	12	1883	c.1658C>G	c.(1657-1659)tCa>tGa	p.S553*	ZC3H14_ENST00000555900.1_Nonsense_Mutation_p.S255*|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.S553*|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.S528*|ZC3H14_ENST00000302216.8_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	553						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACTGCAGCCTCAAACAAGGGA	0.527000													7	55					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67513736	67513736	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:67513736G>C	ENST00000590474.1	+	4	515	c.228G>C	c.(226-228)ggG>ggC	p.G76G	MAP2K6_ENST00000589647.1_Silent_p.G20G	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	76	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGCCCAGCGGGCAGATCATGG	0.493000													4	26					0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2746144	2746144	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:2746144G>A	ENST00000510267.1	-	5	1102	c.675C>T	c.(673-675)gcC>gcT	p.A225A	TNIP2_ENST00000503235.1_Silent_p.A249A|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Silent_p.A332A	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	332						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCAAAGAGGCGACCTTTT	0.473000													30	61					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62366709	62366709	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:62366709C>G	ENST00000519846.1	+	5	1112	c.640C>G	c.(640-642)Cct>Gct	p.P214A	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.P214A			Q8IUQ0	CLVS1_HUMAN	clavesin 1	214	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGACAGCTTTCCTGCCCGCTT	0.498000													13	319					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637319	60637319	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:60637319C>G	ENST00000278853.5	+	3	628	c.628C>G	c.(628-630)Caa>Gaa	p.Q210E		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	210					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACCCTGGCTCAACCCCACTG	0.582000													8	41					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6939846	6939846	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:6939846G>T	ENST00000308027.6	+	1	453	c.145G>T	c.(145-147)Gca>Tca	p.A49S		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	49						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGAGGAGCAGGCAGCGCGCGT	0.632000													29	50					2.14196e-07	2.33047e-07	1	1	0
OC90	729330	broad.mit.edu	37	8	133053934	133053934	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:133053934G>A	ENST00000262283.5	-	8	869	c.770C>T	c.(769-771)cCc>cTc	p.P257L	OC90_ENST00000254627.3_Missense_Mutation_p.P61L|OC90_ENST00000603859.1_Missense_Mutation_p.P61L|OC90_ENST00000443356.2_Missense_Mutation_p.P61L			Q02509	OC90_HUMAN	otoconin 90	61					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGTGAAGTGGGGGCCCAGGCA	0.587000													11	10					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390551	197390551	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:197390551G>C	ENST00000367400.3	+	6	1728	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	CRB1_ENST00000535699.1_Silent_p.V462V|CRB1_ENST00000367399.2_Silent_p.V419V|CRB1_ENST00000544212.1_Silent_p.V12V|CRB1_ENST00000543483.1_Silent_p.V230V|CRB1_ENST00000538660.1_Silent_p.V531V|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	531	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGGGATGTGTTTGTGAAGC	0.463000													12	80					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1375249	1375249	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:1375249C>G	ENST00000359786.5	-	19	2297	c.1973G>C	c.(1972-1974)cGc>cCc	p.R658P	MYO1C_ENST00000545534.2_Missense_Mutation_p.R634P|MYO1C_ENST00000438665.2_Missense_Mutation_p.R639P|MYO1C_ENST00000575158.1_Missense_Mutation_p.R623P|MYO1C_ENST00000361007.2_Missense_Mutation_p.R623P	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	658	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCGGCTCTGCGCACGCGCAG	0.657000													8	133					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													3	18					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005544	150005544	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:150005544G>C	ENST00000543571.1	-	4	1228	c.681C>G	c.(679-681)caC>caG	p.H227Q	LATS1_ENST00000392273.3_Missense_Mutation_p.H227Q|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.H227Q	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	227					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CGTTGCTAGGGTGAGCTTGAA	0.512000													12	97					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135875	51135875	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:51135875C>G	ENST00000338916.4	-	2	975	c.342G>C	c.(340-342)ggG>ggC	p.G114G	SYT3_ENST00000600079.1_Silent_p.G114G|SYT3_ENST00000593901.1_Silent_p.G114G|SYT3_ENST00000544769.1_Silent_p.G114G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	114						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGGTGGTGCCCGCCTCCGC	0.721000													18	8					0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079503	74079503	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:74079503C>G	ENST00000370359.5	-	1	12	c.13G>C	c.(13-15)Gct>Cct	p.A5P	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	5						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGGCACCAGCATCATCGACC	0.652000													4	131					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43190368	43190368	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:43190368C>A	ENST00000322765.5	-	15	2254	c.2141G>T	c.(2140-2142)cGc>cTc	p.R714L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	715	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CTGCCCCCAGCGGGGGTTGAA	0.652000													12	28					1.67942e-08	1.85824e-08	1	1	0
FH	2271	broad.mit.edu	37	1	241680534	241680534	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:241680534G>C	ENST00000366560.3	-	2	253	c.215C>G	c.(214-216)aCc>aGc	p.T72S	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	72					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGATCTCACGGTCTGGGCGCC	0.418000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				9	75					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327211	30327211	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:30327211C>T	ENST00000378970.4	-	1	504	c.270G>A	c.(268-270)acG>acA	p.T90T	NR0B1_ENST00000453287.1_Silent_p.T90T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	90	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GTGCCGCGTACGTTTGCTTTG	0.682000													5	58					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3612145	3612145	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:3612145G>C	ENST00000429344.2	-	10	2105	c.2053C>G	c.(2053-2055)Ctc>Gtc	p.L685V	CACTIN_ENST00000248420.5_Missense_Mutation_p.L685V|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.L617V	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		TTGTCGATGAGGTCGGGGTAG	0.592000													6	216					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49083523	49083523	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:49083523C>A	ENST00000376265.2	-	9	1246	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q395H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q330H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	395	Binding to the beta subunit (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTCCATCTGCTGCTTCTCCC	0.597000													5	13					5.9392e-07	6.43264e-07	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34149858	34149858	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:34149858C>A	ENST00000346193.3	-	1	589	c.538G>T	c.(538-540)Ggt>Tgt	p.G180C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	180	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGATGTTTACCAGGCTCAGTG	0.582000													35	43					3.21399e-22	3.9392e-22	1	1	0
CHD8	57680	broad.mit.edu	37	14	21896184	21896184	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:21896184C>G	ENST00000399982.2	-	3	1509	c.1445G>C	c.(1444-1446)cGa>cCa	p.R482P	CHD8_ENST00000557364.1_Missense_Mutation_p.R482P|CHD8_ENST00000430710.3_Missense_Mutation_p.R203P|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	482					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATTTAAGACTCGAGGTATGTT	0.547000													7	95					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33591184	33591184	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:33591184C>T	ENST00000380099.3	+	1	614	c.606C>T	c.(604-606)gaC>gaT	p.D202D	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	202	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCTGCAGGACGCCTACGGCG	0.697000													3	14					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108497823	108497823	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:108497823C>G	ENST00000368986.4	+	4	1084	c.376C>G	c.(376-378)Cct>Gct	p.P126A	NR2E1_ENST00000368983.3_Missense_Mutation_p.P163A|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	126					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGCGGCGCTCCCTGCGCCGGC	0.706000													5	15					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882899	126882899	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:126882899C>A	ENST00000339582.2	-	2	1168	c.360G>T	c.(358-360)gtG>gtT	p.V120V	GRM8_ENST00000358373.3_Silent_p.V120V|GRM8_ENST00000444921.2_Silent_p.V120V|GRM8_ENST00000405249.1_Silent_p.V120V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	120					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTAATGCCTGCACGAATGTTA	0.498000										HNSCC(24;0.065)			28	41					9.39395e-14	1.08462e-13	1	1	0
IL4R	3566	broad.mit.edu	37	16	27363900	27363900	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:27363900C>T	ENST00000395762.2	+	7	812	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	IL4R_ENST00000543915.2_Missense_Mutation_p.R185C|IL4R_ENST00000449195.1_Missense_Mutation_p.R185C|IL4R_ENST00000380922.3_Missense_Mutation_p.R170C|IL4R_ENST00000170630.2_Missense_Mutation_p.R185C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	185	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ACCCTCCCTCCGCATCGCAGC	0.602000													21	107					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74752215	74752215	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:74752215C>G	ENST00000404568.3	-	3	571	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	DQX1_ENST00000393951.2_Missense_Mutation_p.E118Q	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	118	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGTCCATCTCATCAGCAACC	0.617000													10	85					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1585124	1585124	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:1585124C>G	ENST00000572621.1	-	4	908	c.643G>C	c.(643-645)Gac>Cac	p.D215H	PRPF8_ENST00000304992.6_Missense_Mutation_p.D215H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	215						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCCTGCTGTCCCTCAACGGC	0.537000													5	136					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415927	5415927	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:5415927C>A	ENST00000341928.2	-	13	2297	c.1957G>T	c.(1957-1959)Gct>Tct	p.A653S	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A653S|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	653	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGAGTGAGAGCGTATGGCACT	0.572000													35	52					1.36615e-20	1.65741e-20	1	1	0
VN1R2	317701	broad.mit.edu	37	19	53762018	53762018	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:53762018C>A	ENST00000341702.3	+	1	474	c.390C>A	c.(388-390)caC>caA	p.H130Q		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	130					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTCTCAGGCACCTGACTGTAG	0.373000													23	39					2.79863e-10	3.13045e-10	1	1	0
PCNT	5116	broad.mit.edu	37	21	47831330	47831330	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:47831330G>T	ENST00000359568.5	+	28	5450	c.5343G>T	c.(5341-5343)ggG>ggT	p.G1781G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1781					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCCAGGCCGGGGGCCCTCGTG	0.697000													23	27					1.50039e-11	1.69681e-11	1	1	0
TBC1D13	54662	broad.mit.edu	37	9	131565604	131565604	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:131565604C>G	ENST00000372648.5	+	8	769	c.619C>G	c.(619-621)Cac>Gac	p.H207D	TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000539497.1_Missense_Mutation_p.H26D|TBC1D13_ENST00000466056.1_3'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	207	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CTGTGAGGCCCACTGGGAGGT	0.552000													11	54					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57921681	57921681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:57921681C>T	ENST00000355673.3	+	9	2643	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	MBD6_ENST00000431731.2_Nonsense_Mutation_p.Q763*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	763	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGCCTGTTGCAGCCTCCTGG	0.612000													62	85					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122538684	122538684	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:122538684C>A	ENST00000264357.5	+	10	1711	c.1419C>A	c.(1417-1419)tcC>tcA	p.S473S	GRIA3_ENST00000371256.5_Silent_p.S473S|GRIA3_ENST00000371251.1_Silent_p.S473S|GRIA3_ENST00000542149.1_Silent_p.S473S|GRIA3_ENST00000541091.1_Silent_p.S457S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	473					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAAATTGTCCATCGTTGGTG	0.418000													61	109					5.73332e-34	7.13678e-34	1	1	0
FKBP15	23307	broad.mit.edu	37	9	115932873	115932873	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:115932873G>T	ENST00000238256.3	-	25	2812	c.2695C>A	c.(2695-2697)Cgg>Agg	p.R899R		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	899					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AACTCTCTCCGTAAGGACTGG	0.433000													49	61					2.0833e-19	2.51046e-19	1	1	0
EGF	1950	broad.mit.edu	37	4	110932604	110932604	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:110932604C>G	ENST00000265171.5	+	24	4062	c.3617C>G	c.(3616-3618)aCt>aGt	p.T1206S	EGF_ENST00000503392.1_Missense_Mutation_p.T1165S|EGF_ENST00000509793.1_Missense_Mutation_p.T1164S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1206					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATGGAGCTGACTCAGTGAAAA	0.443000													16	99					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43173654	43173654	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:43173654G>C	ENST00000592782.1	+	6	727		c.e6+1		NMT1_ENST00000258960.2_Splice_Site|NMT1_ENST00000590114.1_Splice_Site			P30419	NMT1_HUMAN	N-myristoyltransferase 1						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TTCTTTTGTGGTAAGTTGTGG	0.468000													5	67					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59629092	59629092	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:59629092C>A	ENST00000257264.3	-	4	568	c.464G>T	c.(463-465)tGt>tTt	p.C155F	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	155					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTGAACAGACACAAGGCCAA	0.433000													22	83					3.8784e-16	4.5888e-16	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54313468	54313468	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:54313468C>T	ENST00000324134.6	-	3	1613	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	NLRP12_ENST00000535162.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R482Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R482Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R482Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R482Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	482	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCGTGCTTCCGGAGGTCCTG	0.567000													47	80					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433972	179433972	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179433972C>T	ENST00000589042.1	-	326	77111	c.76887G>A	c.(76885-76887)ggG>ggA	p.G25629G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G23061G|TTN_ENST00000460472.2_Silent_p.G16564G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.G16756G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G16689G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G23988G|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23988							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)			TTTTGGATCCCCCATCCAACA	0.398000													92	142					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64416650	64416650	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:64416650C>T	ENST00000358025.3	+	7	746	c.516C>T	c.(514-516)tgC>tgT	p.C172C	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Silent_p.C172C|SYNE2_ENST00000341472.5_Silent_p.C172C|SYNE2_ENST00000344113.4_Silent_p.C172C|SYNE2_ENST00000554584.1_Silent_p.C172C	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	172	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAAGAAATGCTCTAAAGTGC	0.473000													58	114					0	0	1	0	0
CREG2	200407	broad.mit.edu	37	2	101971791	101971791	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:101971791G>C	ENST00000324768.4	-	3	786	c.649C>G	c.(649-651)Cag>Gag	p.Q217E		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	217						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGCGTTAACTGGACACATCGG	0.398000													6	27					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193332690	193332690	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:193332690C>G	ENST00000361510.2	+	2	445	c.211C>G	c.(211-213)Cgt>Ggt	p.R71G	OPA1_ENST00000361828.2_Missense_Mutation_p.R71G|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Missense_Mutation_p.R71G|OPA1_ENST00000361908.3_Missense_Mutation_p.R71G|OPA1_ENST00000392438.3_Missense_Mutation_p.R71G|OPA1_ENST00000361715.2_Missense_Mutation_p.R71G	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	71					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCTTCCTTTACGTAAACTGAA	0.403000													6	32					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103708	53103708	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:53103708C>A	ENST00000408890.4	+	1	360	c.344C>A	c.(343-345)gCc>gAc	p.A115D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	115										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTCTCCTGTGCCTGGGAGGGT	0.716000													19	28					4.96729e-08	5.45413e-08	1	1	0
RAD52	5893	broad.mit.edu	37	12	1023247	1023247	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:1023247G>C	ENST00000358495.3	-	11	1146	c.1008C>G	c.(1006-1008)ccC>ccG	p.P336P	RAD52_ENST00000539046.1_Silent_p.P259P|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Silent_p.P336P	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	336					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CCCCTGCATCGGGAGTCACAG	0.498000								Homologous recombination					4	51					0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114530081	114530081	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:114530081G>C	ENST00000357389.3	-	12	1646	c.1494C>G	c.(1492-1494)gaC>gaG	p.D498E	GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.D401E|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.D455E|GAS6_ENST00000450766.1_Missense_Mutation_p.D182E|GAS6_ENST00000418959.3_Missense_Mutation_p.D156E			Q14393	GAS6_HUMAN	growth arrest-specific 6	498	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGATGGTGGTGTCTTCTCCGT	0.562000													9	70					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905889	144905889	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:144905889G>T	ENST00000370490.1	+	1	6201	c.1946G>T	c.(1945-1947)gGa>gTa	p.G649V	SLITRK2_ENST00000434188.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G649V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	649						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCGAAAGGGAGTGCCGAGC	0.443000													60	102					7.37877e-41	9.26546e-41	1	1	0
SLC35C1	55343	broad.mit.edu	37	11	45832798	45832798	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:45832798C>G	ENST00000314134.3	+	2	2403	c.1007C>G	c.(1006-1008)gCc>gGc	p.A336G	SLC35C1_ENST00000456334.1_Missense_Mutation_p.A323G|SLC35C1_ENST00000442528.2_Missense_Mutation_p.A323G	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	336						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GGCTCCTCCGCCTACACCTGG	0.627000													3	29					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52433085	52433085	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:52433085G>C	ENST00000420323.2	+	76	12570	c.12309G>C	c.(12307-12309)tgG>tgC	p.W4103C		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4168					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCAGGCCTGGATCCAAGATG	0.542000													21	216					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129480563	129480563	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:129480563G>A	ENST00000543953.1	+	3	159	c.110G>A	c.(109-111)gGc>gAc	p.G37D	SLC25A14_ENST00000545805.1_Missense_Mutation_p.G72D|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000218197.5_Missense_Mutation_p.G72D|SLC25A14_ENST00000361980.5_Missense_Mutation_p.G69D|SLC25A14_ENST00000339231.3_Missense_Mutation_p.G69D			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	72					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CAGGTTCAAGGCCAAAGCATT	0.403000													50	49					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409371	10409371	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:10409371G>C	ENST00000226207.5	-	18	2108	c.2014C>G	c.(2014-2016)Cac>Gac	p.H672D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	672	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGCACAAAGTGGGGGTGAGTG	0.413000													43	77					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606862	54606862	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:54606862G>C	ENST00000371330.1	-	3	1519	c.672C>G	c.(670-672)ccC>ccG	p.P224P		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	224	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACACGAGGGTGGGGGGCCTGG	0.622000													4	53					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129689	6129689	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6129689C>G	ENST00000316529.3	+	1	776	c.681C>G	c.(679-681)atC>atG	p.I227M	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGTAATCCTTCACTCTG	0.468000													15	83					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42866331	42866331	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:42866331C>T	ENST00000398585.3	-	3	361	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.V64I|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.V64I|TMPRSS2_ENST00000497881.1_Intron	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	64					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTGCAGACGACGGGGTTGGAA	0.602000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								24	37					0	0	1	0	0
WDR73	84942	broad.mit.edu	37	15	85188753	85188753	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:85188753G>A	ENST00000434634.2	-	7	892	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	278										cervix(1)|large_intestine(1)|lung(1)	3						ACTCGCAGCAGCTCTGGGTCA	0.562000													6	11					0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18909861	18909861	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:18909861C>T	ENST00000357068.6	-	7	1171	c.906G>A	c.(904-906)acG>acA	p.T302T	PRODH_ENST00000334029.2_Silent_p.T194T|PRODH_ENST00000420436.1_Silent_p.T194T	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	302					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GGGTCTCTGCCGTGAACCAGT	0.577000													9	12					0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20761029	20761029	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:20761029C>G	ENST00000400451.2	+	5	2220	c.1706C>G	c.(1705-1707)tCg>tGg	p.S569W	ZNF74_ENST00000356671.5_Missense_Mutation_p.S569W|ZNF74_ENST00000405993.1_Missense_Mutation_p.S537W|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	569				S -> P (in Ref. 5; BAH13068).	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AACTGGAGCTCGCACCTCACT	0.537000													4	94					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73061343	73061343	+	RNA	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:73061343A>T	ENST00000429829.1	-	0	11245					NR_001564.2																						TTCAGTTATTACAAAGAACTG	0.433000													25	51					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080353	54080353	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:54080353T>A	ENST00000253144.9	+	7	1872	c.539T>A	c.(538-540)aTt>aAt	p.I180N	ZNF331_ENST00000449416.1_Missense_Mutation_p.I180N|ZNF331_ENST00000411977.2_Missense_Mutation_p.I180N|ZNF331_ENST00000513999.1_Missense_Mutation_p.I180N|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.I180N|ZNF331_ENST00000511154.1_Missense_Mutation_p.I180N|ZNF331_ENST00000511593.2_Missense_Mutation_p.I180N	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CATCAAAAAATTCATACTGGG	0.413000			T	?	follicular thyroid adenoma								58	72					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111017	7111017	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:7111017C>A	ENST00000306904.5	+	1	853	c.666C>A	c.(664-666)agC>agA	p.S222R		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	222	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTACTCGAGCCGAGACTACC	0.706000													4	11					0.00024832	0.000259164	1	1	0
PHF20	51230	broad.mit.edu	37	20	34526929	34526929	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:34526929C>G	ENST00000374012.3	+	16	2740	c.2611C>G	c.(2611-2613)Ctc>Gtc	p.L871V	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	871					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGTCAACCCCCTCCATGAGAA	0.632000													4	72					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46712087	46712087	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:46712087G>C	ENST00000454366.1	+	7	1422	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	385					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGATGTTTCTGAGCTGGCAGC	0.672000													6	62					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84255758	84255758	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:84255758T>A	ENST00000405413.2	-	2	314	c.178A>T	c.(178-180)Acc>Tcc	p.T60S	HPSE_ENST00000512196.1_Missense_Mutation_p.T60S|HPSE_ENST00000513463.1_Missense_Mutation_p.T60S|HPSE_ENST00000311412.5_Missense_Mutation_p.T60S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	60					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GCGTCAATGGTGACGGACAGG	0.657000													4	7					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114401276	114401276	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:114401276C>G	ENST00000536312.1	-	6	1346	c.454G>C	c.(454-456)Gct>Cct	p.A152P	NXPE1_ENST00000251921.2_Missense_Mutation_p.A10P|NXPE1_ENST00000424269.1_Missense_Mutation_p.A152P					neurexophilin and PC-esterase domain family, member 1																		TTTCCTGAAGCACCTGCCGTC	0.577000													15	48					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75289361	75289361	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:75289361G>C	ENST00000319786.7	-	15	2980	c.2137C>G	c.(2137-2139)Ctg>Gtg	p.L713V	USP54_ENST00000339859.4_Intron|USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Intron|USP54_ENST00000497106.1_Intron|USP54_ENST00000394811.2_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	0					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTTGTCTCAGCCATGCCTGA	0.478000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	36					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46895103	46895103	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:46895103C>G	ENST00000378623.1	-	29	4513	c.4271G>C	c.(4270-4272)gGg>gCg	p.G1424A	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1424					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCCCTCGCCCGATCACTGT	0.577000													4	93					0	0	1	0	0
MAGIX	79917	broad.mit.edu	37	X	49022442	49022442	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:49022442C>G	ENST00000376338.3	+	4	611	c.532C>G	c.(532-534)Cct>Gct	p.P178A	MAGIX_ENST00000425661.2_Missense_Mutation_p.P161A|MAGIX_ENST00000412696.2_Missense_Mutation_p.P237A|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.P173A			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	237	PDZ.																CAGCCCAGATCCTGGAGGGCC	0.612000													5	85					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161400	29161400	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:29161400C>G	ENST00000321990.4	+	2	679	c.301C>G	c.(301-303)Cct>Gct	p.P101A	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	101					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTGTACGACACCTTTGGAAAT	0.343000													8	128					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	871403	871403	+	Splice_Site	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:871403C>T	ENST00000314167.4	-	16	1966	c.1856_splice	c.e16+1	p.R619_splice	GAK_ENST00000511163.1_Splice_Site_p.R540_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.R619P(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCACTCACCGCATCTTGTC	0.652000													3	39					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179399665	179399665	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:179399665G>C	ENST00000263966.3	+	2	639		c.e2-1		USP13_ENST00000482333.1_Splice_Site|USP13_ENST00000496897.1_Splice_Site	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)						ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTTTCTTCTAGAATTCTGAAG	0.428000													11	143					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589625	17589625	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:17589625G>C	ENST00000319363.6	+	13	1649	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	506	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	p.E506*(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTACTTCAGCGAGGTCAGCTG	0.627000													5	27					0	0	1	0	0
SOX1	6656	broad.mit.edu	37	13	112722289	112722289	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:112722289G>T	ENST00000330949.1	+	1	377	c.317G>T	c.(316-318)cGg>cTg	p.R106L		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	106					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GAGGCCAAGCGGCTGCGCGCG	0.637000													13	71					4.93089e-13	5.65672e-13	1	1	0
FBXO9	26268	broad.mit.edu	37	6	52960428	52960428	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:52960428A>G	ENST00000244426.6	+	11	1373	c.1201A>G	c.(1201-1203)Atc>Gtc	p.I401V	FBXO9_ENST00000370939.3_Missense_Mutation_p.I357V|FBXO9_ENST00000323557.7_Missense_Mutation_p.I391V	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	401						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					CAACAAACTCATCTGGATACA	0.378000													18	36					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82789630	82789630	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:82789630A>G	ENST00000265077.3	+	5	1193	c.628A>G	c.(628-630)Atc>Gtc	p.I210V	VCAN_ENST00000502527.2_Missense_Mutation_p.I210V|VCAN_ENST00000343200.5_Missense_Mutation_p.I210V|VCAN_ENST00000512590.2_Missense_Mutation_p.I162V|VCAN_ENST00000513984.1_Missense_Mutation_p.I210V|VCAN_ENST00000342785.4_Missense_Mutation_p.I210V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	210	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGATATCCCATCCGGGCTCC	0.478000													52	59					0	0	1	0	0
TMEM91	641649	broad.mit.edu	37	19	41888709	41888709	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:41888709G>C	ENST00000539627.1	+	3	564	c.243G>C	c.(241-243)tgG>tgC	p.W81C	TMEM91_ENST00000356385.4_Missense_Mutation_p.W81C|TMEM91_ENST00000542945.1_Missense_Mutation_p.W81C|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000436170.2_Missense_Mutation_p.W81C|TMEM91_ENST00000413014.2_Missense_Mutation_p.W81C|TMEM91_ENST00000604123.1_Missense_Mutation_p.W138C|TMEM91_ENST00000544232.1_Missense_Mutation_p.W81C|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Missense_Mutation_p.W81C|TMEM91_ENST00000392002.2_Missense_Mutation_p.W81C					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						ACTCGGACTGGGATGGAGGCA	0.577000													6	430					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59854900	59854900	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:59854900G>A	ENST00000256858.6	+	1	410	c.162G>A	c.(160-162)tcG>tcA	p.S54S	KIAA1468_ENST00000398130.2_Silent_p.S54S			Q9P260	K1468_HUMAN	KIAA1468	54							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CTGCGGGCTCGCTGTCGCCAC	0.687000													16	62					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74637193	74637193	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:74637193A>T	ENST00000253159.8	+	22	3902	c.3704A>T	c.(3703-3705)aAg>aTg	p.K1235M	ZNF236_ENST00000320610.9_Missense_Mutation_p.K1237M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1235					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTCCACGAAGGGAAGTCTG	0.567000													39	52					0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78188108	78188108	+	Missense_Mutation	SNP	C	C	G	rs141533664		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:78188108C>G	ENST00000326317.6	-	5	612	c.526G>C	c.(526-528)Gcc>Ccc	p.A176P	SGSH_ENST00000570923.1_Silent_p.S187S|SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000572208.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	176					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGTGGAAGGCGACGTAGAGG	0.642000													4	44					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416749	105416749	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:105416749G>C	ENST00000333244.5	-	7	5158	c.5039C>G	c.(5038-5040)tCg>tGg	p.S1680W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1680						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCACCGAGGCCTCGAT	0.587000													18	343					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98850228	98850228	+	RNA	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:98850228C>G	ENST00000554295.1	-	0	695					NR_033801.1																						CCTGAGATTTCCAATACGGAA	0.398000													4	42					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104070429	104070429	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:104070429T>A	ENST00000265148.3	-	27	3622	c.3533A>T	c.(3532-3534)gAa>gTa	p.E1178V	CENPE_ENST00000380026.3_Missense_Mutation_p.E1153V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1178					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTCTCTGTTTCCATATGTTC	0.303000													26	26					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236290	21236290	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:21236290C>G	ENST00000233242.1	-	25	4085	c.3958G>C	c.(3958-3960)Gcc>Ccc	p.A1320P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1320					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A1320S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGTGGAGGGCTGGTGTCCTA	0.438000													6	78					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826258	117826258	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:117826258C>G	ENST00000350763.4	-	12	3988	c.3577G>C	c.(3577-3579)Gag>Cag	p.E1193Q	TNC_ENST00000423613.2_Missense_Mutation_p.E1193Q|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.E1193Q|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1193	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAAAAGTACTCATAGGCCCCT	0.582000													19	141					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586299	20586299	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:20586299T>C	ENST00000315543.4	+	1	734	c.734T>C	c.(733-735)tTg>tCg	p.L245S		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTCATTATTTTGCTTATCTCC	0.428000													48	82					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220279318	220279318	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:220279318G>T	ENST00000366922.1	+	9	1267	c.936G>T	c.(934-936)atG>atT	p.M312I	IARS2_ENST00000302637.5_Missense_Mutation_p.M384I			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	384					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATGTGACCATGGCAAAAGGAA	0.463000													34	54					9.65021e-13	1.1053e-12	1	1	0
FUT3	2525	broad.mit.edu	37	19	5844778	5844778	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:5844778G>C	ENST00000303225.6	-	3	707	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V	FUT3_ENST00000589918.1_Missense_Mutation_p.L25V|FUT3_ENST00000458379.2_Missense_Mutation_p.L25V|FUT3_ENST00000589620.1_Missense_Mutation_p.L25V	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	25					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ACAGCCACCAGCAGCTGAAAT	0.612000													3	36					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95761098	95761098	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:95761098C>G	ENST00000416240.2	-	15	1741	c.1551G>C	c.(1549-1551)ggG>ggC	p.G517G	SLC25A13_ENST00000265631.5_Silent_p.G516G|SLC25A13_ENST00000542654.1_Silent_p.G408G	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	516					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGCTAACCTGCCCATCTTCAT	0.547000													3	39					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216211560	216211560	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:216211560C>G	ENST00000435675.1	+	13	1787	c.1396C>G	c.(1396-1398)Ctt>Gtt	p.L466V	ATIC_ENST00000236959.9_Missense_Mutation_p.L467V|ATIC_ENST00000540518.1_Missense_Mutation_p.L408V			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	467					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CTATTGGTGGCTTAGACACCA	0.458000			T	ALK	ALCL								21	92					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768893	140768893	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140768893C>G	ENST00000519479.1	+	1	1442	c.1442C>G	c.(1441-1443)cCc>cGc	p.P481R	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTTGGGGCCCAACGGCCAA	0.582000													14	111					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86123873	86123873	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:86123873C>G	ENST00000394518.2	+	7	2669	c.2574C>G	c.(2572-2574)caC>caG	p.H858Q	AKAP13_ENST00000361243.2_Missense_Mutation_p.H858Q	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	858					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.E855_G859>G(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCTTCAGCACGGGATGGGGA	0.562000													15	94					0	0	1	0	0
POLR2M	81488	broad.mit.edu	37	15	58004253	58004253	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:58004253G>T	ENST00000299638.3	+	3	1044	c.830G>T	c.(829-831)cGg>cTg	p.R277L	POLR2M_ENST00000380557.4_Missense_Mutation_p.R120L|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Missense_Mutation_p.R674L|GCOM1_ENST00000380569.2_Missense_Mutation_p.R459L|POLR2M_ENST00000380563.2_Missense_Mutation_p.R277L|GCOM1_ENST00000380568.3_Intron	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M																		TCAGAAGAGCGGCGGCGCAGG	0.468000													21	32					1.9806e-07	2.15819e-07	1	1	0
KLHL4	56062	broad.mit.edu	37	X	86919875	86919875	+	Missense_Mutation	SNP	C	C	A	rs150763346	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:86919875C>A	ENST00000373119.4	+	10	2182	c.2037C>A	c.(2035-2037)gaC>gaA	p.D679E	KLHL4_ENST00000373114.4_Missense_Mutation_p.D679E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	679						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GAGGATATGACGGACATACTT	0.403000													10	30					3.07112e-06	3.27677e-06	1	1	0
ATP8B2	57198	broad.mit.edu	37	1	154306600	154306600	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:154306600C>T	ENST00000368489.3	+	10	706	c.706C>T	c.(706-708)Cct>Tct	p.P236S	ATP8B2_ENST00000341822.2_Missense_Mutation_p.P222S|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.P203S	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	222					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATCTGTGAACCTCCCAACAA	0.463000													136	202					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767191	77767191	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:77767191G>C	ENST00000521891.2	+	10	8482	c.8034G>C	c.(8032-8034)ccG>ccC	p.P2678P	ZFHX4_ENST00000455469.2_Silent_p.P2633P|ZFHX4_ENST00000050961.6_Silent_p.P2633P|ZFHX4_ENST00000518282.1_Silent_p.P2652P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2633						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGGTGTCCGTTTTGCCGAG	0.542000										HNSCC(33;0.089)			7	103					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145580584	145580584	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:145580584G>T	ENST00000393045.2	+	7	974	c.884G>T	c.(883-885)cGg>cTg	p.R295L	PIAS3_ENST00000369298.1_Missense_Mutation_p.R260L|PIAS3_ENST00000369299.3_3'UTR	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	295					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGGGTATCCGGAACCCAGAC	0.512000													13	29					9.05144e-12	1.02688e-11	1	1	0
MST1L	11223	broad.mit.edu	37	1	17085003	17085003	+	RNA	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:17085003delC	ENST00000455405.2	-	0	185																											GCCCGGATGGCCCCCAGCCAC	0.607													14	112	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													7	251	---	---	---	---					
ACP6	51205	broad.mit.edu	37	1	147131637	147131637	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:147131637delC	ENST00000369238.5	-	3	800	c.353delG	c.(352-354)gcfs	p.G118fs	ACP6_ENST00000392988.2_Frame_Shift_Del_p.G118fs	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	118					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGCAAACATGCCCCCCTAAAG	0.498													18	30	---	---	---	---					
PBX1	5087	broad.mit.edu	37	1	164776830	164776830	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:164776830delT	ENST00000420696.2	+	5	941	c.753delT	c.(751-753)tafs	p.Y251fs	PBX1_ENST00000367897.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000540236.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000560641.1_Frame_Shift_Del_p.Y146fs|PBX1_ENST00000540246.1_Frame_Shift_Del_p.Y146fs|PBX1_ENST00000401534.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000559240.1_Frame_Shift_Del_p.Y251fs	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	251					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGAATGAATATTTCTATTCCC	0.433			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								37	159	---	---	---	---					
LINC01122	400955	broad.mit.edu	37	2	58689097	58689098	+	RNA	INS	-	-	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:58689097_58689098insA	ENST00000452840.1	+	0	195																											AAGGGTTGGAGAACGGCTCACT	0.455													55	81	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179486220	179486221	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179486220_179486221insA	ENST00000589042.1	-	245	45554_45555	c.45330_45331insT	c.(45328-45333)gagcaafs	p.EQ15110fs	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.EQ12542fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.EQ6237fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.EQ6045fs|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.EQ6170fs|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.EQ13469fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13469							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)			TTGACTTTGCCATCGGTTCGAG	0.391													22	35	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179577870	179577870	+	Frame_Shift_Del	DEL	T	T	-	rs61232800	by1000genomes	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179577870delT	ENST00000589042.1	-	93	27215	c.26991delA	c.(26989-26991)acfs	p.T8997fs	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.T7753fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.T8680fs|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8680	Ig-like 73.						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)			TAGCTATACATGTGTAGTCAC	0.388													16	39	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176707798	176707798	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:176707798delG	ENST00000439151.2	+	18	5900	c.5855delG	c.(5854-5856)cgfs	p.R1952fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.R1849fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.R1683fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.R1683fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1952	S-adenosyl-L-methionine binding.|SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACATTACAGCGGGGTTGGGGT	0.453			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			30	52	---	---	---	---					
MRPL2	51069	broad.mit.edu	37	6	43023334	43023335	+	In_Frame_Ins	INS	-	-	CGCAGT			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:43023334_43023335insCGCAGT	ENST00000388752.3	-	6	1077_1078	c.653_654insACTGCG	c.(652-654)caa>cACTGCGaa	p.218_218Q>HCE	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	218					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CATTCACCTTCCGCAGTAGCAC	0.545													14	74	---	---	---	---					
MCM3	4172	broad.mit.edu	37	6	52141929	52141929	+	Frame_Shift_Del	DEL	G	G	-	rs77113422	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:52141929delG	ENST00000596288.1	-	8	1263	c.1236delC	c.(1234-1236)ccfs	p.P412fs	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Frame_Shift_Del_p.P321fs|MCM3_ENST00000229854.7_Frame_Shift_Del_p.P367fs	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	367	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGCCAGTGGTGGGGATAGCTC	0.602													24	34	---	---	---	---					
THSD7A	221981	broad.mit.edu	37	7	11871470	11871481	+	In_Frame_Del	DEL	GCAGCGGCAGCG	GCAGCGGCAGCG	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:11871470_11871481delGCAGCGGCAGCG	ENST00000423059.3	-	1	343_354	c.92_103delCGCTGCCGCTGC	c.(91-105)ctc>c	p.PLPLL31del		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	31						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		agcagcaggagcagcggcagcggcagcggcag	0.774										HNSCC(18;0.044)			5	11	---	---	---	---					
PRSS1	5644	broad.mit.edu	37	7	142460328	142460328	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:142460328delC	ENST00000486171.1	+	5	560	c.543delC	c.(541-543)agfs	p.S181fs	PRSS1_ENST00000311737.7_Frame_Shift_Del_p.S167fs			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	167	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTGTGCTGAGCCAGGCTAAGT	0.527													52	324	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)del	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													8	238	---	---	---	---					
ZNF239	8187	broad.mit.edu	37	10	44052660	44052661	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:44052660_44052661insT	ENST00000306006.6	-	2	1519_1520	c.867_868insA	c.(865-870)aacttafs	p.N289fs	ZNF239_ENST00000535642.1_Frame_Shift_Ins_p.N289fs|ZNF239_ENST00000374446.2_Frame_Shift_Ins_p.N289fs|ZNF239_ENST00000426961.1_Frame_Shift_Ins_p.N289fs	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATTTATAAGGTTTTTCGCCTG	0.500													49	121	---	---	---	---					
KNDC1	85442	broad.mit.edu	37	10	135009308	135009308	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:135009308delG	ENST00000304613.3	+	10	1738	c.1717delG	c.(1717-1719)cgfs	p.A574fs	KNDC1_ENST00000368571.2_Frame_Shift_Del_p.A509fs|KNDC1_ENST00000368572.2_Frame_Shift_Del_p.A574fs			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	574	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCGGCCGTCCGCGGCTGAGGC	0.687													2	4	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	-	G	rs140721287	by1000genomes	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:1031058_1031059insG	ENST00000421673.2	-	6	625		c.e6-2			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													3	4	---	---	---	---					
AKIP1	56672	broad.mit.edu	37	11	8933164	8933165	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:8933164_8933165insC	ENST00000529876.1	+	1	429_430	c.168_169insC	c.(166-171)gccccafs	p.AP56fs	AKIP1_ENST00000534147.1_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000534506.1_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000396648.2_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000299576.5_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000309377.4_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000525005.1_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000309357.4_Frame_Shift_Ins_p.AP56fs			Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	56						nucleus	protein binding			kidney(1)|large_intestine(2)|lung(2)	5						CCCGGGAGGCGCCCCACCTAGA	0.718													7	14	---	---	---	---					
OR5D13	390142	broad.mit.edu	37	11	55541039	55541039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55541039delG	ENST00000361760.1	+	1	126	c.126delG	c.(124-126)gtfs	p.V42fs		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCACTGTAGTGGGGAACTTGG	0.403													38	83	---	---	---	---					
TMPRSS4-AS1	100526771	broad.mit.edu	37	11	117908496	117908496	+	RNA	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:117908496delC	ENST00000606951.1	-	0	195				TMPRSS4-AS1_ENST00000527329.1_RNA|TMPRSS4-AS1_ENST00000527695.1_RNA	NR_038318.1																						agtacctagtccgcctagtac	0.473													46	74	---	---	---	---					
FRY	10129	broad.mit.edu	37	13	32839624	32839625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:32839624_32839625insT	ENST00000380250.3	+	54	8313_8314	c.7817_7818insT	c.(7816-7818)cgafs	p.R2606fs	FRY_ENST00000542859.1_5'UTR	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCACCGTGCATGAGGATGATC	0.460													27	43	---	---	---	---					
SEMA6D	80031	broad.mit.edu	37	15	48063436	48063436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:48063436delC	ENST00000316364.5	+	19	3115	c.2676delC	c.(2674-2676)aafs	p.N892fs	SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.N817fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.N849fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.N836fs|SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.N892fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.N873fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	892					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAATAGTAACCCCAAAGCCA	0.488													12	102	---	---	---	---					
CYP1A1	1543	broad.mit.edu	37	15	75013017	75013029	+	Frame_Shift_Del	DEL	CCAAAGATAATCA	CCAAAGATAATCA	-	rs72547509		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:75013017_75013029delCCAAAGATAATCA	ENST00000379727.3	-	7	1538_1550	c.1340_1352delTGATTATCTTTGG	c.(1339-1353)gcfs	p.VIIFG447fs	CYP1A1_ENST00000395049.4_Frame_Shift_Del_p.VIIFG418fs|CYP1A1_ENST00000395048.2_Frame_Shift_Del_p.VIIFG447fs|CYP1A1_ENST00000567032.1_Frame_Shift_Del_p.VIIFG447fs			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	447					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CTTGCCCATGCCAAAGATAATCACCTTCTCACT	0.531									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				23	116	---	---	---	---					
PAGR1	79447	broad.mit.edu	37	16	29828555	29828555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:29828555delT	ENST00000320330.6	+	2	1069	c.507delT	c.(505-507)gafs	p.D169fs	AC009133.20_ENST00000569039.1_RNA	NM_024516.3	NP_078792.1			PAXIP1 associated glutamate-rich protein 1																		CGGAATTTGATTTTGATGATG	0.567											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	25	---	---	---	---					
CLUH	23277	broad.mit.edu	37	17	2595665	2595673	+	In_Frame_Del	DEL	CCTTGAGGG	CCTTGAGGG	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:2595665_2595673delCCTTGAGGG	ENST00000570628.1	-	22	3530_3538	c.3425_3433delCCCTCAAGG	c.(3424-3435)gtg>g	p.ALKV1142del	CLUH_ENST00000538975.1_In_Frame_Del_p.ALKV1142del|CLUH_ENST00000435359.1_In_Frame_Del_p.ALKV1142del|CLUH_ENST00000575014.1_In_Frame_Del_p.ALKV1075del					clustered mitochondria (cluA/CLU1) homolog																		CTGAGGGCCACCTTGAGGGCCTTGGGCCC	0.699													4	6	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56060673	56060674	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:56060673_56060674insG	ENST00000584396.1	-	2	175_176	c.87_88insC	c.(85-90)ccatcafs	p.S30fs	VEZF1_ENST00000581208.1_Frame_Shift_Ins_p.S39fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	39					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGTTTCTGATCAGGGGGCTCCA	0.475													50	124	---	---	---	---					
ASNA1	439	broad.mit.edu	37	19	12848341	12848342	+	Frame_Shift_Ins	INS	-	-	G	rs138730527	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:12848341_12848342insG	ENST00000591090.1	+	2	124_125	c.22_23insG	c.(22-24)gggfs	p.G8fs	ASNA1_ENST00000357332.3_Frame_Shift_Ins_p.G8fs			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	8					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	p.W8G(1)		endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	GGTGGCCGGGTGGGGGGTTGAG	0.569													10	12	---	---	---	---					
KRTAP6-1	337966	broad.mit.edu	37	21	31986109	31986110	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:31986109_31986110delCA	ENST00000329122.2	-	1	139_140	c.114_115delTG	c.(112-117)tggcfs	p.CG40fs		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	40						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						AAGCCACAGCCACAGCAGGAGC	0.589													82	124	---	---	---	---					
FAM19A5	25817	broad.mit.edu	37	22	49103578	49103578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:49103578delG	ENST00000358295.5	+	3	466	c.291delG	c.(289-291)gafs	p.E97fs	FAM19A5_ENST00000402357.1_Frame_Shift_Del_p.E104fs|FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000406880.1_Frame_Shift_Del_p.E25fs	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	104						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGTGTCTGGAGGGGGAAGGCT	0.562													30	66	---	---	---	---					
MAP2K4P1	139201	broad.mit.edu	37	X	72745220	72745220	+	RNA	DEL	T	T	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:72745220delT	ENST00000602584.1	-	0	1429					NR_029423.1																						GTCTTGGCAATAGAGTCCACA	0.423													12	19	---	---	---	---