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
CLDN18	51208	broad.mit.edu	37	3	137742593	137742593	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:137742593G>A	ENST00000183605.5	+	2	540	c.314G>A	c.(313-315)cGc>cAc	p.R105H	CLDN18_ENST00000343735.4_Missense_Mutation_p.R105H	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	105					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.R105H(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						AAATGCATCCGCATTGGCAGC	0.557000													17	41					0	0	0.033300	0	0
AMOTL1	154810	broad.mit.edu	37	11	94532826	94532826	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:94532826G>A	ENST00000433060.2	+	3	611	c.470G>A	c.(469-471)cGc>cAc	p.R157H	AMOTL1_ENST00000317829.8_Missense_Mutation_p.R107H|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R157H	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	157						cytoplasm|tight junction	identical protein binding	p.R157H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGTCAGCACGCCAAGAACCG	0.547000													5	18					0	0	0.014758	0	0
HTR1E	3354	broad.mit.edu	37	6	87726029	87726029	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:87726029C>A	ENST00000305344.4	+	2	1680	c.977C>A	c.(976-978)gCc>gAc	p.A326D	HTR1E_ENST00000369584.1_Missense_Mutation_p.A326D	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	326					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.A326D(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCGGAAGTGGCCGACTTTCTG	0.448000													59	83					6.26901e-30	1.05763e-29	0.014410	1	0
MUC16	94025	broad.mit.edu	37	19	9046894	9046894	+	Silent	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:9046894A>G	ENST00000397910.4	-	5	34940	c.34737T>C	c.(34735-34737)acT>acC	p.T11579T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11581	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7212T(1)|p.T11579T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAGGATGAGTGAGCCACG	0.522000													3	34					0	0	0.004672	0	0
CCNB1	891	broad.mit.edu	37	5	68467140	68467140	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:68467140C>A	ENST00000256442.5	+	4	660	c.407C>A	c.(406-408)gCc>gAc	p.A136D		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	136					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		p.A136V(1)|p.A136D(1)		large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCTGGATGTGCCCCTGCAGAA	0.423000													7	88					8.12818e-05	9.33236e-05	0.029380	1	0
CDKN2D	1032	broad.mit.edu	37	19	10677830	10677830	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:10677830C>G	ENST00000393599.2	-	2	729	c.405G>C	c.(403-405)agG>agC	p.R135S	CDKN2D_ENST00000335766.2_Missense_Mutation_p.R135S	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	135					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.R135S(1)		endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCCTGGCGTCCCTGCGATGGA	0.612000													8	78					0	0	0.004482	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654799	31654799	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr21:31654799C>G	ENST00000340345.4	-	1	477	c.452G>C	c.(451-453)tGc>tCc	p.C151S		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	151						keratin filament	structural molecule activity	p.C151S(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TTGTCCAAAGCAGTTGGAACC	0.458000													49	98					0	0	0.014410	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682317	44682317	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr20:44682317G>A	ENST00000454036.1	+	20	2793	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R883H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	906					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.R883H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TATCATTTACGCATCACTGCG	0.547000													7	83					0	0	0.038147	0	0
C12orf5	57103	broad.mit.edu	37	12	4459029	4459029	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:4459029G>T	ENST00000179259.4	+	4	304	c.237G>T	c.(235-237)atG>atT	p.M79I	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	79						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	p.M79I(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GCAAAGATATGACGGTAAAGT	0.348000													11	87					4.36969e-10	5.88958e-10	0.016723	1	0
SOHLH1	402381	broad.mit.edu	37	9	138590880	138590880	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr9:138590880G>T	ENST00000298466.5	-	2	218	c.158C>A	c.(157-159)tCc>tAc	p.S53Y	SOHLH1_ENST00000425225.1_Missense_Mutation_p.S53Y	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	53					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.S53Y(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CCGAAGGCAGGAGCTGGGACC	0.701000													14	31					4.3838e-07	5.35558e-07	0.016723	1	0
ARSF	416	broad.mit.edu	37	X	3007540	3007540	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:3007540C>A	ENST00000381127.1	+	7	1055	c.834C>A	c.(832-834)caC>caA	p.H278Q	ARSF_ENST00000537104.1_Missense_Mutation_p.H278Q|ARSF_ENST00000359361.2_Missense_Mutation_p.H278Q	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	278						extracellular region	arylsulfatase activity|metal ion binding	p.H278Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCTCAGGCACAGTAAGGAAA	0.428000													27	103					1.68575e-08	2.15499e-08	0.034045	1	0
GATAD2B	57459	broad.mit.edu	37	1	153790562	153790562	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:153790562C>A	ENST00000368655.4	-	5	926	c.683G>T	c.(682-684)cGg>cTg	p.R228L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	228						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R228L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCCCAGGCCGAGAGGGAAG	0.517000													42	170					3.61848e-18	5.57381e-18	0.030466	1	0
PRKD1	5587	broad.mit.edu	37	14	30100003	30100003	+	Silent	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr14:30100003G>A	ENST00000331968.5	-	10	1846	c.1617C>T	c.(1615-1617)gcC>gcT	p.A539A	PRKD1_ENST00000415220.2_Silent_p.A547A	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	539	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.A539A(2)		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)		CGGGCATAAGGGCATGCTGGA	0.537000													7	109					0	0	0.029380	0	0
OR52H1	390067	broad.mit.edu	37	11	5565818	5565818	+	Silent	SNP	T	T	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:5565818T>A	ENST00000322653.4	-	1	961	c.936A>T	c.(934-936)atA>atT	p.I312I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I312I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAACAAAAGTATAACCTTAT	0.388000													16	50					0	0	0.033300	0	0
RASAL2	9462	broad.mit.edu	37	1	178421741	178421741	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:178421741C>G	ENST00000448150.3	+	11	2727	c.1909C>G	c.(1909-1911)Cta>Gta	p.L637V	RASAL2_ENST00000367649.3_Missense_Mutation_p.L655V|RASAL2_ENST00000462775.1_Missense_Mutation_p.L507V	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	507					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.L507V(1)|p.L655V(1)|p.L637V(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATCTCGGACTCTAACTCTTAT	0.423000													7	178					0	0	0.004482	0	0
CPN1	1369	broad.mit.edu	37	10	101814132	101814132	+	Silent	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr10:101814132G>T	ENST00000370418.3	-	7	1334	c.1083C>A	c.(1081-1083)gtC>gtA	p.V361V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	361					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.V361V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TAATCCCACTGACAGAAATGA	0.448000													15	73					1.15088e-07	1.43426e-07	0.028581	1	0
FBN2	2201	broad.mit.edu	37	5	127599195	127599195	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:127599195G>T	ENST00000508053.1	-	69	9088	c.8114C>A	c.(8113-8115)cCc>cAc	p.P2705H	FBN2_ENST00000262464.4_Missense_Mutation_p.P2705H			P35556	FBN2_HUMAN	fibrillin 2	2705	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P2705H(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTAATTGCAGGGGTTCTTGGA	0.612000													19	132					1.00905e-13	1.47202e-13	0.008871	1	0
TMEM105	284186	broad.mit.edu	37	17	79287682	79287682	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:79287682C>A	ENST00000332900.1	-	3	708	c.159G>T	c.(157-159)agG>agT	p.R53S		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	53						integral to membrane		p.R53S(1)		NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GGGGAGACGTCCTCGGGCCCT	0.607000													35	66					2.87052e-16	4.34079e-16	0.023175	1	0
MSMB	4477	broad.mit.edu	37	10	51562320	51562320	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr10:51562320A>T	ENST00000358559.2	+	4	352	c.265A>T	c.(265-267)Aag>Tag	p.K89*	MSMB_ENST00000298239.6_Silent_p.S53S	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	89						extracellular space|nucleus		p.K89*(1)		lung(4)|ovary(2)|prostate(1)	7						AAGAATCTTCAAGAAGGAGGA	0.448000													25	148					0	0	0.018920	0	0
KCTD14	65987	broad.mit.edu	37	11	77728273	77728273	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:77728273G>C	ENST00000353172.5	-	2	178	c.134C>G	c.(133-135)aCc>aGc	p.T45S	KCTD14_ENST00000533144.1_Missense_Mutation_p.T15S|NDUFC2-KCTD14_ENST00000528251.1_3'UTR|NDUFC2-KCTD14_ENST00000530054.1_3'UTR	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	45	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T45S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			CAGGGTGGTGGTGTGGAACTC	0.582000													20	34					0	0	0.010504	0	0
AP3D1	8943	broad.mit.edu	37	19	2115341	2115341	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:2115341C>T	ENST00000355272.6	-	20	2432	c.2226G>A	c.(2224-2226)agG>agA	p.R742R	AP3D1_ENST00000350812.6_Silent_p.R573R|AP3D1_ENST00000345016.5_Silent_p.R742R|AP3D1_ENST00000356926.4_Silent_p.R651R	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	742					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	p.R742R(1)		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)		tctttttcctcctcttgtcct	0.642000													9	65					0	0	0.013537	0	0
ARID2	196528	broad.mit.edu	37	12	46243560	46243560	+	Splice_Site	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:46243560G>T	ENST00000334344.6	+	14	2084		c.e14+1		ARID2_ENST00000444670.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCACCTGCAGGTGTTAATTTT	0.313000			"""N, S, F"""		hepatocellular carcinoma								14	128					9.31168e-06	1.09967e-05	0.016723	1	0
PROS1	5627	broad.mit.edu	37	3	93593234	93593234	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:93593234G>A	ENST00000394236.3	-	15	2202	c.1886C>T	c.(1885-1887)gCc>gTc	p.A629V	PROS1_ENST00000407433.1_Missense_Mutation_p.A498V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	629	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.A629V(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CACTGGTGTGGCACTGAATGG	0.353000													5	49					0	0	0.014758	0	0
IKZF2	22807	broad.mit.edu	37	2	213872367	213872367	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:213872367C>A	ENST00000457361.1	-	8	1466	c.1298G>T	c.(1297-1299)aGc>aTc	p.S433I	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.S288I|IKZF2_ENST00000451136.2_Missense_Mutation_p.S361I|IKZF2_ENST00000374319.4_Missense_Mutation_p.S407I|IKZF2_ENST00000342002.2_Missense_Mutation_p.S439I|IKZF2_ENST00000421754.2_Missense_Mutation_p.S359I|IKZF2_ENST00000434687.1_Missense_Mutation_p.S433I	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S433I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTAAGCTGGGCTTTGTTTCCT	0.493000													25	273					3.28513e-13	4.76439e-13	0.021523	1	0
UGT2B7	7364	broad.mit.edu	37	4	69978338	69978338	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr4:69978338G>A	ENST00000305231.7	+	6	1520	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	492					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.D492N(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCACTCTTTGGATGTGATTGG	0.458000													17	138					0	0	0.033300	0	0
TRPV6	55503	broad.mit.edu	37	7	142583208	142583208	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:142583208C>T	ENST00000359396.3	-	1	299	c.54G>A	c.(52-54)aaG>aaA	p.K18K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	18					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.K18K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCTGCAGAACTTGCTCCATA	0.612000													16	139					0	0	0.028581	0	0
TRPS1	7227	broad.mit.edu	37	8	116631634	116631634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr8:116631634C>A	ENST00000395715.3	-	3	1268	c.691G>T	c.(691-693)Gag>Tag	p.E231*	TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E218*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E172*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E218*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E222*	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	218					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E218*(1)|p.E231*(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCCTGAAGCTCTGGAGACAGA	0.453000									Langer-Giedion syndrome				41	76					1.5731e-28	2.61832e-28	0.042209	1	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	42					0	0	0.009096	0	0
CHD5	26038	broad.mit.edu	37	1	6188908	6188908	+	Silent	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:6188908G>A	ENST00000262450.3	-	23	3708	c.3609C>T	c.(3607-3609)gaC>gaT	p.D1203D	CHD5_ENST00000378021.1_Silent_p.D60D	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1203					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.D1203D(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTCCACGTCGTCCTTGAAGA	0.672000													16	28					0	0	0.038395	0	0
EPHA7	2045	broad.mit.edu	37	6	94066483	94066483	+	Silent	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:94066483G>T	ENST00000369303.4	-	5	1460	c.1276C>A	c.(1276-1278)Cga>Aga	p.R426R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	426	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R426*(1)|p.R426R(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCTGGGATCGGCTTAAGTCA	0.418000													27	29					3.80469e-20	5.97193e-20	0.041601	1	0
HSPH1	10808	broad.mit.edu	37	13	31719733	31719733	+	Silent	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr13:31719733C>A	ENST00000320027.5	-	11	1895	c.1551G>T	c.(1549-1551)ctG>ctT	p.L517L	HSPH1_ENST00000429785.2_Silent_p.L336L|HSPH1_ENST00000380406.5_Silent_p.L476L|HSPH1_ENST00000445273.2_Silent_p.L519L|HSPH1_ENST00000380405.4_Silent_p.L517L	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	517					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.L517L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GTCTCTGATTCAGACACTCCA	0.423000													6	42					0.00116845	0.00128789	0.021553	1	0
KLHL24	54800	broad.mit.edu	37	3	183397003	183397003	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:183397003A>G	ENST00000454652.1	+	9	2118	c.1732A>G	c.(1732-1734)Atg>Gtg	p.M578V	KLHL24_ENST00000242810.6_Missense_Mutation_p.M578V			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	578						axon|cytoplasm|perikaryon		p.M578V(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GGTAGCTGCAATGCCCAGGCC	0.443000													28	62					0	0	0.037714	0	0
AP3D1	8943	broad.mit.edu	37	19	2114283	2114283	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:2114283C>T	ENST00000355272.6	-	22	2648	c.2442G>A	c.(2440-2442)gaG>gaA	p.E814E	AP3D1_ENST00000350812.6_Silent_p.E645E|AP3D1_ENST00000345016.5_Silent_p.E814E|AP3D1_ENST00000356926.4_Silent_p.E723E	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	814					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	p.E814E(1)		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)		TAGGCAGTTTCTCGCTGTCGG	0.537000													12	41					0	0	0.020292	0	0
CSMD1	64478	broad.mit.edu	37	8	2823383	2823383	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr8:2823383G>T	ENST00000520002.1	-	60	9752	c.9197C>A	c.(9196-9198)cCa>cAa	p.P3066Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.P3065Q|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.P3066Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3066	Sushi 24.					integral to membrane		p.P2794Q(1)|p.P3065Q(1)		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)		GACATAGCCTGGGTTACACTG	0.483000													9	4					4.68919e-08	5.90314e-08	0.008291	1	0
OR2M3	127062	broad.mit.edu	37	1	248366562	248366562	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:248366562C>A	ENST00000456743.1	+	1	231	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q65K(1)		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)			CCTCCTCAGCCAACTGTCCCT	0.547000													75	331					9.35569e-46	1.64554e-45	0.014410	1	0
GATM	2628	broad.mit.edu	37	15	45661562	45661562	+	Missense_Mutation	SNP	C	C	A	rs80338737		TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr15:45661562C>A	ENST00000396659.3	-	3	785	c.446G>T	c.(445-447)tGg>tTg	p.W149L	GATM_ENST00000558336.1_Missense_Mutation_p.W149L	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	149					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	p.W149L(1)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CTTCAATGACCAGTCAATGGG	0.373000													24	96					7.41945e-09	9.63363e-09	0.027356	1	0
MYH2	4620	broad.mit.edu	37	17	10429087	10429087	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:10429087C>G	ENST00000245503.5	-	31	4678	c.4294G>C	c.(4294-4296)Gag>Cag	p.E1432Q	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1432Q|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1432					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1432Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGAGGTCCTCGACCTCATTC	0.542000													43	56					0	0	0.042209	0	0
POU3F4	5456	broad.mit.edu	37	X	82763714	82763714	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:82763714G>T	ENST00000373200.2	+	1	446	c.382G>T	c.(382-384)Ggc>Tgc	p.G128C	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	128					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.G128C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CACGTCAAGCGGCCAACCCCT	0.667000													10	10					9.70103e-10	1.29347e-09	0.008291	1	0
C10orf68	79741	broad.mit.edu	37	10	33137562	33137562	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr10:33137562C>T	ENST00000375030.2	+	20	2035	c.1417C>T	c.(1417-1419)Cgt>Tgt	p.R473C	C10orf68_ENST00000375025.4_Missense_Mutation_p.R578C|C10orf68_ENST00000375028.3_Missense_Mutation_p.R518C			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	514								p.R514C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GTCCGTACAACGTCAAGAAGG	0.294000													10	80					0	0	0.010729	0	0
ZNF217	7764	broad.mit.edu	37	20	52193560	52193560	+	Silent	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr20:52193560A>G	ENST00000371471.2	-	4	2168	c.1743T>C	c.(1741-1743)tcT>tcC	p.S581S	ZNF217_ENST00000302342.3_Silent_p.S581S			O75362	ZN217_HUMAN	zinc finger protein 217	581					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.S581S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCTGAAAAACAGAAGGCATCT	0.443000													41	76					0	0	0.025465	0	0
TBX5	6910	broad.mit.edu	37	12	114837318	114837318	+	Splice_Site	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:114837318C>T	ENST00000310346.4	-	4	1028	c.362_splice	c.e4+1	p.W121_splice	TBX5_ENST00000349716.5_Splice_Site_p.W71_splice|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Splice_Site_p.W121_splice|TBX5_ENST00000526441.1_Splice_Site_p.W121_splice	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	121					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.W121*(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAGTGCCTACCATTTATTATC	0.423000													21	123					0	0	0.018920	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46012274	46012274	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr21:46012274G>T	ENST00000400368.1	-	1	112	c.92C>A	c.(91-93)tCc>tAc	p.S31Y	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	31						keratin filament		p.S31Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACCTGCCAGGAGTCGGAGCA	0.682000													5	27					8.12818e-05	9.33236e-05	0.029380	1	0
CR1	1378	broad.mit.edu	37	1	207741262	207741262	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:207741262C>A	ENST00000367049.4	+	25	4046	c.4046C>A	c.(4045-4047)aCa>aAa	p.T1349K	CR1_ENST00000367051.1_Missense_Mutation_p.T899K|CR1_ENST00000367053.1_Missense_Mutation_p.T899K|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.T899K|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	899	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.T904K(1)|p.T1349K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTAAATTACACATGCGACCCC	0.498000													73	159					2.40041e-21	3.89086e-21	0.014410	1	0
PLP2	5355	broad.mit.edu	37	X	49029519	49029519	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:49029519C>A	ENST00000376327.5	+	2	215	c.140C>A	c.(139-141)cCa>cAa	p.P47Q	PLP2_ENST00000376322.3_Missense_Mutation_p.P47Q	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	47	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	p.P47Q(1)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GCCTCCACACCAGGCTACTCC	0.493000													9	33					2.17888e-05	2.53691e-05	0.006214	1	0
RSPH6A	81492	broad.mit.edu	37	19	46307742	46307742	+	Missense_Mutation	SNP	G	G	A	rs76423334	byFrequency	TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:46307742G>A	ENST00000221538.3	-	3	1563	c.1421C>T	c.(1420-1422)cCg>cTg	p.P474L	RSPH6A_ENST00000597055.1_Missense_Mutation_p.P474L|RSPH6A_ENST00000600188.1_Missense_Mutation_p.P210L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	474						intracellular		p.P474L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTCGTTGCCCGGGAAGGGTGG	0.632000													4	53					0	0	0.014758	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805301	75805301	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:75805301A>T	ENST00000370855.5	-	4	180	c.67T>A	c.(67-69)Tat>Aat	p.Y23N	SLC44A5_ENST00000370859.3_Missense_Mutation_p.Y23N|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	23						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.Y23N(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCTGGGTCATATGTCCTTGGA	0.343000													165	306					0	0	0.014410	0	0
ALG10B	144245	broad.mit.edu	37	12	38714267	38714267	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:38714267G>T	ENST00000308742.4	+	3	990	c.674G>T	c.(673-675)gGa>gTa	p.G225V	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	225					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.G225V(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCTATTAAAGGACCATTTGCA	0.393000													21	111					3.65163e-15	5.48851e-15	0.030593	1	0
BAI2	576	broad.mit.edu	37	1	32198202	32198202	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:32198202C>T	ENST00000373658.3	-	27	3977	c.3636G>A	c.(3634-3636)gtG>gtA	p.V1212V	BAI2_ENST00000398542.1_Silent_p.V1112V|BAI2_ENST00000398547.1_Silent_p.V1145V|BAI2_ENST00000257070.4_Silent_p.V1179V|BAI2_ENST00000527361.1_Silent_p.V1179V|BAI2_ENST00000440175.2_Silent_p.V821V|BAI2_ENST00000398556.3_Silent_p.V1127V|BAI2_ENST00000373655.2_Silent_p.V1212V|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Silent_p.V1200V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1212					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V1212V(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGCACTTCACCACATCCTGGA	0.652000													5	29					0	0	0.014758	0	0
RSRC1	51319	broad.mit.edu	37	3	158261251	158261251	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:158261251A>G	ENST00000464171.1	+	8	838	c.713A>G	c.(712-714)gAt>gGt	p.D238G	RSRC1_ENST00000312179.6_Missense_Mutation_p.D238G|RSRC1_ENST00000475278.2_Intron|RSRC1_ENST00000295930.3_Missense_Mutation_p.D296G|RSRC1_ENST00000480820.1_Missense_Mutation_p.D296G	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	296					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	p.D296G(1)		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)			AAGTACCAAGATGACAATTCC	0.388000													28	117					0	0	0.045705	0	0
USH2A	7399	broad.mit.edu	37	1	216108066	216108066	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:216108066G>A	ENST00000366943.2	-	38	7578	c.7192C>T	c.(7192-7194)Ctc>Ttc	p.L2398F	USH2A_ENST00000307340.3_Missense_Mutation_p.L2398F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2398	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L2398F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCATCGATGAGCACCCAAAGG	0.363000										HNSCC(13;0.011)			73	92					0	0	0.014410	0	0
TTC6	319089	broad.mit.edu	37	14	38266098	38266098	+	Silent	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr14:38266098G>A	ENST00000553443.1	+	20	3975	c.3975G>A	c.(3973-3975)gaG>gaA	p.E1325E	TTC6_ENST00000476979.1_Silent_p.E56E|TTC6_ENST00000267368.7_Silent_p.E56E|TTC6_ENST00000554555.1_3'UTR|TTC6_ENST00000382320.3_Silent_p.E39E					tetratricopeptide repeat domain 6									p.E56E(1)|p.E1325E(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		ATAGAGCTGAGATGACCATGT	0.408000													10	127					0	0	0.008291	0	0
IKZF1	10320	broad.mit.edu	37	7	50468246	50468246	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:50468246T>A	ENST00000331340.3	+	8	1636	c.1481T>A	c.(1480-1482)aTg>aAg	p.M494K	IKZF1_ENST00000357364.4_Missense_Mutation_p.M407K|IKZF1_ENST00000343574.5_Missense_Mutation_p.M407K|IKZF1_ENST00000359197.5_Missense_Mutation_p.M452K|IKZF1_ENST00000439701.1_Missense_Mutation_p.M452K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Missense_Mutation_p.M264K|IKZF1_ENST00000349824.4_Missense_Mutation_p.M351K|IKZF1_ENST00000438033.1_Missense_Mutation_p.M407K	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	494					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)|p.M494K(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAGTGCAACATGTGCGGCTAC	0.602000			"""D,T"""	BCL6	"""ALL, DLBCL"""								3	30					0	0	0.004672	0	0
CLPSL1	340204	broad.mit.edu	37	6	35755685	35755685	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:35755685C>A	ENST00000373861.5	+	3	358	c.264C>A	c.(262-264)aaC>aaA	p.N88K	CLPSL1_ENST00000542261.1_Missense_Mutation_p.N87K			A2RUU4	CF127_HUMAN	colipase-like 1	88					digestion|lipid catabolic process	extracellular region	enzyme activator activity	p.N88K(1)									GCCTGCGGAACCTGACTTGTA	0.483000													33	58					4.31634e-10	5.84946e-10	0.012213	1	0
ITGA8	8516	broad.mit.edu	37	10	15646211	15646211	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr10:15646211T>C	ENST00000378076.3	-	20	2467	c.2114A>G	c.(2113-2115)aAc>aGc	p.N705S	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	705					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.N705S(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATTACCTTGTTGTTGCGTTC	0.378000													24	111					0	0	0.018920	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479393	55479393	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:55479393G>A	ENST00000342972.1	+	1	856	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	196	MAGE.				apoptosis			p.D196N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						TTGTAATTATGACTGGGATTC	0.522000													11	77					0	0	0.010729	0	0
SFMBT2	57713	broad.mit.edu	37	10	7423846	7423846	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr10:7423846C>A	ENST00000361972.4	-	2	105	c.15G>T	c.(13-15)ttG>ttT	p.L5F	SFMBT2_ENST00000397160.3_Missense_Mutation_p.L5F|SFMBT2_ENST00000379711.2_Missense_Mutation_p.L5F|SFMBT2_ENST00000397167.1_Missense_Mutation_p.L5F|SFMBT2_ENST00000379713.3_Missense_Mutation_p.L5F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	5					regulation of transcription, DNA-dependent	nucleus		p.L5F(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGAAGCTGACAAAGTGCTCT	0.398000													12	45					0.000151284	0.000172897	0.016723	1	0
FXYD7	53822	broad.mit.edu	37	19	35642229	35642229	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:35642229T>G	ENST00000270310.2	+	3	218	c.134T>G	c.(133-135)aTc>aGc	p.I45S	CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000588265.1_Missense_Mutation_p.I45S|FXYD7_ENST00000586063.1_Missense_Mutation_p.I45S	NM_022006.1	NP_071289.1	P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	45						integral to membrane	ion channel activity	p.I45S(1)|p.I45T(1)		NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCATCGTCATCAGTAAGTGC	0.542000													10	105					0	0	0.013537	0	0
MUC17	140453	broad.mit.edu	37	7	100682069	100682069	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:100682069T>A	ENST00000306151.4	+	3	7436	c.7372T>A	c.(7372-7374)Tta>Ata	p.L2458I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2458	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L2458I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACCACTCCGTTAGCAAGTAT	0.532000													32	207					0	0	0.041601	0	0
MTM1	4534	broad.mit.edu	37	X	149828153	149828153	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:149828153A>T	ENST00000370396.2	+	12	1331	c.1277A>T	c.(1276-1278)gAt>gTt	p.D426V	MTM1_ENST00000413012.2_Missense_Mutation_p.D389V|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.D311V|MTM1_ENST00000542741.1_Missense_Mutation_p.D331V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	426	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.D426V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCATGGTGATAAAAACCAC	0.333000													6	69					0	0	0.029380	0	0
ELK4	2005	broad.mit.edu	37	1	205588203	205588203	+	Splice_Site	SNP	T	T	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:205588203T>A	ENST00000357992.4	-	4	1420		c.e4-2			NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)									p.?(1)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GATGGGTGTCTGCAATACACA	0.453000			T	SLC45A3	prostate								36	43					0	0	0.019004	0	0
CCDC147	159686	broad.mit.edu	37	10	106125670	106125670	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr10:106125670G>T	ENST00000369704.3	+	5	830	c.696G>T	c.(694-696)atG>atT	p.M232I	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	232								p.M232I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGGCAGACATGGACAGCAGGC	0.502000													7	28					8.12818e-05	9.33236e-05	0.029380	1	0
NEURL4	84461	broad.mit.edu	37	17	7221815	7221815	+	Splice_Site	SNP	T	T	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:7221815T>C	ENST00000399464.2	-	23	3878	c.3864_splice	c.e23+1	p.Q1288_splice	NEURL4_ENST00000315614.7_Splice_Site_p.Q1286_splice|RP11-542C16.2_ENST00000575474.1_Splice_Site_p.R102_splice|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Splice_Site_p.Q1264_splice	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.Q1288R(1)|p.Q1286R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCACTAACCTGCTCACACTG	0.627000													3	12					0	0	0.004672	0	0
LAYN	143903	broad.mit.edu	37	11	111425981	111425981	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:111425981A>C	ENST00000436913.2	+	4	590	c.189A>C	c.(187-189)gaA>gaC	p.E63D	LAYN_ENST00000375615.3_Missense_Mutation_p.E216D|LAYN_ENST00000525126.1_Missense_Mutation_p.E216D|LAYN_ENST00000533265.1_Missense_Mutation_p.E208D|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.E208D	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	216	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	p.E208D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AAACACAGGAAGAAGATGCCA	0.403000													6	58					0	0	0.038147	0	0
MRPS7	51081	broad.mit.edu	37	17	73261910	73261910	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:73261910C>T	ENST00000579002.1	+	4	1137	c.722C>T	c.(721-723)gCt>gTt	p.A241V	MRPS7_ENST00000245539.6_Missense_Mutation_p.A212V			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	212					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	p.A212V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CTGCTGGAGGCTTTCCATAAC	0.577000													17	56					0	0	0.010504	0	0
GRM5	2915	broad.mit.edu	37	11	88780748	88780748	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:88780748G>T	ENST00000418177.2	-	2	660	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	GRM5_ENST00000393297.1_Missense_Mutation_p.S98Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S98Y|GRM5_ENST00000305447.4_Missense_Mutation_p.S98Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S98Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S98Y			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	98					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S98Y(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATGCCAGCAGGAGTCCCTTAT	0.517000													18	20					1.33834e-09	1.76547e-09	0.043863	1	0
UTP14A	10813	broad.mit.edu	37	X	129063425	129063425	+	Silent	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:129063425C>G	ENST00000394422.3	+	15	2185	c.2157C>G	c.(2155-2157)ccC>ccG	p.P719P	UTP14A_ENST00000371042.3_Silent_p.P551P|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.P665P|UTP14A_ENST00000425117.2_Silent_p.P667P	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	719					rRNA processing	nucleolus|small-subunit processome	protein binding	p.P719P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGACTACTCCCAAGGTCGTCA	0.507000													17	78					0	0	0.033300	0	0
DHX8	1659	broad.mit.edu	37	17	41594634	41594634	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:41594634A>G	ENST00000262415.3	+	18	2815	c.2743A>G	c.(2743-2745)Acc>Gcc	p.T915A	DHX8_ENST00000540306.1_Missense_Mutation_p.T915A	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	915	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.T915A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AATGCTGACCACCAACGTGCC	0.512000													3	32					0	0	0.004672	0	0
AP3D1	8943	broad.mit.edu	37	19	2115379	2115379	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:2115379C>T	ENST00000355272.6	-	20	2394	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	AP3D1_ENST00000350812.6_Missense_Mutation_p.E561K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E730K|AP3D1_ENST00000356926.4_Missense_Mutation_p.E639K	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	730					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	p.E730K(1)		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)		TGCCGCCGCTCCTCCTCCAGC	0.657000													17	80					0	0	0.014323	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529991	140529991	+	Silent	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:140529991G>A	ENST00000231136.1	+	1	153	c.153G>A	c.(151-153)ctG>ctA	p.L51L	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		51	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L51L(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAGGACCTGGGACTGAGGG	0.512000													32	120					0	0	0.037714	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284535	118284535	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:118284535G>A	ENST00000402510.2	-	1	7	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	3								p.A3V(1)		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						CGTCCAGCCGGCCCTCATTTC	0.662000													24	46					0	0	0.018920	0	0
NCBP2	22916	broad.mit.edu	37	3	196664485	196664485	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:196664485G>A	ENST00000447325.1	-	3	434	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	NCBP2_ENST00000422610.1_Missense_Mutation_p.R29W|NCBP2_ENST00000452404.2_Missense_Mutation_p.R81W|NCBP2_ENST00000321256.5_Missense_Mutation_p.R99W|NCBP2_ENST00000427641.2_Missense_Mutation_p.R46W|NCBP2_ENST00000467803.1_5'UTR			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	99					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	p.R99W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTTATGTACCGCATGGCGTTT	0.488000													4	94					0	0	0.014758	0	0
AP3D1	8943	broad.mit.edu	37	19	2115386	2115386	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:2115386C>T	ENST00000355272.6	-	20	2387	c.2181G>A	c.(2179-2181)ctG>ctA	p.L727L	AP3D1_ENST00000350812.6_Silent_p.L558L|AP3D1_ENST00000345016.5_Silent_p.L727L|AP3D1_ENST00000356926.4_Silent_p.L636L	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	727					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	p.L727L(1)		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)		GCTCCTCCTCCAGCTTCACAT	0.657000													18	76					0	0	0.016522	0	0
TRPC4	7223	broad.mit.edu	37	13	38237641	38237641	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr13:38237641G>T	ENST00000379705.3	-	6	2457	c.1600C>A	c.(1600-1602)Cta>Ata	p.L534I	TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.L534I|TRPC4_ENST00000355779.2_Missense_Mutation_p.L534I|TRPC4_ENST00000379681.3_Missense_Mutation_p.L534I|TRPC4_ENST00000379679.1_Missense_Mutation_p.L361I|TRPC4_ENST00000338947.5_Missense_Mutation_p.L361I|TRPC4_ENST00000447043.1_Missense_Mutation_p.L534I|TRPC4_ENST00000358477.2_Missense_Mutation_p.L534I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	534					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.L534I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATTGATTTAGGCCATTTGCA	0.373000													4	73					0.00024832	0.000282492	0.009096	1	0
PLEC	5339	broad.mit.edu	37	8	144991017	144991017	+	Silent	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr8:144991017G>A	ENST00000322810.4	-	32	13552	c.13383C>T	c.(13381-13383)ccC>ccT	p.P4461P	PLEC_ENST00000354589.3_Silent_p.P4324P|PLEC_ENST00000345136.3_Silent_p.P4324P|PLEC_ENST00000356346.3_Silent_p.P4310P|PLEC_ENST00000357649.2_Silent_p.P4328P|PLEC_ENST00000527096.1_Silent_p.P4347P|PLEC_ENST00000436759.2_Silent_p.P4351P|PLEC_ENST00000398774.2_Silent_p.P4292P|PLEC_ENST00000354958.2_Silent_p.P4302P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4461	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.P4324P(1)|p.P4461P(1)|p.P4351P(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCGGTGCTGGGGTCGATGA	0.652000													8	58					0	0	0.038147	0	0
C12orf5	57103	broad.mit.edu	37	12	4459026	4459026	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:4459026T>G	ENST00000179259.4	+	4	301	c.234T>G	c.(232-234)gaT>gaG	p.D78E	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	78						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	p.D78E(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TTTGCAAAGATATGACGGTAA	0.353000													12	89					0	0	0.020292	0	0
SYNE1	23345	broad.mit.edu	37	6	152804280	152804280	+	Silent	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:152804280G>T	ENST00000367255.5	-	14	1891	c.1290C>A	c.(1288-1290)acC>acA	p.T430T	SYNE1_ENST00000367248.3_Silent_p.T420T|SYNE1_ENST00000423061.1_Silent_p.T437T|SYNE1_ENST00000448038.1_Silent_p.T437T|SYNE1_ENST00000413186.2_Silent_p.T430T|SYNE1_ENST00000341594.5_Silent_p.T430T|SYNE1_ENST00000367253.4_Silent_p.T430T|SYNE1_ENST00000265368.4_Silent_p.T430T|SYNE1_ENST00000466159.2_Silent_p.T430T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	430					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	p.T430T(2)|p.T437T(1)		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)		CCTGTTGAACGGTTATTTCCT	0.483000										HNSCC(10;0.0054)			78	97					1.1397e-45	1.97655e-45	0.014410	1	0
BZRAP1	9256	broad.mit.edu	37	17	56389902	56389902	+	Silent	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:56389902C>A	ENST00000355701.3	-	17	3150	c.2280G>T	c.(2278-2280)gtG>gtT	p.V760V	BZRAP1_ENST00000268893.6_Silent_p.V700V|BZRAP1_ENST00000343736.4_Silent_p.V760V	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	760						mitochondrion	benzodiazepine receptor binding	p.V760V(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCTCCTTCCCACACTGCTTT	0.647000													21	54					5.35356e-11	7.50103e-11	0.016522	1	0
LAMB4	22798	broad.mit.edu	37	7	107708591	107708591	+	Missense_Mutation	SNP	G	G	C	rs140790836	byFrequency	TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:107708591G>C	ENST00000388781.3	-	19	2399	c.2316C>G	c.(2314-2316)caC>caG	p.H772Q	LAMB4_ENST00000388780.3_Missense_Mutation_p.H772Q|LAMB4_ENST00000205386.4_Missense_Mutation_p.H772Q	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	772	Laminin EGF-like 6.				cell adhesion	basement membrane		p.H772Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGCCCTGGGGGTGACACTTGC	0.547000													24	29					0	0	0.018920	0	0
BANK1	55024	broad.mit.edu	37	4	102839313	102839313	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr4:102839313C>T	ENST00000504592.1	+	11	1546	c.1128C>T	c.(1126-1128)caC>caT	p.H376H	BANK1_ENST00000428908.1_Silent_p.H258H|BANK1_ENST00000508653.1_Silent_p.H258H|BANK1_ENST00000444316.2_Silent_p.H361H|BANK1_ENST00000322953.4_Silent_p.H391H			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	391					B cell activation			p.H391H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGCATGGTCACAAAGAACTCA	0.358000													7	74					0	0	0.029380	0	0
VPS13C	54832	broad.mit.edu	37	15	62226466	62226466	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr15:62226466A>C	ENST00000261517.5	-	49	5893	c.5820T>G	c.(5818-5820)ttT>ttG	p.F1940L	VPS13C_ENST00000395898.3_Missense_Mutation_p.F1897L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F1940L|VPS13C_ENST00000249837.3_Missense_Mutation_p.F1897L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1940					protein localization			p.F1940L(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTCAAAGTGAAAGTCAAATT	0.318000													16	160					0	0	0.038395	0	0
AKR1B15	441282	broad.mit.edu	37	7	134254279	134254279	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:134254279A>G	ENST00000457545.2	+	5	693	c.433A>G	c.(433-435)Aag>Gag	p.K145E	AKR1B15_ENST00000423958.1_Missense_Mutation_p.K117E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	145							oxidoreductase activity	p.K145E(1)|p.K117E(1)|p.K123E(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACAGGGATTCAAGGTTTGAGT	0.507000													20	57					0	0	0.012319	0	0
TENM3	55714	broad.mit.edu	37	4	183675836	183675836	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr4:183675836C>T	ENST00000511685.1	+	22	4439	c.4316C>T	c.(4315-4317)tCc>tTc	p.S1439F	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S1439F					teneurin transmembrane protein 3									p.S1439F(1)									GGAGAAATCTCCTTAGTGGCC	0.468000													8	34					0	0	0.038147	0	0
RNF19B	127544	broad.mit.edu	37	1	33402700	33402700	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:33402700G>T	ENST00000373456.7	-	9	1905	c.1906C>A	c.(1906-1908)Ccc>Acc	p.P636T	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.P635T	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	636						integral to membrane	ligase activity|protein binding|zinc ion binding	p.P445T(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTCTGCAGGGGGGATCCTCT	0.567000													17	145					4.35082e-09	5.67896e-09	0.010504	1	0
KRT75	9119	broad.mit.edu	37	12	52825359	52825359	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:52825359C>T	ENST00000252245.5	-	4	1058	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	280	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.E280K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AAGTTGATCTCCTCGGGCAGA	0.483000													4	55					0	0	0.021553	0	0
COL7A1	1294	broad.mit.edu	37	3	48630019	48630019	+	Missense_Mutation	SNP	G	G	T	rs141801873		TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:48630019G>T	ENST00000328333.8	-	7	1067	c.960C>A	c.(958-960)agC>agA	p.S320R	COL7A1_ENST00000454817.1_Missense_Mutation_p.S320R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	320	Fibronectin type-III 1.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.S320R(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGCTGTCCCGCTCACAGCCT	0.617000													9	30					0.000274275	0.000310595	0.004482	1	0
KALRN	8997	broad.mit.edu	37	3	124377365	124377365	+	Splice_Site	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:124377365G>A	ENST00000360013.3	+	42	6247		c.e42+1		KALRN_ENST00000393496.1_Splice_Site|KALRN_ENST00000459915.1_Splice_Site|KALRN_ENST00000428018.2_Splice_Site|KALRN_ENST00000291478.4_Splice_Site	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTACTTTGAGGTAAGCTGTGC	0.507000													12	50					0	0	0.010729	0	0
EBF1	1879	broad.mit.edu	37	5	158223455	158223455	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:158223455C>T	ENST00000313708.6	-	9	1089	c.807G>A	c.(805-807)ccG>ccA	p.P269P	EBF1_ENST00000517373.1_Silent_p.P261P|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.P238P	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	269	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding	p.P269P(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTCACTCGGGCTGATGG	0.463000			T	HMGA2	lipoma								4	66					0	0	0.009096	0	0
C2orf80	389073	broad.mit.edu	37	2	209049756	209049756	+	Splice_Site	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:209049756C>A	ENST00000341287.4	-	3	237	c.41_splice	c.e3-1	p.L14_splice	C2orf80_ENST00000453017.1_Splice_Site_p.L14_splice|C2orf80_ENST00000451346.1_Intron	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	14								p.?(1)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TATAATCTCCCCTTAAAAGCA	0.448000													9	61					0.000442599	0.000496673	0.006214	1	0
OPRK1	4986	broad.mit.edu	37	8	54142117	54142117	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr8:54142117G>T	ENST00000265572.3	-	4	1180	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.L206M|OPRK1_ENST00000520287.1_Missense_Mutation_p.L295M	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	295					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.L295M(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GCCTCCACCAGGATGAATATG	0.552000													12	11					0.010729	0.011227	0.010729	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90556331	90556331	+	RNA	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:90556331G>T	ENST00000551025.1	+	0	1460							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.G8V(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GATGACAATGGTGATGGAACA	0.338000													7	10					1.76689e-08	2.24713e-08	0.006214	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905670	144905670	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:144905670C>T	ENST00000370490.1	+	1	5982	c.1727C>T	c.(1726-1728)gCt>gTt	p.A576V	SLITRK2_ENST00000434188.2_Missense_Mutation_p.A576V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A576V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A576V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A576V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	576	LRRCT 2.					integral to membrane		p.A576V(1)		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)					GGGAGGGAGGCTATCTGTCCA	0.473000													30	50					0	0	0.041601	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994659	140994659	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:140994659C>A	ENST00000285879.4	+	4	1755	c.1469C>A	c.(1468-1470)aCt>aAt	p.T490N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	490							protein binding	p.T490N(1)		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)					TCCTCCTCCACTTTATTGAGT	0.498000										HNSCC(15;0.026)			52	243					8.28887e-21	1.30932e-20	0.014410	1	0
MDGA1	266727	broad.mit.edu	37	6	37626189	37626189	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:37626189A>G	ENST00000434837.2	-	3	1392	c.214T>C	c.(214-216)Tgg>Cgg	p.W72R	MDGA1_ENST00000297153.7_Missense_Mutation_p.W72R|MDGA1_ENST00000505425.1_Missense_Mutation_p.W72R	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	72	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.W72R(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTCTTGGTCCACCGTACCTGG	0.667000													11	56					0	0	0.024245	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77093235	77093235	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:77093235C>T	ENST00000328299.3	+	4	870	c.722C>T	c.(721-723)aCc>aTc	p.T241I		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	241					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.T241I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ATAAATGACACCTACTGCAAG	0.403000													29	117					0	0	0.045705	0	0
FAM50A	9130	broad.mit.edu	37	X	153678637	153678637	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:153678637C>T	ENST00000393600.3	+	12	1091	c.981C>T	c.(979-981)taC>taT	p.Y327Y		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	327					spermatogenesis	nucleus		p.Y327Y(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGAACCCTACGACCCTGAAA	0.622000													6	69					0	0	0.004482	0	0
CMYA5	202333	broad.mit.edu	37	5	79030937	79030937	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:79030937G>C	ENST00000446378.2	+	2	6380	c.6349G>C	c.(6349-6351)Gat>Cat	p.D2117H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2117						perinuclear region of cytoplasm		p.D2117H(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGATGATGCTGATGAGGGAAA	0.438000													20	49					0	0	0.008871	0	0
ARSG	22901	broad.mit.edu	37	17	66339822	66339822	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:66339822G>A	ENST00000448504.2	+	3	1092	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	99					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	p.R99H(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTGGCCTTCGCAATGGAGTC	0.602000													5	49					0	0	0.021553	0	0
HYOU1	10525	broad.mit.edu	37	11	118922237	118922237	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:118922237T>C	ENST00000404233.3	-	13	1563	c.1439A>G	c.(1438-1440)aAa>aGa	p.K480R	HYOU1_ENST00000543287.1_Missense_Mutation_p.K393R|HYOU1_ENST00000529972.1_Missense_Mutation_p.K480R|HYOU1_ENST00000525859.1_Missense_Mutation_p.K480R	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	480						endoplasmic reticulum lumen	ATP binding|protein binding	p.K480R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGTGATGACTTTGCGTTGAGG	0.562000													21	49					0	0	0.010504	0	0
C2orf80	389073	broad.mit.edu	37	2	209049757	209049757	+	Splice_Site	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:209049757C>A	ENST00000341287.4	-	3	237		c.e3-1		C2orf80_ENST00000453017.1_Splice_Site|C2orf80_ENST00000451346.1_Intron	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80									p.?(1)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						ATAATCTCCCCTTAAAAGCAA	0.448000													9	61					0.000442599	0.000496673	0.006214	1	0
ZC3H3	23144	broad.mit.edu	37	8	144557623	144557623	+	Silent	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr8:144557623G>A	ENST00000262577.5	-	5	1879	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	616					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.L616L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGTCTTGGAGAGCTTGTTGG	0.672000													5	47					0	0	0.029380	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630484	47630484	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr20:47630484A>T	ENST00000371917.4	+	30	4166	c.4166A>T	c.(4165-4167)gAg>gTg	p.E1389V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1389					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	p.E1389V(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAACTCCCTGAGCAACTGTCA	0.483000													19	106					0	0	0.008871	0	0
DNAH7	56171	broad.mit.edu	37	2	196825586	196825586	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:196825586C>A	ENST00000312428.6	-	18	2389	c.2289G>T	c.(2287-2289)ttG>ttT	p.L763F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	763	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L763F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATAAGGGTTCAAGCCATCTT	0.393000													7	133					2.7689e-08	3.5035e-08	0.029380	1	0
AP3D1	8943	broad.mit.edu	37	19	2115314	2115314	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:2115314C>T	ENST00000355272.6	-	20	2459	c.2253G>A	c.(2251-2253)aaG>aaA	p.K751K	AP3D1_ENST00000350812.6_Silent_p.K582K|AP3D1_ENST00000345016.5_Silent_p.K751K|AP3D1_ENST00000356926.4_Silent_p.K660K	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	751					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	p.K751K(1)		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)		GCTTGCCcttcttctccttct	0.602000													13	47					0	0	0.013537	0	0
NELL1	4745	broad.mit.edu	37	11	21594952	21594952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:21594952C>A	ENST00000298925.5	+	20	2616	c.2463C>A	c.(2461-2463)tgC>tgA	p.C821*	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Nonsense_Mutation_p.C793*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.C736*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.C746*			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	793					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.C793*(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTGTAAATGCAAGGTAATTG	0.468000													21	78					2.98393e-07	3.66344e-07	0.016522	1	0
ANO7	50636	broad.mit.edu	37	2	242149890	242149890	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:242149890G>A	ENST00000274979.8	+	15	1731	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	ANO7_ENST00000402430.3_Missense_Mutation_p.R542H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	543						cell junction|chloride channel complex|cytosol	chloride channel activity	p.R543H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TAGGCCTCTCGCATCGCCAGC	0.642000													5	45					0	0	0.021553	0	0
ABCA13	154664	broad.mit.edu	37	7	48413973	48413973	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:48413973A>T	ENST00000435803.1	+	34	11187	c.11163A>T	c.(11161-11163)caA>caT	p.Q3721H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3721					transport	integral to membrane	ATP binding|ATPase activity	p.Q3666H(1)|p.Q3721H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCTTTGGACAAGGGGTATTTT	0.413000													6	29					0	0	0.029380	0	0
TEX37	200523	broad.mit.edu	37	2	88828903	88828903	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:88828903C>A	ENST00000303254.3	+	4	596	c.454C>A	c.(454-456)Cta>Ata	p.L152I		NM_152670.2	NP_689883.1			testis expressed 37									p.L152I(1)									AGGCTACCTGCTACTGCCAGG	0.562000													23	49					1.10923e-09	1.47107e-09	0.016522	1	0
FAT2	2196	broad.mit.edu	37	5	150943179	150943179	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:150943179G>T	ENST00000261800.5	-	2	3293	c.3281C>A	c.(3280-3282)cCc>cAc	p.P1094H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1094	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P1094H(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGGTCCAGGGGTGCCAGAGT	0.473000													4	44					1.23904e-05	1.44944e-05	0.014758	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291003	141291003	+	Silent	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:141291003C>G	ENST00000247452.3	-	3	1118	c.771G>C	c.(769-771)ggG>ggC	p.G257G		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	257	MAGE.					cytoplasm|nucleus		p.G257G(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCATATACCCCTACTGCAT	0.532000										HNSCC(46;0.14)			61	178					0	0	0.014410	0	0
RPP40	10799	broad.mit.edu	37	6	5000118	5000118	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:5000118C>A	ENST00000380051.2	-	4	402	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	RPP40_ENST00000319533.5_Missense_Mutation_p.D97Y|RPP40_ENST00000464646.1_Missense_Mutation_p.D60Y	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	120					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.D120Y(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GTGTCTTTATCCAGTGACAAA	0.333000													55	67					1.13205e-32	1.92293e-32	0.014410	1	0
ZNF462	58499	broad.mit.edu	37	9	109746587	109746587	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr9:109746587A>T	ENST00000277225.5	+	10	7242	c.6953A>T	c.(6952-6954)cAt>cTt	p.H2318L	ZNF462_ENST00000457913.1_Missense_Mutation_p.H2378L|ZNF462_ENST00000441147.2_Missense_Mutation_p.H1224L|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.H275L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2318					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H2318L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCCAGCAACATATAGAAAAG	0.483000													9	58					0	0	0.004482	0	0
OR5A1	219982	broad.mit.edu	37	11	59211538	59211538	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:59211538G>T	ENST00000302030.2	+	1	922	c.897G>T	c.(895-897)gaG>gaT	p.E299D		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E299D(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGAACAAAGAGATCAAGGATG	0.433000													61	124					1.79293e-35	3.06653e-35	0.014410	1	0
SLMO2	51012	broad.mit.edu	37	20	57613683	57613683	+	Silent	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr20:57613683C>A	ENST00000355937.4	-	2	217	c.39G>T	c.(37-39)ccG>ccT	p.P13P	SLMO2_ENST00000371033.5_Silent_p.P13P	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	13	PRELI/MSF1.							p.P13P(1)		endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CAGTTTCCCACGGGTGGCTGC	0.358000													22	90					8.10497e-08	1.01517e-07	0.010504	1	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			15	75					0	0	0.020292	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369626	86369626	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr13:86369626G>T	ENST00000400286.2	-	2	1616	c.1018C>A	c.(1018-1020)Cca>Aca	p.P340T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	340	LRRNT 2.					integral to membrane		p.P340K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGTCCTGATGGGGATAGGACT	0.448000													35	75					1.4065e-29	2.35683e-29	0.017118	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118383478	118383478	+	RNA	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr10:118383478A>T	ENST00000537242.1	+	0	98				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.Q24H(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GCTACGGACAACTTGGCTGCT	0.488000													13	41					0	0	0.028581	0	0
ATP1B4	23439	broad.mit.edu	37	X	119496040	119496040	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:119496040G>A	ENST00000218008.3	+	1	74	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	ATP1B4_ENST00000361319.3_Missense_Mutation_p.R6Q|ATP1B4_ENST00000539306.1_Missense_Mutation_p.R6Q	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	6					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.R6Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGGCAACTCCGGTCCAGAAGG	0.522000													12	198					0	0	0.020292	0	0
LRIG3	121227	broad.mit.edu	37	12	59272706	59272706	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:59272706G>T	ENST00000320743.3	-	14	2269	c.1983C>A	c.(1981-1983)ttC>ttA	p.F661L	LRIG3_ENST00000379141.4_Missense_Mutation_p.F601L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	661	Ig-like C2-type 2.					integral to membrane		p.F661L(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCACGATAAAGAACACGTCAT	0.542000			T	ROS1	NSCLC								9	79					0.00448238	0.00483318	0.004482	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84608465	84608465	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr9:84608465G>T	ENST00000344803.2	+	4	3127	c.3080G>T	c.(3079-3081)aGa>aTa	p.R1027I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.R1027I(2)									TCCCTTAGAAGAGGTACTACA	0.448000													65	137					1.09529e-45	1.91291e-45	0.014410	1	0
TACR3	6870	broad.mit.edu	37	4	104512654	104512654	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr4:104512654G>T	ENST00000304883.2	-	4	1215	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	359						integral to plasma membrane	tachykinin receptor activity	p.L359M(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTTTTATTCAGACAGCAGTAG	0.398000													22	71					2.89027e-11	4.09592e-11	0.014323	1	0
ALPK3	57538	broad.mit.edu	37	15	85411371	85411371	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr15:85411371C>T	ENST00000258888.5	+	14	5575	c.5408C>T	c.(5407-5409)cCt>cTt	p.P1803L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1803	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.P1803L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTGCTTCCCTGCCCTGCTG	0.647000													19	138					0	0	0.008871	0	0
ZNF638	27332	broad.mit.edu	37	2	71629097	71629097	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:71629097A>C	ENST00000409544.1	+	16	3339	c.2709A>C	c.(2707-2709)gaA>gaC	p.E903D	ZNF638_ENST00000355812.3_Missense_Mutation_p.E903D|ZNF638_ENST00000264447.4_Missense_Mutation_p.E903D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	903					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.E903D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAACAGAAGAAATGTGTGTGA	0.269000													5	58					0	0	0.014758	0	0
NAV3	89795	broad.mit.edu	37	12	78582552	78582552	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:78582552T>A	ENST00000397909.2	+	33	6223	c.6050T>A	c.(6049-6051)cTc>cAc	p.L2017H	NAV3_ENST00000536525.2_Missense_Mutation_p.L1995H|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000266692.7_Missense_Mutation_p.L1818H|NAV3_ENST00000228327.6_Missense_Mutation_p.L1995H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2017						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.L1995H(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGTGAACCTCAAAGGTAAA	0.378000										HNSCC(70;0.22)			16	44					0	0	0.024245	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413585	121413585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:121413585C>A	ENST00000393667.3	-	13	5895	c.5785G>T	c.(5785-5787)Gag>Tag	p.E1929*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.E1924*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1924					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E1924*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATAAGCCTCTCTTCCAAATCA	0.368000													56	126					1.54886e-18	2.41583e-18	0.014410	1	0
PCDHB17P	54661	broad.mit.edu	37	5	140536921	140536921	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:140536921G>A	ENST00000539533.1	+	1	1345	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T															p.A449T(2)									CAATGACAACGCCCCCGCCTT	0.587000													5	91					0	0	0.029380	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184794	32184794	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:32184794G>T	ENST00000375023.3	-	11	1927	c.1789C>A	c.(1789-1791)Cca>Aca	p.P597T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	597	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.P597K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACGGGACATGGGTCACTCAGG	0.582000													28	29					9.39395e-14	1.37852e-13	0.030593	1	0
SLC6A13	6540	broad.mit.edu	37	12	330154	330154	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:330154G>T	ENST00000343164.4	-	15	1821	c.1769C>A	c.(1768-1770)aCc>aAc	p.T590N	SLC6A13_ENST00000445055.2_Missense_Mutation_p.T498N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	590					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.T590N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGCAGTGAGGTCCTGGGGGT	0.657000													6	26					0.00116845	0.00128789	0.021553	1	0
COL5A1	1289	broad.mit.edu	37	9	137704300	137704300	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr9:137704300G>T	ENST00000371817.3	+	47	4110	c.3696G>T	c.(3694-3696)ttG>ttT	p.L1232F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1232	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.L1232F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCAGGGTTTGCCAGGACCTC	0.542000													4	30					0.00909568	0.00959885	0.009096	1	0
TMEM168	64418	broad.mit.edu	37	7	112423771	112423771	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:112423771C>A	ENST00000312814.5	-	2	1670	c.1110G>T	c.(1108-1110)ttG>ttT	p.L370F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L370F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	370						integral to membrane|transport vesicle		p.L370F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AAACTGCTCCCAAAATCGCTG	0.398000													50	91					1.56793e-16	2.38555e-16	0.014410	1	0
HTATSF1	27336	broad.mit.edu	37	X	135592353	135592353	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:135592353C>G	ENST00000535601.1	+	9	1459	c.1037C>G	c.(1036-1038)gCa>gGa	p.A346G	HTATSF1_ENST00000218364.4_Missense_Mutation_p.A346G	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	346	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.A346G(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ACTGCCCAGGCATGGGATGGG	0.448000													77	298					0	0	0.014410	0	0
FCGBP	8857	broad.mit.edu	37	19	40434113	40434113	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:40434113G>T	ENST00000221347.6	-	2	163	c.156C>A	c.(154-156)taC>taA	p.Y52*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	52	IgGFc-binding.					extracellular region	protein binding	p.Y52*(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAGGCGGGGGTAGGCCTTGC	0.577000													19	65					1.28384e-07	1.59196e-07	0.012319	1	0
MAGEH1	28986	broad.mit.edu	37	X	55479280	55479280	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:55479280A>C	ENST00000342972.1	+	1	743	c.473A>C	c.(472-474)gAg>gCg	p.E158A		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	158	MAGE.				apoptosis			p.E158A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AGTCCGGTGGAGTATGAGTTC	0.517000													6	59					0	0	0.021553	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622297	18622297	+	Silent	SNP	C	C	A	rs143328816		TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr9:18622297C>A	ENST00000380548.4	+	5	870	c.531C>A	c.(529-531)gtC>gtA	p.V177V	ADAMTSL1_ENST00000276935.6_Silent_p.V177V|ADAMTSL1_ENST00000380566.4_Silent_p.V177V|ADAMTSL1_ENST00000327883.7_Silent_p.V177V|ADAMTSL1_ENST00000380570.4_Silent_p.V177V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	177						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.V177V(2)		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)		ACTGTGGGGTCTGCAACGGAG	0.527000													18	32					1.67942e-08	2.15499e-08	0.038395	1	0
HSPA1L	3305	broad.mit.edu	37	6	31779552	31779552	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:31779552C>T	ENST00000375654.4	-	2	387	c.198G>A	c.(196-198)caG>caA	p.Q66Q	HSPA1L_ENST00000417199.3_Silent_p.Q66Q	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	66					response to unfolded protein		ATP binding	p.Q66Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAACAGTGTTCTGGGGATTCA	0.493000													84	63					0	0	0.014410	0	0
GRIK4	2900	broad.mit.edu	37	11	120690598	120690598	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:120690598C>T	ENST00000527524.2	+	6	767	c.480C>T	c.(478-480)acC>acT	p.T160T	GRIK4_ENST00000438375.2_Silent_p.T160T			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	160					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.T160T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCAACTGCACCACCGCCTGCC	0.537000													8	198					0	0	0.008291	0	0
KIF20B	9585	broad.mit.edu	37	10	91469165	91469165	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr10:91469165C>T	ENST00000416354.1	+	4	370	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	KIF20B_ENST00000394289.2_Missense_Mutation_p.R100W|KIF20B_ENST00000260753.4_Missense_Mutation_p.R100W|KIF20B_ENST00000371728.3_Missense_Mutation_p.R100W			Q96Q89	KI20B_HUMAN	kinesin family member 20B	100	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	p.R100W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CATCCTTGGTCGGTTAAGTGA	0.368000													16	147					0	0	0.028581	0	0
PAK3	5063	broad.mit.edu	37	X	110366401	110366401	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:110366401G>A	ENST00000519681.1	+	5	512	c.70G>A	c.(70-72)Gat>Aat	p.D24N	PAK3_ENST00000518291.1_Missense_Mutation_p.D24N|PAK3_ENST00000262836.4_Missense_Mutation_p.D24N|PAK3_ENST00000446737.1_Missense_Mutation_p.D24N|PAK3_ENST00000425146.1_Missense_Mutation_p.D24N|PAK3_ENST00000417227.1_Missense_Mutation_p.D24N|PAK3_ENST00000372007.4_Missense_Mutation_p.D24N|PAK3_ENST00000372010.1_Missense_Mutation_p.D24N|PAK3_ENST00000360648.4_Missense_Mutation_p.D24N			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	24					multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.D24N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAACAACCGGGATTCTTCAGC	0.488000										TSP Lung(19;0.15)			78	71					0	0	0.014410	0	0
RPL31P11	641311	broad.mit.edu	37	1	161655008	161655008	+	RNA	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:161655008G>T	ENST00000426558.1	-	0	34					NR_002595.1																						ATTCTGCCGGGTCCAAGTTGG	0.483000													3	11					0.004672	0.00501583	0.004672	1	0
ATP1B1	481	broad.mit.edu	37	1	169100659	169100659	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:169100659G>T	ENST00000367816.1	+	7	1307	c.778G>T	c.(778-780)Gcc>Tcc	p.A260S	ATP1B1_ENST00000499679.3_Missense_Mutation_p.A204S|ATP1B1_ENST00000367813.3_Missense_Mutation_p.A252S|ATP1B1_ENST00000367815.3_Missense_Mutation_p.A260S			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	260					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	p.A260S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GCCCCTGCTGGCCGTACAGTT	0.498000													7	151					0.00448238	0.00483318	0.004482	1	0
STOML3	161003	broad.mit.edu	37	13	39546705	39546705	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr13:39546705C>A	ENST00000379631.4	-	4	600	c.256G>T	c.(256-258)Gat>Tat	p.D86Y	STOML3_ENST00000423210.1_Missense_Mutation_p.D77Y	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	86						integral to membrane|plasma membrane		p.D86Y(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ACAAACACATCTATGCATGGC	0.373000													32	82					2.20474e-14	3.25461e-14	0.017118	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21898723	21898723	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr18:21898723C>G	ENST00000319481.3	-	8	882	c.676G>C	c.(676-678)Gtt>Ctt	p.V226L		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	226					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	p.V226L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTATTACCAACAAGAATGTGT	0.294000													16	39					0	0	0.028581	0	0
PCDH9	5101	broad.mit.edu	37	13	67801795	67801795	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr13:67801795G>T	ENST00000544246.1	-	2	1469	c.778C>A	c.(778-780)Cat>Aat	p.H260N	PCDH9_ENST00000377865.2_Missense_Mutation_p.H260N|PCDH9_ENST00000377861.3_Missense_Mutation_p.H260N|PCDH9_ENST00000328454.5_Missense_Mutation_p.H260N|PCDH9_ENST00000456367.1_Missense_Mutation_p.H260N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	260	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H260N(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTGGAATATGCACCTCCACT	0.473000													5	62					0.014758	0.0153781	0.014758	1	0
MDH1B	130752	broad.mit.edu	37	2	207615733	207615733	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:207615733C>A	ENST00000374412.3	-	6	1252	c.977G>T	c.(976-978)aGg>aTg	p.R326M	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R326M|MDH1B_ENST00000449792.1_Missense_Mutation_p.R228M	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	326					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	p.R326M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TCTGTACACCCTTGTTTTTCT	0.338000													11	97					5.50884e-06	6.56823e-06	0.013537	1	0
AP3D1	8943	broad.mit.edu	37	19	2120872	2120872	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:2120872C>T	ENST00000355272.6	-	14	1676	c.1470G>A	c.(1468-1470)ggG>ggA	p.G490G	AP3D1_ENST00000350812.6_Silent_p.G321G|AP3D1_ENST00000345016.5_Silent_p.G490G|AP3D1_ENST00000356926.4_Silent_p.G399G	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	490					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	p.G490G(1)		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)		CTGAGAACTCCCCGCAGATCC	0.637000													6	36					0	0	0.029380	0	0
TPSG1	25823	broad.mit.edu	37	16	1272752	1272752	+	Silent	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr16:1272752G>T	ENST00000234798.4	-	4	415	c.411C>A	c.(409-411)ctC>ctA	p.L137L		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	137	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.L137L(1)		liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				TCCGGCTGGAGAGGGTCACGG	0.682000													12	39					2.27111e-07	2.80217e-07	0.013537	1	0
MUC16	94025	broad.mit.edu	37	19	9063968	9063968	+	Silent	SNP	A	A	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:9063968A>C	ENST00000397910.4	-	3	23681	c.23478T>G	c.(23476-23478)gcT>gcG	p.A7826A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7828	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A7826A(2)|p.A3459A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGGGAGGAAGCTAGCTCTG	0.542000													10	69					0	0	0.006214	0	0
ATP8B4	79895	broad.mit.edu	37	15	50271825	50271825	+	Silent	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr15:50271825G>A	ENST00000284509.6	-	12	1164	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	ATP8B4_ENST00000559829.1_Silent_p.S341S|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	341					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	p.S341S(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCACATATAAGGAAATGGGTA	0.308000													10	139					0	0	0.010729	0	0
AOAH	313	broad.mit.edu	37	7	36763656	36763656	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:36763656G>T	ENST00000431169.1	-	1	398	c.98C>A	c.(97-99)cCc>cAc	p.P33H	AOAH_ENST00000258749.5_Missense_Mutation_p.P33H|AOAH_ENST00000535891.1_Missense_Mutation_p.P33H	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	33					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.P33H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CGAGAGGCTGGGCCTGGACTG	0.483000													20	33					1.2644e-06	1.52962e-06	0.010504	1	0
OR5M8	219484	broad.mit.edu	37	11	56258623	56258623	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:56258623T>C	ENST00000327216.2	-	1	248	c.224A>G	c.(223-225)aAt>aGt	p.N75S		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N75S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGGAGTCACATTGGAAGAGAA	0.473000													32	59					0	0	0.041601	0	0
HLX	3142	broad.mit.edu	37	1	221053723	221053723	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:221053723A>G	ENST00000366903.6	+	1	2025	c.524A>G	c.(523-525)aAa>aGa	p.K175R		NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	175					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K175R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AAAGACCTCAAATTTGGAATT	0.622000													12	51					0	0	0.010729	0	0
OPRK1	4986	broad.mit.edu	37	8	54142118	54142118	+	Silent	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr8:54142118G>T	ENST00000265572.3	-	4	1179	c.882C>A	c.(880-882)atC>atA	p.I294I	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.I205I|OPRK1_ENST00000520287.1_Silent_p.I294I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	294					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.L295M(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCTCCACCAGGATGAATATGT	0.557000													12	12					0.010729	0.011227	0.010729	1	0
OR8K3	219473	broad.mit.edu	37	11	56086612	56086612	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:56086612A>T	ENST00000312711.1	+	1	830	c.830A>T	c.(829-831)tAc>tTc	p.Y277F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y277F(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCATATTTTACACCCTGGTT	0.393000													25	53					0	0	0.024334	0	0
ITGAL	3683	broad.mit.edu	37	16	30522454	30522454	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr16:30522454A>T	ENST00000356798.6	+	24	2963	c.2783A>T	c.(2782-2784)cAg>cTg	p.Q928L	ITGAL_ENST00000433423.2_Missense_Mutation_p.Q162L|ITGAL_ENST00000358164.5_Missense_Mutation_p.Q844L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	928					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.Q928L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATCCTCATCCAGGAGTAAGTT	0.577000													16	54					0	0	0.028581	0	0
ZNF730	100129543	broad.mit.edu	37	19	23318843	23318843	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:23318843C>A	ENST00000597761.2	+	3	423	c.224C>A	c.(223-225)cCa>cAa	p.P75Q	ZNF730_ENST00000593635.1_Missense_Mutation_p.P43Q	NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.P75Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GCCAAACCCCCAGGTAGGTGA	0.358000													15	41					2.32078e-09	3.04526e-09	0.024245	1	0
MECOM	2122	broad.mit.edu	37	3	168840508	168840508	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:168840508T>C	ENST00000464456.1	-	5	1474	c.274A>G	c.(274-276)Aaa>Gaa	p.K92E	MECOM_ENST00000264674.3_Missense_Mutation_p.K156E|MECOM_ENST00000472280.1_Missense_Mutation_p.K92E|MECOM_ENST00000392736.3_Missense_Mutation_p.K92E|MECOM_ENST00000468789.1_Missense_Mutation_p.K92E|MECOM_ENST00000433243.2_Missense_Mutation_p.K92E|MECOM_ENST00000494292.1_Missense_Mutation_p.K280E|MECOM_ENST00000460814.1_Missense_Mutation_p.K92E	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.K92E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGCATGTGTTTCTCCAGGCTG	0.368000													6	71					0	0	0.029380	0	0
NUP210L	91181	broad.mit.edu	37	1	153998192	153998192	+	Splice_Site	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:153998192C>A	ENST00000368559.3	-	30	4019	c.3947_splice	c.e30-1	p.R1316_splice	NUP210L_ENST00000368553.1_Splice_Site_p.R249_splice|NUP210L_ENST00000271854.3_Splice_Site_p.R1316_splice	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1316						integral to membrane		p.R1316S(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGCTCCTTCCCTAGGGAACA	0.473000													14	280					0.00316338	0.00345603	0.024245	1	0
KRT222	125113	broad.mit.edu	37	17	38818199	38818199	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:38818199A>T	ENST00000476049.1	-	2	235	c.194T>A	c.(193-195)cTg>cAg	p.L65Q	KRT222_ENST00000394052.3_Missense_Mutation_p.L65Q			Q8N1A0	KT222_HUMAN	keratin 222	65						intermediate filament	structural molecule activity	p.L65Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTCCACTTGCAGGTGGTGCCA	0.458000													95	171					0	0	0.014410	0	0
OR2T10	127069	broad.mit.edu	37	1	248756148	248756148	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:248756148G>T	ENST00000330500.2	-	1	952	c.922C>A	c.(922-924)Cag>Aag	p.Q308K		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q308K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			GGAGGTTTCTGCACGCTCAGC	0.383000													42	19					3.54909e-21	5.64214e-21	0.042209	1	0
PDK1	5163	broad.mit.edu	37	2	173435514	173435514	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:173435514G>A	ENST00000410055.1	+	8	1007	c.907G>A	c.(907-909)Gtt>Att	p.V303I	PDK1_ENST00000392571.2_Missense_Mutation_p.V323I|PDK1_ENST00000544863.1_Missense_Mutation_p.V148I|PDK1_ENST00000543905.1_Missense_Mutation_p.V227I|PDK1_ENST00000282077.2_Missense_Mutation_p.V303I	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	303	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.V303I(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCCTATTCAAGTTCATGTCAC	0.353000									Autosomal Dominant Polycystic Kidney Disease				20	48					0	0	0.018920	0	0
PEX1	5189	broad.mit.edu	37	7	92130962	92130962	+	Missense_Mutation	SNP	G	G	T	rs145430946	byFrequency	TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:92130962G>T	ENST00000248633.4	-	15	2537	c.2442C>A	c.(2440-2442)ttC>ttA	p.F814L	PEX1_ENST00000428214.1_Missense_Mutation_p.F757L|PEX1_ENST00000438045.1_Missense_Mutation_p.F492L|PEX1_ENST00000541751.1_3'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	814					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.F814L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAGCCTTTTGGAAGTCCAATG	0.363000													9	72					2.74318e-10	3.73796e-10	0.006214	1	0
OR5D13	390142	broad.mit.edu	37	11	55541680	55541680	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:55541680C>A	ENST00000361760.1	+	1	767	c.767C>A	c.(766-768)aCt>aAt	p.T256N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T256N(1)		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)				TTCCATGGAACTATCCTTTTC	0.448000													17	77					0.000566183	0.000632493	0.033300	1	0
PROKR2	128674	broad.mit.edu	37	20	5294904	5294904	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr20:5294904C>T	ENST00000546004.1	-	2	358	c.112G>A	c.(112-114)Gat>Aat	p.D38N	PROKR2_ENST00000217270.3_Missense_Mutation_p.D38N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	38						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.D38N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCATCCTCATCCATAGGGAGG	0.507000										HNSCC(71;0.22)			15	82					0	0	0.028581	0	0
CYP2U1	113612	broad.mit.edu	37	4	108868619	108868619	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr4:108868619C>A	ENST00000332884.6	+	3	1489	c.1214C>A	c.(1213-1215)gCc>gAc	p.A405D	CYP2U1_ENST00000508453.1_Missense_Mutation_p.A196D|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	405					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A405D(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TACACAGAAGCCACCATCATG	0.498000													19	41					8.00594e-06	9.49987e-06	0.043863	1	0
WLS	79971	broad.mit.edu	37	1	68620819	68620819	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:68620819T>C	ENST00000262348.4	-	4	882	c.629A>G	c.(628-630)aAt>aGt	p.N210S	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.N119S|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Missense_Mutation_p.N208S|WLS_ENST00000540432.1_Missense_Mutation_p.N210S|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	210	Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	p.N208S(1)|p.N210S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AATTCCCACATTGATTTTCTT	0.423000													81	182					0	0	0.014410	0	0
ZNF169	169841	broad.mit.edu	37	9	97054749	97054749	+	Splice_Site	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr9:97054749G>T	ENST00000480716.1	+	2	215	c.160_splice	c.e2+1	p.G54_splice	ZNF169_ENST00000375354.4_Splice_Site_p.G54_splice|ZNF169_ENST00000395395.2_Splice_Site_p.G54_splice|ZNF169_ENST00000481550.2_Splice_Site_p.G54_splice|ZNF169_ENST00000340911.4_Splice_Site_p.G54_splice			Q14929	ZN169_HUMAN	zinc finger protein 169	54	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G54*(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGTCTCCCTGGGTAAGGCTGG	0.483000													6	32					2.0095e-06	2.4192e-06	0.029380	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39915029	39915029	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:39915029G>C	ENST00000425673.1	+	17	3494	c.3169G>C	c.(3169-3171)Gat>Cat	p.D1057H	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D1086H|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D1027H|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1086					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	Rho guanyl-nucleotide exchange factor activity	p.D1044H(1)|p.D1027H(1)|p.D1086H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAGCAGCCTGGATCCCCAGGG	0.582000													19	45					0	0	0.038395	0	0
OR5T3	390154	broad.mit.edu	37	11	56020310	56020310	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:56020310C>A	ENST00000303059.3	+	1	635	c.635C>A	c.(634-636)cCt>cAt	p.P212H		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P212H(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGTGATATGCCTCCTCTCCTT	0.408000													91	187					3.60193e-44	6.20332e-44	0.014410	1	0
FAP	2191	broad.mit.edu	37	2	163066498	163066498	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:163066498C>T	ENST00000188790.4	-	12	1218	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E	FAP_ENST00000443424.1_Silent_p.E312E	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	337					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CTTCTATATGCTCCTGGGTCT	0.363000													10	72					0	0	0.013537	0	0
SMO	6608	broad.mit.edu	37	7	128851599	128851599	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:128851599G>T	ENST00000249373.3	+	11	2204	c.1924G>T	c.(1924-1926)Gtg>Ttg	p.V642L	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	642					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.V642L(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGTCACCCCTGTGGCAACTCC	0.602000			Mis		skin basal cell								19	48					7.45023e-12	1.06187e-11	0.010504	1	0
GBP5	115362	broad.mit.edu	37	1	89732742	89732742	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:89732742C>A	ENST00000343435.5	-	6	1059	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	GBP5_ENST00000370459.3_Missense_Mutation_p.D175Y|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	175						plasma membrane	GTP binding|GTPase activity	p.D175Y(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACACTAAGTCTGGGAAGAAG	0.488000													44	140					1.7489e-18	2.7108e-18	0.042209	1	0
KL	9365	broad.mit.edu	37	13	33634951	33634951	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr13:33634951C>A	ENST00000380099.3	+	4	1743	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	579	Glycosyl hydrolase-1 2.				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	p.Q579K(1)		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)		TGCTGCCATCCAGCCCCAGAT	0.498000													34	57					1.30998e-17	2.00541e-17	0.023175	1	0
LILRP2	79166	broad.mit.edu	37	19	55221511	55221511	+	RNA	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:55221511C>A	ENST00000413439.1	+	0	1291																											CTGGGCTCTCCCAGGCCAACT	0.637000													10	20					0.00829132	0.00882509	0.008291	1	0
DUOX1	53905	broad.mit.edu	37	15	45444641	45444641	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr15:45444641C>T	ENST00000321429.4	+	26	3758	c.3351C>T	c.(3349-3351)ctC>ctT	p.L1117L	DUOX1_ENST00000389037.3_Silent_p.L1117L|DUOX1_ENST00000561166.1_Silent_p.L763L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1117	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	p.L1117L(2)		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)		AAACCTTCCTCAACCGCTACG	0.612000													4	33					0	0	0.021553	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412058	105412058	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr14:105412058G>T	ENST00000333244.5	-	7	9849	c.9730C>A	c.(9730-9732)Ccc>Acc	p.P3244T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3244						nucleus		p.P3244T(1)		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)			TCTATCTGGGGGCCCTTGCGA	0.612000													21	61					1.04352e-10	1.43773e-10	0.017118	1	0
C19orf18	147685	broad.mit.edu	37	19	58472789	58472789	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:58472789C>T	ENST00000314391.3	-	5	603	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	168						integral to membrane		p.E168K(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		AGCTCATTTTCGTTCTCTGGA	0.488000													4	69					0	0	0.014758	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024510	55024510	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr18:55024510G>C	ENST00000324000.3	+	3	2703	c.669G>C	c.(667-669)ttG>ttC	p.L223F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	223					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.L223F(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ACAATCTCTTGACTATTCAGG	0.423000													13	49					0	0	0.013537	0	0
CACNA1E	777	broad.mit.edu	37	1	181726250	181726250	+	Silent	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:181726250G>T	ENST00000526775.1	+	29	4425	c.4260G>T	c.(4258-4260)ctG>ctT	p.L1420L	CACNA1E_ENST00000367567.4_Silent_p.L1046L|CACNA1E_ENST00000360108.3_Silent_p.L1420L|CACNA1E_ENST00000357570.5_Silent_p.L1390L|CACNA1E_ENST00000367573.2_Silent_p.L1439L|CACNA1E_ENST00000367570.1_Silent_p.L1439L|CACNA1E_ENST00000358338.5_Silent_p.L1371L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1439					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L1439L(2)		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						AGTGCAGCCTGGAGAAGAATG	0.468000													6	43					0.00116845	0.00128789	0.021553	1	0
SCAND3	114821	broad.mit.edu	37	6	28542849	28542849	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:28542849G>T	ENST00000452236.2	-	3	2250	c.1633C>A	c.(1633-1635)Cat>Aat	p.H545N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	545					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.H545N(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTTCTGTATGCAAGCTGGCA	0.403000													10	99					0.00621372	0.00664225	0.006214	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90502272	90502272	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr9:90502272G>T	ENST00000325643.5	+	4	2936	c.2870G>T	c.(2869-2871)gGg>gTg	p.G957V		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1									p.G957V(1)									AAGGGCAGGGGGTGTTCTCAG	0.622000													12	23					1.61879e-10	2.21801e-10	0.013537	1	0
ZNF516	9658	broad.mit.edu	37	18	74154250	74154250	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr18:74154250C>A	ENST00000443185.2	-	3	1078	c.761G>T	c.(760-762)gGc>gTc	p.G254V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G254V(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GAAGGCCTGGCCACACACCTC	0.682000													9	10					1.12685e-05	1.32445e-05	0.004482	1	0
ATG10	83734	broad.mit.edu	37	5	81460256	81460256	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:81460256T>G	ENST00000282185.3	+	4	549	c.255T>G	c.(253-255)atT>atG	p.I85M	ATG10_ENST00000513634.1_Missense_Mutation_p.I85M|ATG10_ENST00000458350.3_Missense_Mutation_p.I85M	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	85					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	p.I85M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GTGAAGTGATTGAAACTGCAG	0.378000													49	85					0	0	0.014410	0	0
PTPDC1	138639	broad.mit.edu	37	9	96859891	96859891	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr9:96859891A>G	ENST00000375360.3	+	7	1221	c.881A>G	c.(880-882)aAa>aGa	p.K294R	PTPDC1_ENST00000288976.3_Missense_Mutation_p.K346R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	294							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K346R(1)|p.K294R(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTAGTTTGCAAATTGCTGCTG	0.458000													14	56					0	0	0.016723	0	0
KCNH1	3756	broad.mit.edu	37	1	211192451	211192451	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:211192451G>T	ENST00000367007.4	-	6	875	c.706C>A	c.(706-708)Cct>Act	p.P236T	KCNH1_ENST00000271751.4_Missense_Mutation_p.P236T	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	236					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.P236T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACATTATAAGGGACCAAGATG	0.418000													44	58					2.47872e-24	4.07102e-24	0.039052	1	0
TBC1D22B	55633	broad.mit.edu	37	6	37250728	37250728	+	Splice_Site	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:37250728G>A	ENST00000373491.3	+	5	818	c.672_splice	c.e5+1	p.S224_splice		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	224	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.S224S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GACTCCTGTCGGTGAGTTCTA	0.483000													9	21					0	0	0.004482	0	0
FZD2	2535	broad.mit.edu	37	17	42635330	42635330	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:42635330C>T	ENST00000315323.3	+	1	406	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	92	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.L92L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGCTTCTTCCTGTGCTCCAT	0.642000													5	78					0	0	0.029380	0	0
TMEM204	79652	broad.mit.edu	37	16	1604799	1604799	+	Silent	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr16:1604799C>A	ENST00000566264.1	+	3	1156	c.453C>A	c.(451-453)atC>atA	p.I151I	IFT140_ENST00000439987.2_Intron|TMEM204_ENST00000253934.5_Silent_p.I151I|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	151					response to stress	adherens junction|integral to membrane		p.I151I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				TCCTGGTCATCGGGCTCGTGA	0.587000													35	67					3.09479e-21	4.95166e-21	0.027894	1	0
SCN10A	6336	broad.mit.edu	37	3	38770309	38770309	+	Silent	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:38770309C>G	ENST00000449082.2	-	15	2363	c.2364G>C	c.(2362-2364)ggG>ggC	p.G788G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	788					sensory perception	voltage-gated sodium channel complex		p.G788G(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGTGAGGTTCCCCAGTGCCC	0.502000													5	50					0	0	0.014758	0	0
KMT2C	58508	broad.mit.edu	37	7	151873473	151873473	+	Missense_Mutation	SNP	G	G	A	rs141345566		TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:151873473G>A	ENST00000355193.2	-	38	9283	c.9065C>T	c.(9064-9066)aCc>aTc	p.T3022I	KMT2C_ENST00000262189.6_Missense_Mutation_p.T3022I					lysine (K)-specific methyltransferase 2C									p.T3022I(2)									CATGCTACTGGTACCAGACTG	0.478000													25	89					0	0	0.024334	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184793	32184793	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:32184793G>T	ENST00000375023.3	-	11	1928	c.1790C>A	c.(1789-1791)cCa>cAa	p.P597Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	597	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.P597K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AACGGGACATGGGTCACTCAG	0.582000													29	29					7.26314e-15	1.0851e-14	0.034045	1	0
KRT1	3848	broad.mit.edu	37	12	53072009	53072009	+	Splice_Site	SNP	T	T	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:53072009T>C	ENST00000252244.3	-	3	865		c.e3-2			NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1						complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCCTCATACCTGCAGGAAAGC	0.403000													9	25					0	0	0.006214	0	0
ZNF225	7768	broad.mit.edu	37	19	44635941	44635941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:44635941C>T	ENST00000262894.6	+	5	1454	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZNF225_ENST00000590612.1_Nonsense_Mutation_p.R392*|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R392*(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AAGACATGTGCGAGTCCACAG	0.428000													9	93					0	0	0.008291	0	0
ADARB1	104	broad.mit.edu	37	21	46604837	46604837	+	Splice_Site	SNP	G	G	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr21:46604837G>C	ENST00000539173.1	+	9	1951		c.e9-1		ADARB1_ENST00000348831.4_Splice_Site|ADARB1_ENST00000437626.1_Splice_Site|ADARB1_ENST00000360697.3_Splice_Site|ADARB1_ENST00000389863.4_Splice_Site	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1						adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.?(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TTCTCTCTTAGAACCAGCAGA	0.398000													10	116					0	0	0.008291	0	0
PCDH9	5101	broad.mit.edu	37	13	67801796	67801796	+	Silent	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr13:67801796C>G	ENST00000544246.1	-	2	1468	c.777G>C	c.(775-777)gtG>gtC	p.V259V	PCDH9_ENST00000377865.2_Silent_p.V259V|PCDH9_ENST00000377861.3_Silent_p.V259V|PCDH9_ENST00000328454.5_Silent_p.V259V|PCDH9_ENST00000456367.1_Silent_p.V259V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	259	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H260N(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGGAATATGCACCTCCACTT	0.468000													6	63					0	0	0.021553	0	0
OR51A7	119687	broad.mit.edu	37	11	4929304	4929304	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr11:4929304G>T	ENST00000359350.4	+	1	705	c.705G>T	c.(703-705)aaG>aaT	p.K235N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K235N(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		AGAGGCTTAAGGCCCTAAATA	0.478000													35	124					9.78485e-24	1.59648e-23	0.013726	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573077	140573077	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:140573077A>T	ENST00000239446.4	+	1	1136	c.952A>T	c.(952-954)Aat>Tat	p.N318Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		318	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.N318Y(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTACAAAATAAATATACAGGC	0.378000													7	156					0	0	0.038147	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354495	28354495	+	Silent	SNP	T	T	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr16:28354495T>C	ENST00000532254.1	-	7	1396	c.711A>G	c.(709-711)gcA>gcG	p.A237A	NPIPB6_ENST00000533640.1_Silent_p.A219A					nuclear pore complex interacting protein family, member B6									p.A237A(2)									GATGCTCCGCTGCCACCATTC	0.493000													5	73					0	0	0.014758	0	0
TTC6	319089	broad.mit.edu	37	14	38266096	38266096	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr14:38266096G>A	ENST00000553443.1	+	20	3973	c.3973G>A	c.(3973-3975)Gag>Aag	p.E1325K	TTC6_ENST00000476979.1_Missense_Mutation_p.E56K|TTC6_ENST00000267368.7_Missense_Mutation_p.E56K|TTC6_ENST00000554555.1_3'UTR|TTC6_ENST00000382320.3_Missense_Mutation_p.E39K					tetratricopeptide repeat domain 6									p.E1325K(1)|p.E56K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GAATAGAGCTGAGATGACCAT	0.408000													10	129					0	0	0.008291	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871354	51871354	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr20:51871354T>A	ENST00000371497.5	+	2	2244	c.1357T>A	c.(1357-1359)Tgt>Agt	p.C453S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.C450S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.C450S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	453					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C453S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCATCAGATTGTACAGCCTC	0.458000													31	94					0	0	0.037714	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369625	86369625	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr13:86369625G>T	ENST00000400286.2	-	2	1617	c.1019C>A	c.(1018-1020)cCa>cAa	p.P340Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	340	LRRNT 2.					integral to membrane		p.P340K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAGTCCTGATGGGGATAGGAC	0.448000													35	75					7.61165e-28	1.25846e-27	0.017118	1	0
AGTR2	186	broad.mit.edu	37	X	115304043	115304043	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:115304043G>A	ENST00000371906.4	+	3	700	c.510G>A	c.(508-510)atG>atA	p.M170I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	170					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.M170I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TTTGGTGTATGGCCTGTTTGT	0.418000													17	280					0	0	0.038395	0	0
TMEM257	9142	broad.mit.edu	37	X	144909297	144909297	+	Silent	SNP	A	A	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:144909297A>G	ENST00000408967.2	+	1	370	c.102A>G	c.(100-102)ctA>ctG	p.L34L		NM_004709.2	NP_004700.1			transmembrane protein 257									p.L34L(1)									TTAACTCACTAGCATCCCCAC	0.279000													31	83					0	0	0.034045	0	0
CNTN2	6900	broad.mit.edu	37	1	205035635	205035635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:205035635G>A	ENST00000331830.4	+	15	2167	c.1883G>A	c.(1882-1884)tGg>tAg	p.W628*		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	628	Fibronectin type-III 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.W628*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCTCAGCTGGAGCCGTGGC	0.607000													19	30					0	0	0.008871	0	0
RAB3B	5865	broad.mit.edu	37	1	52442781	52442781	+	Silent	SNP	T	T	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:52442781T>C	ENST00000371655.3	-	2	221	c.9A>G	c.(7-9)tcA>tcG	p.S3S		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	3					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.S3S(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						CATCTGTCACTGAAGCCATCT	0.468000													22	58					0	0	0.012319	0	0
ZNF813	126017	broad.mit.edu	37	19	53995018	53995018	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:53995018C>T	ENST00000396403.4	+	4	1660	c.1532C>T	c.(1531-1533)gCa>gTa	p.A511V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A511V(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACACACCTTGCATGTCATCAT	0.388000													3	37					0	0	0.004672	0	0
SRPRB	58477	broad.mit.edu	37	3	133525539	133525539	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:133525539T>G	ENST00000466490.2	+	3	526	c.241T>G	c.(241-243)Ttt>Gtt	p.F81V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	81						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.F81V(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AACGTTGCTCTTTGTCAGGGT	0.403000													5	75					0	0	0.021553	0	0
CDH12	1010	broad.mit.edu	37	5	21975427	21975427	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:21975427G>A	ENST00000382254.1	-	6	1385	c.299C>T	c.(298-300)aCc>aTc	p.T100I	CDH12_ENST00000522262.1_Missense_Mutation_p.T100I|CDH12_ENST00000504376.2_Missense_Mutation_p.T100I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	100	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T100I(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTAAAAACGGTGCCAGCGCC	0.493000										HNSCC(59;0.17)			44	112					0	0	0.014410	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28327084	28327084	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr21:28327084G>T	ENST00000284987.5	-	2	1332	c.1211C>A	c.(1210-1212)gCa>gAa	p.A404E		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	404	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A404E(1)|p.A404V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGTGAAGGCTGCGTGGAGGCC	0.502000													12	59					6.72482e-11	9.31707e-11	0.024245	1	0
HCLS1	3059	broad.mit.edu	37	3	121356023	121356023	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:121356023C>G	ENST00000314583.3	-	7	626	c.535G>C	c.(535-537)Gga>Cga	p.G179R	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Intron	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	179					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.G179R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCCGTCTCTCCCTTGTAGTCA	0.542000													18	33					0	0	0.008871	0	0
TEX37	200523	broad.mit.edu	37	2	88828809	88828809	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:88828809G>T	ENST00000303254.3	+	4	502	c.360G>T	c.(358-360)caG>caT	p.Q120H		NM_152670.2	NP_689883.1			testis expressed 37									p.Q120H(1)									ACCTGGCCCAGGGTGACCCCA	0.592000													23	64					6.44725e-10	8.6428e-10	0.014323	1	0
OR11H12	440153	broad.mit.edu	37	14	19377684	19377684	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr14:19377684G>T	ENST00000550708.1	+	1	163	c.91G>T	c.(91-93)Ggt>Tgt	p.G31C		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G31C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATACTCCAAGGTTTCACTTG	0.413000													21	148					7.45023e-12	1.06187e-11	0.010504	1	0
CASS4	57091	broad.mit.edu	37	20	55012553	55012553	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr20:55012553C>A	ENST00000371336.3	+	2	571	c.370C>A	c.(370-372)Cag>Aag	p.Q124K	CASS4_ENST00000360314.3_Missense_Mutation_p.Q124K|CASS4_ENST00000434344.1_Missense_Mutation_p.Q124K	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	124					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.Q124K(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGAGGGGCCCCAGCCCCCTAC	0.582000													23	90					5.35356e-11	7.50103e-11	0.016522	1	0
S100A13	6284	broad.mit.edu	37	1	153591462	153591462	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:153591462G>C	ENST00000368699.1	-	5	709	c.206C>G	c.(205-207)tCg>tGg	p.S69W	S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Missense_Mutation_p.S69W|S100A13_ENST00000440685.2_Missense_Mutation_p.S69W|S100A13_ENST00000392622.1_Missense_Mutation_p.S69W|S100A13_ENST00000392623.1_Missense_Mutation_p.S69W	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	69					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding	p.S69W(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)	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)		Amlexanox(DB01025)	CTTGAGCTCCGAGTCCTGATT	0.483000													15	407					0	0	0.043863	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530567	125530567	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:125530567C>A	ENST00000431078.1	+	17	3086	c.2722C>A	c.(2722-2724)Ctg>Atg	p.L908M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	908	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L908M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCATTTTCGACTGCAGCTGAA	0.532000													38	81					3.09479e-21	4.95166e-21	0.027894	1	0
ZNF551	90233	broad.mit.edu	37	19	58196753	58196753	+	Splice_Site	SNP	G	G	T	rs142211450	by1000genomes	TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:58196753G>T	ENST00000282296.5	+	2	390	c.205_splice	c.e2+1	p.G69_splice	AC003006.7_ENST00000596085.1_Splice_Site_p.D53_splice|ZNF551_ENST00000356715.4_Splice_Site_p.G53_splice|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000599402.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G53C(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACATCCCTGGGTAAGGCCCT	0.478000													22	175					6.32553e-13	9.12053e-13	0.024334	1	0
NCKAP5	344148	broad.mit.edu	37	2	133543111	133543111	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr2:133543111C>T	ENST00000409261.1	-	14	1646	c.1273G>A	c.(1273-1275)Ggt>Agt	p.G425S	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G425S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	425							protein binding	p.G425S(1)		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						TCTTTATAACCCCATTTGGTT	0.438000													5	81					0	0	0.021553	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222229	140222229	+	Silent	SNP	G	G	A			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr5:140222229G>A	ENST00000531613.1	+	1	1323	c.1323G>A	c.(1321-1323)ttG>ttA	p.L441L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.L441L	NM_018911.2	NP_061734.1												p.L441F(2)|p.L441L(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCAGCTTGTCTGTGGAGG	0.662000													6	89					0	0	0.029380	0	0
BACH2	60468	broad.mit.edu	37	6	90660894	90660894	+	Missense_Mutation	SNP	G	G	A	rs148083597	byFrequency	TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr6:90660894G>A	ENST00000257749.4	-	7	1638	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.R311W|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.R311W	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	311						nucleus	protein dimerization activity|sequence-specific DNA binding	p.R311W(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGCTGTTTCCGGTCCATCTCG	0.647000													6	36					0	0	0.021553	0	0
SDK1	221935	broad.mit.edu	37	7	3991446	3991446	+	Silent	SNP	C	C	T			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr7:3991446C>T	ENST00000404826.2	+	7	1183	c.1044C>T	c.(1042-1044)acC>acT	p.T348T	SDK1_ENST00000389531.3_Silent_p.T348T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	348	Ig-like C2-type 3.				cell adhesion	integral to membrane		p.T348T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACGCCTCACCATCAGCAACC	0.617000													8	97					0	0	0.038147	0	0
LUM	4060	broad.mit.edu	37	12	91502379	91502379	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr12:91502379G>C	ENST00000266718.4	-	2	832	c.378C>G	c.(376-378)aaC>aaG	p.N126K	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	126					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.N126K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CTGTCAGGTTGTTGTGGTTTA	0.418000													20	74					0	0	0.010504	0	0
RSBN1	54665	broad.mit.edu	37	1	114308968	114308986	+	Frame_Shift_Del	DEL	ATTTCTAGGGATGAAGTAG	ATTTCTAGGGATGAAGTAG	-			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr1:114308968_114308986delATTTCTAGGGATGAAGTAG	ENST00000261441.5	-	7	2088_2106	c.2025_2043delCTACTTCATCCCTAGAAAT	c.(2023-2043)atfs	p.IYFIPRN675fs	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	675						nucleus		p.F677F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAATGACATTTCTAGGGATGAAGTAGATATCATTGT	0.438													37	137	---	---	---	---					
STXBP5L	9515	broad.mit.edu	37	3	120998798	120998798	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr3:120998798delT	ENST00000273666.6	+	19	2376	c.2105delT	c.(2104-2106)atfs	p.I702fs	STXBP5L_ENST00000472879.1_Frame_Shift_Del_p.I702fs|STXBP5L_ENST00000497029.1_Frame_Shift_Del_p.I702fs|STXBP5L_ENST00000471454.1_Frame_Shift_Del_p.I702fs|STXBP5L_ENST00000492541.1_Frame_Shift_Del_p.I702fs	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	702					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAACAGTTCATTGCAGGTAGG	0.368													15	55	---	---	---	---					
LTBP2	4053	broad.mit.edu	37	14	74989609	74989610	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr14:74989609_74989610insTT	ENST00000261978.4	-	16	2928_2929	c.2542_2543insAA	c.(2542-2544)cgcfs	p.R848fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.R848fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	848	EGF-like 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCAGCAGCGCATCTGTCAATG	0.619													7	19	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													2	4	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546141	3546141	+	RNA	DEL	A	A	-	rs74546027		TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr16:3546141delA	ENST00000574423.2	+	0	111																											actccgtctcaaaaaaaaaaa	0.557													2	4	---	---	---	---					
KRT13	3860	broad.mit.edu	37	17	39658805	39658806	+	Frame_Shift_Ins	INS	-	-	A	rs148296285	byFrequency	TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr17:39658805_39658806insA	ENST00000246635.3	-	6	1110_1111	c.1064_1065insT	c.(1063-1065)ctafs	p.L355fs	KRT13_ENST00000587544.1_Frame_Shift_Ins_p.L355fs|KRT13_ENST00000336861.3_Frame_Shift_Ins_p.L355fs	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	355	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCAGGGCATAGCGGCACTCCGT	0.599													11	107	---	---	---	---					
GATAD2A	54815	broad.mit.edu	37	19	19612093	19612093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chr19:19612093delC	ENST00000404158.1	+	11	1789	c.1371delC	c.(1369-1371)agfs	p.S457fs	GATAD2A_ENST00000429563.2_Frame_Shift_Del_p.S284fs|GATAD2A_ENST00000358713.3_Frame_Shift_Del_p.S456fs|GATAD2A_ENST00000252577.5_Frame_Shift_Del_p.S456fs|GATAD2A_ENST00000537887.1_Frame_Shift_Del_p.S85fs|GATAD2A_ENST00000360315.3_Frame_Shift_Del_p.S456fs			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	456					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGCACACCAGCCGGCTGAAGG	0.637													7	31	---	---	---	---					
BMX	660	broad.mit.edu	37	X	15544216	15544219	+	Splice_Site	DEL	TGAG	TGAG	-			TCGA-67-6217-01A-11D-1753-08	TCGA-67-6217-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb98d825-668f-4b16-a05e-501e1c94f3fe	3f3bd303-83e1-4896-8c92-b287da34fbf8	g.chrX:15544216_15544219delTGAG	ENST00000357607.2	+	9	1070_1072	c.884_splice	c.e9+1	p.*294_splice	BMX_ENST00000348343.6_Splice_Site_p.*294_splice|BMX_ENST00000342014.6_Splice_Site_p.*294_splice			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	294					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)					TGGATGATTATGAGTGAGTATTGA	0.387													10	131	---	---	---	---					
