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
PNMA2	10687	broad.mit.edu	37	8	26365435	26365435	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:26365435C>T	ENST00000522362.2	-	3	1731	c.837G>A	c.(835-837)gcG>gcA	p.A279A		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	279					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gtttctccaccgctctccgga	0.602000													5	46					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40102431	40102431	+	Silent	SNP	G	G	A	rs145734382	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:40102431G>A	ENST00000181839.4	+	8	3212	c.2607G>A	c.(2605-2607)ccG>ccA	p.P869P	CDK13_ENST00000340829.5_Silent_p.P869P|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	869	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTAGTCGGCCGTATACTAACA	0.388000													24	207					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165809221	165809221	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:165809221A>G	ENST00000303735.4	-	2	387	c.57T>C	c.(55-57)gtT>gtC	p.V19V	SLC38A11_ENST00000409662.1_Silent_p.V19V|SLC38A11_ENST00000409149.3_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	19					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTTACCTGTAACATATGAAA	0.363000													5	29					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239963	5239963	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:5239963C>T	ENST00000274181.7	+	16	2586	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	816	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCACTACTTTCGACTACAGAC	0.517000													15	71					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27372111	27372111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:27372111C>T	ENST00000395762.2	+	10	1133	c.874C>T	c.(874-876)Cga>Tga	p.R292*	IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	292					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAGCGGTCCCGAGGCCAGGA	0.557000													28	65					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979029	58979029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:58979029C>T	ENST00000361050.3	-	1	1395	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	437						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGTGCACTTTCGATGACACTC	0.532000													5	83					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407509	38407509	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:38407509G>A	ENST00000351773.3	+	8	2260	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF37A_ENST00000361085.4_Missense_Mutation_p.R477H	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAAACCTTCCGTCAGAAGTCA	0.403000													29	57					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101871	69101871	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:69101871T>C	ENST00000332644.5	-	3	399	c.238A>G	c.(238-240)Aag>Gag	p.K80E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	80	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGATTTACCTTAGTCTCAATA	0.284000													11	20					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70820236	70820236	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70820236G>A	ENST00000261776.5	-	2	397	c.137C>T	c.(136-138)aCc>aTc	p.T46I		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	46					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GATTTGCACGGTATTGTTCTG	0.642000													14	34					0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68717386	68717386	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:68717386T>C	ENST00000303795.4	+	2	332	c.161T>C	c.(160-162)aTc>aCc	p.I54T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	54	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAGCTGCGAATCAAACCGGTA	0.368000													3	8					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37697698	37697698	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:37697698G>A	ENST00000315215.7	+	14	2283	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	GPR124_ENST00000412232.2_Silent_p.A857A			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	857					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGTGAAGGCGCGAGTGCTCC	0.632000													14	32					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685313	100685313	+	Missense_Mutation	SNP	C	C	T	rs138135476		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100685313C>T	ENST00000306151.4	+	3	10680	c.10616C>T	c.(10615-10617)aCa>aTa	p.T3539I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3539	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					ACCCTTTCAACAACTCCTGTT	0.483000													19	386					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244724125	244724125	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:244724125G>A	ENST00000366534.4	+	10	1239	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000366533.4_Silent_p.E395E|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	395						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGGGTTGAGTATACAGGAC	0.368000													25	51					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17428224	17428224	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17428224C>T	ENST00000302539.4	-	26	3402	c.3277G>A	c.(3277-3279)Gtg>Atg	p.V1093M	ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1092	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCTTGGCCACCTTCAGCCCT	0.607000													13	38					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14070466	14070466	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14070466G>A	ENST00000254337.6	+	8	1313	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	431										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CGGCCCATGCGGGAGCGGACT	0.692000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	52					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103867967	103867967	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:103867967G>A	ENST00000361198.5	-	11	1634	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	LDB1_ENST00000425280.1_Silent_p.D373D	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	373	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.D373D(1)|p.D337D(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TGTCCTCGTCGTCAATGCCGT	0.622000													5	67					0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46111238	46111238	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:46111238G>A	ENST00000006101.4	-	4	252	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	87					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CTCTCAGTCCGGCTGGTCTTG	0.483000													3	13					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3427388	3427388	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:3427388T>C	ENST00000356575.4	-	10	1419	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	398	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTAGCCGGCGTAGCAGCCGCA	0.682000													4	28					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20235872	20235872	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:20235872C>T	ENST00000361479.5	+	8	1894	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	609					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATGCTTGCCGCCGCCGGAGGG	0.502000													18	120					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129931001	129931001	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:129931001C>T	ENST00000259351.5	+	10	1059	c.792C>T	c.(790-792)tcC>tcT	p.S264S	RALGPS1_ENST00000373434.1_Silent_p.S264S|RALGPS1_ENST00000394022.3_Silent_p.S264S|RALGPS1_ENST00000424082.2_Silent_p.S264S|RALGPS1_ENST00000373436.1_Silent_p.S264S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	264	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.S264S(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTGAAGTCCGTACGCTACA	0.527000													9	78					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12460321	12460321	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:12460321C>T	ENST00000358136.3	+	61	11848	c.11718C>T	c.(11716-11718)acC>acT	p.T3906T	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.T3881T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3905					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATCGAGACCGGCCCAGCTG	0.557000													10	31					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112463376	112463376	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:112463376C>A	ENST00000230538.7	-	20	3009	c.2612G>T	c.(2611-2613)cGg>cTg	p.R871L	LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L|LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	871	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTCCGGCCGCTTCACAGG	0.473000													17	38					1.5739e-10	1.67165e-10	1	1	0
ALCAM	214	broad.mit.edu	37	3	105260577	105260577	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:105260577G>A	ENST00000306107.5	+	8	1459	c.959G>A	c.(958-960)aGc>aAc	p.S320N	ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	320	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GACAAAAAAAGCATGATTGCT	0.428000													9	74					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26385530	26385530	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:26385530C>T	ENST00000356709.4	+	3	493	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R128C|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R128C|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R128C	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	128	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGGGATCTACCGCTGTTACTT	0.517000													11	17					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38937375	38937375	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:38937375G>A	ENST00000355481.4	+	9	898	c.767G>A	c.(766-768)cGc>cAc	p.R256H	RYR1_ENST00000359596.3_Missense_Mutation_p.R256H|RYR1_ENST00000360985.3_Missense_Mutation_p.R256H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	256	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTCATGCCCGCTCCCTCTGG	0.602000													15	36					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150469374	150469374	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:150469374C>T	ENST00000369064.3	+	9	1044	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TARS2_ENST00000463555.1_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	337					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.A337V(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GCACTAGTGGCGTTTATCAGG	0.527000													5	32					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	101995439	101995439	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:101995439G>T	ENST00000354105.4	-	13	1543	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	486							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AAACTGCAAAGGAAAATTCTT	0.363000													5	23					1	1	1	1	0
TICAM1	148022	broad.mit.edu	37	19	4817623	4817623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:4817623G>A	ENST00000248244.5	-	2	996	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	256	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCCGATGGCGGCCAGCTCAT	0.677000													3	28					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48212570	48212570	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:48212570G>A	ENST00000394747.1	-	23	3635	c.3286C>T	c.(3286-3288)Cgg>Tgg	p.R1096W	ABCC11_ENST00000356608.2_Missense_Mutation_p.R1096W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1096W|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1096W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1096	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGCCAATCCGGGCAGTGGCC	0.582000													5	55					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930848	54930848	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:54930848C>T	ENST00000474759.1	+	26	2367	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.A773A|CACNA2D3_ENST00000490478.1_Silent_p.A679A|CACNA2D3_ENST00000288197.5_Silent_p.A773A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	773						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACCGAAGAGCCGCTGAGCAGA	0.532000													22	37					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	247					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGTCCGGGTGCAGCGTCCAG	0.667000													12	19					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60773005	60773005	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:60773005C>T	ENST00000370823.3	+	4	468	c.450C>T	c.(448-450)ggC>ggT	p.G150G	MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		GGCGCAGTGGCGCCGTCCTCT	0.622000													12	35					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826531	23826531	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:23826531T>A	ENST00000354639.3	+	20	2870	c.2406T>A	c.(2404-2406)ccT>ccA	p.P802P	STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000433467.2_Silent_p.P825P|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAACATGCCTTTAAATTCAG	0.363000													7	89					0	0	1	0	0
ZNF367	195828	broad.mit.edu	37	9	99150564	99150564	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:99150564C>T	ENST00000375256.4	-	5	1304	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	336					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GCTCTATGAGCGCGAGGGCTC	0.577000													4	36					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148602758	148602758	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:148602758C>G	ENST00000241416.7	+	1	673	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V	ACVR2A_ENST00000535787.1_Intron|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	13				L -> V (in Ref. 4; BAA06548).	activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCGTCTTTCTTATCTCCTG	0.647000													14	23					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33612961	33612961	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33612961C>A	ENST00000291416.5	-	5	1478	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	415	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGACACCCACCTTGTCAAGCT	0.577000													12	50					3.07112e-06	3.18924e-06	1	1	0
ADAMTS6	11174	broad.mit.edu	37	5	64629882	64629882	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:64629882G>T	ENST00000536360.1	-	8	1917	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	368	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGTTCCACAGGGCTTATTTT	0.264000													10	26					1.58986e-06	1.6611e-06	1	1	0
SLC12A7	10723	broad.mit.edu	37	5	1083970	1083970	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1083970C>T	ENST00000264930.5	-	8	1062	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	340					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGAAGAGGCCCCAGAGCGC	0.652000													11	23					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716669	142716669	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:142716669G>A	ENST00000381779.4	-	2	2481	c.2256C>T	c.(2254-2256)agC>agT	p.S752S	SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	752						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAATCCCTGCTAGGGAATA	0.383000													17	63					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626076	48626076	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:48626076C>T	ENST00000328333.8	-	19	2693	c.2587_splice	c.e19+1	p.T862_splice	COL7A1_ENST00000454817.1_Splice_Site_p.T862_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	862	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			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)		TCTGCCTACGCGTAGTGACAA	0.587000													19	30					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849235	72849235	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72849235G>A	ENST00000344575.3	+	1	1127	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	300					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGCGCGCTCTACGT	0.632000													27	43					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39814776	39814776	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:39814776G>T	ENST00000216160.6	+	6	652	c.590G>T	c.(589-591)gGg>gTg	p.G197V	TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	197	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ACAGTGGATGGGTTGCAGGTG	0.527000													12	39					0.000151284	0.000154908	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129148510	129148510	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:129148510G>A	ENST00000540052.1	+	3	1806	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	BCORL1_ENST00000303743.5_Missense_Mutation_p.E588K|BCORL1_ENST00000359304.2_Missense_Mutation_p.E588K|BCORL1_ENST00000218147.7_Missense_Mutation_p.E588K	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	588	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTGGCACCGAGCAGCAAAC	0.612000													35	11					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117072950	117072950	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117072950A>G	ENST00000356083.3	+	61	5949	c.5558A>G	c.(5557-5559)gAa>gGa	p.E1853G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1853	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TACCGCCTGGAAGTTGGACCT	0.607000													11	29					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93572757	93572757	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:93572757G>A	ENST00000371627.4	+	2	596	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	73					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCGGAAAGACGTAGTTGAATA	0.383000													8	72					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14961816	14961816	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:14961816G>A	ENST00000453695.2	-	13	1161	c.717C>T	c.(715-717)tgC>tgT	p.C239C	DCLRE1C_ENST00000357717.2_Silent_p.C244C|DCLRE1C_ENST00000396817.2_Silent_p.C239C|DCLRE1C_ENST00000378246.2_Silent_p.C244C|DCLRE1C_ENST00000378258.1_Silent_p.C239C|DCLRE1C_ENST00000378242.1_Silent_p.C12C|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378254.1_Silent_p.C239C|DCLRE1C_ENST00000378255.1_Silent_p.C239C|DCLRE1C_ENST00000378249.1_Silent_p.C244C|DCLRE1C_ENST00000378278.2_Silent_p.C359C|DCLRE1C_ENST00000378289.4_Silent_p.C359C	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	359					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGGAAGACCGGCATAAAGGCT	0.378000								Non-homologous end-joining					5	65					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13644861	13644861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:13644861C>T	ENST00000011619.3	-	6	1086	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	p.R343L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTCCACTCCCGCATATAGTC	0.433000													23	61					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68844157	68844157	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:68844157T>G	ENST00000261769.5	+	6	936	c.745T>G	c.(745-747)Ttg>Gtg	p.L249V	CDH1_ENST00000422392.2_Missense_Mutation_p.L249V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	249	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATGGAGATTTTGATCACGGT	0.483000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				38	82					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17305687	17305687	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:17305687C>T	ENST00000595618.1	+	22	3603	c.3451C>T	c.(3451-3453)Cgt>Tgt	p.R1151C	MYO9B_ENST00000594824.1_Missense_Mutation_p.R1151C|MYO9B_ENST00000397274.2_Missense_Mutation_p.R1151C	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1151	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGTGAGTCGCGTCGGCAAAG	0.592000													19	35					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163317627	163317627	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:163317627C>T	ENST00000271452.3	+	12	1302	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NUF2_ENST00000524800.1_Silent_p.F294F|NUF2_ENST00000367900.3_Silent_p.F341F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	341	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAATTCGTTCAAAAGACTGA	0.338000													4	34					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005192	25005192	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:25005192C>T	ENST00000382114.4	-	8	1704	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	507						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGCGCCTGCACGTAAATCTCC	0.408000													11	57					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101921226	101921226	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:101921226C>T	ENST00000437600.4	+	18	1916	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.R478C|CUX1_ENST00000292538.4_Missense_Mutation_p.R524C|CUX1_ENST00000547394.2_Missense_Mutation_p.R508C|CUX1_ENST00000393824.3_Missense_Mutation_p.R485C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	335					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAGGAGAACCGCCTGGCCCA	0.642000													3	2					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20939447	20939447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:20939447C>T	ENST00000263205.7	+	16	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	675					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGAGCATCCCCAGTGTGCTC	0.642000													19	27					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013981	74013981	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74013981A>C	ENST00000301607.3	-	14	1802	c.1549T>G	c.(1549-1551)Tca>Gca	p.S517A	EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	517	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCAGGTCTGAGCCAGATGGA	0.657000													10	19					0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109838900	109838900	+	Missense_Mutation	SNP	C	C	T	rs142341673		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:109838900C>T	ENST00000357155.1	-	6	872	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	275	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTATTATAGCCGGTGACTGTA	0.592000													8	40					0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154179947	154179947	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:154179947T>A	ENST00000368521.5	-	7	942	c.744A>T	c.(742-744)acA>acT	p.T248T	C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Silent_p.T196T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	248						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCTCCAATGTGTTATAGT	0.507000													29	61					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44268380	44268380	+	Silent	SNP	C	C	T	rs142694525	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:44268380C>T	ENST00000244571.4	-	22	2864	c.2862G>A	c.(2860-2862)gcG>gcA	p.A954A	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	954					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GTGAGCCCCACGCCTTGCCCC	0.612000													18	42					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427900	134427900	+	Missense_Mutation	SNP	C	C	T	rs148068840		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:134427900C>T	ENST00000370766.3	-	3	2876	c.167G>A	c.(166-168)cGt>cAt	p.R56H	ZNF75D_ENST00000370764.1_Missense_Mutation_p.R56H|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	56	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCATGATAACGGAAGCTCCA	0.478000													4	54					0	0	1	0	0
AC010547.9	0	broad.mit.edu	37	16	71516014	71516014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:71516014C>T	ENST00000561908.1	-	3	506	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF19_ENST00000288177.5_Missense_Mutation_p.A2T|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T																							GGCATGGCTGCCATGACCTGG	0.493000													10	11					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43147834	43147834	+	RNA	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:43147834C>G	ENST00000522175.2	+	0	209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCAAGCTCCACAGAGCTG	0.582000													17	40					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113069447	113069447	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:113069447G>A	ENST00000409871.1	+	5	1081	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	227							nucleic acid binding|zinc ion binding	p.R227Q(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAATCAAACGAAAAGAACGT	0.368000													9	21					0	0	1	0	0
IL2RB	0	broad.mit.edu	37	22	37524301	37524301	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:37524301C>T	ENST00000216223.5	-	10	1689	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	497					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTCCTCCCCAGCCTCTC	0.692000													6	15					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100607859	100607859	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100607859C>T	ENST00000319509.7	+	5	2006	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCCAGAACGCCAGCCAGGAT	0.662000													9	21					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51639838	51639838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:51639838C>T	ENST00000375695.2	+	5	1408	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	363	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTGTCTGGCCCGGCCCTGT	0.617000										Multiple Myeloma(10;0.10)			9	11					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52156425	52156425	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:52156425G>A	ENST00000354534.5	+	15	2687	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	SCN8A_ENST00000550891.1_Missense_Mutation_p.V837M|SCN8A_ENST00000545061.1_Missense_Mutation_p.V837M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	837					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCTAGCAGACGTGGAGGGGCT	0.413000													19	56					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458599	16458599	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16458599C>T	ENST00000358432.5	-	13	2439	c.2285G>A	c.(2284-2286)cGc>cAc	p.R762H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	762	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCCAGCACGCGGGACAGGCC	0.607000													11	67					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726086	91726086	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:91726086C>T	ENST00000359028.2	+	41	10050	c.9825C>T	c.(9823-9825)aaC>aaT	p.N3275N	AKAP9_ENST00000356239.3_Silent_p.N3271N|AKAP9_ENST00000358100.2_Silent_p.N3221N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3275					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACTACTGAACGAATCCCAGC	0.383000			T	BRAF	papillary thyroid								6	69					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70516423	70516423	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70516423G>A	ENST00000535149.1	+	4	1035	c.392G>A	c.(391-393)cGt>cAt	p.R131H	NONO_ENST00000373841.1_Missense_Mutation_p.R220H|NONO_ENST00000373856.3_Missense_Mutation_p.R220H|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.R220H	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	220	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGATTTCCTCGTCCTGTGACT	0.438000			T	TFE3	papillary renal cancer								7	2					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231057237	231057237	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:231057237T>C	ENST00000366661.4	-	16	1835	c.1828A>G	c.(1828-1830)Aac>Gac	p.N610D	TTC13_ENST00000414259.1_Missense_Mutation_p.N557D|TTC13_ENST00000366662.4_Missense_Mutation_p.N557D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	610							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TATCTCATGTTGATCACCTGA	0.259000													6	47					0	0	1	0	0
SURF6	6838	broad.mit.edu	37	9	136199101	136199101	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136199101C>T	ENST00000372022.4	-	5	955	c.690G>A	c.(688-690)ccG>ccA	p.P230P	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	230						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCCGGTCAGCGGCGTGAGGT	0.672000													11	39					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176859091	176859091	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:176859091G>A	ENST00000355472.5	+	3	412	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	GRK6_ENST00000528793.1_Missense_Mutation_p.A82T|GRK6_ENST00000355958.5_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T|GRK6_ENST00000507633.1_Missense_Mutation_p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	82	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCGTCGCCTTCCTGGA	0.687000													23	42					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406194	144406194	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144406194G>T	ENST00000523676.1	-	8	1046	c.641C>A	c.(640-642)gCg>gAg	p.A214E	TOP1MT_ENST00000521193.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.A312E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A214E			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	312					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CAGGGCCACCGCCCGCTGTCT	0.582000													21	46					1.00905e-13	1.0852e-13	1	1	0
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:154490316G>A	ENST00000369454.3	-	2	714	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488000													48	26					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61495643	61495643	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:61495643G>A	ENST00000257215.5	+	7	771	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	219					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCAGAAATCGCCTACCTCTT	0.617000													5	77					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77935578	77935578	+	Missense_Mutation	SNP	G	G	A	rs141659647		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:77935578G>A	ENST00000216479.3	+	9	1163	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	335					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGCTATGGCGCACGCTTATT	0.587000													26	69					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129899559	129899559	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:129899559G>A	ENST00000368654.3	-	14	10043	c.9668C>T	c.(9667-9669)aCg>aTg	p.T3223M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2863M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3223					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GACACTCCGCGTTACTCTCTG	0.433000													7	74					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36363411	36363411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:36363411G>A	ENST00000221891.4	+	7	1069	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	APLP1_ENST00000586861.1_Missense_Mutation_p.G287S|APLP1_ENST00000537454.2_Missense_Mutation_p.G254S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	293					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCACAGACGGTGTGGATAT	0.567000													26	87					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96081787	96081787	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:96081787G>A	ENST00000260766.3	+	30	7106	c.6472G>A	c.(6472-6474)Gtc>Atc	p.V2158I	PLCE1_ENST00000371380.2_Missense_Mutation_p.V2158I|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.V1850I|PLCE1_ENST00000371385.3_Missense_Mutation_p.V1850I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2158	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCACCCCGCGTCAGCACTGC	0.478000													14	23					0	0	1	0	0
TERF2	7014	broad.mit.edu	37	16	69400909	69400909	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:69400909A>G	ENST00000254942.3	-	7	1157	c.1141T>C	c.(1141-1143)Tca>Cca	p.S381P	TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	339					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCCGGGGCTGAACTTTCGTTT	0.517000													19	31					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359674	16359674	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:16359674C>A	ENST00000354981.2	-	19	3130	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	991	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAAAATCTCCTTTTCCTTTT	0.547000													31	78					1.75199e-13	1.88027e-13	1	1	0
PLAA	9373	broad.mit.edu	37	9	26925851	26925851	+	Missense_Mutation	SNP	C	C	T	rs138585651	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:26925851C>T	ENST00000397292.3	-	6	1258	c.841G>A	c.(841-843)Gac>Aac	p.D281N	PLAA_ENST00000520884.1_Missense_Mutation_p.D281N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	281					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCACCATTGTCGAGCACACAG	0.433000													19	77					0	0	1	0	0
STAG3L2	0	broad.mit.edu	37	7	74301240	74301240	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:74301240C>T	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCAGATAGCACGGATCTCAGG	0.458000													55	131					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608948	33608948	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33608948G>A	ENST00000170564.2	+	16	2727		c.e16+1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1							catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTGGCTCACGGTATGTCAGTA	0.478000													7	20					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47677762	47677762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47677762C>T	ENST00000393331.3	-	12	1573	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H|SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	368					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGCGTTTGCGTGGGGGTCC	0.542000										Prostate(2;0.17)			10	162					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002368	3002368	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:3002368G>A	ENST00000381127.1	+	6	712	c.491G>A	c.(490-492)gGc>gAc	p.G164D	ARSF_ENST00000359361.2_Missense_Mutation_p.G164D|ARSF_ENST00000537104.1_Missense_Mutation_p.G164D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	164						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACTACTATGGCATGCCGTTC	0.517000													4	35					0	0	1	0	0
EIF2B1	1967	broad.mit.edu	37	12	124106408	124106408	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:124106408C>T	ENST00000424014.2	-	9	1021	c.813G>A	c.(811-813)ccG>ccA	p.P271P	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	271					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTCGACCCACGGATGCTCCT	0.512000													4	22					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931034	73931034	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:73931034A>G	ENST00000302351.4	-	2	2407	c.1277T>C	c.(1276-1278)aTg>aCg	p.M426T	ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000510316.1_Missense_Mutation_p.M353T	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	426					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGGGCCACCATGGTCCATTT	0.552000													20	45					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367308	105367308	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:105367308C>T	ENST00000297581.2	+	3	1282	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	411					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.S411R(1)									TCTACCCCAGCGTGGAGAGGA	0.438000													27	44					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1445045	1445045	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000353088.2_Silent_p.D44D|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000476071.1_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522000													28	73					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57985397	57985397	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:57985397C>T	ENST00000343280.4	-	5	975	c.715G>A	c.(715-717)Gag>Aag	p.E239K	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.E198K|ZNF772_ENST00000427512.2_Missense_Mutation_p.E127K|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GCATGGTGCTCGAAAATGCTT	0.498000													4	47					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722826	145722826	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:145722826C>T	ENST00000292539.4	+	2	1166	c.249C>T	c.(247-249)gaC>gaT	p.D83D	PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	83						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGAAATGACCTGGAAGAAG	0.662000													5	22					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796901	127796901	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:127796901G>A	ENST00000556132.1	-	6	3134	c.2270C>T	c.(2269-2271)gCg>gTg	p.A757V	SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000525778.1_Missense_Mutation_p.A757V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	757						integral to membrane											CTTCTTGCCCGCGTCGCTCTC	0.697000													7	40					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91645133	91645133	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:91645133G>A	ENST00000509176.1	+	7	2289	c.2001G>A	c.(1999-2001)gtG>gtA	p.V667V	CCSER1_ENST00000432775.2_Silent_p.V667V|CCSER1_ENST00000504150.1_3'UTR|CCSER1_ENST00000333691.8_Silent_p.V667V	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AAGAGCCAGTGCCTTTCAAGG	0.343000													3	8					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66413286	66413286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66413286G>A	ENST00000341529.3	+	2	194	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	16					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGCCTGCCTGGGCCTGCTGGC	0.627000													23	59					0	0	1	0	0
IGLC2	0	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													5	43					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815747	56815747	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56815747G>A	ENST00000229201.4	-	21	2729	c.2575C>T	c.(2575-2577)Cgc>Tgc	p.R859C	TIMELESS_ENST00000553532.1_Missense_Mutation_p.R860C|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R357C	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	860					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCTGCTTGCGTGTTCGAGGA	0.542000													6	85					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107592541	107592541	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:107592541C>T	ENST00000393561.1	-	21	3463	c.3279G>A	c.(3277-3279)gcG>gcA	p.A1093A	LAMB1_ENST00000222399.6_Silent_p.A1069A			P07942	LAMB1_HUMAN	laminin, beta 1	1069	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTATTGGGCGCACAGCGGT	0.572000													3	11					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43285947	43285947	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:43285947G>A	ENST00000374518.4	+	5	687	c.624G>A	c.(622-624)acG>acA	p.T208T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	208					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCTGGACGGAAGTTTACC	0.413000													24	50					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160314573	160314573	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:160314573C>A	ENST00000368063.1	+	3	367	c.87C>A	c.(85-87)ccC>ccA	p.P29P	NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000294785.5_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P			Q92542	NICA_HUMAN	nicastrin	49					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGCTCCCTGTGTTCGCC	0.428000													4	23					0.00024832	0.000253761	1	1	0
FBXL22	283807	broad.mit.edu	37	15	63889730	63889730	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:63889730G>A	ENST00000360587.2	+	1	179	c.139G>A	c.(139-141)Gca>Aca	p.A47T	FBXL22_ENST00000539570.3_Missense_Mutation_p.A41T|FBXL22_ENST00000534939.1_Missense_Mutation_p.A47T|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000558831.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	41										lung(4)	4						TGAGGACCCCGCACTCTGGTC	0.622000													6	19					0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56705008	56705008	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56705008G>T	ENST00000273308.4	-	4	935	c.395C>A	c.(394-396)aCc>aAc	p.T132N	RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	132	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						AAACTTGAGGGTGCCGCTAAT	0.493000													51	90					1.00221e-16	1.08697e-16	1	1	0
PCDHA12	0	broad.mit.edu	37	5	140256668	140256668	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140256668G>A	ENST00000398631.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687000													50	97					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72040605	72040605	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72040605C>T	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TAATCCTTTGCGCTGAACGTT	0.428000													15	28					0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16625316	16625316	+	Missense_Mutation	SNP	G	G	A	rs111870653		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:16625316G>A	ENST00000221671.3	+	7	1900	c.1744G>A	c.(1744-1746)Gct>Act	p.A582T	C19orf44_ENST00000594035.1_Missense_Mutation_p.A550T|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	582										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGCCCTGACCGCTTACAGCCC	0.672000													4	12					0	0	1	0	0
RPUSD1	113000	broad.mit.edu	37	16	836359	836359	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:836359C>A	ENST00000561734.1	-	5	773	c.530G>T	c.(529-531)cGc>cTc	p.R177L	RPUSD1_ENST00000567114.1_Missense_Mutation_p.R48L|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R177L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	177					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCAGTGCACGCGCAGCTGGTG	0.687000													6	55					0.0293803	0.0294953	1	1	0
OGFOD3	79701	broad.mit.edu	37	17	80356123	80356123	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80356123G>A	ENST00000313056.5	-	8	923	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	OGFOD3_ENST00000329197.5_Missense_Mutation_p.R258W	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		AACATGAACCGCCCTCCGCCG	0.667000													12	21					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120776691	120776691	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:120776691C>T	ENST00000263713.5	+	2	245	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	11						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AACACTAGGGCGTCGGTCTAT	0.453000													10	124					0	0	1	0	0
NANP	140838	broad.mit.edu	37	20	25596622	25596622	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:25596622G>A	ENST00000304788.3	-	2	912	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	229					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						CTCTAGCACAGAAGAAACCAT	0.408000													14	63					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101183001	101183001	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:101183001C>T	ENST00000264254.6	+	2	421	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	15					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGACATCTTACGCAAAAAGGG	0.517000													8	58					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800604	84800604	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:84800604C>T	ENST00000389394.3	+	12	1954	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V|DNAH6_ENST00000237449.6_Missense_Mutation_p.A606V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	606	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACCATTCAGGCCGCATTTGAA	0.328000													8	54					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183676	55183676	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:55183676C>T	ENST00000337714.3	+	2	1084	c.851C>T	c.(850-852)gCg>gTg	p.A284V	AKAP1_ENST00000571629.1_Missense_Mutation_p.A284V|AKAP1_ENST00000314126.3_Missense_Mutation_p.A284V|AKAP1_ENST00000572557.1_Missense_Mutation_p.A284V|AKAP1_ENST00000539273.1_Missense_Mutation_p.A284V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	284					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGGACGATGCGGCGCCAGCA	0.582000													16	71					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39301676	39301676	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:39301676G>A	ENST00000381897.1	-	21	2909	c.2776C>T	c.(2776-2778)Cgg>Tgg	p.R926W	RFC1_ENST00000349703.2_Missense_Mutation_p.R925W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	926					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCTTACTCCGGATCTGGCTG	0.493000													5	41					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101060605	101060605	+	Missense_Mutation	SNP	C	C	T	rs151073689	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:101060605C>T	ENST00000394095.2	-	15	2178	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	SENP7_ENST00000358203.3_Missense_Mutation_p.A545T|SENP7_ENST00000348610.3_Missense_Mutation_p.A676T|SENP7_ENST00000394094.2_Missense_Mutation_p.A644T|SENP7_ENST00000314261.7_Missense_Mutation_p.A643T|SENP7_ENST00000394091.1_Missense_Mutation_p.A545T	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	709					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAGGCTTGGCCGCATCTGTG	0.443000													7	38					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67300093	67300093	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67300093C>T	ENST00000299798.11	+	15	2248	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	728					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGGCTCGTGCCACCAGTGAG	0.557000													7	14					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50302915	50302915	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:50302915G>T	ENST00000354293.5	+	10	1330	c.1164G>T	c.(1162-1164)cgG>cgT	p.R388R	AP2A1_ENST00000359032.5_Silent_p.R388R	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	388					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCGGCAGCGGGCGGCTGACC	0.652000													5	56					0.014758	0.0148448	1	1	0
ESPNP	0	broad.mit.edu	37	1	17030590	17030590	+	RNA	SNP	G	G	A	rs590170	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:17030590G>A	ENST00000492551.1	-	0	745					NR_026567.1																						CGGCTGCTTCGCCTCCAGCTC	0.617000													3	26					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363248	108363248	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:108363248C>T	ENST00000361582.3	+	14	1609	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	DZIP3_ENST00000463306.1_Missense_Mutation_p.P460L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	460					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGGAGTTACCGCAATCCAAA	0.418000													31	129					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286065	130286065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:130286065A>T	ENST00000358511.6	+	4	1833	c.1802A>T	c.(1801-1803)gAc>gTc	p.D601V	COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	601	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCATTGAAAGACATAAGAAAC	0.418000													12	36					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3028112	3028112	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3028112C>T	ENST00000397114.3	-	19	2243	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000397111.5_Missense_Mutation_p.E633K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	633					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CACCCACCTTCGTGGTCTTCA	0.582000			T	ALK	ALCL								7	136					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56099037	56099037	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:56099037G>A	ENST00000426658.2	-	1	886	c.225C>T	c.(223-225)agC>agT	p.S75S	CTCFL_ENST00000433949.2_Silent_p.S75S|CTCFL_ENST00000432255.2_Silent_p.S75S|CTCFL_ENST00000429804.2_Silent_p.S75S|CTCFL_ENST00000243914.3_Silent_p.S75S|CTCFL_ENST00000423479.2_Silent_p.S75S|CTCFL_ENST00000422869.2_Silent_p.S75S|CTCFL_ENST00000422109.2_Silent_p.S75S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000371196.2_Silent_p.S75S			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	75					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGTACTTCTCGCTCTCCTCCG	0.597000													52	88					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914607	46914607	+	Silent	SNP	C	C	T	rs34235823		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:46914607C>T	ENST00000307522.3	-	1	2234	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	487						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCAAAACCACGAAAAGCGTC	0.627000													4	52					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41555240	41555240	+	Missense_Mutation	SNP	C	C	T	rs142575732	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:41555240C>T	ENST00000373060.1	+	7	1320	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	FOXP4_ENST00000373057.3_Missense_Mutation_p.R286W|FOXP4_ENST00000409208.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R287W|FOXP4_ENST00000307972.4_Missense_Mutation_p.R288W	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	288					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCTCACATCTCGGAGAGACAG	0.672000											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	51					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195143	3195143	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:3195143C>T	ENST00000323404.1	-	1	733	c.734G>A	c.(733-735)gGc>gAc	p.G245D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGGTGGGAGCCACATGTGGA	0.493000													23	53					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62301277	62301277	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:62301277G>A	ENST00000378024.4	-	5	886	c.612C>T	c.(610-612)acC>acT	p.T204T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	204					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCTGATCACGGTCTTCCCAG	0.542000													15	49					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56532267	56532267	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56532267G>A	ENST00000394048.5	+	22	2681	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TATATGGAGCGGGCAGAGGAC	0.587000													4	21					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7788025	7788025	+	Missense_Mutation	SNP	G	G	A	rs115544900	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:7788025G>A	ENST00000420658.1	-	12	1698	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	AFAP1_ENST00000360265.4_Missense_Mutation_p.R476C|AFAP1_ENST00000382543.3_Missense_Mutation_p.R476C|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.R476C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	476						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GATATAACACGCCTGTTCATG	0.468000													6	95					0	0	1	0	0
ISG15	9636	broad.mit.edu	37	1	949846	949846	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:949846C>T	ENST00000379389.4	+	2	637	c.486C>T	c.(484-486)ggC>ggT	p.G162G		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	162					cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGAGCCTGGCGGGCGGAGCT	0.637000													12	37					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	109998845	109998845	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:109998845C>T	ENST00000545712.2	-	7	977	c.584_splice	c.e7+1	p.R195_splice	MMAB_ENST00000266839.5_Splice_Site_p.R104_splice|MMAB_ENST00000540016.1_Splice_Site_p.R143_splice	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	195					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCCTCTTACCGTCTCTCGGC	0.657000													6	21					0	0	1	0	0
RAB9A	9367	broad.mit.edu	37	X	13727114	13727114	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:13727114C>T	ENST00000464506.1	+	3	528	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	83					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGACTGCTGCCTGCTTACTT	0.438000													15	80					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9804388	9804388	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:9804388G>A	ENST00000226193.5	-	2	851	c.411C>T	c.(409-411)gaC>gaT	p.D137D	RCVRN_ENST00000570909.2_Silent_p.D6D	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	137					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGAGCTTCACGTCCTCGGGAG	0.453000													12	24					0	0	1	0	0
SNX4	8723	broad.mit.edu	37	3	125170172	125170172	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:125170172T>C	ENST00000251775.4	-	13	1306	c.1282A>G	c.(1282-1284)Atg>Gtg	p.M428V	SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	428					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CTGATCTGCATGACTGCATAG	0.363000													19	138					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6294999	6294999	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6294999G>A	ENST00000343813.5	-	2	259	c.231C>T	c.(229-231)ttC>ttT	p.F77F	ICMT_ENST00000362035.3_Silent_p.F77F	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	77					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TGCCGCAGCCGAACACAAACC	0.507000													19	42					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169157	90169157	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:90169157G>C	ENST00000333209.3	-	2	2623	c.2105C>G	c.(2104-2106)gCa>gGa	p.A702G		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	702										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGGACTCTGCGTCCAAGGA	0.502000													6	35					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186280171	186280171	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186280171T>C	ENST00000445192.2	+	9	3550	c.3505T>C	c.(3505-3507)Tat>Cat	p.Y1169H	PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1169	Hemopexin-like 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTAGGTCATTATTTCTGGAT	0.368000													15	40					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6610853	6610853	+	Missense_Mutation	SNP	C	C	T	rs151180999		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6610853C>T	ENST00000285599.3	+	12	1870	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	612					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCGAACGGTGCGCGTGACCCA	0.572000													8	17					0	0	1	0	0
SPAM1	0	broad.mit.edu	37	7	123594472	123594472	+	Missense_Mutation	SNP	G	G	A	rs147745114		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:123594472G>A	ENST00000340011.5	+	3	1205	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	SPAM1_ENST00000439500.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R283Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R283Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R283Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	283					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATCGAGTTCGGGAAGCCATC	0.423000													27	46					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390533	208390533	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:208390533G>A	ENST00000367033.3	-	2	1492	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	245	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TAGCAAAGCCGTAGATGTAGA	0.537000													39	124					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75655014	75655014	+	Missense_Mutation	SNP	C	C	T	rs149884810		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:75655014C>T	ENST00000565683.1	-	7	877	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	MAN2C1_ENST00000267978.5_Missense_Mutation_p.R289Q|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000563622.1_Intron	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	289					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCAGGGTTCCGCTCCATGAG	0.622000													7	19					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15254959	15254959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:15254959C>T	ENST00000378116.4	-	8	2634	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	876						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCGTTTCTGCCAGGGGCTTT	0.512000													32	72					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756471	94756471	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:94756471G>A	ENST00000554723.1	-	2	998	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154C|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R154C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154C			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	154					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGGTTGCGGGAGAGGGTC	0.517000													15	54					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49714069	49714069	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49714069A>G	ENST00000252826.5	+	22	3557	c.3431A>G	c.(3430-3432)gAc>gGc	p.D1144G	TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G|TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1144	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGGAGAGCGACTCCGAGCGT	0.612000													3	14					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2565181	2565181	+	Missense_Mutation	SNP	C	C	T	rs143479850	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:2565181C>T	ENST00000222725.5	+	4	735	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	LFNG_ENST00000402506.1_Missense_Mutation_p.R168W|LFNG_ENST00000402045.1_Missense_Mutation_p.R110W|LFNG_ENST00000338732.3_Missense_Mutation_p.R110W|LFNG_ENST00000359574.3_Missense_Mutation_p.R239W	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	239					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGCCATGGAGCGGGTCAGCGA	0.716000													4	10					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391477	61391477	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:61391477G>A	ENST00000370501.3	+	4	1486	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	372						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.R372L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAACTTCCGCCACATCTTC	0.587000													6	113					0	0	1	0	0
PCDHA2	0	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672000													7	62					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732487	100732487	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100732487C>T	ENST00000306085.6	+	3	2191	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	632					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGGCCAGCCGGGGCCTGCG	0.652000													27	48					0	0	1	0	0
CNR1	0	broad.mit.edu	37	6	88853864	88853864	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:88853864G>A	ENST00000537554.1	-	2	4692	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	CNR1_ENST00000468898.1_Missense_Mutation_p.T344M|CNR1_ENST00000369501.2_Missense_Mutation_p.T377M|CNR1_ENST00000549890.1_Missense_Mutation_p.T377M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.T316M|CNR1_ENST00000369499.2_Missense_Mutation_p.T377M|CNR1_ENST00000535130.1_Missense_Mutation_p.T377M|CNR1_ENST00000428600.2_Missense_Mutation_p.T377M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	377					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.T377M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAACACCGTCTTAATGAG	0.522000													7	52					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34893859	34893859	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:34893859C>T	ENST00000592983.1	+	2	1489	c.909C>T	c.(907-909)cgC>cgT	p.R303R	PIGW_ENST00000328396.2_Silent_p.R303R|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	303					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCCAACCGCGAAGGAATAA	0.428000													19	60					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:183667646C>T	ENST00000334444.6	-	22	3362	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1041	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTGTCCAGACGCTTCAGCTC	0.562000													6	74					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45559536	45559536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:45559536G>T	ENST00000415258.1	+	17	2327	c.2186G>T	c.(2185-2187)tGg>tTg	p.W729L	LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	729					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGGAAGCTCTGGGAGTACAAG	0.517000													7	22					0.00198382	0.00201126	1	1	0
TPST1	8460	broad.mit.edu	37	7	65705780	65705780	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:65705780G>A	ENST00000304842.5	+	2	793	c.368G>A	c.(367-369)cGc>cAc	p.R123H	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	123					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGAAGATCCGCCTGGATGAG	0.507000													4	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058758	9058758	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:9058758G>C	ENST00000397910.4	-	3	28891	c.28688C>G	c.(28687-28689)aCa>aGa	p.T9563R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9565	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GCCAGGCATTGTTGTGGAAAC	0.493000													31	34					0	0	1	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526137	109526137	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:109526137G>A	ENST00000440112.2	-	2	463	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ALKBH2_ENST00000429722.2_Silent_p.H220H|ALKBH2_ENST00000343075.3_Silent_p.H220H	NM_001205179.1|NM_001205180.1	NP_001192108.1|NP_001192109.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	0	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GTAAGCTCCCGTGGGCCAGCG	0.577000								Direct reversal of damage					29	69					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48081003	48081003	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:48081003G>T	ENST00000348904.3	+	3	340	c.128G>T	c.(127-129)gGt>gTt	p.G43V	C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	43										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGATCCCAGGTCTCAGCAAT	0.537000													10	27					1.33987e-11	1.42901e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179440959	179440959	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:179440959C>T	ENST00000589042.1	-	326	70124	c.69900G>A	c.(69898-69900)caG>caA	p.Q23300Q	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21659	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGAACTGAGTGATTC	0.468000													5	32					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35770248	35770248	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:35770248G>A	ENST00000400445.3	+	31	5709	c.5175G>A	c.(5173-5175)acG>acA	p.T1725T	NBEA_ENST00000379939.2_Silent_p.T1722T|NBEA_ENST00000310336.4_Silent_p.T1725T|NBEA_ENST00000540320.1_Silent_p.T1725T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1725						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGTGAAACGTTGAAGCCTG	0.413000													17	45					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773158	113773158	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113773158C>T	ENST00000375581.3	+	9	1272	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	F7_ENST00000541084.1_Missense_Mutation_p.R344W|F7_ENST00000346342.3_Missense_Mutation_p.R391W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	413	Peptidase S1.		R -> G (in FA7D).|R -> Q (may be associated with decreased susceptibility to myocardial infarction; dbSNP:rs6046).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CACCCACTACCGGGGCACGTG	0.627000													3	17					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383898	12383898	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:12383898C>T	ENST00000356109.5	-	5	1434	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTATGAGGGCCATCTCCAGT	0.428000													31	68					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10448739	10448739	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:10448739G>A	ENST00000245503.5	-	5	813	c.429C>T	c.(427-429)taC>taT	p.Y143Y	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.Y143Y|MYH2_ENST00000532183.1_Silent_p.Y143Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	143	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						TTTTGCCTCGGTAGGCTGTCA	0.522000													43	88					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148924002	148924002	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:148924002G>T	ENST00000264613.6	-	6	1423	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	387	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.P387P(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTATACCAGAGGGAGCATAGT	0.403000													27	67					3.28513e-13	3.51831e-13	1	1	0
TGFB1I1	7041	broad.mit.edu	37	16	31485718	31485718	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:31485718C>T	ENST00000394863.3	+	6	591	c.461C>T	c.(460-462)gCc>gTc	p.A154V	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	154	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCCACCTCAGCCACTCTGGAG	0.577000													4	58					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7645694	7645694	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:7645694T>C	ENST00000340080.4	+	12	2944	c.2523T>C	c.(2521-2523)agT>agC	p.S841S	MIOS_ENST00000405785.1_Silent_p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	841										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATATGCTTAGTTGGTTCAGGT	0.388000													47	89					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70679687	70679687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70679687G>A	ENST00000373585.3	+	8	1296	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	397	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TATTTTCTGTGAGACCAAGAA	0.413000													16	71					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322515	17322515	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:17322515G>A	ENST00000452699.1	-	15	1672	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R500C|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R495C	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	500					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGTTGATGCGCAGTGGGTGG	0.662000													4	49					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035644	37035644	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:37035644G>A	ENST00000379242.3	+	15	1721	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	VIT_ENST00000497382.1_Silent_p.S127S|VIT_ENST00000404084.1_Silent_p.S410S|VIT_ENST00000389975.3_Silent_p.S458S|VIT_ENST00000379241.3_Silent_p.S436S|VIT_ENST00000401530.1_Silent_p.S437S	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	458	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCTTCTACTCGCTCCACGTGC	0.597000													11	15					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3122887	3122887	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3122887G>A	ENST00000263650.7	-	13	1627	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OSBPL5_ENST00000348039.5_Missense_Mutation_p.R422W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R121W|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R422W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R401W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	490					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCGTCCTTCCGGTTGCTGACG	0.632000													10	22					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30804860	30804860	+	Missense_Mutation	SNP	C	C	T	rs112779048	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:30804860C>T	ENST00000383096.3	-	17	1879	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q					coiled-coil domain containing 178																		AAGCTCTTTCCGCTCAAGTGC	0.358000													18	21					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66600560	66600560	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66600560C>T	ENST00000379500.2	+	1	211	c.144C>T	c.(142-144)acC>acT	p.T48T	CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	0	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CAGCGAAGACCGCACCCCGGA	0.632000													5	55					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152053535	152053535	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:152053535C>T	ENST00000409598.4	-	17	3017	c.1849_splice	c.e17-1	p.S617_splice	SH3D19_ENST00000304527.4_Splice_Site_p.S640_splice|SH3D19_ENST00000455740.1_Splice_Site_p.S617_splice|SH3D19_ENST00000424281.1_Splice_Site_p.S581_splice|SH3D19_ENST00000409252.2_Splice_Site_p.S640_splice|SH3D19_ENST00000514152.1_Splice_Site_p.S617_splice|SH3D19_ENST00000427414.2_Splice_Site_p.S581_splice			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	640	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TACCTTTGTGCCTACATTAAA	0.408000													3	25					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136605708	136605708	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:136605708G>T	ENST00000264156.2	-	14	2028	c.1968C>A	c.(1966-1968)atC>atA	p.I656I	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	656					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CCACACGGATGATTGATTTAT	0.393000													5	25					0.000602214	0.000614187	1	1	0
SEMA3B	7869	broad.mit.edu	37	3	50312859	50312859	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:50312859G>A	ENST00000418948.1	+	0	1852							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACGGGGTCGCGTGCACGCG	0.716000													5	12					0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686671	151686671	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:151686671G>A	ENST00000325144.4	-	3	1670	c.1530C>T	c.(1528-1530)acC>acT	p.T510T		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTAGTAAGACGGTTTCTTGTT	0.448000													25	60					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78338708	78338708	+	Missense_Mutation	SNP	C	C	T	rs149790967		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78338708C>T	ENST00000370791.3	+	15	1615	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	528						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GGATTTTTTGCCCATTTTTAT	0.388000													23	90					0	0	1	0	0
CYB561A3	220002	broad.mit.edu	37	11	61120574	61120574	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:61120574G>A	ENST00000546151.1	-	5	530	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	CYB561A3_ENST00000426130.2_Missense_Mutation_p.A161V|CYB561A3_ENST00000294072.4_Missense_Mutation_p.A144V|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A144V|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A144V|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000539890.1_Intron					cytochrome b561 family, member A3																		CCACATGGACGCCCAGGGCAG	0.557000													11	12					0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780917	128780917	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:128780917G>A	ENST00000307395.4	+	3	557	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	112	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGCAGGTCCGCTGTGCCAGC	0.706000													3	13					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930357	116930357	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:116930357C>T	ENST00000356083.3	+	3	913	c.522C>T	c.(520-522)tgC>tgT	p.C174C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	174	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGACTGCCTGCGGGCAGCGCC	0.682000													10	27					0	0	1	0	0
COTL1	23406	broad.mit.edu	37	16	84600556	84600556	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84600556G>A	ENST00000262428.4	-	4	486	c.324C>T	c.(322-324)ttC>ttT	p.F108F	COTL1_ENST00000564057.1_Silent_p.F39F|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	108	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding	p.F108F(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						ACTCCTTAGCGAAATTCTGCA	0.512000													12	36					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445333	49445333	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:49445333C>T	ENST00000301067.7	-	10	2132	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCGAGTCCTCCGGTGGTGGGG	0.677000													22	50					0	0	1	0	0
PCDHGA2	0	broad.mit.edu	37	5	140719302	140719302	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140719302C>T	ENST00000394576.2	+	1	764	c.764C>T	c.(763-765)aCg>aTg	p.T255M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGAGAATACGCTCGTGGGC	0.547000													13	91					0	0	1	0	0
INHA	3623	broad.mit.edu	37	2	220439863	220439863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:220439863G>A	ENST00000243786.2	+	2	896	c.716G>A	c.(715-717)tGg>tAg	p.W239*		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	239					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGATGTCCTGGCCTTGGTCT	0.657000													18	45					0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1961548	1961548	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1961548G>A	ENST00000399849.2	+	2	1724	c.1564G>A	c.(1564-1566)Ggg>Agg	p.G522R	HIC1_ENST00000322941.3_Missense_Mutation_p.G541R	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	541					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CACCATCTGCGGGAAGAAGTT	0.682000													6	13					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57876617	57876617	+	Silent	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:57876617A>C	ENST00000381227.1	+	12	1908	c.1495A>C	c.(1495-1497)Aga>Cga	p.R499R	POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	499					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGCAAAACCAAGACAGTTGCA	0.428000													32	58					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505706	11505706	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:11505706C>T	ENST00000379237.1	-	15	1615	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	USP6NL_ENST00000277575.5_Silent_p.A424A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	407						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGTGGGGCGCCCCGCTCT	0.692000													7	25					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551745	39551745	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:39551745C>T	ENST00000251645.2	-	4	771	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	240	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CACTTCCCTGCGGTTGGTTTC	0.632000													23	57					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25672097	25672097	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:25672097A>G	ENST00000281589.3	+	1	1798	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	587	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATAATTCAGAACTTCTTTATA	0.448000													6	109					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169340497	169340497	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:169340497G>A	ENST00000511577.1	-	19	2813	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	DDX60L_ENST00000505890.1_Missense_Mutation_p.R856C|DDX60L_ENST00000260184.7_Missense_Mutation_p.R856C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	856	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATTTTTGGCGATGAGGAGCA	0.363000													5	2					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51748529	51748529	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:51748529C>T	ENST00000374056.4	+	1	452	c.54C>T	c.(52-54)gaC>gaT	p.D18D	AGAP6_ENST00000412531.3_Silent_p.D18D			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	18					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TCGAGTTTGACCAGCAGCAGG	0.607000													15	17					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343968	248343968	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248343968C>T	ENST00000359682.2	+	1	681	c.681C>T	c.(679-681)caC>caT	p.H227H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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)			CTGTCATTCACATGGGATCTG	0.433000													9	167					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49132872	49132872	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49132872G>A	ENST00000443164.1	+	5	2698	c.1993G>A	c.(1993-1995)Gcc>Acc	p.A665T	SPHK2_ENST00000599748.1_Missense_Mutation_p.A567T|SPHK2_ENST00000599029.1_Missense_Mutation_p.A567T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A544T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A565T|SPHK2_ENST00000245222.4_Missense_Mutation_p.A603T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A603T			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	603					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGGGCTACGCCGCGGCCCG	0.682000													3	7					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132212946	132212946	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:132212946C>T	ENST00000261674.4	+	7	1195	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	352					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GCCTGTGCAGCCCTCCCAGGT	0.587000													23	25					0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18005394	18005394	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:18005394C>T	ENST00000278780.6	-	4	956	c.714G>A	c.(712-714)ccG>ccA	p.P238P	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	238					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACGAGCTGCCCGGATGGGCAC	0.582000													11	24					0	0	1	0	0
LIMD2	80774	broad.mit.edu	37	17	61776417	61776417	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:61776417C>T	ENST00000259006.3	-	3	213	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578061.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578402.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578993.1_Missense_Mutation_p.G19S	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding			kidney(1)|lung(2)	3						CTGCTGCCGCCGCCTTTGGCG	0.736000													3	16					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151673127	151673127	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:151673127G>A	ENST00000402676.2	+	4	3841	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	AKAP12_ENST00000359755.5_Missense_Mutation_p.A1096T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1103T|AKAP12_ENST00000253332.1_Missense_Mutation_p.A1201T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1201					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAATGAGGTCGCATCTGGTAC	0.532000													5	75					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24642164	24642164	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:24642164C>T	ENST00000311457.3	+	4	781	c.182C>T	c.(181-183)cCg>cTg	p.P61L	REC8_ENST00000559919.1_Missense_Mutation_p.P61L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	61					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGGCCTGCCGCGGCCCCGC	0.602000													28	48					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33625513	33625513	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33625513G>A	ENST00000291416.5	-	3	770	c.537C>T	c.(535-537)ggC>ggT	p.G179G	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Silent_p.G58G	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	179						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGAAGGCCTCGCCGATAGTGG	0.657000													5	28					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133248	57133248	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:57133248G>A	ENST00000328070.6	+	3	827	c.593G>A	c.(592-594)cGc>cAc	p.R198H		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TTCAGCCAGCGCATGAACCTC	0.637000													19	41					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27832572	27832572	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27832572A>G	ENST00000318304.8	+	19	2067	c.1784_splice	c.e19+1	p.K595_splice	PPFIBP1_ENST00000228425.6_Splice_Site_p.K589_splice|PPFIBP1_ENST00000542629.1_Splice_Site_p.K564_splice|PPFIBP1_ENST00000537927.1_Splice_Site_p.K442_splice	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	595					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCTTTGGAAAGTAAGTAAAG	0.438000													9	68					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98633951	98633951	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:98633951T>C	ENST00000295268.3	-	10	1308	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		AAAACAGGATTGTATGCTGCA	0.348000													17	13					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937675	67937675	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:67937675C>T	ENST00000252336.6	+	5	1051	c.679C>T	c.(679-681)Cca>Tca	p.P227S	STARD8_ENST00000374597.3_Missense_Mutation_p.P227S|STARD8_ENST00000374599.3_Missense_Mutation_p.P307S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	227					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGACCACAAACCAGGCACATT	0.647000													3	11					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATGACCGTTATGCTATT	0.368000										HNSCC(38;0.096)			6	82					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501639	136501639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136501639A>G	ENST00000393056.2	+	1	158	c.146A>G	c.(145-147)tAt>tGt	p.Y49C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	49					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCCCTCCCCTATCACATCCCC	0.642000													4	29					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41744449	41744449	+	Missense_Mutation	SNP	C	C	T	rs143593613		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:41744449C>T	ENST00000301178.4	+	8	1259	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	AXL_ENST00000359092.3_Missense_Mutation_p.R357W|AXL_ENST00000593513.1_Missense_Mutation_p.R89W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	357	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGAGCCCCGGGCGCCCCT	0.647000													14	14					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480515	206480515	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:206480515A>G	ENST00000406610.2	+	23	3803	c.3596A>G	c.(3595-3597)aAc>aGc	p.N1199S	PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1199					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGCAGAAGAACCCCATGACT	0.582000													10	41					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14517970	14517970	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14517970T>C	ENST00000242786.5	+	18	2385	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	CD97_ENST00000357355.3_Missense_Mutation_p.Y720H|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	769					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTGCTGACCTATGTGTTTAC	0.617000													9	86					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46073658	46073658	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46073658G>A	ENST00000350030.3	+	6	1162	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	359	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTAGAGGCTGGATCAGA	0.527000													28	81					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106858224	106858224	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:106858224C>T	ENST00000379987.2	+	4	540	c.324C>T	c.(322-324)taC>taT	p.Y108Y	NPNT_ENST00000453617.2_Silent_p.Y125Y|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000506666.1_Silent_p.Y138Y|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000427316.2_Silent_p.Y138Y|NPNT_ENST00000305572.8_Silent_p.Y108Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	108	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAACACTTACGGCAGCTACA	0.448000													18	16					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104068648	104068648	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:104068648C>T	ENST00000265148.3	-	29	4088	c.3999G>A	c.(3997-3999)ttG>ttA	p.L1333L	CENPE_ENST00000380026.3_Silent_p.L1308L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1333					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTTTCATTCAACCTGAGCC	0.373000													25	20					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30776081	30776081	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776081C>T	ENST00000382363.3	-	7	1052	c.978G>A	c.(976-978)gcG>gcA	p.A326A		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647000													5	72					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139748345	139748345	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:139748345C>T	ENST00000445819.1	+	5	621	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	MAMDC4_ENST00000317446.2_Missense_Mutation_p.R191W|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	191	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGGCCGCATCCGGGGTGACTT	0.657000													3	17					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3076395	3076395	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:3076395C>A	ENST00000326266.8	+	6	688	c.392C>A	c.(391-393)gCt>gAt	p.A131D	THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	131					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAGATCAACGCTTTGCTGCTG	0.542000													20	23					1.15919e-05	1.20134e-05	1	1	0
ARID3B	10620	broad.mit.edu	37	15	74883589	74883589	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:74883589C>T	ENST00000346246.5	+	6	1210	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	327	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGGGAGGGCCGGCGGCCCAG	0.612000													28	96					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68506190	68506190	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:68506190G>A	ENST00000255087.5	-	6	1078	c.895C>T	c.(895-897)Cca>Tca	p.P299S	MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000443940.2_3'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	299					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ATTTTTGGTGGTCCTGGAAGA	0.413000													4	37					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131916	72131916	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:72131916G>A	ENST00000265381.4	-	2	433	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	71					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CATTCCCCGCGCTCCTCTTCC	0.731000													4	10					0	0	1	0	0
MSI1	4440	broad.mit.edu	37	12	120791157	120791157	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:120791157G>T	ENST00000257552.2	-	10	766	c.678C>A	c.(676-678)acC>acA	p.T226T	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	226					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGGCGTAGGTTGTGGCTT	0.597000													17	51					4.75885e-15	5.12876e-15	1	1	0
PYCR2	29920	broad.mit.edu	37	1	226109030	226109030	+	Silent	SNP	G	G	A	rs150765933		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226109030G>A	ENST00000343818.6	-	6	823	c.675C>T	c.(673-675)tgC>tgT	p.C225C	RP4-559A3.7_ENST00000432920.2_Silent_p.C151C|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	225					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	CCTTAAGCTGGCATGGATGCT	0.572000													12	12					0	0	1	0	0
TLDC1	57707	broad.mit.edu	37	16	84514162	84514162	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84514162C>T	ENST00000343629.6	-	7	1412	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	TLDC1_ENST00000535580.1_Silent_p.A383A	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		GGTCTCCAACCGCCCACACCT	0.577000													15	26					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84438757	84438757	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84438757G>A	ENST00000416219.2	+	3	323	c.234G>A	c.(232-234)tcG>tcA	p.S78S	ATP2C2_ENST00000262429.4_Silent_p.S78S			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	78					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGGGCTGTCGGAGTTCTCGG	0.567000													13	34					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117849133	117849133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117849133G>A	ENST00000350763.4	-	3	1288	c.877C>T	c.(877-879)Cga>Tga	p.R293*	TNC_ENST00000537320.1_Nonsense_Mutation_p.R293*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R293*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R293*|TNC_ENST00000535648.1_Nonsense_Mutation_p.R293*|TNC_ENST00000345230.3_Nonsense_Mutation_p.R293*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R293*|TNC_ENST00000423613.2_Nonsense_Mutation_p.R293*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R293*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	293	EGF-like 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCACGCATCGTCCACGGTTG	0.562000													15	74					0	0	1	0	0
ATP5H	10476	broad.mit.edu	37	17	73035039	73035039	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:73035039A>G	ENST00000301587.4	-	6	521	c.474T>C	c.(472-474)atT>atC	p.I158I	KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Silent_p.I134I	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	158					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					ATAAATTCTCAATTGGTTGGT	0.368000													17	42					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91712544	91712544	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:91712544G>T	ENST00000359028.2	+	34	8482	c.8257G>T	c.(8257-8259)Gca>Tca	p.A2753S	AKAP9_ENST00000356239.3_Missense_Mutation_p.A2741S|AKAP9_ENST00000358100.2_Missense_Mutation_p.A2753S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2753	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGATCACCTCGCAGAGGCAAA	0.368000			T	BRAF	papillary thyroid								11	43					3.86212e-05	3.97048e-05	1	1	0
PDE6B	5158	broad.mit.edu	37	4	648639	648639	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:648639C>T	ENST00000255622.6	+	6	997	c.954C>T	c.(952-954)gaC>gaT	p.D318D	RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Silent_p.D318D|PDE6B_ENST00000429163.2_Silent_p.D39D|RP11-1191J2.2_ENST00000468356.1_RNA	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	318	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AAGTGATCGACTACGTCCTCC	0.582000													4	61					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110171762	110171762	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110171762A>G	ENST00000256578.3	+	13	2125	c.1765A>G	c.(1765-1767)Aac>Gac	p.N589D	AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	589					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCAGCTGGCCAACTTCCAGGA	0.577000													13	21					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146058591	146058591	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:146058591C>T	ENST00000454497.2	-	21	3278	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.Q1112Q	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1111							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATCAAGTGTGCTGTCCCCTAT	0.433000													14	138					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2226330	2226330	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2226330C>T	ENST00000326181.6	+	20	2075	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	648					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGTGTCACCGCGCTGGCTGTG	0.642000													6	12					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33697253	33697253	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33697253G>A	ENST00000253193.7	+	5	1779	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	526					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TACTCACTGCGCACGCAGGAA	0.657000													8	17					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17688792	17688792	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:17688792C>T	ENST00000252599.4	+	9	1280	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		CAGGTGGAGGCGCTGGGGATC	0.642000													23	36					0	0	1	0	0
PIPSL	0	broad.mit.edu	37	10	95721253	95721253	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:95721253G>A	ENST00000480546.1	-	0	44					NR_002319.2																						GGAGGCCGACGCCATCTTGGC	0.572000													6	90					0	0	1	0	0
MYL12B	103910	broad.mit.edu	37	18	3272921	3272921	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:3272921A>G	ENST00000581193.1	+	2	408	c.25A>G	c.(25-27)Aag>Gag	p.K9E	MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E|MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	9					axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GGCAAAGACCAAGACCACCAA	0.388000													29	73					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251426	40251426	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:40251426C>T	ENST00000302541.6	+	11	2089	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	MYRIP_ENST00000539167.1_Missense_Mutation_p.R396W|MYRIP_ENST00000425621.1_Missense_Mutation_p.R583W|MYRIP_ENST00000396217.3_Missense_Mutation_p.R494W|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.R583W	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	583	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.R583W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGGAGAAACGGAGAAACAG	0.478000													5	80					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744219	70744219	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:70744219C>T	ENST00000260126.3	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632000													15	24					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83221233	83221233	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:83221233C>A	ENST00000563800.1	-	8	3003	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K404N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	404	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AACTCACCTCCTTGCAGCGCA	0.522000													7	27					1.26484e-09	1.33787e-09	1	1	0
ANO1	55107	broad.mit.edu	37	11	70031720	70031720	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70031720G>A	ENST00000355303.5	+	25	2918	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	ANO1_ENST00000398543.2_Silent_p.P725P|ANO1_ENST00000530676.1_Silent_p.P725P|ANO1_ENST00000531349.1_Silent_p.P580P|ANO1_ENST00000538023.1_Silent_p.P871P|ANO1_ENST00000525494.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	871					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GAGAGCCGCCGTGGTCGGAAA	0.607000													11	34					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755694	242755694	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:242755694C>T	ENST00000391969.2	+	3	724	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	NEU4_ENST00000407683.1_Missense_Mutation_p.R5C|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000404257.1_Missense_Mutation_p.R17C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	5						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGGGTCCCTCGTACCCCTTC	0.701000													4	33					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62492847	62492847	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:62492847A>G	ENST00000539111.2	-	1	307	c.240T>C	c.(238-240)agT>agC	p.S80S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	80					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTTGCTTCCACTTAGGAAAT	0.612000													22	62					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117516856	117516856	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:117516856C>A	ENST00000393203.2	+	7	2225	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	693	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTTAATGCTTCTGTGCATTCA	0.423000													32	61					5.91797e-21	6.44568e-21	1	1	0
FOXG1	2290	broad.mit.edu	37	14	29237390	29237390	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:29237390G>A	ENST00000382535.3	+	2	1274	c.905G>A	c.(904-906)cGc>cAc	p.R302H	FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H			P55316	FOXG1_HUMAN	forkhead box G1	302				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTCATGGACCGCGCCGGCTCC	0.701000													23	55					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149002640	149002640	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:149002640T>A	ENST00000355292.3	-	9	3184	c.2822A>T	c.(2821-2823)gAc>gTc	p.D941V	NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V|NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000342437.4_3'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000358102.3_Missense_Mutation_p.D937V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	937	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTCCAGCAGGTCGCTCACCAG	0.572000													17	29					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42778750	42778750	+	Missense_Mutation	SNP	C	C	T	rs144485658		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:42778750C>T	ENST00000432191.2	+	5	427	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Missense_Mutation_p.R174C|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174C|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126C	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	174					keratinization	cytoplasm|nucleus		p.R174C(2)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGAGTCCGTGCGTCCTGGTGC	0.498000													12	30					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140481	78140481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:78140481T>C	ENST00000216489.3	-	6	859	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	282	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAGAGGCGGCTGAAACCCGAC	0.577000													11	22					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448000										Prostate(2;0.17)			35	68					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50400278	50400278	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:50400278C>T	ENST00000434422.1	-	4	528	c.227G>A	c.(226-228)cGt>cAt	p.R76H	RACGAP1_ENST00000427314.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R76H			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	76					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CACCTGATTACGTGCATGCTT	0.478000													37	61					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788498	80788498	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80788498C>T	ENST00000269394.3	-	3	2525	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P	ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	564						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCAGGCCTCGGAGCCTGGG	0.627000													14	75					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19037719	19037719	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:19037719C>T	ENST00000379878.3	-	14	901	c.660G>A	c.(658-660)caG>caA	p.Q220Q	GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000354791.3_Silent_p.Q220Q|GPR64_ENST00000340581.3_Silent_p.Q206Q	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	236					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTACATACCACTGAAGCTTTT	0.398000													8	15					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56682861	56682861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:56682861C>T	ENST00000431842.2	-	6	1238	c.314G>A	c.(313-315)aGc>aAc	p.S105N	FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N|FAM208A_ENST00000493960.2_Missense_Mutation_p.S501N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	501										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AGTAACTATGCTTCTAGGTTC	0.308000													4	32					0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123699209	123699209	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:123699209G>A	ENST00000479867.1	-	2	368	c.120C>T	c.(118-120)taC>taT	p.Y40Y	ROPN1_ENST00000184183.4_Intron|ROPN1_ENST00000495093.1_Silent_p.Y40Y|ROPN1_ENST00000484329.1_Silent_p.Y40Y|ROPN1_ENST00000459660.1_Silent_p.Y40Y|ROPN1_ENST00000405845.3_Intron			Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	40	RIIa.				signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		AAAGGAGCACGTACTCGGCTG	0.607000													22	38					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42193022	42193022	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:42193022C>T	ENST00000220325.4	-	6	1530	c.1447G>A	c.(1447-1449)Gtc>Atc	p.V483I		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	483	EF-hand.|EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TTGCCCAGGACGCTGTTGGGC	0.567000													4	41					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93022190	93022190	+	Missense_Mutation	SNP	C	C	T	rs138055945		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:93022190C>T	ENST00000216487.7	+	2	298	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	47					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTTCCTCACCGCCGGGGCAT	0.587000													15	25					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090766	147090766	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:147090766G>A	ENST00000234739.3	+	8	1545	c.805G>A	c.(805-807)Gca>Aca	p.A269T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	269	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAAGCCTGCCGCACCCCCACG	0.607000			T	"""IGH@, IGL@"""	B-ALL								29	63					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433999	73433999	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:73433999C>T	ENST00000263666.4	-	10	1832	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R295Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R290Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R230Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R230Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	573							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGTCGGTCCGCCCCACACC	0.597000													12	19					0	0	1	0	0
PHF16	0	broad.mit.edu	37	X	46887491	46887491	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:46887491G>A	ENST00000218343.4	+	6	971	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		225					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TAAGTGTAACGTCTGTGTGCA	0.488000													21	4					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112579785	112579785	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:112579785G>A	ENST00000297145.4	-	1	186	c.21C>T	c.(19-21)ggC>ggT	p.G7G		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	7										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGTATTTCGGCCGCCGGCCC	0.726000													6	9					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1271165	1271165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1271165C>T	ENST00000589710.1	+	3	277	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.Q44*			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	44	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CAGGGAGACCCAGAGATCTCG	0.567000													19	43					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090466	32090466	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:32090466G>A	ENST00000438447.1	+	20	7300	c.6912G>A	c.(6910-6912)acG>acA	p.T2304T	PDZD2_ENST00000282493.3_Silent_p.T2304T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2304					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGACGAGCTGCCTAG	0.483000													6	94					0	0	1	0	0
PTPN3	0	broad.mit.edu	37	9	112145796	112145796	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:112145796G>A	ENST00000412145.1	-	18	4449	c.1896C>T	c.(1894-1896)gaC>gaT	p.D632D	PTPN3_ENST00000262539.3_Silent_p.D609D|PTPN3_ENST00000394827.3_Silent_p.D231D|PTPN3_ENST00000374541.2_Silent_p.D763D|PTPN3_ENST00000446349.1_Silent_p.D587D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	763					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGTTCATGACGTCGGGGGGAT	0.562000													12	46					0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036655	13036655	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:13036655G>A	ENST00000376187.1	+	2	727	c.727G>A	c.(727-729)Gat>Aat	p.D243N	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	243										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CTTCATCTCCGATGGCTGTCG	0.478000													5	88					0	0	1	0	0
AC129929.5	0	broad.mit.edu	37	11	2356903	2356903	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:2356903C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							GATCTTCCTGCGCACGTGTGA	0.562000													28	98					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90763060	90763060	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:90763060G>A	ENST00000411539.2	+	4	680	c.420G>A	c.(418-420)ccG>ccA	p.P140P	SEMA4B_ENST00000379122.3_Silent_p.P135P|SEMA4B_ENST00000332496.6_Silent_p.P140P	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCCTGCCGCTCAGCGGCA	0.622000											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	17					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70451231	70451231	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70451231G>A	ENST00000373644.4	+	12	6280	c.6071G>A	c.(6070-6072)cGg>cAg	p.R2024Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2024					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.R2024Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGTGTGCCCGGCGAGAGCTG	0.522000													32	56					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952026	178952026	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:178952026C>A	ENST00000263967.3	+	21	3238	c.3081C>A	c.(3079-3081)gcC>gcA	p.A1027A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1027	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1027V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGACCCTAGCCTTAGATAAAA	0.388000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	75					0.000151284	0.000154908	1	1	0
GAL3ST1	9514	broad.mit.edu	37	22	30951602	30951602	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30951602A>G	ENST00000402321.1	-	3	927	c.610T>C	c.(610-612)Tac>Cac	p.Y204H	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	204					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTGGGGTCGTAGTAGCGATCC	0.627000													6	67					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156288708	156288708	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156288708C>T	ENST00000295688.3	-	8	990	c.710G>A	c.(709-711)cGc>cAc	p.R237H	CCT3_ENST00000368259.2_Missense_Mutation_p.R199H|CCT3_ENST00000472765.2_Missense_Mutation_p.R192H|CCT3_ENST00000368261.3_Missense_Mutation_p.R192H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	237					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGCACAATGCGAGGGTTCTT	0.463000													16	34					0	0	1	0	0
NAT6	24142	broad.mit.edu	37	3	50334626	50334626	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:50334626C>T	ENST00000443842.1	-	2	1076	c.269G>A	c.(268-270)cGc>cAc	p.R90H	NAT6_ENST00000443094.2_Missense_Mutation_p.R90H|NAT6_ENST00000354862.4_Missense_Mutation_p.R112H|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R90H|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGTGCAGGCGGGAGGTGCG	0.647000													4	44					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64606680	64606680	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:64606680G>A	ENST00000342711.5	-	7	700	c.701C>T	c.(700-702)aCg>aTg	p.T234M		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	234	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ATAGTCCGGCGTCCCTACTGC	0.617000													6	41					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239049574	239049574	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:239049574C>T	ENST00000409223.1	+	2	286	c.179C>T	c.(178-180)gCc>gTc	p.A60V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	60	BTB.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TACTTCCATGCCATGTTTGCG	0.677000													22	47					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174667	150174667	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:150174667T>G	ENST00000307271.3	+	5	2371	c.1797T>G	c.(1795-1797)tgT>tgG	p.C599W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	599						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGCGAGTTTGTGCTTTTAACA	0.473000													27	55					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310191	56310191	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56310191C>T	ENST00000528616.2	-	1	566	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TAATGAGCGGCGGGTCAGCAC	0.498000													6	32					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727613	154727613	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:154727613C>T	ENST00000607772.1	-	13	2087	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T|CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATCGTGGCGCTGCTGTGG	0.572000													4	60					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504410	47504410	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:47504410T>C	ENST00000426342.1	-	8	1475	c.729A>G	c.(727-729)aaA>aaG	p.K243K	MDGA2_ENST00000357362.3_Silent_p.K243K|MDGA2_ENST00000399232.2_Silent_p.K541K|MDGA2_ENST00000439988.2_Silent_p.K472K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	472	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGATGATTGGTTTAGGTTTGC	0.418000													6	121					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	163	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTTGAACACGGGCGCGTAC	0.507000													10	40					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104474531	104474531	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:104474531G>C	ENST00000229330.4	+	5	794	c.690G>C	c.(688-690)atG>atC	p.M230I		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	230					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAGAAACTATGTCATGGTCAA	0.323000													15	17					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													4	40					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49012151	49012151	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49012151G>T	ENST00000600059.1	-	5	741	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGCTCCAGGGGCCCCGCGCTG	0.597000													19	32					1.37522e-17	1.49468e-17	1	1	0
C15orf56	644809	broad.mit.edu	37	15	40544701	40544701	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:40544701C>T	ENST00000319503.3	-	2	292	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000441369.1_Intron|C15orf56_ENST00000559727.1_3'UTR	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	91										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		ACTTCTCCCGCGCTCTGGGTT	0.662000													5	14					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29848728	29848728	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:29848728G>A	ENST00000399218.4	-	6	1789	c.1733_splice	c.e6-1	p.I578_splice	GAREM_ENST00000269209.6_Silent_p.S579S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		TTTTAGTGACGCTGCTTAAAA	0.403000													13	53					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30950099	30950099	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:30950099A>G	ENST00000383096.3	-	6	445	c.263T>C	c.(262-264)gTa>gCa	p.V88A	CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A					coiled-coil domain containing 178																		AATATTTACTACGGCACAGCT	0.378000													14	38					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429592	135429592	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:135429592G>A	ENST00000394143.1	+	6	4018	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1243					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACACACACCAGTGTCCATCCA	0.458000													7	72					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48437450	48437450	+	Missense_Mutation	SNP	G	G	A	rs150470450		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:48437450G>A	ENST00000017003.2	+	11	2445	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	799					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GCTGCCCAGCGGCACACACAG	0.652000													5	11					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80016030	80016030	+	Silent	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80016030T>G	ENST00000354321.7	-	13	1868	c.1383A>C	c.(1381-1383)ccA>ccC	p.P461P	DUS1L_ENST00000306796.5_Silent_p.P461P			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	461					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGAAGCCACCTGGTGTTCCAG	0.582000													12	39					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223971888	223971888	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:223971888C>T	ENST00000391878.2	-	18	3673	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	TP53BP2_ENST00000343537.7_Missense_Mutation_p.E1098K|TP53BP2_ENST00000391879.2_Missense_Mutation_p.E331K|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	1092	Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ATTTCATCTTCGTCTTCCCTG	0.448000													32	76					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47706243	47706243	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:47706243G>A	ENST00000262982.2	+	19	2264	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CSE1L_ENST00000396192.3_Missense_Mutation_p.R658H|CSE1L_ENST00000542325.1_Missense_Mutation_p.R497H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	714					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCTTAGAACGCGGTTCAAAC	0.418000													16	43					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47884519	47884519	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:47884519C>T	ENST00000328771.4	+	16	3585	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1079						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCGCCCCTCACGCCCCTGGAG	0.672000													7	42					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149133690	149133690	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:149133690G>A	ENST00000247930.4	-	5	1638	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	439	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTGCACCAGCATCTGCTTC	0.657000													24	51					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17400870	17400870	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:17400870C>T	ENST00000470360.1	+	4	259	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000522656.1_Silent_p.L8L|SLC7A2_ENST00000398090.3_Silent_p.L48L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	8					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGCCGCGCTGACCTTTGC	0.522000													14	13					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43248313	43248313	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:43248313G>A	ENST00000255226.6	+	15	2723		c.e15-1		SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2							apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCCAGGTCGGCCATC	0.562000													13	21					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70934964	70934964	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70934964C>T	ENST00000393567.2	-	53	9141	c.8991G>A	c.(8989-8991)ctG>ctA	p.L2997L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2997										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTACAGGTGCAGGCCGTACT	0.547000													18	88					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285052	28285052	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:28285052C>T	ENST00000373894.3	+	8	1262	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L309L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	357					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCTGGGAGCTCGAGTACCAGC	0.637000													9	34					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72860461	72860461	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:72860461G>A	ENST00000455107.2	-	10	1095	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	FDXR_ENST00000293195.5_Missense_Mutation_p.R271C|FDXR_ENST00000581530.1_Missense_Mutation_p.R277C|FDXR_ENST00000583917.1_Missense_Mutation_p.R243C|FDXR_ENST00000413947.2_Missense_Mutation_p.R302C|FDXR_ENST00000582944.1_Missense_Mutation_p.R263C|FDXR_ENST00000420580.2_Missense_Mutation_p.R231C|FDXR_ENST00000544854.1_Missense_Mutation_p.R219C|FDXR_ENST00000442102.2_Missense_Mutation_p.R314C			P22570	ADRO_HUMAN	ferredoxin reductase	271					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCCTCGGGCGGGGGACCTCT	0.687000											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	22					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:31705656C>T	ENST00000396556.2	-	11	2287	c.2165G>A	c.(2164-2166)cGg>cAg	p.R722Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	722					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602000													6	66					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74467835	74467835	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74467835G>A	ENST00000591885.1	-	19	2914	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	RHBDF2_ENST00000313080.4_Silent_p.A817A|RHBDF2_ENST00000389760.4_Silent_p.A788A			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	817					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCACGAGGGCGGCGAAGAGGC	0.612000													3	8					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57499054	57499054	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:57499054C>T	ENST00000300134.3	-	9	1206	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	STAT6_ENST00000543873.2_Missense_Mutation_p.R294Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R294Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R294Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R184Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R184Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	294					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAACAGGAATCGAACTCCAGC	0.622000													10	33					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4705340	4705340	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:4705340G>A	ENST00000540757.2	+	5	468	c.308G>A	c.(307-309)cGc>cAc	p.R103H	DYRK4_ENST00000543431.1_Missense_Mutation_p.R103H|DYRK4_ENST00000010132.5_Missense_Mutation_p.R103H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	103						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATTGCCTACCGCTATGAAGTT	0.552000													13	99					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65620113	65620113	+	Missense_Mutation	SNP	C	C	T	rs140929894		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65620113C>T	ENST00000308342.6	+	11	1350	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	309					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCTGCTGTACCGGCGGCTGCG	0.697000													8	16					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622000													22	28					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117129977	117129977	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117129977C>A	ENST00000307564.4	-	6	1735	c.1573_splice	c.e6-1	p.G525_splice	AKNA_ENST00000312033.3_Splice_Site_p.G525_splice|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Splice_Site_p.G444_splice|AKNA_ENST00000374088.3_Splice_Site_p.G525_splice	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGATGGCCACCCTGGAATACA	0.582000													18	17					8.28177e-16	8.94431e-16	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186009011	186009011	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186009011G>A	ENST00000271588.4	+	39	6409	c.6180_splice	c.e39+1	p.Q2060_splice	HMCN1_ENST00000367492.2_Splice_Site_p.Q2060_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2060	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGATTACAGGTACCTTCAT	0.413000													10	31					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526219	52526219	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:52526219C>T	ENST00000345716.4	+	21	4370	c.4236C>T	c.(4234-4236)cgC>cgT	p.R1412R	NISCH_ENST00000479054.1_Silent_p.R1412R	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1412					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ATGGCCGCCGCGTCCGGGACC	0.627000													18	62					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	95034757	95034757	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:95034757G>A	ENST00000377047.4	+	7	1857	c.1242G>A	c.(1240-1242)gcG>gcA	p.A414A		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	414						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCGTGACAGCGGGCACGTCCA	0.532000													18	16					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6135163	6135163	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:6135163T>A	ENST00000261405.5	-	23	3271	c.3017A>T	c.(3016-3018)gAc>gTc	p.D1006V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1006	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGGTGAGGTCATTGTTCTG	0.527000													15	47					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86942145	86942145	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:86942145C>T	ENST00000234701.3	+	5	817	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	156					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGCATTTGTCCATGAGTGGGC	0.353000													9	28					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4202253	4202253	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:4202253C>T	ENST00000379453.4	-	2	1752	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	546				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TCGTGTGGGACGCCTAGGGAC	0.667000													3	23					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	91					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632000													7	115					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113810526	113810526	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:113810526G>A	ENST00000280800.3	+	3	488	c.457G>A	c.(457-459)Gag>Aag	p.E153K	PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	153					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGGCTACTGCGAGAGGCTGAA	0.572000													32	72					0	0	1	0	0
PCID2	55795	broad.mit.edu	37	13	113849441	113849441	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113849441T>C	ENST00000375457.2	-	6	899		c.e6-2		PCID2_ENST00000246505.5_Splice_Site|PCID2_ENST00000337344.4_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000351317.3_Intron	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGCAGAGCCCTGCAGGGCAAA	0.453000													14	26					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46746931	46746931	+	Missense_Mutation	SNP	C	C	T	rs150782403		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46746931C>T	ENST00000343304.6	-	5	1907	c.1622G>A	c.(1621-1623)cGt>cAt	p.R541H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	541										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACGATAGCACGTGTCAGCTC	0.637000													11	37					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:92789302C>T	ENST00000370343.3	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373000													26	84					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52960705	52960705	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:52960705C>T	ENST00000295213.4	+	12	1950	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494W	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCTCGAAGTCGGAGTCCTTC	0.348000													4	38					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82336338	82336338	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:82336338C>T	ENST00000329713.4	-	2	1308	c.873G>A	c.(871-873)tcG>tcA	p.S291S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	291					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CACTGCCAAGCGAGCTGGAGC	0.692000													13	41					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127223060	127223060	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:127223060C>T	ENST00000321407.2	-	2	1760	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCCTGGCCGCAACCTGCAGC	0.557000													20	64					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96955623	96955623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:96955623G>A	ENST00000323853.5	-	21	2931	c.2854C>T	c.(2854-2856)Cgc>Tgc	p.R952C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	952						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTAGTCGGCGCTGGTCCAGC	0.552000													5	73					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121437312	121437312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:121437312C>T	ENST00000393667.3	-	8	918	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E265K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	265					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			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)		AAGGATTCTTCGTGTTCCTCA	0.433000													5	59					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577666	67577666	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:67577666A>G	ENST00000310421.4	-	1	1786	c.1528T>C	c.(1528-1530)Ttt>Ctt	p.F510L		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	510					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCAAGGGAAAGCTGTAATTT	0.423000													65	147					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	346452	346452	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:346452G>A	ENST00000343164.4	-	6	620	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	190					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			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)			TTCAAGACCCGCCGCCTGGGG	0.617000													18	39					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611289	44611289	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:44611289C>T	ENST00000336976.6	+	6	1230	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	326					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TAAGAGCTTTCGTCAGAGATC	0.433000													17	136					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409688	105409688	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:105409688C>T	ENST00000333244.5	-	7	12219	c.12100G>A	c.(12100-12102)Gtg>Atg	p.V4034M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4034						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGTTTCACGTCCACTTGG	0.637000													12	184					0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50176534	50176534	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:50176534A>G	ENST00000359332.2	+	3	365	c.275A>G	c.(274-276)tAc>tGc	p.Y92C		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	92						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACAAAGGATACAGCAATCGA	0.358000													12	32					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133976844	133976844	+	Silent	SNP	C	C	A	rs143722443		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:133976844C>A	ENST00000298622.4	+	19	2484	c.2346C>A	c.(2344-2346)gtC>gtA	p.V782V	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCGCCAGGTCATGAGTGAGC	0.687000													3	9					0.004672	0.00471798	1	1	0
DUSP8	1850	broad.mit.edu	37	11	1578608	1578608	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:1578608C>T	ENST00000397374.3	-	7	1145	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T	DUSP8_ENST00000331588.4_Missense_Mutation_p.A340T	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	340	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCTGTGGCAGCGCTCTCTGAG	0.796000													3	5					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30630690	30630690	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:30630690C>T	ENST00000376442.3	-	8	1621	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	476	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AATCTCACCTCATTCCCAAGC	0.587000													10	34					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179240	59179240	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:59179240G>A	ENST00000380516.2	-	19	2856	c.2769C>T	c.(2767-2769)agC>agT	p.S923S	SLTM_ENST00000536328.1_Silent_p.S492S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	923					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCCCGAAGCGCTGCTACGAT	0.562000													4	34					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95571440	95571440	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:95571440G>A	ENST00000556045.1	-	3	290	c.8C>T	c.(7-9)gCg>gTg	p.A3V	DICER1_ENST00000393063.1_Silent_p.G1079G|DICER1_ENST00000526495.1_Silent_p.G1079G|DICER1_ENST00000541352.1_Silent_p.G1079G|DICER1_ENST00000343455.3_Silent_p.G1079G|DICER1_ENST00000527414.1_Silent_p.G1079G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	0					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGACTCCCACGCCAGCATCGC	0.488000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				30	53					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145580838	145580838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:145580838C>T	ENST00000296575.3	+	4	1334	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.R227W	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGTGGGCTGCGGCAGCCCGT	0.448000													12	132					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62499360	62499360	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:62499360T>C	ENST00000283269.9	-	17	2814	c.2603A>G	c.(2602-2604)gAg>gGg	p.E868G	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000383710.4_Intron	NM_183394.2	NP_899631.1	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	865	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACAGGATGCTCATACATTTC	0.433000													4	7					0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66344197	66344197	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:66344197C>A	ENST00000299608.2	-	16	1654	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	446					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CTAATACATCCTTGGGCTCCT	0.353000													7	74					2.0095e-06	2.09102e-06	1	1	0
TAF1	6872	broad.mit.edu	37	X	70613199	70613199	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70613199T>C	ENST00000449580.1	+	21	3148	c.3097T>C	c.(3097-3099)Tca>Cca	p.S1033P	TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P|TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1033					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCGCACAATGTCAACAGAACA	0.453000													28	6					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99885247	99885247	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:99885247T>C	ENST00000327681.6	-	17	2721	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	730					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAGACCGTAGAGAACTTT	0.363000													15	19					0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23876823	23876823	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:23876823G>A	ENST00000379226.4	-	6	647	c.416C>T	c.(415-417)cCg>cTg	p.P139L	APOO_ENST00000379220.3_Missense_Mutation_p.P120L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	139					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GAAACCAGGCGGATACACTAG	0.403000													13	4					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207548	81207548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:81207548G>T	ENST00000312465.7	+	3	755	c.529G>T	c.(529-531)Gca>Tca	p.A177S	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	177					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTATGCCTCAGCAATACATAG	0.453000													6	91					0.00198382	0.00201126	1	1	0
NPAT	4863	broad.mit.edu	37	11	108068119	108068119	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:108068119A>G	ENST00000278612.8	-	2	171	c.66T>C	c.(64-66)tcT>tcC	p.S22S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	22	Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.			S -> Y (in Ref. 6; AAB02735).	positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGGCAGGTAGAAATGAGGT	0.308000													12	65					0	0	1	0	0
S100P	6286	broad.mit.edu	37	4	6695686	6695686	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6695686C>T	ENST00000296370.3	+	1	891	c.27C>T	c.(25-27)ggC>ggT	p.G9G	S100P_ENST00000513778.1_Intron	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	9					endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CAGCCATGGGCATGATCATAG	0.587000													15	32					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715064	165715064	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:165715064C>T	ENST00000543069.1	-	2	1016	c.435G>A	c.(433-435)ctG>ctA	p.L145L	C6orf118_ENST00000230301.8_Silent_p.L249L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	249										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCACCTGCTGCAGCTTTCTCT	0.607000													7	83					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65307998	65307998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65307998T>C	ENST00000301873.5	-	22	3333	c.3065A>G	c.(3064-3066)aAg>aGg	p.K1022R	LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1022	EGF-like 10; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GAAGCCCTGCTTGCAGTAGCA	0.652000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	39					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47665033	47665033	+	Missense_Mutation	SNP	C	C	T	rs17183248	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:47665033C>T	ENST00000397708.1	-	24	4980	c.4726G>A	c.(4726-4728)Gtc>Atc	p.V1576I	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1576I|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1576			V -> I (in dbSNP:rs17183248).		DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.V1576I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCGTCTTCGACGTACTGAATG	0.542000													20	36					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102737391	102737391	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:102737391G>A	ENST00000210633.3	+	4	417	c.339G>A	c.(337-339)acG>acA	p.T113T	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000370250.4_Silent_p.T113T			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	113	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCCACAGACGGAGTGCTTTA	0.572000													29	56					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468861	241468861	+	Silent	SNP	G	G	A	rs147984796		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:241468861G>A	ENST00000391987.1	-	5	645	c.279C>T	c.(277-279)gaC>gaT	p.D93D	ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000401804.1_Silent_p.D182D|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.D93D|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405523.3_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	93							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ACAGCCCCACGTCCTGGCTGC	0.592000													5	36					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904703	62904703	+	Missense_Mutation	SNP	G	G	A	rs139861996	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:62904703G>A	ENST00000308824.6	+	6	963	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PCMTD2_ENST00000369758.3_Missense_Mutation_p.R252Q|PCMTD2_ENST00000266078.6_Missense_Mutation_p.R55Q|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	279	Poly-Arg.					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGTTTAAACGAAGGAGAGTT	0.473000													22	69					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343381	118343381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:118343381C>T	ENST00000534358.1	+	3	1530	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W|KMT2A_ENST00000389506.5_Missense_Mutation_p.R503W	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCCTGAGGAGCGGAGCGATAC	0.502000													22	103					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144940328C>T	ENST00000525985.1	-	2	7165	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H				P58107	EPIPL_HUMAN	epiplakin 1	2365						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692000													12	279					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13325397	13325397	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:13325397G>A	ENST00000360228.5	-	39	5756	c.5757C>T	c.(5755-5757)gaC>gaT	p.D1919D	CACNA1A_ENST00000573710.2_Silent_p.D1920D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1920					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAGCTCAGCGTCCATCTGCT	0.582000													9	14					0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119303006	119303006	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:119303006G>A	ENST00000553456.3	+	1	1052	c.228G>A	c.(226-228)tcG>tcA	p.S76S	EMX2_ENST00000442245.4_Silent_p.S76S|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	76						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGGCGGTCTCGCACCCGCCCA	0.726000													3	12					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813806	248813806	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248813806C>A	ENST00000344889.3	-	1	379	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGTTGCAGATGGCTAC	0.542000													14	117					9.16793e-09	9.65739e-09	1	1	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	14					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14020732	14020732	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14020732G>A	ENST00000318003.7	+	2	398	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	CC2D1A_ENST00000589606.1_Missense_Mutation_p.G53R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	53					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTTTGGTCGGGGGCCAGCC	0.577000													11	30					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228475944	228475944	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:228475944C>T	ENST00000570156.2	+	42	11355	c.11281C>T	c.(11281-11283)Cgt>Tgt	p.R3761C	OBSCN_ENST00000366707.4_Missense_Mutation_p.R451C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3332C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2179C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R451C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3332C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2797	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATCCGTGGCCTGGC	0.607000													17	42					0	0	1	0	0
PCDHB1	0	broad.mit.edu	37	5	140431844	140431844	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140431844G>A	ENST00000306549.3	+	1	866	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		263	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCCACGGTGACTGCCG	0.532000													6	30					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622631	65622631	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:65622631C>A	ENST00000327987.4	-	11	2109	c.1858_splice	c.e11+1	p.A620_splice		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	620										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCCTCACCTGTCCTCTCA	0.567000													9	78					3.09899e-07	3.24445e-07	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70331617	70331617	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70331617G>A	ENST00000338508.4	-	32	4783	c.4784C>T	c.(4783-4785)gCc>gTc	p.A1595V	SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1215					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAACCTTGGCCATCCCAGG	0.577000													4	55					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793341	17793341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17793341C>T	ENST00000379472.3	+	2	730	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	234						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R234C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACGCAAGTGCGCTACTACCG	0.582000													23	83					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133362	22133362	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:22133362G>A	ENST00000408935.1	+	1	66	c.66G>A	c.(64-66)gtG>gtA	p.V22V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATAACCGGGTGCTGGAAATGC	0.418000													37	69					0	0	1	0	0
NIM1	0	broad.mit.edu	37	5	43280399	43280399	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:43280399C>T	ENST00000512796.1	+	4	2378	c.879C>T	c.(877-879)caC>caT	p.H293H	NIM1_ENST00000326035.2_Silent_p.H293H			Q8IY84	NIM1_HUMAN		293	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TACCGCCGCACGTGTCAGAGC	0.532000													7	61					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38038579	38038579	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38038579C>A	ENST00000283713.6	+	6	728	c.462C>A	c.(460-462)tcC>tcA	p.S154S	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S154S			O15195	VILL_HUMAN	villin-like	154					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542000											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	71					2.0095e-06	2.09102e-06	1	1	0
C3orf70	285382	broad.mit.edu	37	3	184801249	184801249	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:184801249G>A	ENST00000335012.2	-	2	489	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	100										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TTCGGTGAGCGAGACTGAGAT	0.483000													7	83					0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110603475	110603475	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110603475G>A	ENST00000369792.4	-	4	999	c.912C>T	c.(910-912)ccC>ccT	p.P304P	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	304						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGGTGGGGGGAAAGCCAT	0.617000													6	31					0	0	1	0	0
MNS1	55329	broad.mit.edu	37	15	56735681	56735681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:56735681G>A	ENST00000260453.3	-	7	1122	c.958C>T	c.(958-960)Cga>Tga	p.R320*	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	320	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AATTCTTGTCGCACTTGTTCC	0.294000													7	27					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2143019	2143019	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2143019C>T	ENST00000262304.4	-	38	11300	c.11092G>A	c.(11092-11094)Gcc>Acc	p.A3698T	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3698					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGACGGTAGGCGTGCCCATGG	0.642000													11	73					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166621492	166621492	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:166621492G>A	ENST00000392701.3	-	3	1365	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	197	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CGTGGACCACGCTTCATTATG	0.423000													17	26					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:39095333C>T	ENST00000295373.6	-	2	341	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.458000													7	57					0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9749627	9749627	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:9749627C>T	ENST00000318950.6	+	5	773	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	SWAP70_ENST00000447399.2_Missense_Mutation_p.R166W	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	224	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GGGCCACAGACGGAAAAACTG	0.348000													5	55					0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172195842	172195842	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172195842C>T	ENST00000239223.3	-	4	1269	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	343	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GGGATGGAGACGGGGAAGTTG	0.642000													7	60					0	0	1	0	0
GPX4	2879	broad.mit.edu	37	19	1106407	1106407	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1106407C>T	ENST00000589115.1	+	5	521	c.485C>T	c.(484-486)tCg>tTg	p.S162L	GPX4_ENST00000354171.8_Silent_p.I170I			P36969	GPX4_HUMAN	glutathione peroxidase 4	0					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|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)	Glutathione(DB00143)	AGTTCCTCATCGACAAGAACG	0.652000													10	36					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241837	60241837	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:60241837C>T	ENST00000269499.5	+	13	2941	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	ZCCHC2_ENST00000586834.1_Silent_p.I520I	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	841					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCCTGAGCATCGCATCACCAA	0.507000													25	47					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277260	135277260	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:135277260G>A	ENST00000334270.2	-	2	988	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	317					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTTTCACCATGCAGGCCCACA	0.493000													39	85					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435189	56435189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:56435189G>A	ENST00000584437.1	-	8	3903	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RNF43_ENST00000407977.2_Nonsense_Mutation_p.R650*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R650*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R609*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R609*|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	650	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.R650*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGGTGTCGGGCAGAGAGG	0.637000													32	72					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751327	46751327	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46751327C>T	ENST00000343304.6	-	4	1487	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	401										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGACGGGTGCGAGCACCCTT	0.547000													32	58					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42046568	42046568	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:42046568G>A	ENST00000220809.4	-	4	393	c.137C>T	c.(136-138)aCg>aTg	p.T46M	PLAT_ENST00000524009.1_Missense_Mutation_p.T46M|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.T46M|PLAT_ENST00000270189.6_Missense_Mutation_p.T46M|PLAT_ENST00000429089.2_Missense_Mutation_p.T46M|PLAT_ENST00000429710.2_Missense_Mutation_p.T46M	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	46	Fibronectin type-I.|Important for binding to annexin A2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TATCATCTGCGTTTTTTCATC	0.493000													7	130					0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33344575	33344575	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:33344575G>A	ENST00000315249.7	-	4	864	c.642C>T	c.(640-642)agC>agT	p.S214S	RFFL_ENST00000584655.1_Intron|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RAD51L3-RFFL_ENST00000593039.1_Intron			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	214					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGGCCACGCTCTCCAGGT	0.527000													4	7					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066568	18066568	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:18066568T>C	ENST00000506618.2	-	1	918	c.838A>G	c.(838-840)Aag>Gag	p.K280E		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	280					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGCTTCATCTTCTCATCTTGA	0.428000													46	79					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590779	172590779	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172590779C>T	ENST00000231668.9	+	7	775	c.671C>T	c.(670-672)tCg>tTg	p.S224L	BNIP1_ENST00000351486.5_Missense_Mutation_p.S181L|BNIP1_ENST00000352523.6_Missense_Mutation_p.S190L|BNIP1_ENST00000393770.4_Missense_Mutation_p.S147L	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	181					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGTCCATGTCGGGCACCATC	0.498000													5	57					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763518	110763518	+	Silent	SNP	C	C	T	rs146797927		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:110763518C>T	ENST00000451085.1	+	4	1736	c.690C>T	c.(688-690)aaC>aaT	p.N230N	LRRN3_ENST00000308478.5_Silent_p.N230N|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Silent_p.N230N|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	230						integral to membrane		p.N230N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACCAGATAACGCCTTGGTTG	0.358000													7	66					0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22153339	22153339	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:22153339G>A	ENST00000215832.6	-	4	759	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	MAPK1_ENST00000398822.3_Missense_Mutation_p.R191C|MAPK1_ENST00000544786.1_Missense_Mutation_p.R191C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	191	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	CTGTACCAACGTGTGGCCACA	0.428000													12	38					0	0	1	0	0
PTGIR	0	broad.mit.edu	37	19	47127100	47127100	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:47127100G>A	ENST00000291294.2	-	2	516	c.383C>T	c.(382-384)gCg>gTg	p.A128V	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A128V	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	128					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GTCCAGCTGCGCGTAGAGGTA	0.692000													9	10					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75563390	75563390	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:75563390C>T	ENST00000299641.4	-	12	2685	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	NDST2_ENST00000309979.6_Missense_Mutation_p.R695Q	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	695	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GATCTTGGCTCGTGGCAGGAG	0.557000													16	97					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201358366	201358366	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:201358366C>T	ENST00000391967.2	-	2	405	c.104G>A	c.(103-105)cGc>cAc	p.R35H	LAD1_ENST00000367313.3_Missense_Mutation_p.R49H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	35	Poly-Arg.					basement membrane	structural molecule activity	p.R35L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTCAGGTTGCGGTGCCGCCG	0.657000													5	24					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156411927	156411927	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:156411927G>A	ENST00000461166.1	+	3	1624	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	346	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTACCACACAGTCTGGAAATT	0.383000													24	46					0	0	1	0	0
TAS1R1	0	broad.mit.edu	37	1	6634741	6634741	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6634741C>A	ENST00000333172.6	+	3	742	c.549C>A	c.(547-549)ccC>ccA	p.P183P	TAS1R1_ENST00000328191.4_Silent_p.P183P|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	183					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAGTATCCCTCTTTCCTGC	0.587000													23	34					1.22574e-08	1.28853e-08	1	1	0
EP400	57634	broad.mit.edu	37	12	132502815	132502815	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:132502815G>A	ENST00000333577.4	+	22	4388	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	EP400_ENST00000332482.4_Missense_Mutation_p.A1354T|EP400_ENST00000389562.2_Missense_Mutation_p.A1390T|EP400_ENST00000389561.2_Missense_Mutation_p.A1391T|EP400_ENST00000330386.6_Missense_Mutation_p.A1391T			Q96L91	EP400_HUMAN	E1A binding protein p400	1427					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGTCACGAGGCAGAGTTGCT	0.463000													6	42					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164500	139164500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:139164500G>A	ENST00000395297.1	-	13	2388	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	740										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGCCGCTTGGCAAACTTGTG	0.522000										HNSCC(54;0.14)			11	31					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28014243	28014243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:28014243G>A	ENST00000381116.1	-	5	577	c.343C>T	c.(343-345)Cga>Tga	p.R115*	MTIF3_ENST00000431572.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Nonsense_Mutation_p.R115*|MTIF3_ENST00000405591.2_Nonsense_Mutation_p.R115*			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	115					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGAACCAGTCGCAGGTCTCGC	0.478000													6	76					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520891	175520891	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:175520891A>G	ENST00000454872.1	+	14	2416	c.2288A>G	c.(2287-2289)cAa>cGa	p.Q763R		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	763					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAGACCCTTCAAGAAGCCCTG	0.433000													5	36					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25815687	25815687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:25815687G>A	ENST00000374343.4	+	9	1699	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	TMEM57_ENST00000399763.3_Missense_Mutation_p.R149Q|TMEM57_ENST00000399766.3_Missense_Mutation_p.R280Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	507						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACCTTACGGAATCGGATC	0.448000													6	23					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729067	196729067	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:196729067G>A	ENST00000312428.6	-	41	7412	c.7312C>T	c.(7312-7314)Cgt>Tgt	p.R2438C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2438	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2438C(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						TCTAACTGACGCATCTTATCA	0.433000													5	75					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234237188	234237188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234237188C>T	ENST00000409110.1	+	8	807	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	193					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCCAGCCCCGAGCTGAGGC	0.582000													15	45					0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49574217	49574217	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:49574217C>T	ENST00000327171.3	+	6	737	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	GALK2_ENST00000559454.1_Missense_Mutation_p.R156C|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000396509.2_Missense_Mutation_p.R156C|GALK2_ENST00000543495.1_Missense_Mutation_p.R51C|GALK2_ENST00000560031.1_Missense_Mutation_p.R180C|GALK2_ENST00000544523.1_Missense_Mutation_p.R156C	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	180					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CAAGAGTGAGCGTTACATTGG	0.413000													18	45					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463271	25463271	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:25463271G>A	ENST00000264709.3	-	19	2559	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	741					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.A741V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGCCGCGCATCATGCAG	0.572000			"""Mis, F, N, S"""		AML								25	45					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10219597	10219597	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10219597C>T	ENST00000256458.4	+	2	260	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	57	Death.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTGAGCATCACGCGGGAGCTG	0.637000													16	33					0	0	1	0	0
PFN2	5217	broad.mit.edu	37	3	149684332	149684332	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:149684332C>T	ENST00000239940.7	-	3	619	c.367G>A	c.(367-369)Gga>Aga	p.G123R	PFN2_ENST00000452853.2_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R			P35080	PROF2_HUMAN	profilin 2	123					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	p.G123R(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTATTCAATCCGCCTCCATGG	0.388000													30	377					0	0	1	0	0
PCDHA5	0	broad.mit.edu	37	5	140203213	140203213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140203213G>A	ENST00000529859.1	+	1	1853	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H	NM_018908.2	NP_061731.1												p.R618H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGTGCGCGCATCCCGTTC	0.652000													15	64					0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159711354	159711354	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:159711354G>A	ENST00000305579.2	+	5	727		c.e5-1		IL12A_ENST00000480787.1_Splice_Site|IL12A_ENST00000466512.1_Splice_Site|CTD-2049J23.2_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)						cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTCCTCTAGAATGGGAGTT	0.388000													8	84					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48625401	48625401	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:48625401A>C	ENST00000297423.4	+	15	2539	c.2155A>C	c.(2155-2157)Agc>Cgc	p.S719R	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		TGCCCCTCACAGCCTCTTCTT	0.607000													17	46					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235416114	235416114	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:235416114G>A	ENST00000264183.3	-	6	782	c.285C>T	c.(283-285)gaC>gaT	p.D95D	ARID4B_ENST00000349213.3_Silent_p.D95D|ARID4B_ENST00000366603.2_Silent_p.D95D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTCATCTCCGTCATCAAAAA	0.378000													12	32					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14491076	14491076	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:14491076T>C	ENST00000249923.3	-	15	2071	c.1771A>G	c.(1771-1773)Act>Gct	p.T591A	COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	591					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGCAGGATAGTAGCCATGAGC	0.398000													5	52					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226016443	226016443	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226016443A>G	ENST00000366837.4	+	2	209	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	5					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGGCTAGAAATCCTCCTCAC	0.587000													4	19					0	0	1	0	0
TTI2	80185	broad.mit.edu	37	8	33357854	33357854	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:33357854G>A	ENST00000431156.2	-	7	2032	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000520636.1_Missense_Mutation_p.R441W|TTI2_ENST00000360742.5_Missense_Mutation_p.R472W|MAK16_ENST00000360128.6_3'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	472							binding										ACCTTTACCCGTCCTTGAGAA	0.468000													11	30					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10578250	10578250	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:10578250G>A	ENST00000380702.2	+	16	2548	c.2548G>A	c.(2548-2550)Gca>Aca	p.A850T	PDE4A_ENST00000352831.6_Missense_Mutation_p.A872T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A850T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A811T|PDE4A_ENST00000293683.5_Missense_Mutation_p.A846T|PDE4A_ENST00000344979.3_Missense_Mutation_p.A633T			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	872					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GGACACATCCGCACTCCCAGC	0.677000													5	52					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185259915	185259915	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:185259915A>G	ENST00000367500.4	+	19	2848	c.2683A>G	c.(2683-2685)Atg>Gtg	p.M895V	SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	895										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTGTGAAGACATGCTCAACTA	0.403000													11	16					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19748735	19748735	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:19748735C>A	ENST00000203556.4	-	10	1058	c.921G>T	c.(919-921)ctG>ctT	p.L307L	GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000587238.1_Silent_p.L307L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	307					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCCGCCTCAGCACTTCAT	0.672000													8	15					2.17888e-05	2.24902e-05	1	1	0
GIGYF1	64599	broad.mit.edu	37	7	100280926	100280926	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100280926C>T	ENST00000275732.5	-	18	3403		c.e18+1			NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAGCACCCACGTGCTTGCGC	0.642000													30	49					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823665	70823665	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70823665G>A	ENST00000373695.1	+	7	1075	c.538G>A	c.(538-540)Gac>Aac	p.D180N	ACRC_ENST00000373696.3_Missense_Mutation_p.D180N			Q96QF7	ACRC_HUMAN	acidic repeat containing	180	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAATAG	0.498000													119	60					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30776149	30776149	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776149T>C	ENST00000382363.3	-	7	984	c.910A>G	c.(910-912)Aag>Gag	p.K304E		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	304						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CGCCGTGTCTTGAGGGATGCC	0.657000													10	65					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10392202	10392202	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10392202G>A	ENST00000397077.1	-	14	2636	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	ATP2B2_ENST00000383800.4_Silent_p.G687G|ATP2B2_ENST00000360273.2_Silent_p.G732G|ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000352432.4_Silent_p.G732G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	732					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGATATTGTCGCCAGTGACCA	0.632000													12	27					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788424	10788424	+	Missense_Mutation	SNP	G	G	A	rs143356838		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:10788424G>A	ENST00000283025.2	-	1	378	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	103					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCGGCCCCACGCACCTGCAGC	0.672000													7	78					0	0	1	0	0
TMEM128	85013	broad.mit.edu	37	4	4239662	4239662	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:4239662G>A	ENST00000254742.2	-	4	913	c.326_splice	c.e4-1	p.C109_splice	TMEM128_ENST00000540397.1_Splice_Site_p.C133_splice|TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000382753.4_Splice_Site_p.C133_splice	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN	transmembrane protein 128	133						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAATGTTGAAGCTGAAAAGAA	0.343000													8	33					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27193181	27193181	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:27193181C>T	ENST00000335625.5	+	11	2078	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	GABRA5_ENST00000400081.3_Missense_Mutation_p.T397M|GABRA5_ENST00000355395.5_Missense_Mutation_p.T397M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	397					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAGCAGGGACGTCGAATACA	0.423000													4	13					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9776141	9776141	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9776141G>A	ENST00000383829.2	+	2	721	c.317G>A	c.(316-318)cGc>cAc	p.R106H	BRPF1_ENST00000302054.3_Missense_Mutation_p.R106H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R106H|BRPF1_ENST00000457855.1_Missense_Mutation_p.R106H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R106H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	106	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTGCATGGCCGCGTCCACCGC	0.597000													28	42					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29488975	29488975	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:29488975T>C	ENST00000283351.4	-	7	1201		c.e7-2		TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_Splice_Site	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAGCCATCTACTGAAAAAG	0.358000													11	30					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21053359	21053359	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:21053359T>C	ENST00000261383.3	-	32	4627	c.4628A>G	c.(4627-4629)gAc>gGc	p.D1543G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1543	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGAGATTGTCGGGCAGTTC	0.517000													20	48					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264379	67264379	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67264379G>A	ENST00000258201.4	-	19	3136	c.2889C>T	c.(2887-2889)taC>taT	p.Y963Y	FHOD1_ENST00000567687.1_Silent_p.Y542Y	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	963	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTGCGGGGTGTAGCCCAGGT	0.602000													13	79					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39261856	39261856	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:39261856G>A	ENST00000280481.7	+	1	591	c.375G>A	c.(373-375)aaG>aaA	p.K125K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	125					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAGTCCCAAGCGCTTCCCGT	0.697000													3	2					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422012	1422012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1422012C>A	ENST00000270349.9	-	5	898	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	257					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTTCACGCCCTTCCAGAGGC	0.637000													15	56					2.32078e-09	2.44972e-09	1	1	0
TADA3	10474	broad.mit.edu	37	3	9825746	9825746	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9825746C>T	ENST00000343450.2	-	8	1619	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	TADA3_ENST00000440161.1_Missense_Mutation_p.A358T|TADA3_ENST00000301964.2_Missense_Mutation_p.A358T	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	358					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CGGTTGTGGGCACTAAGTGCC	0.627000													5	20					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159860404	159860404	+	Silent	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:159860404G>C	ENST00000368099.4	-	3	202	c.138C>G	c.(136-138)gcC>gcG	p.A46A	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	46						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGGCCCTGGGCTGGGGACT	0.532000													4	55					0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131196462	131196462	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:131196462C>T	ENST00000372842.1	+	11	4195	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	CERCAM_ENST00000372838.4_Missense_Mutation_p.R429W			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	429					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCGGCTGGAGCGGCTGATGGA	0.632000													6	36					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35255348	35255348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:35255348C>T	ENST00000360310.1	-	13	2157	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*|BAZ1A_ENST00000358716.4_Intron	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	530					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAACTGTGGCCATGCAGCTG	0.358000													5	27					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534048	16534048	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16534048G>A	ENST00000270747.3	-	5	979	c.843C>T	c.(841-843)aaC>aaT	p.N281N	ARHGEF19_ENST00000421561.1_Silent_p.N281N	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	281					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCCGCTCGTTGGTGCTCC	0.622000													7	20					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	774					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCTAGCTGACGCCGGAAACG	0.657000													10	16					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131544898	131544898	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:131544898C>A	ENST00000401867.1	-	8	1404	c.836G>T	c.(835-837)aGg>aTg	p.R279M	P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	279						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTCCACAGGCCTCTCATAGAT	0.512000													7	127					0.00307968	0.00311612	1	1	0
C3orf20	84077	broad.mit.edu	37	3	14746120	14746120	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:14746120C>T	ENST00000253697.3	+	7	1607	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000435614.1_Silent_p.F263F|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	385						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTCCTCCTTCGTTTAGTATC	0.463000													33	99					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879989	39879989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:39879989G>A	ENST00000221265.3	-	6	724	c.394C>T	c.(394-396)Cga>Tga	p.R132*	PAF1_ENST00000595564.1_Nonsense_Mutation_p.R122*|PAF1_ENST00000221266.7_Nonsense_Mutation_p.R122*	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	132					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCTGTCTTTCGCATCCATGGC	0.542000													22	54					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20768869	20768869	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:20768869C>T	ENST00000256925.7	+	2	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W|CABLES1_ENST00000400473.2_5'UTR	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	305	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCCCCTCTCCGGAGGTAATT	0.398000													5	15					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450453	44450453	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:44450453C>T	ENST00000360029.3	-	1	371	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	30						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gcggcggcggccgacgcgccg	0.687000										HNSCC(17;0.042)			4	4					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16956572	16956572	+	RNA	SNP	G	G	A	rs112034187		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16956572G>A	ENST00000412962.1	-	0	294																											CACTCTCGCTGTCGCTAAGCT	0.642000													5	33					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169815	49169815	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:49169815C>T	ENST00000307885.4	-	8	2431	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	579					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGGCATCAGCCCTTCCATGG	0.647000													8	13					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416462	30416462	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30416462C>A	ENST00000333027.3	+	17	3142	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	MTMR3_ENST00000351488.3_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.A938A|MTMR3_ENST00000401950.2_Silent_p.A938A|MTMR3_ENST00000323630.5_Silent_p.A802A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	938					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAAACAGGGCCTCAGAGCAGC	0.587000													20	47					1.56452e-12	1.67209e-12	1	1	0
DGKD	8527	broad.mit.edu	37	2	234371288	234371288	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234371288G>T	ENST00000264057.2	+	26	3105		c.e26-1		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTTCTTCTAGGGGCTCAACT	0.592000													8	113					1.26484e-09	1.33787e-09	1	1	0
MASP1	5648	broad.mit.edu	37	3	186947661	186947661	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:186947661C>T	ENST00000337774.5	-	11	1717	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	443					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CATCAGCTTCCGGGAGAACTT	0.607000													9	21					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98418415	98418415	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:98418415C>G	ENST00000186436.5	-	25	2889	c.2661G>C	c.(2659-2661)ttG>ttC	p.L887F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	887						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCACCTTACTCAAGTTAAACC	0.299000													10	15					0	0	1	0	0
GMPPB	29925	broad.mit.edu	37	3	49759676	49759676	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:49759676G>A	ENST00000480687.1	-	8	872	c.756C>T	c.(754-756)ggC>ggT	p.G252G	GMPPB_ENST00000308388.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.G252G			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	252					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGCACGTTGCCCACAATGC	0.602000													6	46					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129800950	129800950	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:129800950C>T	ENST00000358825.5	-	11	1722	c.1491G>A	c.(1489-1491)acG>acA	p.T497T	PRDM10_ENST00000423662.2_Silent_p.T411T|PRDM10_ENST00000528746.1_Silent_p.T471T|PRDM10_ENST00000526082.1_Silent_p.T411T|PRDM10_ENST00000304538.6_Silent_p.T411T|PRDM10_ENST00000360871.3_Silent_p.T497T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGCTGTCAGCGTGCTCTGGG	0.622000													14	56					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2222180	2222180	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:2222180C>T	ENST00000398665.3	+	24	3048	c.3012C>T	c.(3010-3012)caC>caT	p.H1004H		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1004						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CTCCCGCCCACCAGCTCTCCT	0.701000													12	16					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4847908	4847908	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:4847908G>A	ENST00000302640.8	+	54	7534	c.7184G>A	c.(7183-7185)tGt>tAt	p.C2395Y	ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000443694.2_Missense_Mutation_p.C2395Y|ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2410					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGTGATCTGTGCCATGGGG	0.463000													12	37					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832714	42832714	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:42832714C>T	ENST00000314073.5	+	13	2946	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R924W					GLTSCR1-like																		GAAGGCCAGCCGGAGAGAGCC	0.517000													6	34					0	0	1	0	0
CCDC109B	55013	broad.mit.edu	37	4	110608693	110608693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:110608693C>T	ENST00000394650.4	+	8	1089	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	319						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CTGAAACAGGCGCGTCATTCT	0.348000													9	24					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12017970	12017970	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:12017970C>T	ENST00000196061.4	+	8	840	c.813C>T	c.(811-813)gaC>gaT	p.D271D	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.D318D	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	271					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGTGTGACGAAGGCTTGC	0.632000													29	34					0	0	1	0	0
GPRC5B	0	broad.mit.edu	37	16	19883185	19883185	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:19883185C>A	ENST00000300571.2	-	2	1174	c.983G>T	c.(982-984)cGg>cTg	p.R328L	GPRC5B_ENST00000537135.1_Missense_Mutation_p.R354L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R328L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	328										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CATATAGGCCCGCGGCAGCTG	0.607000													5	60					3.59834e-05	3.70672e-05	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93768864	93768864	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:93768864G>A	ENST00000265990.6	+	28	4310	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	BTAF1_ENST00000544642.1_Silent_p.P162P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1334	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.P1334P(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGTTTGTCCGCCAACATTAA	0.408000													21	47					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033216	41033216	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:41033216G>A	ENST00000380620.3	+	5	1322	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	B3GALT5_ENST00000380618.1_Missense_Mutation_p.V244M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V244M|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V244M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	244					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGGAAGACGTGTTTGTGGG	0.557000													26	56					0	0	1	0	0
S100A4	6275	broad.mit.edu	37	1	153516337	153516337	+	Silent	SNP	G	G	A	rs111468775	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:153516337G>A	ENST00000368716.4	-	3	351	c.204C>T	c.(202-204)aaC>aaT	p.N68N	S100A4_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000354332.4_Silent_p.N68N	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	68	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTCCACCTCGTTGTCCCTGT	0.483000													14	128					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25944348	25944348	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:25944348G>A	ENST00000398988.3	+	21	2621	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000319524.6_Missense_Mutation_p.D863N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	861	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGGCTTTCGACCTGCAGGA	0.607000													4	17					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100284287	100284287	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100284287G>A	ENST00000275732.5	-	7	1888	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	227										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGGCGGAGCGCCAGCGGTCG	0.687000													27	47					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60098741	60098741	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:60098741T>C	ENST00000261187.4	+	2	323	c.159T>C	c.(157-159)acT>acC	p.T53T	SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000549465.1_Silent_p.T53T	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	53						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TATTCCACACTACCTACAGTG	0.383000													24	46					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84690912	84690912	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84690912A>G	ENST00000564996.1	+	3	640	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	167	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGATGCCTTCATCGATGGCTT	0.567000													8	49					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43515294	43515294	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:43515294G>A	ENST00000430334.3	-	12	3234	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1034					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTTCACCACAGCCTGGCAGCT	0.647000													4	22					0	0	1	0	0
SPARC	6678	broad.mit.edu	37	5	151046004	151046004	+	Missense_Mutation	SNP	G	G	A	rs150910656		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:151046004G>A	ENST00000231061.4	-	8	965	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	218					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TCGAAGTCCCGGGCCAGCAGC	0.562000													11	29					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1482438	1482438	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1482438G>A	ENST00000300954.5	-	14	1794	c.1733C>T	c.(1732-1734)aCg>aTg	p.T578M		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	578					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCGGCCGTCCCATAGAG	0.682000													13	18					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1543259	1543259	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1543259G>T	ENST00000263071.4	-	6	1135	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	362	EGF-like 6.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGTATCACAGGACCCCTGAA	0.642000													7	35					2.7689e-08	2.90479e-08	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35425622	35425622	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:35425622A>G	ENST00000287272.2	+	3	349	c.329A>G	c.(328-330)aAg>aGg	p.K110R	UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	110	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAGGTTTGAAGGTCCGCGAA	0.463000													11	131					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20160892	20160892	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:20160892C>T	ENST00000395530.2	+	9	2774	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	SPECC1_ENST00000395527.4_Missense_Mutation_p.R937W|SPECC1_ENST00000536879.1_Missense_Mutation_p.R277W|SPECC1_ENST00000261503.5_Missense_Mutation_p.R937W|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	937						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGCTTCCACCCGGGCATGGAA	0.502000													16	23					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225307	79225307	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:79225307G>A	ENST00000374759.3	-	14	2434	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A684V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	684					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGCTGGCTGGCCGCCTGGTT	0.736000													3	12					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67865241	67865241	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67865241G>A	ENST00000562787.1	-	10	1129	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.A194V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	194					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AAGAGGTGTGGCAAAGGTCAG	0.617000													17	28					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42423017	42423017	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:42423017C>A	ENST00000328823.9	+	6	793	c.762C>A	c.(760-762)gcC>gcA	p.A254A	WBP2NL_ENST00000543212.1_Silent_p.A180A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GATATGGAGCCCCACCTCTCG	0.597000													9	187					0.000673444	0.00068547	1	1	0
CAPZA1	829	broad.mit.edu	37	1	113197226	113197226	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:113197226G>T	ENST00000263168.3	+	5	1031	c.359G>T	c.(358-360)tGg>tTg	p.W120L	CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	120					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAGTCTTGGAGAGAATCC	0.413000													9	91					2.17888e-05	2.24902e-05	1	1	0
NEURL4	84461	broad.mit.edu	37	17	7224437	7224437	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:7224437G>A	ENST00000399464.2	-	20	3369	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	NEURL4_ENST00000315614.7_Silent_p.G1116G|NEURL4_ENST00000570460.1_Silent_p.G1094G	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											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						TTACTCCCAGGCCATGCTCCT	0.612000													4	45					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940628	144940628	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144940628G>A	ENST00000525985.1	-	2	6865	c.6794C>T	c.(6793-6795)gCg>gTg	p.A2265V				P58107	EPIPL_HUMAN	epiplakin 1	2265						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCCTGCGCCTCCAGCAG	0.726000													6	86					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592024	6592024	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:6592024T>A	ENST00000254579.6	+	42	13846	c.13282T>A	c.(13282-13284)Tct>Act	p.S4428T	DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTTCCTGAGTCTCGAAGAGG	0.637000													12	18					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26365435	26365435	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:26365435C>T	ENST00000522362.2	-	3	1731	c.837G>A	c.(835-837)gcG>gcA	p.A279A		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	279					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gtttctccaccgctctccgga	0.602000													5	46					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165809221	165809221	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:165809221A>G	ENST00000303735.4	-	2	387	c.57T>C	c.(55-57)gtT>gtC	p.V19V	SLC38A11_ENST00000409662.1_Silent_p.V19V|SLC38A11_ENST00000409149.3_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	19					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTTACCTGTAACATATGAAA	0.363000													5	29					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27372111	27372111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:27372111C>T	ENST00000395762.2	+	10	1133	c.874C>T	c.(874-876)Cga>Tga	p.R292*	IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	292					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAGCGGTCCCGAGGCCAGGA	0.557000													28	65					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979029	58979029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:58979029C>T	ENST00000361050.3	-	1	1395	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	437						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGTGCACTTTCGATGACACTC	0.532000													5	83					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407509	38407509	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:38407509G>A	ENST00000351773.3	+	8	2260	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF37A_ENST00000361085.4_Missense_Mutation_p.R477H	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAAACCTTCCGTCAGAAGTCA	0.403000													29	57					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101871	69101871	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:69101871T>C	ENST00000332644.5	-	3	399	c.238A>G	c.(238-240)Aag>Gag	p.K80E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	80	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGATTTACCTTAGTCTCAATA	0.284000													11	20					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70820236	70820236	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:70820236G>A	ENST00000261776.5	-	2	397	c.137C>T	c.(136-138)aCc>aTc	p.T46I		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	46					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GATTTGCACGGTATTGTTCTG	0.642000													14	34					0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68717386	68717386	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:68717386T>C	ENST00000303795.4	+	2	332	c.161T>C	c.(160-162)aTc>aCc	p.I54T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	54	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAGCTGCGAATCAAACCGGTA	0.368000													3	8					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37697698	37697698	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:37697698G>A	ENST00000315215.7	+	14	2283	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	GPR124_ENST00000412232.2_Silent_p.A857A			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	857					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGTGAAGGCGCGAGTGCTCC	0.632000													14	32					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685313	100685313	+	Missense_Mutation	SNP	C	C	T	rs138135476		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:100685313C>T	ENST00000306151.4	+	3	10680	c.10616C>T	c.(10615-10617)aCa>aTa	p.T3539I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3539	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					ACCCTTTCAACAACTCCTGTT	0.483000													19	386					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244724125	244724125	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:244724125G>A	ENST00000366534.4	+	10	1239	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.E395E|C1orf101_ENST00000366531.3_Silent_p.E244E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	395						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGGGTTGAGTATACAGGAC	0.368000													25	51					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17428224	17428224	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:17428224C>T	ENST00000302539.4	-	26	3402	c.3277G>A	c.(3277-3279)Gtg>Atg	p.V1093M	ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1092	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCTTGGCCACCTTCAGCCCT	0.607000													13	38					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14070466	14070466	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:14070466G>A	ENST00000254337.6	+	8	1313	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	431										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CGGCCCATGCGGGAGCGGACT	0.692000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	52					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103867967	103867967	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:103867967G>A	ENST00000361198.5	-	11	1634	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	LDB1_ENST00000425280.1_Silent_p.D373D	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	373	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.D373D(1)|p.D337D(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TGTCCTCGTCGTCAATGCCGT	0.622000													5	67					0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46111238	46111238	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:46111238G>A	ENST00000006101.4	-	4	252	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	87					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CTCTCAGTCCGGCTGGTCTTG	0.483000													3	13					0	0	1	0	0
TERF2	7014	broad.mit.edu	37	16	69400909	69400909	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:69400909A>G	ENST00000254942.3	-	7	1157	c.1141T>C	c.(1141-1143)Tca>Cca	p.S381P	TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	339					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCCGGGGCTGAACTTTCGTTT	0.517000													19	31					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186947661	186947661	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:186947661C>T	ENST00000337774.5	-	11	1717	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	443					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CATCAGCTTCCGGGAGAACTT	0.607000													9	21					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20235872	20235872	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:20235872C>T	ENST00000361479.5	+	8	1894	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	609					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATGCTTGCCGCCGCCGGAGGG	0.502000													18	120					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129931001	129931001	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:129931001C>T	ENST00000259351.5	+	10	1059	c.792C>T	c.(790-792)tcC>tcT	p.S264S	RALGPS1_ENST00000373434.1_Silent_p.S264S|RALGPS1_ENST00000394022.3_Silent_p.S264S|RALGPS1_ENST00000373436.1_Silent_p.S264S|RALGPS1_ENST00000424082.2_Silent_p.S264S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	264	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.S264S(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTGAAGTCCGTACGCTACA	0.527000													9	78					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363248	108363248	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:108363248C>T	ENST00000361582.3	+	14	1609	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	DZIP3_ENST00000463306.1_Missense_Mutation_p.P460L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	460					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGGAGTTACCGCAATCCAAA	0.418000													31	129					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105260577	105260577	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:105260577G>A	ENST00000306107.5	+	8	1459	c.959G>A	c.(958-960)aGc>aAc	p.S320N	ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000389927.4_Intron	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	320	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GACAAAAAAAGCATGATTGCT	0.428000													9	74					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													7	51					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38937375	38937375	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:38937375G>A	ENST00000355481.4	+	9	898	c.767G>A	c.(766-768)cGc>cAc	p.R256H	RYR1_ENST00000360985.3_Missense_Mutation_p.R256H|RYR1_ENST00000359596.3_Missense_Mutation_p.R256H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	256	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTCATGCCCGCTCCCTCTGG	0.602000													15	36					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34893859	34893859	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:34893859C>T	ENST00000592983.1	+	2	1489	c.909C>T	c.(907-909)cgC>cgT	p.R303R	PIGW_ENST00000328396.2_Silent_p.R303R|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	303					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCCAACCGCGAAGGAATAA	0.428000													19	60					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	101995439	101995439	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:101995439G>T	ENST00000354105.4	-	13	1543	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	486							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AAACTGCAAAGGAAAATTCTT	0.363000													5	23					1	1	1	1	0
TICAM1	148022	broad.mit.edu	37	19	4817623	4817623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:4817623G>A	ENST00000248244.5	-	2	996	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	256	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCCGATGGCGGCCAGCTCAT	0.677000													3	28					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930848	54930848	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:54930848C>T	ENST00000474759.1	+	26	2367	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	CACNA2D3_ENST00000288197.5_Silent_p.A773A|CACNA2D3_ENST00000490478.1_Silent_p.A679A|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.A773A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	773						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACCGAAGAGCCGCTGAGCAGA	0.532000													22	37					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343968	248343968	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:248343968C>T	ENST00000359682.2	+	1	681	c.681C>T	c.(679-681)caC>caT	p.H227H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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)			CTGTCATTCACATGGGATCTG	0.433000													9	167					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60773005	60773005	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:60773005C>T	ENST00000370823.3	+	4	468	c.450C>T	c.(448-450)ggC>ggT	p.G150G	MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		GGCGCAGTGGCGCCGTCCTCT	0.622000													12	35					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826531	23826531	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:23826531T>A	ENST00000354639.3	+	20	2870	c.2406T>A	c.(2404-2406)ccT>ccA	p.P802P	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000433467.2_Silent_p.P825P	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAACATGCCTTTAAATTCAG	0.363000													7	89					0	0	1	0	0
ZNF367	195828	broad.mit.edu	37	9	99150564	99150564	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:99150564C>T	ENST00000375256.4	-	5	1304	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	336					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GCTCTATGAGCGCGAGGGCTC	0.577000													4	36					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148602758	148602758	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:148602758C>G	ENST00000241416.7	+	1	673	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	13				L -> V (in Ref. 4; BAA06548).	activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCGTCTTTCTTATCTCCTG	0.647000													14	23					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33612961	33612961	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:33612961C>A	ENST00000291416.5	-	5	1478	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	415	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGACACCCACCTTGTCAAGCT	0.577000													12	50					3.07112e-06	3.19647e-06	1	1	0
ADAMTS6	11174	broad.mit.edu	37	5	64629882	64629882	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:64629882G>T	ENST00000536360.1	-	8	1917	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	368	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGTTCCACAGGGCTTATTTT	0.264000													10	26					1.58986e-06	1.66324e-06	1	1	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448000										Prostate(2;0.17)			35	68					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849235	72849235	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:72849235G>A	ENST00000344575.3	+	1	1127	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	300					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGCGCGCTCTACGT	0.632000													27	43					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39814776	39814776	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:39814776G>T	ENST00000216160.6	+	6	652	c.590G>T	c.(589-591)gGg>gTg	p.G197V	TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	197	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ACAGTGGATGGGTTGCAGGTG	0.527000													12	39					0.000151284	0.000154697	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129148510	129148510	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:129148510G>A	ENST00000540052.1	+	3	1806	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	BCORL1_ENST00000218147.7_Missense_Mutation_p.E588K|BCORL1_ENST00000303743.5_Missense_Mutation_p.E588K|BCORL1_ENST00000359304.2_Missense_Mutation_p.E588K	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	588	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTGGCACCGAGCAGCAAAC	0.612000													35	11					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117072950	117072950	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:117072950A>G	ENST00000356083.3	+	61	5949	c.5558A>G	c.(5557-5559)gAa>gGa	p.E1853G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1853	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TACCGCCTGGAAGTTGGACCT	0.607000													11	29					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93572757	93572757	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:93572757G>A	ENST00000371627.4	+	2	596	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	73					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCGGAAAGACGTAGTTGAATA	0.383000													8	72					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30950099	30950099	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:30950099A>G	ENST00000383096.3	-	6	445	c.263T>C	c.(262-264)gTa>gCa	p.V88A	CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A					coiled-coil domain containing 178																		AATATTTACTACGGCACAGCT	0.378000													14	38					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13644861	13644861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:13644861C>T	ENST00000011619.3	-	6	1086	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	p.R343L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTCCACTCCCGCATATAGTC	0.433000													23	61					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163317627	163317627	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:163317627C>T	ENST00000271452.3	+	12	1302	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NUF2_ENST00000524800.1_Silent_p.F294F|NUF2_ENST00000367900.3_Silent_p.F341F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	341	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAATTCGTTCAAAAGACTGA	0.338000													4	34					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20939447	20939447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:20939447C>T	ENST00000263205.7	+	16	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.P564L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	675					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGAGCATCCCCAGTGTGCTC	0.642000													19	27					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013981	74013981	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:74013981A>C	ENST00000301607.3	-	14	1802	c.1549T>G	c.(1549-1551)Tca>Gca	p.S517A	EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	517	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCAGGTCTGAGCCAGATGGA	0.657000													10	19					0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109838900	109838900	+	Missense_Mutation	SNP	C	C	T	rs142341673		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:109838900C>T	ENST00000357155.1	-	6	872	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	275	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTATTATAGCCGGTGACTGTA	0.592000													8	40					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427900	134427900	+	Missense_Mutation	SNP	C	C	T	rs148068840		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:134427900C>T	ENST00000370766.3	-	3	2876	c.167G>A	c.(166-168)cGt>cAt	p.R56H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.R56H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	56	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCATGATAACGGAAGCTCCA	0.478000													4	54					0	0	1	0	0
AC010547.9	0	broad.mit.edu	37	16	71516014	71516014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:71516014C>T	ENST00000561908.1	-	3	506	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000288177.5_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron																							GGCATGGCTGCCATGACCTGG	0.493000													10	11					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43147834	43147834	+	RNA	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:43147834C>G	ENST00000522175.2	+	0	209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCAAGCTCCACAGAGCTG	0.582000													17	40					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113069447	113069447	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:113069447G>A	ENST00000409871.1	+	5	1081	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	227							nucleic acid binding|zinc ion binding	p.R227Q(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAATCAAACGAAAAGAACGT	0.368000													9	21					0	0	1	0	0
IL2RB	0	broad.mit.edu	37	22	37524301	37524301	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:37524301C>T	ENST00000216223.5	-	10	1689	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	497					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTCCTCCCCAGCCTCTC	0.692000													6	15					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100607859	100607859	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:100607859C>T	ENST00000319509.7	+	5	2006	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCCAGAACGCCAGCCAGGAT	0.662000													9	21					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458599	16458599	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:16458599C>T	ENST00000358432.5	-	13	2439	c.2285G>A	c.(2284-2286)cGc>cAc	p.R762H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	762	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCCAGCACGCGGGACAGGCC	0.607000													11	67					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726086	91726086	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:91726086C>T	ENST00000359028.2	+	41	10050	c.9825C>T	c.(9823-9825)aaC>aaT	p.N3275N	AKAP9_ENST00000358100.2_Silent_p.N3221N|AKAP9_ENST00000356239.3_Silent_p.N3271N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3275					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACTACTGAACGAATCCCAGC	0.383000			T	BRAF	papillary thyroid								6	69					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128424	152128424	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:152128424G>A	ENST00000316073.3	-	3	1215	c.1151C>T	c.(1150-1152)aCa>aTa	p.T384I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	384	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGATCTTGTGTGTCTGGCTG	0.473000													27	676					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231057237	231057237	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:231057237T>C	ENST00000366661.4	-	16	1835	c.1828A>G	c.(1828-1830)Aac>Gac	p.N610D	TTC13_ENST00000366662.4_Missense_Mutation_p.N557D|TTC13_ENST00000414259.1_Missense_Mutation_p.N557D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	610							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TATCTCATGTTGATCACCTGA	0.259000													6	47					0	0	1	0	0
SURF6	6838	broad.mit.edu	37	9	136199101	136199101	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:136199101C>T	ENST00000372022.4	-	5	955	c.690G>A	c.(688-690)ccG>ccA	p.P230P	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	230						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCCGGTCAGCGGCGTGAGGT	0.672000													11	39					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176859091	176859091	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:176859091G>A	ENST00000355472.5	+	3	412	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	GRK6_ENST00000507633.1_Missense_Mutation_p.A82T|GRK6_ENST00000528793.1_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T|GRK6_ENST00000355958.5_Missense_Mutation_p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	82	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCGTCGCCTTCCTGGA	0.687000													23	42					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406194	144406194	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:144406194G>T	ENST00000523676.1	-	8	1046	c.641C>A	c.(640-642)gCg>gAg	p.A214E	TOP1MT_ENST00000329245.4_Missense_Mutation_p.A312E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A214E			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	312					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CAGGGCCACCGCCCGCTGTCT	0.582000													21	46					1.00905e-13	1.0834e-13	1	1	0
DAGLA	747	broad.mit.edu	37	11	61495643	61495643	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:61495643G>A	ENST00000257215.5	+	7	771	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	219					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCAGAAATCGCCTACCTCTT	0.617000													5	77					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77935578	77935578	+	Missense_Mutation	SNP	G	G	A	rs141659647		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:77935578G>A	ENST00000216479.3	+	9	1163	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	335					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGCTATGGCGCACGCTTATT	0.587000													26	69					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129899559	129899559	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:129899559G>A	ENST00000368654.3	-	14	10043	c.9668C>T	c.(9667-9669)aCg>aTg	p.T3223M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2863M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3223					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GACACTCCGCGTTACTCTCTG	0.433000													7	74					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36363411	36363411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:36363411G>A	ENST00000221891.4	+	7	1069	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	APLP1_ENST00000586861.1_Missense_Mutation_p.G287S|APLP1_ENST00000537454.2_Missense_Mutation_p.G254S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	293					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCACAGACGGTGTGGATAT	0.567000													26	87					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96081787	96081787	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:96081787G>A	ENST00000260766.3	+	30	7106	c.6472G>A	c.(6472-6474)Gtc>Atc	p.V2158I	PLCE1_ENST00000371375.1_Missense_Mutation_p.V1850I|PLCE1_ENST00000371385.3_Missense_Mutation_p.V1850I|PLCE1_ENST00000371380.2_Missense_Mutation_p.V2158I|NOC3L_ENST00000543788.1_Intron	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2158	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCACCCCGCGTCAGCACTGC	0.478000													14	23					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359674	16359674	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:16359674C>A	ENST00000354981.2	-	19	3130	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	991	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAAAATCTCCTTTTCCTTTT	0.547000													31	78					1.75199e-13	1.87614e-13	1	1	0
PLAA	9373	broad.mit.edu	37	9	26925851	26925851	+	Missense_Mutation	SNP	C	C	T	rs138585651	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:26925851C>T	ENST00000397292.3	-	6	1258	c.841G>A	c.(841-843)Gac>Aac	p.D281N	PLAA_ENST00000520884.1_Missense_Mutation_p.D281N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	281					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCACCATTGTCGAGCACACAG	0.433000													19	77					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608948	33608948	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:33608948G>A	ENST00000170564.2	+	16	2727		c.e16+1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1							catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTGGCTCACGGTATGTCAGTA	0.478000													7	20					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002368	3002368	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:3002368G>A	ENST00000381127.1	+	6	712	c.491G>A	c.(490-492)gGc>gAc	p.G164D	ARSF_ENST00000359361.2_Missense_Mutation_p.G164D|ARSF_ENST00000537104.1_Missense_Mutation_p.G164D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	164						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACTACTATGGCATGCCGTTC	0.517000													4	35					0	0	1	0	0
EIF2B1	1967	broad.mit.edu	37	12	124106408	124106408	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:124106408C>T	ENST00000424014.2	-	9	1021	c.813G>A	c.(811-813)ccG>ccA	p.P271P	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	271					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTCGACCCACGGATGCTCCT	0.512000													4	22					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367308	105367308	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:105367308C>T	ENST00000297581.2	+	3	1282	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	411					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.S411R(1)									TCTACCCCAGCGTGGAGAGGA	0.438000													27	44					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1445045	1445045	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000353088.2_Silent_p.D44D|NSFL1C_ENST00000476071.1_Silent_p.D44D|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522000													28	73					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57985397	57985397	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:57985397C>T	ENST00000343280.4	-	5	975	c.715G>A	c.(715-717)Gag>Aag	p.E239K	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.E127K|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.E198K	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GCATGGTGCTCGAAAATGCTT	0.498000													4	47					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722826	145722826	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:145722826C>T	ENST00000292539.4	+	2	1166	c.249C>T	c.(247-249)gaC>gaT	p.D83D	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	83						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGAAATGACCTGGAAGAAG	0.662000													5	22					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796901	127796901	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:127796901G>A	ENST00000556132.1	-	6	3134	c.2270C>T	c.(2269-2271)gCg>gTg	p.A757V	SOGA3_ENST00000525778.1_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	757						integral to membrane											CTTCTTGCCCGCGTCGCTCTC	0.697000													7	40					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66600560	66600560	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:66600560C>T	ENST00000379500.2	+	1	211	c.144C>T	c.(142-144)acC>acT	p.T48T	CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000528324.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000535705.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	0	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CAGCGAAGACCGCACCCCGGA	0.632000													5	55					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703836	48703836	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:48703836C>T	ENST00000352832.5	+	34	6849	c.6477C>T	c.(6475-6477)gaC>gaT	p.D2159D	CACNA1G_ENST00000359106.5_Silent_p.D2286D|CACNA1G_ENST00000354983.4_Silent_p.D2252D|CACNA1G_ENST00000505165.1_Silent_p.D2114D|CACNA1G_ENST00000360761.4_Silent_p.D2170D|CACNA1G_ENST00000515411.1_Silent_p.D2223D|CACNA1G_ENST00000515165.1_Silent_p.D2193D|CACNA1G_ENST00000514181.1_Silent_p.D2168D|CACNA1G_ENST00000502264.1_Silent_p.D2215D|CACNA1G_ENST00000514717.1_Silent_p.D2136D|CACNA1G_ENST00000514079.1_Silent_p.D2200D|CACNA1G_ENST00000358244.5_Silent_p.D2080D|CACNA1G_ENST00000507336.1_Silent_p.D2275D|CACNA1G_ENST00000503485.1_Silent_p.D2159D|CACNA1G_ENST00000513964.1_Silent_p.D2148D|CACNA1G_ENST00000513689.2_Silent_p.D2196D|CACNA1G_ENST00000510366.1_Silent_p.D2141D|CACNA1G_ENST00000512389.1_Silent_p.D2182D|CACNA1G_ENST00000510115.1_Silent_p.D2207D|CACNA1G_ENST00000442258.2_Silent_p.D2152D|CACNA1G_ENST00000515765.1_Silent_p.D2230D|CACNA1G_ENST00000507896.1_Silent_p.D2103D|CACNA1G_ENST00000429973.2_Silent_p.D2175D|CACNA1G_ENST00000507510.2_Silent_p.D2241D|CACNA1G_ENST00000507609.1_Silent_p.D2186D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2286					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCACAGACCCCTCTAACC	0.657000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66413286	66413286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:66413286G>A	ENST00000341529.3	+	2	194	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	16					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGCCTGCCTGGGCCTGCTGGC	0.627000													23	59					0	0	1	0	0
IGLC2	0	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													5	43					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815747	56815747	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:56815747G>A	ENST00000229201.4	-	21	2729	c.2575C>T	c.(2575-2577)Cgc>Tgc	p.R859C	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R357C|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R860C	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	860					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCTGCTTGCGTGTTCGAGGA	0.542000													6	85					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107592541	107592541	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:107592541C>T	ENST00000393561.1	-	21	3463	c.3279G>A	c.(3277-3279)gcG>gcA	p.A1093A	LAMB1_ENST00000222399.6_Silent_p.A1069A			P07942	LAMB1_HUMAN	laminin, beta 1	1069	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTATTGGGCGCACAGCGGT	0.572000													3	11					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43285947	43285947	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:43285947G>A	ENST00000374518.4	+	5	687	c.624G>A	c.(622-624)acG>acA	p.T208T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	208					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCTGGACGGAAGTTTACC	0.413000													24	50					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30776081	30776081	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:30776081C>T	ENST00000382363.3	-	7	1052	c.978G>A	c.(976-978)gcG>gcA	p.A326A		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647000													5	72					0	0	1	0	0
FBXL22	283807	broad.mit.edu	37	15	63889730	63889730	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:63889730G>A	ENST00000360587.2	+	1	179	c.139G>A	c.(139-141)Gca>Aca	p.A47T	USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000558831.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.A41T|FBXL22_ENST00000534939.1_Missense_Mutation_p.A47T	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	41										lung(4)	4						TGAGGACCCCGCACTCTGGTC	0.622000													6	19					0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56705008	56705008	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:56705008G>T	ENST00000273308.4	-	4	935	c.395C>A	c.(394-396)aCc>aAc	p.T132N	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	132	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						AAACTTGAGGGTGCCGCTAAT	0.493000													51	90					1.00221e-16	1.08462e-16	1	1	0
POLG2	11232	broad.mit.edu	37	17	62492847	62492847	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:62492847A>G	ENST00000539111.2	-	1	307	c.240T>C	c.(238-240)agT>agC	p.S80S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	80					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTTGCTTCCACTTAGGAAAT	0.612000													22	62					0	0	1	0	0
RPUSD1	113000	broad.mit.edu	37	16	836359	836359	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:836359C>A	ENST00000561734.1	-	5	773	c.530G>T	c.(529-531)cGc>cTc	p.R177L	RPUSD1_ENST00000007264.2_Missense_Mutation_p.R177L|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Missense_Mutation_p.R48L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	177					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCAGTGCACGCGCAGCTGGTG	0.687000													6	55					0.0293803	0.0294525	1	1	0
EPB41L5	57669	broad.mit.edu	37	2	120776691	120776691	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:120776691C>T	ENST00000263713.5	+	2	245	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	11						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AACACTAGGGCGTCGGTCTAT	0.453000													10	124					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101183001	101183001	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:101183001C>T	ENST00000264254.6	+	2	421	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	15					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGACATCTTACGCAAAAAGGG	0.517000													8	58					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800604	84800604	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:84800604C>T	ENST00000389394.3	+	12	1954	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V|DNAH6_ENST00000237449.6_Missense_Mutation_p.A606V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	606	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACCATTCAGGCCGCATTTGAA	0.328000													8	54					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39301676	39301676	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:39301676G>A	ENST00000381897.1	-	21	2909	c.2776C>T	c.(2776-2778)Cgg>Tgg	p.R926W	RFC1_ENST00000349703.2_Missense_Mutation_p.R925W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	926					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCTTACTCCGGATCTGGCTG	0.493000													5	41					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50302915	50302915	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:50302915G>T	ENST00000354293.5	+	10	1330	c.1164G>T	c.(1162-1164)cgG>cgT	p.R388R	AP2A1_ENST00000359032.5_Silent_p.R388R	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	388					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCGGCAGCGGGCGGCTGACC	0.652000													5	56					0.014758	0.0148307	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12460321	12460321	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:12460321C>T	ENST00000358136.3	+	61	11848	c.11718C>T	c.(11716-11718)acC>acT	p.T3906T	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.T3881T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3905					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATCGAGACCGGCCCAGCTG	0.557000													10	31					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286065	130286065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:130286065A>T	ENST00000358511.6	+	4	1833	c.1802A>T	c.(1801-1803)gAc>gTc	p.D601V	COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	601	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCATTGAAAGACATAAGAAAC	0.418000													12	36					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56099037	56099037	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:56099037G>A	ENST00000426658.2	-	1	886	c.225C>T	c.(223-225)agC>agT	p.S75S	CTCFL_ENST00000422869.2_Silent_p.S75S|CTCFL_ENST00000423479.2_Silent_p.S75S|CTCFL_ENST00000422109.2_Silent_p.S75S|CTCFL_ENST00000371196.2_Silent_p.S75S|CTCFL_ENST00000433949.2_Silent_p.S75S|CTCFL_ENST00000243914.3_Silent_p.S75S|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Silent_p.S75S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000429804.2_Silent_p.S75S			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	75					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGTACTTCTCGCTCTCCTCCG	0.597000													52	88					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914607	46914607	+	Silent	SNP	C	C	T	rs34235823		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:46914607C>T	ENST00000307522.3	-	1	2234	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	487						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCAAAACCACGAAAAGCGTC	0.627000													4	52					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41555240	41555240	+	Missense_Mutation	SNP	C	C	T	rs142575732	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:41555240C>T	ENST00000373060.1	+	7	1320	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	FOXP4_ENST00000307972.4_Missense_Mutation_p.R288W|FOXP4_ENST00000373057.3_Missense_Mutation_p.R286W|FOXP4_ENST00000409208.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R287W	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	288					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCTCACATCTCGGAGAGACAG	0.672000											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	51					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56532267	56532267	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:56532267G>A	ENST00000394048.5	+	22	2681	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TATATGGAGCGGGCAGAGGAC	0.587000													4	21					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7788025	7788025	+	Missense_Mutation	SNP	G	G	A	rs115544900	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:7788025G>A	ENST00000420658.1	-	12	1698	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	AFAP1_ENST00000360265.4_Missense_Mutation_p.R476C|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.R476C|AFAP1_ENST00000382543.3_Missense_Mutation_p.R476C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	476						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GATATAACACGCCTGTTCATG	0.468000													6	95					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	109998845	109998845	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:109998845C>T	ENST00000545712.2	-	7	977	c.584_splice	c.e7+1	p.R195_splice	MMAB_ENST00000540016.1_Splice_Site_p.R143_splice|MMAB_ENST00000266839.5_Splice_Site_p.R104_splice	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	195					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCCTCTTACCGTCTCTCGGC	0.657000													6	21					0	0	1	0	0
RAB9A	9367	broad.mit.edu	37	X	13727114	13727114	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:13727114C>T	ENST00000464506.1	+	3	528	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	83					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGACTGCTGCCTGCTTACTT	0.438000													15	80					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9804388	9804388	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:9804388G>A	ENST00000226193.5	-	2	851	c.411C>T	c.(409-411)gaC>gaT	p.D137D	RCVRN_ENST00000570909.2_Silent_p.D6D	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	137					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGAGCTTCACGTCCTCGGGAG	0.453000													12	24					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6294999	6294999	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:6294999G>A	ENST00000343813.5	-	2	259	c.231C>T	c.(229-231)ttC>ttT	p.F77F	ICMT_ENST00000362035.3_Silent_p.F77F	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	77					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TGCCGCAGCCGAACACAAACC	0.507000													19	42					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169157	90169157	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:90169157G>C	ENST00000333209.3	-	2	2623	c.2105C>G	c.(2104-2106)gCa>gGa	p.A702G		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	702										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGGACTCTGCGTCCAAGGA	0.502000													6	35					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186280171	186280171	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:186280171T>C	ENST00000445192.2	+	9	3550	c.3505T>C	c.(3505-3507)Tat>Cat	p.Y1169H	PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1169	Hemopexin-like 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTAGGTCATTATTTCTGGAT	0.368000													15	40					0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123699209	123699209	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:123699209G>A	ENST00000479867.1	-	2	368	c.120C>T	c.(118-120)taC>taT	p.Y40Y	ROPN1_ENST00000405845.3_Intron|ROPN1_ENST00000184183.4_Intron|ROPN1_ENST00000459660.1_Silent_p.Y40Y|ROPN1_ENST00000484329.1_Silent_p.Y40Y|ROPN1_ENST00000495093.1_Silent_p.Y40Y			Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	40	RIIa.				signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		AAAGGAGCACGTACTCGGCTG	0.607000													22	38					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390533	208390533	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:208390533G>A	ENST00000367033.3	-	2	1492	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	245	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TAGCAAAGCCGTAGATGTAGA	0.537000													39	124					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20160892	20160892	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:20160892C>T	ENST00000395530.2	+	9	2774	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	SPECC1_ENST00000261503.5_Missense_Mutation_p.R937W|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.R937W|SPECC1_ENST00000536879.1_Missense_Mutation_p.R277W	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	937						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGCTTCCACCCGGGCATGGAA	0.502000													16	23					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756471	94756471	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:94756471G>A	ENST00000554723.1	-	2	998	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154C|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154C|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R154C			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	154					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGGTTGCGGGAGAGGGTC	0.517000													15	54					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49714069	49714069	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:49714069A>G	ENST00000252826.5	+	22	3557	c.3431A>G	c.(3430-3432)gAc>gGc	p.D1144G	TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G|TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1144	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGGAGAGCGACTCCGAGCGT	0.612000													3	14					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	247					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGTCCGGGTGCAGCGTCCAG	0.667000													12	19					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2565181	2565181	+	Missense_Mutation	SNP	C	C	T	rs143479850	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:2565181C>T	ENST00000222725.5	+	4	735	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	LFNG_ENST00000402506.1_Missense_Mutation_p.R168W|LFNG_ENST00000402045.1_Missense_Mutation_p.R110W|LFNG_ENST00000338732.3_Missense_Mutation_p.R110W|LFNG_ENST00000359574.3_Missense_Mutation_p.R239W	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	239					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGCCATGGAGCGGGTCAGCGA	0.716000													4	10					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1083970	1083970	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:1083970C>T	ENST00000264930.5	-	8	1062	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	340					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGAAGAGGCCCCAGAGCGC	0.652000													11	23					0	0	1	0	0
CNR1	0	broad.mit.edu	37	6	88853864	88853864	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:88853864G>A	ENST00000537554.1	-	2	4692	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	CNR1_ENST00000369499.2_Missense_Mutation_p.T377M|CNR1_ENST00000549716.1_Missense_Mutation_p.T316M|CNR1_ENST00000428600.2_Missense_Mutation_p.T377M|CNR1_ENST00000535130.1_Missense_Mutation_p.T377M|CNR1_ENST00000549890.1_Missense_Mutation_p.T377M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.T377M|CNR1_ENST00000468898.1_Missense_Mutation_p.T344M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	377					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.T377M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAACACCGTCTTAATGAG	0.522000													7	52					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150469374	150469374	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:150469374C>T	ENST00000369064.3	+	9	1044	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	337					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.A337V(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GCACTAGTGGCGTTTATCAGG	0.527000													5	32					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:183667646C>T	ENST00000334444.6	-	22	3362	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1041	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTGTCCAGACGCTTCAGCTC	0.562000													6	74					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45559536	45559536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:45559536G>T	ENST00000415258.1	+	17	2327	c.2186G>T	c.(2185-2187)tGg>tTg	p.W729L	LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	729					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGGAAGCTCTGGGAGTACAAG	0.517000													7	22					0.00198382	0.00200346	1	1	0
TPST1	8460	broad.mit.edu	37	7	65705780	65705780	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:65705780G>A	ENST00000304842.5	+	2	793	c.368G>A	c.(367-369)cGc>cAc	p.R123H	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	123					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGAAGATCCGCCTGGATGAG	0.507000													4	56					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416462	30416462	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:30416462C>A	ENST00000333027.3	+	17	3142	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	MTMR3_ENST00000323630.5_Silent_p.A802A|MTMR3_ENST00000351488.3_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.A938A|MTMR3_ENST00000401950.2_Silent_p.A938A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	938					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAAACAGGGCCTCAGAGCAGC	0.587000													20	47					1.56452e-12	1.67101e-12	1	1	0
TTN	7273	broad.mit.edu	37	2	179440959	179440959	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:179440959C>T	ENST00000589042.1	-	326	70124	c.69900G>A	c.(69898-69900)caG>caA	p.Q23300Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21659	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGAACTGAGTGATTC	0.468000													5	32					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35770248	35770248	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:35770248G>A	ENST00000540320.1	+	31	5709	c.5175G>A	c.(5173-5175)acG>acA	p.T1725T	NBEA_ENST00000379939.2_Silent_p.T1722T|NBEA_ENST00000400445.3_Silent_p.T1725T|NBEA_ENST00000310336.4_Silent_p.T1725T			Q8NFP9	NBEA_HUMAN	neurobeachin	1725						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGTGAAACGTTGAAGCCTG	0.413000													17	45					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773158	113773158	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:113773158C>T	ENST00000375581.3	+	9	1272	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	F7_ENST00000541084.1_Missense_Mutation_p.R344W|F7_ENST00000346342.3_Missense_Mutation_p.R391W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	413	Peptidase S1.		R -> G (in FA7D).|R -> Q (may be associated with decreased susceptibility to myocardial infarction; dbSNP:rs6046).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CACCCACTACCGGGGCACGTG	0.627000													3	17					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383898	12383898	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:12383898C>T	ENST00000356109.5	-	5	1434	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTATGAGGGCCATCTCCAGT	0.428000													31	68					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195143	3195143	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:3195143C>T	ENST00000323404.1	-	1	733	c.734G>A	c.(733-735)gGc>gAc	p.G245D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGGTGGGAGCCACATGTGGA	0.493000													23	53					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485718	31485718	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:31485718C>T	ENST00000394863.3	+	6	591	c.461C>T	c.(460-462)gCc>gTc	p.A154V	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	154	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCCACCTCAGCCACTCTGGAG	0.577000													4	58					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7645694	7645694	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:7645694T>C	ENST00000340080.4	+	12	2944	c.2523T>C	c.(2521-2523)agT>agC	p.S841S	MIOS_ENST00000405785.1_Silent_p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	841										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATATGCTTAGTTGGTTCAGGT	0.388000													47	89					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70679687	70679687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:70679687G>A	ENST00000373585.3	+	8	1296	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	397	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TATTTTCTGTGAGACCAAGAA	0.413000													16	71					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391477	61391477	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:61391477G>A	ENST00000370501.3	+	4	1486	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	372						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.R372L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAACTTCCGCCACATCTTC	0.587000													6	113					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035644	37035644	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:37035644G>A	ENST00000379242.3	+	15	1721	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	VIT_ENST00000379241.3_Silent_p.S436S|VIT_ENST00000404084.1_Silent_p.S410S|VIT_ENST00000389975.3_Silent_p.S458S|VIT_ENST00000401530.1_Silent_p.S437S|VIT_ENST00000497382.1_Silent_p.S127S	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	458	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCTTCTACTCGCTCCACGTGC	0.597000													11	15					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3122887	3122887	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:3122887G>A	ENST00000263650.7	-	13	1627	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OSBPL5_ENST00000348039.5_Missense_Mutation_p.R422W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R121W|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R422W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R401W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	490					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCGTCCTTCCGGTTGCTGACG	0.632000													10	22					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30804860	30804860	+	Missense_Mutation	SNP	C	C	T	rs112779048	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:30804860C>T	ENST00000383096.3	-	17	1879	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178																		AAGCTCTTTCCGCTCAAGTGC	0.358000													18	21					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152053535	152053535	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:152053535C>T	ENST00000409598.4	-	17	3017	c.1849_splice	c.e17-1	p.S617_splice	SH3D19_ENST00000455740.1_Splice_Site_p.S617_splice|SH3D19_ENST00000424281.1_Splice_Site_p.S581_splice|SH3D19_ENST00000427414.2_Splice_Site_p.S581_splice|SH3D19_ENST00000304527.4_Splice_Site_p.S640_splice|SH3D19_ENST00000409252.2_Splice_Site_p.S640_splice|SH3D19_ENST00000514152.1_Splice_Site_p.S617_splice			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	640	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TACCTTTGTGCCTACATTAAA	0.408000													3	25					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136605708	136605708	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:136605708G>T	ENST00000264156.2	-	14	2028	c.1968C>A	c.(1966-1968)atC>atA	p.I656I	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	656					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CCACACGGATGATTGATTTAT	0.393000													5	25					0.000602214	0.000612727	1	1	0
SEMA3B	7869	broad.mit.edu	37	3	50312859	50312859	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:50312859G>A	ENST00000418948.1	+	0	1852							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACGGGGTCGCGTGCACGCG	0.716000													5	12					0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686671	151686671	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:151686671G>A	ENST00000325144.4	-	3	1670	c.1530C>T	c.(1528-1530)acC>acT	p.T510T		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTAGTAAGACGGTTTCTTGTT	0.448000													25	60					0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780917	128780917	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:128780917G>A	ENST00000307395.4	+	3	557	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	112	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGCAGGTCCGCTGTGCCAGC	0.706000													3	13					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445333	49445333	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:49445333C>T	ENST00000301067.7	-	10	2132	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCGAGTCCTCCGGTGGTGGGG	0.677000													22	50					0	0	1	0	0
PCDHGA2	0	broad.mit.edu	37	5	140719302	140719302	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:140719302C>T	ENST00000394576.2	+	1	764	c.764C>T	c.(763-765)aCg>aTg	p.T255M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGAGAATACGCTCGTGGGC	0.547000													13	91					0	0	1	0	0
INHA	3623	broad.mit.edu	37	2	220439863	220439863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:220439863G>A	ENST00000243786.2	+	2	896	c.716G>A	c.(715-717)tGg>tAg	p.W239*		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	239					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGATGTCCTGGCCTTGGTCT	0.657000													18	45					0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1961548	1961548	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:1961548G>A	ENST00000399849.2	+	2	1724	c.1564G>A	c.(1564-1566)Ggg>Agg	p.G522R	HIC1_ENST00000322941.3_Missense_Mutation_p.G541R	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	541					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CACCATCTGCGGGAAGAAGTT	0.682000													6	13					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57876617	57876617	+	Silent	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:57876617A>C	ENST00000381227.1	+	12	1908	c.1495A>C	c.(1495-1497)Aga>Cga	p.R499R	POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000441246.2_Silent_p.R492R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	499					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGCAAAACCAAGACAGTTGCA	0.428000													32	58					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505706	11505706	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:11505706C>T	ENST00000379237.1	-	15	1615	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	USP6NL_ENST00000277575.5_Silent_p.A424A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	407						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGTGGGGCGCCCCGCTCT	0.692000													7	25					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25672097	25672097	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:25672097A>G	ENST00000281589.3	+	1	1798	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	587	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATAATTCAGAACTTCTTTATA	0.448000													6	109					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169340497	169340497	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:169340497G>A	ENST00000511577.1	-	19	2813	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	DDX60L_ENST00000505890.1_Missense_Mutation_p.R856C|DDX60L_ENST00000260184.7_Missense_Mutation_p.R856C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	856	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATTTTTGGCGATGAGGAGCA	0.363000													5	2					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51748529	51748529	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:51748529C>T	ENST00000374056.4	+	1	452	c.54C>T	c.(52-54)gaC>gaT	p.D18D	AGAP6_ENST00000412531.3_Silent_p.D18D			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	18					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TCGAGTTTGACCAGCAGCAGG	0.607000													15	17					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49132872	49132872	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:49132872G>A	ENST00000443164.1	+	5	2698	c.1993G>A	c.(1993-1995)Gcc>Acc	p.A665T	SPHK2_ENST00000245222.4_Missense_Mutation_p.A603T|SPHK2_ENST00000599748.1_Missense_Mutation_p.A567T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A565T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A544T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A603T|SPHK2_ENST00000599029.1_Missense_Mutation_p.A567T			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	603					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGGGCTACGCCGCGGCCCG	0.682000													3	7					0	0	1	0	0
LIMD2	80774	broad.mit.edu	37	17	61776417	61776417	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:61776417C>T	ENST00000259006.3	-	3	213	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	LIMD2_ENST00000578993.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578402.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578061.1_Missense_Mutation_p.G19S|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding			kidney(1)|lung(2)	3						CTGCTGCCGCCGCCTTTGGCG	0.736000													3	16					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151673127	151673127	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:151673127G>A	ENST00000402676.2	+	4	3841	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	AKAP12_ENST00000354675.6_Missense_Mutation_p.A1103T|AKAP12_ENST00000253332.1_Missense_Mutation_p.A1201T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A1096T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1201					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAATGAGGTCGCATCTGGTAC	0.532000													5	75					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24642164	24642164	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:24642164C>T	ENST00000311457.3	+	4	781	c.182C>T	c.(181-183)cCg>cTg	p.P61L	REC8_ENST00000559919.1_Missense_Mutation_p.P61L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	61					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGGCCTGCCGCGGCCCCGC	0.602000													28	48					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33625513	33625513	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:33625513G>A	ENST00000291416.5	-	3	770	c.537C>T	c.(535-537)ggC>ggT	p.G179G	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Silent_p.G58G	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	179						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGAAGGCCTCGCCGATAGTGG	0.657000													5	28					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27832572	27832572	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:27832572A>G	ENST00000318304.8	+	19	2067	c.1784_splice	c.e19+1	p.K595_splice	PPFIBP1_ENST00000542629.1_Splice_Site_p.K564_splice|PPFIBP1_ENST00000228425.6_Splice_Site_p.K589_splice|PPFIBP1_ENST00000537927.1_Splice_Site_p.K442_splice	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	595					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCTTTGGAAAGTAAGTAAAG	0.438000													9	68					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATGACCGTTATGCTATT	0.368000										HNSCC(38;0.096)			6	82					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501639	136501639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:136501639A>G	ENST00000393056.2	+	1	158	c.146A>G	c.(145-147)tAt>tGt	p.Y49C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	49					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCCCTCCCCTATCACATCCCC	0.642000													4	29					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41744449	41744449	+	Missense_Mutation	SNP	C	C	T	rs143593613		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:41744449C>T	ENST00000301178.4	+	8	1259	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	AXL_ENST00000359092.3_Missense_Mutation_p.R357W|AXL_ENST00000593513.1_Missense_Mutation_p.R89W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	357	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGAGCCCCGGGCGCCCCT	0.647000													14	14					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480515	206480515	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:206480515A>G	ENST00000406610.2	+	23	3803	c.3596A>G	c.(3595-3597)aAc>aGc	p.N1199S	PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S|PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1199					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGCAGAAGAACCCCATGACT	0.582000													10	41					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14517970	14517970	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:14517970T>C	ENST00000242786.5	+	18	2385	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	769					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTGCTGACCTATGTGTTTAC	0.617000													9	86					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47677762	47677762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:47677762C>T	ENST00000393331.3	-	12	1573	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	368					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGCGTTTGCGTGGGGGTCC	0.542000										Prostate(2;0.17)			10	162					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106858224	106858224	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:106858224C>T	ENST00000379987.2	+	4	540	c.324C>T	c.(322-324)taC>taT	p.Y108Y	NPNT_ENST00000453617.2_Silent_p.Y125Y|NPNT_ENST00000427316.2_Silent_p.Y138Y|NPNT_ENST00000305572.8_Silent_p.Y108Y|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000506666.1_Silent_p.Y138Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	108	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAACACTTACGGCAGCTACA	0.448000													18	16					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131544898	131544898	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:131544898C>A	ENST00000401867.1	-	8	1404	c.836G>T	c.(835-837)aGg>aTg	p.R279M	P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	279						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTCCACAGGCCTCTCATAGAT	0.512000													7	127					0.00307968	0.00310249	1	1	0
THOC6	79228	broad.mit.edu	37	16	3076395	3076395	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:3076395C>A	ENST00000326266.8	+	6	688	c.392C>A	c.(391-393)gCt>gAt	p.A131D	THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	131					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAGATCAACGCTTTGCTGCTG	0.542000													20	23					1.15919e-05	1.20343e-05	1	1	0
APBA1	320	broad.mit.edu	37	9	72131916	72131916	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:72131916G>A	ENST00000265381.4	-	2	433	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	71					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CATTCCCCGCGCTCCTCTTCC	0.731000													4	10					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84438757	84438757	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:84438757G>A	ENST00000416219.2	+	3	323	c.234G>A	c.(232-234)tcG>tcA	p.S78S	ATP2C2_ENST00000262429.4_Silent_p.S78S			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	78					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGGGCTGTCGGAGTTCTCGG	0.567000													13	34					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117849133	117849133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:117849133G>A	ENST00000350763.4	-	3	1288	c.877C>T	c.(877-879)Cga>Tga	p.R293*	TNC_ENST00000423613.2_Nonsense_Mutation_p.R293*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R293*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R293*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R293*|TNC_ENST00000535648.1_Nonsense_Mutation_p.R293*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R293*|TNC_ENST00000537320.1_Nonsense_Mutation_p.R293*|TNC_ENST00000345230.3_Nonsense_Mutation_p.R293*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	293	EGF-like 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCACGCATCGTCCACGGTTG	0.562000													15	74					0	0	1	0	0
ATP5H	10476	broad.mit.edu	37	17	73035039	73035039	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:73035039A>G	ENST00000301587.4	-	6	521	c.474T>C	c.(472-474)atT>atC	p.I158I	ATP5H_ENST00000344546.4_Silent_p.I134I|KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	158					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					ATAAATTCTCAATTGGTTGGT	0.368000													17	42					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91712544	91712544	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:91712544G>T	ENST00000359028.2	+	34	8482	c.8257G>T	c.(8257-8259)Gca>Tca	p.A2753S	AKAP9_ENST00000358100.2_Missense_Mutation_p.A2753S|AKAP9_ENST00000356239.3_Missense_Mutation_p.A2741S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2753	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGATCACCTCGCAGAGGCAAA	0.368000			T	BRAF	papillary thyroid								11	43					3.86212e-05	3.95916e-05	1	1	0
CUX1	1523	broad.mit.edu	37	7	101921226	101921226	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:101921226C>T	ENST00000437600.4	+	18	1916	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	CUX1_ENST00000547394.2_Missense_Mutation_p.R508C|CUX1_ENST00000393824.3_Missense_Mutation_p.R485C|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.R524C|CUX1_ENST00000425244.2_Missense_Mutation_p.R478C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	335					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAGGAGAACCGCCTGGCCCA	0.642000													3	2					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146058591	146058591	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:146058591C>T	ENST00000454497.2	-	21	3278	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	OTUD4_ENST00000447906.2_Silent_p.Q1112Q|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1111							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATCAAGTGTGCTGTCCCCTAT	0.433000													14	138					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2226330	2226330	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:2226330C>T	ENST00000326181.6	+	20	2075	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	648					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGTGTCACCGCGCTGGCTGTG	0.642000													6	12					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17688792	17688792	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:17688792C>T	ENST00000252599.4	+	9	1280	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		CAGGTGGAGGCGCTGGGGATC	0.642000													23	36					0	0	1	0	0
PIPSL	0	broad.mit.edu	37	10	95721253	95721253	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:95721253G>A	ENST00000480546.1	-	0	44					NR_002319.2																						GGAGGCCGACGCCATCTTGGC	0.572000													6	90					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744219	70744219	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:70744219C>T	ENST00000260126.3	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.S230S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632000													15	24					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70031720	70031720	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:70031720G>A	ENST00000355303.5	+	25	2918	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	ANO1_ENST00000538023.1_Silent_p.P871P|ANO1_ENST00000531349.1_Silent_p.P580P|ANO1_ENST00000530676.1_Silent_p.P725P|ANO1_ENST00000398543.2_Silent_p.P725P|ANO1_ENST00000525494.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	871					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GAGAGCCGCCGTGGTCGGAAA	0.607000													11	34					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755694	242755694	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:242755694C>T	ENST00000391969.2	+	3	724	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	NEU4_ENST00000407683.1_Missense_Mutation_p.R5C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000404257.1_Missense_Mutation_p.R17C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	5						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGGGTCCCTCGTACCCCTTC	0.701000													4	33					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117516856	117516856	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:117516856C>A	ENST00000393203.2	+	7	2225	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	693	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTTAATGCTTCTGTGCATTCA	0.423000													32	61					5.91797e-21	6.43875e-21	1	1	0
PPHLN1	51535	broad.mit.edu	37	12	42778750	42778750	+	Missense_Mutation	SNP	C	C	T	rs144485658		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:42778750C>T	ENST00000432191.2	+	5	427	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126C|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181C|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Missense_Mutation_p.R174C|PPHLN1_ENST00000256678.8_Intron	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	174					keratinization	cytoplasm|nucleus		p.R174C(2)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGAGTCCGTGCGTCCTGGTGC	0.498000													12	30					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140481	78140481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:78140481T>C	ENST00000216489.3	-	6	859	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	282	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAGAGGCGGCTGAAACCCGAC	0.577000													11	22					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626076	48626076	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:48626076C>T	ENST00000328333.8	-	19	2693	c.2587_splice	c.e19+1	p.T862_splice	COL7A1_ENST00000454817.1_Splice_Site_p.T862_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	862	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			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)		TCTGCCTACGCGTAGTGACAA	0.587000													19	30					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19037719	19037719	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:19037719C>T	ENST00000354791.3	-	14	901	c.660G>A	c.(658-660)caG>caA	p.Q220Q	GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000379878.3_Silent_p.Q220Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000356606.4_Silent_p.Q222Q			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	236					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTACATACCACTGAAGCTTTT	0.398000													8	15					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56682861	56682861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:56682861C>T	ENST00000431842.2	-	6	1238	c.314G>A	c.(313-315)aGc>aAc	p.S105N	FAM208A_ENST00000493960.2_Missense_Mutation_p.S501N|FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	501										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AGTAACTATGCTTCTAGGTTC	0.308000													4	32					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42193022	42193022	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:42193022C>T	ENST00000220325.4	-	6	1530	c.1447G>A	c.(1447-1449)Gtc>Atc	p.V483I		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	483	EF-hand.|EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TTGCCCAGGACGCTGTTGGGC	0.567000													4	41					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93022190	93022190	+	Missense_Mutation	SNP	C	C	T	rs138055945		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:93022190C>T	ENST00000216487.7	+	2	298	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	47					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTTCCTCACCGCCGGGGCAT	0.587000													15	25					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090766	147090766	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:147090766G>A	ENST00000234739.3	+	8	1545	c.805G>A	c.(805-807)Gca>Aca	p.A269T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	269	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAAGCCTGCCGCACCCCCACG	0.607000			T	"""IGH@, IGL@"""	B-ALL								29	63					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433999	73433999	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:73433999C>T	ENST00000263666.4	-	10	1832	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R230Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R290Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R295Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R230Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	573							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGTCGGTCCGCCCCACACC	0.597000													12	19					0	0	1	0	0
PHF16	0	broad.mit.edu	37	X	46887491	46887491	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:46887491G>A	ENST00000218343.4	+	6	971	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		225					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TAAGTGTAACGTCTGTGTGCA	0.488000													21	4					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112579785	112579785	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:112579785G>A	ENST00000297145.4	-	1	186	c.21C>T	c.(19-21)ggC>ggT	p.G7G		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	7										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGTATTTCGGCCGCCGGCCC	0.726000													6	9					0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18005394	18005394	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:18005394C>T	ENST00000278780.6	-	4	956	c.714G>A	c.(712-714)ccG>ccA	p.P238P	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	238					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACGAGCTGCCCGGATGGGCAC	0.582000													11	24					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090466	32090466	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:32090466G>A	ENST00000438447.1	+	20	7300	c.6912G>A	c.(6910-6912)acG>acA	p.T2304T	PDZD2_ENST00000282493.3_Silent_p.T2304T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2304					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGACGAGCTGCCTAG	0.483000													6	94					0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036655	13036655	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:13036655G>A	ENST00000376187.1	+	2	727	c.727G>A	c.(727-729)Gat>Aat	p.D243N	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	243										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CTTCATCTCCGATGGCTGTCG	0.478000													5	88					0	0	1	0	0
AC129929.5	0	broad.mit.edu	37	11	2356903	2356903	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:2356903C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							GATCTTCCTGCGCACGTGTGA	0.562000													28	98					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90763060	90763060	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:90763060G>A	ENST00000411539.2	+	4	680	c.420G>A	c.(418-420)ccG>ccA	p.P140P	SEMA4B_ENST00000379122.3_Silent_p.P135P|SEMA4B_ENST00000332496.6_Silent_p.P140P	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCCTGCCGCTCAGCGGCA	0.622000											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	17					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70451231	70451231	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:70451231G>A	ENST00000373644.4	+	12	6280	c.6071G>A	c.(6070-6072)cGg>cAg	p.R2024Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2024					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.R2024Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGTGTGCCCGGCGAGAGCTG	0.522000													32	56					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951602	30951602	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:30951602A>G	ENST00000402321.1	-	3	927	c.610T>C	c.(610-612)Tac>Cac	p.Y204H	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	204					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTGGGGTCGTAGTAGCGATCC	0.627000													6	67					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156288708	156288708	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:156288708C>T	ENST00000295688.3	-	8	990	c.710G>A	c.(709-711)cGc>cAc	p.R237H	CCT3_ENST00000368259.2_Missense_Mutation_p.R199H|CCT3_ENST00000368261.3_Missense_Mutation_p.R192H|CCT3_ENST00000472765.2_Missense_Mutation_p.R192H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	237					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGCACAATGCGAGGGTTCTT	0.463000													16	34					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237390	29237390	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:29237390G>A	ENST00000382535.3	+	2	1274	c.905G>A	c.(904-906)cGc>cAc	p.R302H	FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H			P55316	FOXG1_HUMAN	forkhead box G1	302				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTCATGGACCGCGCCGGCTCC	0.701000													23	55					0	0	1	0	0
NAT6	24142	broad.mit.edu	37	3	50334626	50334626	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:50334626C>T	ENST00000443842.1	-	2	1076	c.269G>A	c.(268-270)cGc>cAc	p.R90H	HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R90H|NAT6_ENST00000354862.4_Missense_Mutation_p.R112H|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.R90H					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGTGCAGGCGGGAGGTGCG	0.647000													4	44					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174667	150174667	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:150174667T>G	ENST00000307271.3	+	5	2371	c.1797T>G	c.(1795-1797)tgT>tgG	p.C599W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	599						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGCGAGTTTGTGCTTTTAACA	0.473000													27	55					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310191	56310191	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:56310191C>T	ENST00000528616.2	-	1	566	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TAATGAGCGGCGGGTCAGCAC	0.498000													6	32					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504410	47504410	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:47504410T>C	ENST00000426342.1	-	8	1475	c.729A>G	c.(727-729)aaA>aaG	p.K243K	MDGA2_ENST00000439988.2_Silent_p.K472K|MDGA2_ENST00000399232.2_Silent_p.K541K|MDGA2_ENST00000357362.3_Silent_p.K243K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	472	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGATGATTGGTTTAGGTTTGC	0.418000													6	121					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	163	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTTGAACACGGGCGCGTAC	0.507000													10	40					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104474531	104474531	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:104474531G>C	ENST00000229330.4	+	5	794	c.690G>C	c.(688-690)atG>atC	p.M230I		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	230					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAGAAACTATGTCATGGTCAA	0.323000													15	17					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													4	40					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49012151	49012151	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:49012151G>T	ENST00000600059.1	-	5	741	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGCTCCAGGGGCCCCGCGCTG	0.597000													19	32					1.37522e-17	1.49226e-17	1	1	0
C15orf56	644809	broad.mit.edu	37	15	40544701	40544701	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:40544701C>T	ENST00000319503.3	-	2	292	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000453867.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000560346.1_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	91										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		ACTTCTCCCGCGCTCTGGGTT	0.662000													5	14					0	0	1	0	0
EVPLL	645027	broad.mit.edu	37	17	18286413	18286413	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:18286413G>A	ENST00000399134.4	+	7	944	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	196										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCAGCTGAGCGCCCTGGCGGA	0.726000													3	2					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904703	62904703	+	Missense_Mutation	SNP	G	G	A	rs139861996	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:62904703G>A	ENST00000308824.6	+	6	963	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PCMTD2_ENST00000266078.6_Missense_Mutation_p.R55Q|PCMTD2_ENST00000369758.3_Missense_Mutation_p.R252Q|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	279	Poly-Arg.					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGTTTAAACGAAGGAGAGTT	0.473000													22	69					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429592	135429592	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:135429592G>A	ENST00000394143.1	+	6	4018	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1243					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACACACACCAGTGTCCATCCA	0.458000													7	72					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48437450	48437450	+	Missense_Mutation	SNP	G	G	A	rs150470450		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:48437450G>A	ENST00000017003.2	+	11	2445	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	799					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GCTGCCCAGCGGCACACACAG	0.652000													5	11					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80016030	80016030	+	Silent	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:80016030T>G	ENST00000354321.7	-	13	1868	c.1383A>C	c.(1381-1383)ccA>ccC	p.P461P	DUS1L_ENST00000306796.5_Silent_p.P461P			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	461					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGAAGCCACCTGGTGTTCCAG	0.582000													12	39					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47706243	47706243	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:47706243G>A	ENST00000262982.2	+	19	2264	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CSE1L_ENST00000396192.3_Missense_Mutation_p.R658H|CSE1L_ENST00000542325.1_Missense_Mutation_p.R497H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	714					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCTTAGAACGCGGTTCAAAC	0.418000													16	43					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47884519	47884519	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:47884519C>T	ENST00000328771.4	+	16	3585	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1079						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCGCCCCTCACGCCCCTGGAG	0.672000													7	42					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149133690	149133690	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:149133690G>A	ENST00000247930.4	-	5	1638	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	439	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTGCACCAGCATCTGCTTC	0.657000													24	51					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17400870	17400870	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:17400870C>T	ENST00000470360.1	+	4	259	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000522656.1_Silent_p.L8L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000004531.10_Silent_p.L48L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	8					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGCCGCGCTGACCTTTGC	0.522000													14	13					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43248313	43248313	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:43248313G>A	ENST00000255226.6	+	15	2723		c.e15-1		SLC14A2_ENST00000586448.1_Splice_Site|SLC14A2_ENST00000589658.1_Splice_Site	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2							apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCCAGGTCGGCCATC	0.562000													13	21					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70934964	70934964	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:70934964C>T	ENST00000393567.2	-	53	9141	c.8991G>A	c.(8989-8991)ctG>ctA	p.L2997L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2997										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTACAGGTGCAGGCCGTACT	0.547000													18	88					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285052	28285052	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:28285052C>T	ENST00000373894.3	+	8	1262	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L309L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	357					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCTGGGAGCTCGAGTACCAGC	0.637000													9	34					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:31705656C>T	ENST00000396556.2	-	11	2287	c.2165G>A	c.(2164-2166)cGg>cAg	p.R722Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	722					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602000													6	66					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74467835	74467835	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:74467835G>A	ENST00000591885.1	-	19	2914	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000313080.4_Silent_p.A817A			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	817					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCACGAGGGCGGCGAAGAGGC	0.612000													3	8					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57499054	57499054	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:57499054C>T	ENST00000300134.3	-	9	1206	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	STAT6_ENST00000537215.2_Missense_Mutation_p.R184Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R184Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R294Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R294Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R294Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	294					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAACAGGAATCGAACTCCAGC	0.622000													10	33					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4705340	4705340	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:4705340G>A	ENST00000540757.2	+	5	468	c.308G>A	c.(307-309)cGc>cAc	p.R103H	DYRK4_ENST00000543431.1_Missense_Mutation_p.R103H|DYRK4_ENST00000010132.5_Missense_Mutation_p.R103H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	103						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATTGCCTACCGCTATGAAGTT	0.552000													13	99					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622000													22	28					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117129977	117129977	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:117129977C>A	ENST00000307564.4	-	6	1735	c.1573_splice	c.e6-1	p.G525_splice	AKNA_ENST00000374075.5_Splice_Site_p.G444_splice|AKNA_ENST00000312033.3_Splice_Site_p.G525_splice|AKNA_ENST00000374088.3_Splice_Site_p.G525_splice|AKNA_ENST00000223791.3_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGATGGCCACCCTGGAATACA	0.582000													18	17					8.28177e-16	8.91547e-16	1	1	0
GPC6	10082	broad.mit.edu	37	13	95034757	95034757	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:95034757G>A	ENST00000377047.4	+	7	1857	c.1242G>A	c.(1240-1242)gcG>gcA	p.A414A		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	414						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCGTGACAGCGGGCACGTCCA	0.532000													18	16					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6135163	6135163	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:6135163T>A	ENST00000261405.5	-	23	3271	c.3017A>T	c.(3016-3018)gAc>gTc	p.D1006V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1006	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGGTGAGGTCATTGTTCTG	0.527000													15	47					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86942145	86942145	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:86942145C>T	ENST00000234701.3	+	5	817	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	156					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGCATTTGTCCATGAGTGGGC	0.353000													9	28					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4202253	4202253	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:4202253C>T	ENST00000379453.4	-	2	1752	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	546				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TCGTGTGGGACGCCTAGGGAC	0.667000													3	23					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	91					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632000													7	115					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3427388	3427388	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:3427388T>C	ENST00000356575.4	-	10	1419	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	398	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTAGCCGGCGTAGCAGCCGCA	0.682000													4	28					0	0	1	0	0
PCID2	55795	broad.mit.edu	37	13	113849441	113849441	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:113849441T>C	ENST00000375457.2	-	6	899		c.e6-2		PCID2_ENST00000246505.5_Splice_Site|PCID2_ENST00000351317.3_Intron|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000337344.4_Splice_Site|PCID2_ENST00000375477.1_Splice_Site	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGCAGAGCCCTGCAGGGCAAA	0.453000													14	26					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46746931	46746931	+	Missense_Mutation	SNP	C	C	T	rs150782403		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:46746931C>T	ENST00000343304.6	-	5	1907	c.1622G>A	c.(1621-1623)cGt>cAt	p.R541H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	541										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACGATAGCACGTGTCAGCTC	0.637000													11	37					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:92789302C>T	ENST00000370343.3	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373000													26	84					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52960705	52960705	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:52960705C>T	ENST00000295213.4	+	12	1950	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494W	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCTCGAAGTCGGAGTCCTTC	0.348000													4	38					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82336338	82336338	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:82336338C>T	ENST00000329713.4	-	2	1308	c.873G>A	c.(871-873)tcG>tcA	p.S291S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	291					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CACTGCCAAGCGAGCTGGAGC	0.692000													13	41					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127223060	127223060	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:127223060C>T	ENST00000321407.2	-	2	1760	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCCTGGCCGCAACCTGCAGC	0.557000													20	64					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96955623	96955623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:96955623G>A	ENST00000323853.5	-	21	2931	c.2854C>T	c.(2854-2856)Cgc>Tgc	p.R952C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	952						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTAGTCGGCGCTGGTCCAGC	0.552000													5	73					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17305687	17305687	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:17305687C>T	ENST00000595618.1	+	22	3603	c.3451C>T	c.(3451-3453)Cgt>Tgt	p.R1151C	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1151C|MYO9B_ENST00000594824.1_Missense_Mutation_p.R1151C	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1151	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGTGAGTCGCGTCGGCAAAG	0.592000													19	35					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51639838	51639838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:51639838C>T	ENST00000375695.2	+	5	1408	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	363	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTGTCTGGCCCGGCCCTGT	0.617000										Multiple Myeloma(10;0.10)			9	11					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409688	105409688	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:105409688C>T	ENST00000333244.5	-	7	12219	c.12100G>A	c.(12100-12102)Gtg>Atg	p.V4034M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4034						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGTTTCACGTCCACTTGG	0.637000													12	184					0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50176534	50176534	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:50176534A>G	ENST00000359332.2	+	3	365	c.275A>G	c.(274-276)tAc>tGc	p.Y92C		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	92						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACAAAGGATACAGCAATCGA	0.358000													12	32					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1578608	1578608	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:1578608C>T	ENST00000397374.3	-	7	1145	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T	DUSP8_ENST00000331588.4_Missense_Mutation_p.A340T	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	340	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCTGTGGCAGCGCTCTCTGAG	0.796000													3	5					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30630690	30630690	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:30630690C>T	ENST00000376442.3	-	8	1621	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	476	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AATCTCACCTCATTCCCAAGC	0.587000													10	34					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179240	59179240	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:59179240G>A	ENST00000380516.2	-	19	2856	c.2769C>T	c.(2767-2769)agC>agT	p.S923S	SLTM_ENST00000536328.1_Silent_p.S492S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	923					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCCCGAAGCGCTGCTACGAT	0.562000													4	34					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95571440	95571440	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:95571440G>A	ENST00000556045.1	-	3	290	c.8C>T	c.(7-9)gCg>gTg	p.A3V	DICER1_ENST00000393063.1_Silent_p.G1079G|DICER1_ENST00000526495.1_Silent_p.G1079G|DICER1_ENST00000343455.3_Silent_p.G1079G|DICER1_ENST00000527414.1_Silent_p.G1079G|DICER1_ENST00000541352.1_Silent_p.G1079G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	0					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGACTCCCACGCCAGCATCGC	0.488000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				30	53					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145580838	145580838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:145580838C>T	ENST00000296575.3	+	4	1334	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HHIP_ENST00000434550.2_Missense_Mutation_p.R227W|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGTGGGCTGCGGCAGCCCGT	0.448000													12	132					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17030590	17030590	+	RNA	SNP	G	G	A	rs590170	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:17030590G>A	ENST00000492551.1	-	0	745					NR_026567.1																						CGGCTGCTTCGCCTCCAGCTC	0.617000													3	26					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62499360	62499360	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:62499360T>C	ENST00000283269.9	-	17	2814	c.2603A>G	c.(2602-2604)gAg>gGg	p.E868G	CADPS_ENST00000383710.4_Intron|CADPS_ENST00000357948.3_Intron	NM_183394.2	NP_899631.1	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	865	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACAGGATGCTCATACATTTC	0.433000													4	7					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70613199	70613199	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:70613199T>C	ENST00000449580.1	+	21	3148	c.3097T>C	c.(3097-3099)Tca>Cca	p.S1033P	TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1033					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCGCACAATGTCAACAGAACA	0.453000													28	6					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99885247	99885247	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:99885247T>C	ENST00000327681.6	-	17	2721	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	730					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAGACCGTAGAGAACTTT	0.363000													15	19					0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23876823	23876823	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:23876823G>A	ENST00000379226.4	-	6	647	c.416C>T	c.(415-417)cCg>cTg	p.P139L	APOO_ENST00000379220.3_Missense_Mutation_p.P120L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	139					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GAAACCAGGCGGATACACTAG	0.403000													13	4					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207548	81207548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:81207548G>T	ENST00000312465.7	+	3	755	c.529G>T	c.(529-531)Gca>Tca	p.A177S	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	177					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTATGCCTCAGCAATACATAG	0.453000													6	91					0.00198382	0.00200346	1	1	0
NPAT	4863	broad.mit.edu	37	11	108068119	108068119	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:108068119A>G	ENST00000278612.8	-	2	171	c.66T>C	c.(64-66)tcT>tcC	p.S22S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	22	Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.			S -> Y (in Ref. 6; AAB02735).	positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGGCAGGTAGAAATGAGGT	0.308000													12	65					0	0	1	0	0
S100P	6286	broad.mit.edu	37	4	6695686	6695686	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:6695686C>T	ENST00000296370.3	+	1	891	c.27C>T	c.(25-27)ggC>ggT	p.G9G	S100P_ENST00000513778.1_Intron	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	9					endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CAGCCATGGGCATGATCATAG	0.587000													15	32					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715064	165715064	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:165715064C>T	ENST00000543069.1	-	2	1016	c.435G>A	c.(433-435)ctG>ctA	p.L145L	C6orf118_ENST00000230301.8_Silent_p.L249L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	249										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCACCTGCTGCAGCTTTCTCT	0.607000													7	83					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65307998	65307998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:65307998T>C	ENST00000301873.5	-	22	3333	c.3065A>G	c.(3064-3066)aAg>aGg	p.K1022R	LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1022	EGF-like 10; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GAAGCCCTGCTTGCAGTAGCA	0.652000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	39					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47665033	47665033	+	Missense_Mutation	SNP	C	C	T	rs17183248	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr21:47665033C>T	ENST00000397708.1	-	24	4980	c.4726G>A	c.(4726-4728)Gtc>Atc	p.V1576I	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1576I|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1576			V -> I (in dbSNP:rs17183248).		DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.V1576I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCGTCTTCGACGTACTGAATG	0.542000													20	36					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102737391	102737391	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:102737391G>A	ENST00000210633.3	+	4	417	c.339G>A	c.(337-339)acG>acA	p.T113T	SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000370250.4_Silent_p.T113T|SEMA4G_ENST00000519756.1_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	113	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCCACAGACGGAGTGCTTTA	0.572000													29	56					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468861	241468861	+	Silent	SNP	G	G	A	rs147984796		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:241468861G>A	ENST00000391987.1	-	5	645	c.279C>T	c.(277-279)gaC>gaT	p.D93D	ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.D182D|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Silent_p.D93D			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	93							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ACAGCCCCACGTCCTGGCTGC	0.592000													5	36					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343381	118343381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:118343381C>T	ENST00000534358.1	+	3	1530	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W|KMT2A_ENST00000389506.5_Missense_Mutation_p.R503W	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCCTGAGGAGCGGAGCGATAC	0.502000													22	103					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:144940328C>T	ENST00000525985.1	-	2	7165	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H				P58107	EPIPL_HUMAN	epiplakin 1	2365						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692000													12	279					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13325397	13325397	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:13325397G>A	ENST00000360228.5	-	39	5756	c.5757C>T	c.(5755-5757)gaC>gaT	p.D1919D	CACNA1A_ENST00000573710.2_Silent_p.D1920D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1920					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAGCTCAGCGTCCATCTGCT	0.582000													9	14					0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119303006	119303006	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:119303006G>A	ENST00000553456.3	+	1	1052	c.228G>A	c.(226-228)tcG>tcA	p.S76S	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.S76S	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	76						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGGCGGTCTCGCACCCGCCCA	0.726000													3	12					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813806	248813806	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:248813806C>A	ENST00000344889.3	-	1	379	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGTTGCAGATGGCTAC	0.542000													14	117					9.16793e-09	9.69045e-09	1	1	0
CC2D1A	54862	broad.mit.edu	37	19	14020732	14020732	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:14020732G>A	ENST00000318003.7	+	2	398	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	CC2D1A_ENST00000589606.1_Missense_Mutation_p.G53R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	53					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTTTGGTCGGGGGCCAGCC	0.577000													11	30					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228475944	228475944	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:228475944C>T	ENST00000570156.2	+	42	11355	c.11281C>T	c.(11281-11283)Cgt>Tgt	p.R3761C	OBSCN_ENST00000366709.4_Missense_Mutation_p.R451C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3332C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R451C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3332C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2179C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2797	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATCCGTGGCCTGGC	0.607000													17	42					0	0	1	0	0
PCDHB1	0	broad.mit.edu	37	5	140431844	140431844	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:140431844G>A	ENST00000306549.3	+	1	866	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		263	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCCACGGTGACTGCCG	0.532000													6	30					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713152	142713152	+	RNA	SNP	T	T	G	rs142135372	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:142713152T>G	ENST00000369381.2	-	0	1453																											TGCTGTTCAATGCACGGATTT	0.368000													5	77					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622631	65622631	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:65622631C>A	ENST00000327987.4	-	11	2109	c.1858_splice	c.e11+1	p.A620_splice		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	620										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCCTCACCTGTCCTCTCA	0.567000													9	78					3.09899e-07	3.25035e-07	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70331617	70331617	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:70331617G>A	ENST00000338508.4	-	32	4783	c.4784C>T	c.(4783-4785)gCc>gTc	p.A1595V	SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1215					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAACCTTGGCCATCCCAGG	0.577000													4	55					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793341	17793341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:17793341C>T	ENST00000379472.3	+	2	730	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	234						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R234C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACGCAAGTGCGCTACTACCG	0.582000													23	83					0	0	1	0	0
NIM1	0	broad.mit.edu	37	5	43280399	43280399	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:43280399C>T	ENST00000512796.1	+	4	2378	c.879C>T	c.(877-879)caC>caT	p.H293H	NIM1_ENST00000326035.2_Silent_p.H293H			Q8IY84	NIM1_HUMAN		293	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TACCGCCGCACGTGTCAGAGC	0.532000													7	61					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38038579	38038579	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:38038579C>A	ENST00000283713.6	+	6	728	c.462C>A	c.(460-462)tcC>tcA	p.S154S	VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	154					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542000											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	71					2.0095e-06	2.09687e-06	1	1	0
C3orf70	285382	broad.mit.edu	37	3	184801249	184801249	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:184801249G>A	ENST00000335012.2	-	2	489	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	100										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TTCGGTGAGCGAGACTGAGAT	0.483000													7	83					0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110603475	110603475	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:110603475G>A	ENST00000369792.4	-	4	999	c.912C>T	c.(910-912)ccC>ccT	p.P304P	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	304						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGGTGGGGGGAAAGCCAT	0.617000													6	31					0	0	1	0	0
MNS1	55329	broad.mit.edu	37	15	56735681	56735681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:56735681G>A	ENST00000260453.3	-	7	1122	c.958C>T	c.(958-960)Cga>Tga	p.R320*	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	320	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AATTCTTGTCGCACTTGTTCC	0.294000													7	27					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166621492	166621492	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:166621492G>A	ENST00000392701.3	-	3	1365	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	197	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CGTGGACCACGCTTCATTATG	0.423000													17	26					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:39095333C>T	ENST00000295373.6	-	2	341	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.458000													7	57					0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9749627	9749627	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:9749627C>T	ENST00000318950.6	+	5	773	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	SWAP70_ENST00000447399.2_Missense_Mutation_p.R166W	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	224	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GGGCCACAGACGGAAAAACTG	0.348000													5	55					0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172195842	172195842	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:172195842C>T	ENST00000239223.3	-	4	1269	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	343	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GGGATGGAGACGGGGAAGTTG	0.642000													7	60					0	0	1	0	0
GPX4	2879	broad.mit.edu	37	19	1106407	1106407	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:1106407C>T	ENST00000589115.1	+	5	521	c.485C>T	c.(484-486)tCg>tTg	p.S162L	GPX4_ENST00000354171.8_Silent_p.I170I			P36969	GPX4_HUMAN	glutathione peroxidase 4	0					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|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)	Glutathione(DB00143)	AGTTCCTCATCGACAAGAACG	0.652000													10	36					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277260	135277260	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:135277260G>A	ENST00000334270.2	-	2	988	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	317					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTTTCACCATGCAGGCCCACA	0.493000													39	85					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435189	56435189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:56435189G>A	ENST00000584437.1	-	8	3903	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RNF43_ENST00000577625.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R609*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R609*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R650*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R650*|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	650	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.R650*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGGTGTCGGGCAGAGAGG	0.637000													32	72					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42046568	42046568	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:42046568G>A	ENST00000220809.4	-	4	393	c.137C>T	c.(136-138)aCg>aTg	p.T46M	PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.T46M|PLAT_ENST00000519510.1_Missense_Mutation_p.T46M|PLAT_ENST00000524009.1_Missense_Mutation_p.T46M|PLAT_ENST00000429710.2_Missense_Mutation_p.T46M|PLAT_ENST00000429089.2_Missense_Mutation_p.T46M	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	46	Fibronectin type-I.|Important for binding to annexin A2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TATCATCTGCGTTTTTTCATC	0.493000													7	130					0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33344575	33344575	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:33344575G>A	ENST00000315249.7	-	4	864	c.642C>T	c.(640-642)agC>agT	p.S214S	RFFL_ENST00000584655.1_Intron|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Silent_p.S214S			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	214					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGGCCACGCTCTCCAGGT	0.527000													4	7					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066568	18066568	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:18066568T>C	ENST00000506618.2	-	1	918	c.838A>G	c.(838-840)Aag>Gag	p.K280E		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	280					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGCTTCATCTTCTCATCTTGA	0.428000													46	79					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590779	172590779	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:172590779C>T	ENST00000231668.9	+	7	775	c.671C>T	c.(670-672)tCg>tTg	p.S224L	BNIP1_ENST00000351486.5_Missense_Mutation_p.S181L|BNIP1_ENST00000393770.4_Missense_Mutation_p.S147L|BNIP1_ENST00000352523.6_Missense_Mutation_p.S190L	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	181					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGTCCATGTCGGGCACCATC	0.498000													5	57					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763518	110763518	+	Silent	SNP	C	C	T	rs146797927		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:110763518C>T	ENST00000451085.1	+	4	1736	c.690C>T	c.(688-690)aaC>aaT	p.N230N	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Silent_p.N230N|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Silent_p.N230N|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	230						integral to membrane		p.N230N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACCAGATAACGCCTTGGTTG	0.358000													7	66					0	0	1	0	0
PTGIR	0	broad.mit.edu	37	19	47127100	47127100	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:47127100G>A	ENST00000291294.2	-	2	516	c.383C>T	c.(382-384)gCg>gTg	p.A128V	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A128V	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	128					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GTCCAGCTGCGCGTAGAGGTA	0.692000													9	10					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75563390	75563390	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:75563390C>T	ENST00000299641.4	-	12	2685	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	NDST2_ENST00000309979.6_Missense_Mutation_p.R695Q	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	695	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GATCTTGGCTCGTGGCAGGAG	0.557000													16	97					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156411927	156411927	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:156411927G>A	ENST00000461166.1	+	3	1624	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	346	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTACCACACAGTCTGGAAATT	0.383000													24	46					0	0	1	0	0
TAS1R1	0	broad.mit.edu	37	1	6634741	6634741	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:6634741C>A	ENST00000333172.6	+	3	742	c.549C>A	c.(547-549)ccC>ccA	p.P183P	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.P183P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	183					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAGTATCCCTCTTTCCTGC	0.587000													23	34					1.22574e-08	1.29225e-08	1	1	0
EP400	57634	broad.mit.edu	37	12	132502815	132502815	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:132502815G>A	ENST00000333577.4	+	22	4388	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	EP400_ENST00000330386.6_Missense_Mutation_p.A1391T|EP400_ENST00000389561.2_Missense_Mutation_p.A1391T|EP400_ENST00000332482.4_Missense_Mutation_p.A1354T|EP400_ENST00000389562.2_Missense_Mutation_p.A1390T			Q96L91	EP400_HUMAN	E1A binding protein p400	1427					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGTCACGAGGCAGAGTTGCT	0.463000													6	42					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164500	139164500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:139164500G>A	ENST00000395297.1	-	13	2388	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	740										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGCCGCTTGGCAAACTTGTG	0.522000										HNSCC(54;0.14)			11	31					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28014243	28014243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:28014243G>A	ENST00000381116.1	-	5	577	c.343C>T	c.(343-345)Cga>Tga	p.R115*	MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000381120.3_Nonsense_Mutation_p.R115*|MTIF3_ENST00000431572.2_Nonsense_Mutation_p.R115*			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	115					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGAACCAGTCGCAGGTCTCGC	0.478000													6	76					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520891	175520891	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:175520891A>G	ENST00000454872.1	+	14	2416	c.2288A>G	c.(2287-2289)cAa>cGa	p.Q763R		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	763					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAGACCCTTCAAGAAGCCCTG	0.433000													5	36					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25815687	25815687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:25815687G>A	ENST00000374343.4	+	9	1699	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	TMEM57_ENST00000399766.3_Missense_Mutation_p.R280Q|TMEM57_ENST00000399763.3_Missense_Mutation_p.R149Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	507						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACCTTACGGAATCGGATC	0.448000													6	23					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729067	196729067	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:196729067G>A	ENST00000312428.6	-	41	7412	c.7312C>T	c.(7312-7314)Cgt>Tgt	p.R2438C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2438	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2438C(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						TCTAACTGACGCATCTTATCA	0.433000													5	75					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234237188	234237188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:234237188C>T	ENST00000409110.1	+	8	807	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	193					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCCAGCCCCGAGCTGAGGC	0.582000													15	45					0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49574217	49574217	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:49574217C>T	ENST00000327171.3	+	6	737	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	GALK2_ENST00000560031.1_Missense_Mutation_p.R180C|GALK2_ENST00000396509.2_Missense_Mutation_p.R156C|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.R156C|GALK2_ENST00000543495.1_Missense_Mutation_p.R51C|GALK2_ENST00000559454.1_Missense_Mutation_p.R156C	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	180					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CAAGAGTGAGCGTTACATTGG	0.413000													18	45					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463271	25463271	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:25463271G>A	ENST00000264709.3	-	19	2559	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	741					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.A741V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGCCGCGCATCATGCAG	0.572000			"""Mis, F, N, S"""		AML								25	45					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10219597	10219597	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:10219597C>T	ENST00000256458.4	+	2	260	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	57	Death.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTGAGCATCACGCGGGAGCTG	0.637000													16	33					0	0	1	0	0
PCDHA5	0	broad.mit.edu	37	5	140203213	140203213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:140203213G>A	ENST00000529859.1	+	1	1853	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H	NM_018908.2	NP_061731.1												p.R618H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGTGCGCGCATCCCGTTC	0.652000													15	64					0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159711354	159711354	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:159711354G>A	ENST00000305579.2	+	5	727		c.e5-1		IL12A_ENST00000466512.1_Splice_Site|CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)						cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTCCTCTAGAATGGGAGTT	0.388000													8	84					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48625401	48625401	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:48625401A>C	ENST00000297423.4	+	15	2539	c.2155A>C	c.(2155-2157)Agc>Cgc	p.S719R	SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		TGCCCCTCACAGCCTCTTCTT	0.607000													17	46					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235416114	235416114	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:235416114G>A	ENST00000264183.3	-	6	782	c.285C>T	c.(283-285)gaC>gaT	p.D95D	ARID4B_ENST00000366603.2_Silent_p.D95D|ARID4B_ENST00000349213.3_Silent_p.D95D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTCATCTCCGTCATCAAAAA	0.378000													12	32					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14491076	14491076	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:14491076T>C	ENST00000249923.3	-	15	2071	c.1771A>G	c.(1771-1773)Act>Gct	p.T591A	COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	591					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGCAGGATAGTAGCCATGAGC	0.398000													5	52					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201358366	201358366	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:201358366C>T	ENST00000391967.2	-	2	405	c.104G>A	c.(103-105)cGc>cAc	p.R35H	LAD1_ENST00000367313.3_Missense_Mutation_p.R49H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	35	Poly-Arg.					basement membrane	structural molecule activity	p.R35L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTCAGGTTGCGGTGCCGCCG	0.657000													5	24					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226016443	226016443	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:226016443A>G	ENST00000366837.4	+	2	209	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	5					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGGCTAGAAATCCTCCTCAC	0.587000													4	19					0	0	1	0	0
TTI2	80185	broad.mit.edu	37	8	33357854	33357854	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:33357854G>A	ENST00000431156.2	-	7	2032	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	TTI2_ENST00000360742.5_Missense_Mutation_p.R472W|TTI2_ENST00000519356.1_5'UTR|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000520636.1_Missense_Mutation_p.R441W	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	472							binding										ACCTTTACCCGTCCTTGAGAA	0.468000													11	30					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185259915	185259915	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:185259915A>G	ENST00000367500.4	+	19	2848	c.2683A>G	c.(2683-2685)Atg>Gtg	p.M895V	SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	895										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTGTGAAGACATGCTCAACTA	0.403000													11	16					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19748735	19748735	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:19748735C>A	ENST00000203556.4	-	10	1058	c.921G>T	c.(919-921)ctG>ctT	p.L307L	GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000587238.1_Silent_p.L307L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	307					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCCGCCTCAGCACTTCAT	0.672000													8	15					2.17888e-05	2.2449e-05	1	1	0
GIGYF1	64599	broad.mit.edu	37	7	100280926	100280926	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:100280926C>T	ENST00000275732.5	-	18	3403		c.e18+1			NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAGCACCCACGTGCTTGCGC	0.642000													30	49					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46073658	46073658	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:46073658G>A	ENST00000350030.3	+	6	1162	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000537798.1_Missense_Mutation_p.A295T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	359	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTAGAGGCTGGATCAGA	0.527000													28	81					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30776149	30776149	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:30776149T>C	ENST00000382363.3	-	7	984	c.910A>G	c.(910-912)Aag>Gag	p.K304E		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	304						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CGCCGTGTCTTGAGGGATGCC	0.657000													10	65					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788424	10788424	+	Missense_Mutation	SNP	G	G	A	rs143356838		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:10788424G>A	ENST00000283025.2	-	1	378	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	103					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCGGCCCCACGCACCTGCAGC	0.672000													7	78					0	0	1	0	0
TMEM128	85013	broad.mit.edu	37	4	4239662	4239662	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:4239662G>A	ENST00000254742.2	-	4	913	c.326_splice	c.e4-1	p.C109_splice	TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133_splice|TMEM128_ENST00000382753.4_Splice_Site_p.C133_splice	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN	transmembrane protein 128	133						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAATGTTGAAGCTGAAAAGAA	0.343000													8	33					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27193181	27193181	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:27193181C>T	ENST00000335625.5	+	11	2078	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	GABRA5_ENST00000355395.5_Missense_Mutation_p.T397M|GABRA5_ENST00000400081.3_Missense_Mutation_p.T397M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	397					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAGCAGGGACGTCGAATACA	0.423000													4	13					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29488975	29488975	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:29488975T>C	ENST00000283351.4	-	7	1201		c.e7-2		TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_Splice_Site	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAGCCATCTACTGAAAAAG	0.358000													11	30					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264379	67264379	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:67264379G>A	ENST00000258201.4	-	19	3136	c.2889C>T	c.(2887-2889)taC>taT	p.Y963Y	FHOD1_ENST00000567687.1_Silent_p.Y542Y	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	963	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTGCGGGGTGTAGCCCAGGT	0.602000													13	79					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422012	1422012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:1422012C>A	ENST00000270349.9	-	5	898	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	257					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTTCACGCCCTTCCAGAGGC	0.637000													15	56					2.32078e-09	2.45943e-09	1	1	0
TADA3	10474	broad.mit.edu	37	3	9825746	9825746	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:9825746C>T	ENST00000343450.2	-	8	1619	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	TADA3_ENST00000301964.2_Missense_Mutation_p.A358T|TADA3_ENST00000440161.1_Missense_Mutation_p.A358T	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	358					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CGGTTGTGGGCACTAAGTGCC	0.627000													5	20					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159860404	159860404	+	Silent	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:159860404G>C	ENST00000368099.4	-	3	202	c.138C>G	c.(136-138)gcC>gcG	p.A46A	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	46						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGGCCCTGGGCTGGGGACT	0.532000													4	55					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25944348	25944348	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:25944348G>A	ENST00000398988.3	+	21	2621	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	KSR1_ENST00000319524.6_Missense_Mutation_p.D863N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000268763.6_Missense_Mutation_p.D726N	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	861	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGGCTTTCGACCTGCAGGA	0.607000													4	17					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35255348	35255348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:35255348C>T	ENST00000360310.1	-	13	2157	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	BAZ1A_ENST00000358716.4_Intron|BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	530					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAACTGTGGCCATGCAGCTG	0.358000													5	27					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534048	16534048	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:16534048G>A	ENST00000270747.3	-	5	979	c.843C>T	c.(841-843)aaC>aaT	p.N281N	ARHGEF19_ENST00000421561.1_Silent_p.N281N	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	281					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCCGCTCGTTGGTGCTCC	0.622000													7	20					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000544242.1_Missense_Mutation_p.R315H|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	774					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCTAGCTGACGCCGGAAACG	0.657000													10	16					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160314573	160314573	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:160314573C>A	ENST00000368063.1	+	3	367	c.87C>A	c.(85-87)ccC>ccA	p.P29P	NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000294785.5_Silent_p.P49P			Q92542	NICA_HUMAN	nicastrin	49					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGCTCCCTGTGTTCGCC	0.428000													4	23					0.00024832	0.000253286	1	1	0
C3orf20	84077	broad.mit.edu	37	3	14746120	14746120	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:14746120C>T	ENST00000253697.3	+	7	1607	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	C3orf20_ENST00000435614.1_Silent_p.F263F|C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	385						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTCCTCCTTCGTTTAGTATC	0.463000													33	99					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879989	39879989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:39879989G>A	ENST00000221265.3	-	6	724	c.394C>T	c.(394-396)Cga>Tga	p.R132*	PAF1_ENST00000221266.7_Nonsense_Mutation_p.R122*|PAF1_ENST00000595564.1_Nonsense_Mutation_p.R122*	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	132					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCTGTCTTTCGCATCCATGGC	0.542000													22	54					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20768869	20768869	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:20768869C>T	ENST00000256925.7	+	2	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W|CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000400473.2_5'UTR	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	305	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCCCCTCTCCGGAGGTAATT	0.398000													5	15					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450453	44450453	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:44450453C>T	ENST00000360029.3	-	1	371	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	30						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gcggcggcggccgacgcgccg	0.687000										HNSCC(17;0.042)			4	4					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16956572	16956572	+	RNA	SNP	G	G	A	rs112034187		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:16956572G>A	ENST00000412962.1	-	0	294																											CACTCTCGCTGTCGCTAAGCT	0.642000													5	33					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169815	49169815	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:49169815C>T	ENST00000307885.4	-	8	2431	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	ADCY6_ENST00000550422.1_Silent_p.G579G|ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	579					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGGCATCAGCCCTTCCATGG	0.647000													8	13					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234371288	234371288	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:234371288G>T	ENST00000264057.2	+	26	3105		c.e26-1		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTTCTTCTAGGGGCTCAACT	0.592000													8	113					1.26484e-09	1.3439e-09	1	1	0
FDXR	2232	broad.mit.edu	37	17	72860461	72860461	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:72860461G>A	ENST00000455107.2	-	10	1095	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	FDXR_ENST00000442102.2_Missense_Mutation_p.R314C|FDXR_ENST00000583917.1_Missense_Mutation_p.R243C|FDXR_ENST00000582944.1_Missense_Mutation_p.R263C|FDXR_ENST00000544854.1_Missense_Mutation_p.R219C|FDXR_ENST00000413947.2_Missense_Mutation_p.R302C|FDXR_ENST00000420580.2_Missense_Mutation_p.R231C|FDXR_ENST00000581530.1_Missense_Mutation_p.R277C|FDXR_ENST00000293195.5_Missense_Mutation_p.R271C			P22570	ADRO_HUMAN	ferredoxin reductase	271					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCCTCGGGCGGGGGACCTCT	0.687000											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	22					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98418415	98418415	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:98418415C>G	ENST00000186436.5	-	25	2889	c.2661G>C	c.(2659-2661)ttG>ttC	p.L887F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	887						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCACCTTACTCAAGTTAAACC	0.299000													10	15					0	0	1	0	0
GMPPB	29925	broad.mit.edu	37	3	49759676	49759676	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:49759676G>A	ENST00000480687.1	-	8	872	c.756C>T	c.(754-756)ggC>ggT	p.G252G	GMPPB_ENST00000308388.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.G252G			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	252					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGCACGTTGCCCACAATGC	0.602000													6	46					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129800950	129800950	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:129800950C>T	ENST00000358825.5	-	11	1722	c.1491G>A	c.(1489-1491)acG>acA	p.T497T	PRDM10_ENST00000360871.3_Silent_p.T497T|PRDM10_ENST00000304538.6_Silent_p.T411T|PRDM10_ENST00000526082.1_Silent_p.T411T|PRDM10_ENST00000528746.1_Silent_p.T471T|PRDM10_ENST00000423662.2_Silent_p.T411T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGCTGTCAGCGTGCTCTGGG	0.622000													14	56					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2222180	2222180	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:2222180C>T	ENST00000398665.3	+	24	3048	c.3012C>T	c.(3010-3012)caC>caT	p.H1004H		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1004						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CTCCCGCCCACCAGCTCTCCT	0.701000													12	16					0	0	1	0	0
SPAM1	0	broad.mit.edu	37	7	123594472	123594472	+	Missense_Mutation	SNP	G	G	A	rs147745114		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:123594472G>A	ENST00000340011.5	+	3	1205	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	SPAM1_ENST00000439500.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R283Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R283Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	283					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATCGAGTTCGGGAAGCCATC	0.423000													27	46					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832714	42832714	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:42832714C>T	ENST00000314073.5	+	13	2946	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R924W					GLTSCR1-like																		GAAGGCCAGCCGGAGAGAGCC	0.517000													6	34					0	0	1	0	0
CCDC109B	55013	broad.mit.edu	37	4	110608693	110608693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:110608693C>T	ENST00000394650.4	+	8	1089	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	319						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CTGAAACAGGCGCGTCATTCT	0.348000													9	24					0	0	1	0	0
GPRC5B	0	broad.mit.edu	37	16	19883185	19883185	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:19883185C>A	ENST00000300571.2	-	2	1174	c.983G>T	c.(982-984)cGg>cTg	p.R328L	GPRC5B_ENST00000569847.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R354L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R328L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	328										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CATATAGGCCCGCGGCAGCTG	0.607000													5	60					3.59834e-05	3.69804e-05	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93768864	93768864	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:93768864G>A	ENST00000265990.6	+	28	4310	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	BTAF1_ENST00000544642.1_Silent_p.P162P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1334	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.P1334P(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGTTTGTCCGCCAACATTAA	0.408000													21	47					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033216	41033216	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr21:41033216G>A	ENST00000380620.3	+	5	1322	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	B3GALT5_ENST00000380618.1_Missense_Mutation_p.V244M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V244M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V244M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	244					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGGAAGACGTGTTTGTGGG	0.557000													26	56					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60098741	60098741	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:60098741T>C	ENST00000261187.4	+	2	323	c.159T>C	c.(157-159)acT>acC	p.T53T	SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000549588.1_3'UTR	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	53						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TATTCCACACTACCTACAGTG	0.383000													24	46					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84690912	84690912	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:84690912A>G	ENST00000564996.1	+	3	640	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	167	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGATGCCTTCATCGATGGCTT	0.567000													8	49					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43515294	43515294	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:43515294G>A	ENST00000430334.3	-	12	3234	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1034					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTTCACCACAGCCTGGCAGCT	0.647000													4	22					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1543259	1543259	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:1543259G>T	ENST00000263071.4	-	6	1135	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	362	EGF-like 6.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGTATCACAGGACCCCTGAA	0.642000													7	35					2.7689e-08	2.91162e-08	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35425622	35425622	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:35425622A>G	ENST00000287272.2	+	3	349	c.329A>G	c.(328-330)aAg>aGg	p.K110R	UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	110	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAGGTTTGAAGGTCCGCGAA	0.463000													11	131					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75655014	75655014	+	Missense_Mutation	SNP	C	C	T	rs149884810		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:75655014C>T	ENST00000565683.1	-	7	877	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	MAN2C1_ENST00000267978.5_Missense_Mutation_p.R289Q|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000563622.1_Intron	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	289					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCAGGGTTCCGCTCCATGAG	0.622000													7	19					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225307	79225307	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:79225307G>A	ENST00000374759.3	-	14	2434	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A684V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	684					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGCTGGCTGGCCGCCTGGTT	0.736000													3	12					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67865241	67865241	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:67865241G>A	ENST00000562787.1	-	10	1129	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	194					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AAGAGGTGTGGCAAAGGTCAG	0.617000													17	28					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42423017	42423017	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:42423017C>A	ENST00000328823.9	+	6	793	c.762C>A	c.(760-762)gcC>gcA	p.A254A	WBP2NL_ENST00000543212.1_Silent_p.A180A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GATATGGAGCCCCACCTCTCG	0.597000													9	187					0.000673444	0.000683495	1	1	0
CAPZA1	829	broad.mit.edu	37	1	113197226	113197226	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:113197226G>T	ENST00000263168.3	+	5	1031	c.359G>T	c.(358-360)tGg>tTg	p.W120L	CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	120					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAGTCTTGGAGAGAATCC	0.413000													9	91					2.17888e-05	2.2449e-05	1	1	0
NEURL4	84461	broad.mit.edu	37	17	7224437	7224437	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:7224437G>A	ENST00000399464.2	-	20	3369	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	NEURL4_ENST00000315614.7_Silent_p.G1116G|NEURL4_ENST00000570460.1_Silent_p.G1094G	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											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						TTACTCCCAGGCCATGCTCCT	0.612000													4	45					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940628	144940628	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:144940628G>A	ENST00000525985.1	-	2	6865	c.6794C>T	c.(6793-6795)gCg>gTg	p.A2265V				P58107	EPIPL_HUMAN	epiplakin 1	2265						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCCTGCGCCTCCAGCAG	0.726000													6	86					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592024	6592024	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:6592024T>A	ENST00000254579.6	+	42	13846	c.13282T>A	c.(13282-13284)Tct>Act	p.S4428T	DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTTCCTGAGTCTCGAAGAGG	0.637000													12	18					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:24078404delA	ENST00000418390.2	+	4	1658	c.1387delA	c.(1387-1389)aafs	p.K464fs		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	464					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	103	---	---	---	---					
DNAJB4	11080	broad.mit.edu	37	1	78479135	78479136	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78479135_78479136insA	ENST00000370763.5	+	2	869_870	c.612_613insA	c.(610-615)ataaaafs	p.IK204fs	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	204					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCATTGAGATTAAAAAAGGGTG	0.356													26	75	---	---	---	---					
DNASE2B	58511	broad.mit.edu	37	1	84880400	84880400	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:84880400delA	ENST00000370665.3	+	6	968	c.935delA	c.(934-936)cafs	p.Q312fs	DNASE2B_ENST00000370662.3_Frame_Shift_Del_p.Q104fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	312					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TGTATTTCCCAAAAGGGCACC	0.408													19	32	---	---	---	---					
LMNA	4000	broad.mit.edu	37	1	156104218	156104218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156104218delA	ENST00000368300.4	+	3	750	c.538delA	c.(538-540)agfs	p.K181fs	LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	181	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGTGAGGCCAAGAAGCAACT	0.542									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				15	33	---	---	---	---					
PGBD2	0	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:249211828delT	ENST00000355360.4	+	3	562	c.292delT	c.(292-294)ttfs	p.F99fs	PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438													7	144	---	---	---	---					
MSH2	4436	broad.mit.edu	37	2	47693894	47693895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:47693894_47693895insA	ENST00000406134.1	+	10	1670_1671	c.1608_1609insA	c.(1606-1611)aaaaaafs	p.KK536fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.KK470fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.KK536fs			P43246	MSH2_HUMAN	mutS homolog 2	536					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCGTAACAATAAAAACTTTAG	0.342			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				22	40	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)cafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													11	46	---	---	---	---					
ATP2B2	491	broad.mit.edu	37	3	10429962	10429962	+	Splice_Site	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10429962delT	ENST00000397077.1	-	8	1481	c.907_splice	c.e8+1	p.K302_splice	ATP2B2_ENST00000352432.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000343816.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000383800.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000360273.2_Splice_Site_p.K302_splice			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	302					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A303fs*56(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TAGGCTTACCTTTTTTGTCTT	0.453													48	94	---	---	---	---					
TOP2B	7155	broad.mit.edu	37	3	25674067	25674067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:25674067delT	ENST00000435706.2	-	10	1322	c.1121delA	c.(1120-1122)acfs	p.N374fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	379					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CCATATATGGTTTTTTACCTG	0.299													14	21	---	---	---	---					
ACAA1	30	broad.mit.edu	37	3	38167143	38167143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38167143delC	ENST00000333167.8	-	11	1284	c.1112delG	c.(1111-1113)gtfs	p.G371fs	ACAA1_ENST00000450296.1_Frame_Shift_Del_p.G330fs|ACAA1_ENST00000301810.7_Frame_Shift_Del_p.G278fs|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	371					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GGCCACTGCACCCCCCAGGGG	0.607													24	60	---	---	---	---					
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aafs	p.K44fs	ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	44					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408													18	33	---	---	---	---					
LPP	4026	broad.mit.edu	37	3	188327517	188327519	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:188327517_188327519delCTC	ENST00000312675.4	+	6	1244_1246	c.998_1000delCTC	c.(997-1002)act>a	p.TP333del	LPP_ENST00000543006.1_In_Frame_Del_p.TP333del|LPP_ENST00000448637.1_In_Frame_Del_p.TP333del|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	333	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCAGGGTACACTCCTCCTGGAGC	0.552			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								17	66	---	---	---	---					
GP5	2814	broad.mit.edu	37	3	194117340	194117341	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:194117340_194117341delCT	ENST00000401815.1	-	1	1742_1743	c.1671_1672delAG	c.(1669-1674)agccfs	p.RA557fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	557					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCCAAGGGCTCTCTCTCTGA	0.446													7	198	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815897	+	RNA	DEL	AAA	AAA	-	rs145239076		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:19815895_19815897delAAA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaaaa	0.409													2	4	---	---	---	---					
KIF2A	3796	broad.mit.edu	37	5	61677057	61677057	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:61677057delT	ENST00000381103.2	+	20	2437	c.1952delT	c.(1951-1953)aafs	p.I651fs	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000401507.3_Frame_Shift_Del_p.I671fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	671					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GAGCAAAAAATAGACATTTTA	0.348													49	101	---	---	---	---					
GPR98	84059	broad.mit.edu	37	5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:89979676_89979677insT	ENST00000405460.2	+	28	6034_6035	c.5938_5939insT	c.(5938-5940)tttfs	p.F1980fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1980					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S1982fs*2(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATATTCATTTTTTCTGAG	0.401													15	23	---	---	---	---					
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(697-702)acaaaafs	p.TK233fs		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401													26	71	---	---	---	---					
CHSY3	337876	broad.mit.edu	37	5	129241153	129241153	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:129241153delC	ENST00000305031.4	+	1	989	c.631delC	c.(631-633)ccfs	p.P212fs	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	212	Pro-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGCCAGCAGCCCCCCAACGC	0.667													20	17	---	---	---	---					
ADRA1B	147	broad.mit.edu	37	5	159344293	159344293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:159344293delG	ENST00000306675.3	+	1	504	c.381delG	c.(379-381)ctfs	p.L127fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	127					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	TGGATGTCCTGTGCTGCACAG	0.622													32	38	---	---	---	---					
BTN2A3P	0	broad.mit.edu	37	6	26428210	26428210	+	RNA	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:26428210delA	ENST00000466808.2	+	0	1179																											CTCCAAAAGGAAAAAAAAGAT	0.413													33	55	---	---	---	---					
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)aaafs	p.K1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													8	90	---	---	---	---					
TCP1	6950	broad.mit.edu	37	6	160209177	160209178	+	Splice_Site	DEL	TG	TG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:160209177_160209178delTG	ENST00000321394.7	-	2	345		c.e2-2		TCP1_ENST00000420894.2_Splice_Site|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CAGCCATAACTGTAGACAATCA	0.371													9	42	---	---	---	---					
NT5C3A	51251	broad.mit.edu	37	7	33061665	33061666	+	Splice_Site	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:33061665_33061666insT	ENST00000396152.2	-	5	553_554	c.252_splice	c.e5+1	p.I84_splice	NT5C3A_ENST00000405342.1_Splice_Site_p.I84_splice|NT5C3A_ENST00000409467.1_Splice_Site_p.I72_splice|NT5C3A_ENST00000242210.7_Splice_Site_p.I123_splice|NT5C3A_ENST00000381626.2_Splice_Site_p.I72_splice|NT5C3A_ENST00000409787.1_Splice_Site_p.I84_splice|AVL9_ENST00000404479.1_Intron	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA									p.K123K(1)|p.K84K(1)									TAGTGTTTACCTTTTTTCTACA	0.322													4	7	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885					NR_002164.1																						ATACCACCCCCGGGGCATGCCA	0.505													7	11	---	---	---	---					
DMTF1	9988	broad.mit.edu	37	7	86817443	86817444	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:86817443_86817444insA	ENST00000414194.2	+	13	2231_2232	c.439_440insA	c.(439-441)aaafs	p.K147fs	DMTF1_ENST00000331242.7_Frame_Shift_Ins_p.K413fs|DMTF1_ENST00000394703.5_Frame_Shift_Ins_p.K413fs|DMTF1_ENST00000432937.2_Frame_Shift_Ins_p.K325fs|DMTF1_ENST00000413276.2_Intron			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	413	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACATGAGAACCAAAAAAACAAC	0.411													17	57	---	---	---	---					
RGS22	26166	broad.mit.edu	37	8	101014478	101014478	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:101014478delT	ENST00000360863.6	-	18	2936	c.2742delA	c.(2740-2742)aafs	p.K914fs	RGS22_ENST00000523437.1_Frame_Shift_Del_p.K902fs|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K733fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	914	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAAAGAAATATTTTTTATTAA	0.343													20	31	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aafs	p.K2120fs	UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378													8	74	---	---	---	---					
EPPK1	83481	broad.mit.edu	37	8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144941378delC	ENST00000525985.1	-	2	6115	c.6044delG	c.(6043-6045)gtfs	p.G2015fs				P58107	EPIPL_HUMAN	epiplakin 1	2015						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGATGACACCCCCCGTGGC	0.622													9	22	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107555161	107555167	+	Frame_Shift_Del	DEL	AGAGGAG	AGAGGAG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:107555161_107555167delAGAGGAG	ENST00000374736.3	-	42	6051_6057	c.5657_5663delCTCCTCT	c.(5656-5664)tgfs	p.SPL1886fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1886					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCATCATTCAGAGGAGATAGCTTTGC	0.386													21	55	---	---	---	---					
KCNT1	57582	broad.mit.edu	37	9	138657029	138657029	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:138657029delC	ENST00000298480.5	+	12	1262	c.1188delC	c.(1186-1188)cafs	p.H396fs	KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000263604.3_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	396						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACGCCCACCCCCGGCTCC	0.642													12	40	---	---	---	---					
WDR37	22884	broad.mit.edu	37	10	1149689	1149689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:1149689delG	ENST00000358220.1	+	10	1018	c.874delG	c.(874-876)ggfs	p.G293fs	WDR37_ENST00000263150.4_Frame_Shift_Del_p.G293fs			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	293										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTGGCTGGTTGGGGGGAAGCA	0.642													16	45	---	---	---	---					
DNA2	1763	broad.mit.edu	37	10	70182521	70182521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70182521delA	ENST00000399180.2	-	15	2592	c.2593delT	c.(2593-2595)cafs	p.S865fs	DNA2_ENST00000358410.3_Frame_Shift_Del_p.S779fs|DNA2_ENST00000399179.2_Intron			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	779					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	p.S779fs*6(1)|p.S865fs*6(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATCTCCGTGAAAAAAAAAGG	0.403													11	41	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560464	75560464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:75560464delC	ENST00000604729.1	+	24	5366	c.5069delC	c.(5068-5070)tcfs	p.S1690fs	NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.S1693fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S1698fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S1511fs					zinc finger, SWIM-type containing 8																		TTCTCCCGCTCCCCCCCCTAC	0.607													25	54	---	---	---	---					
OR5F1	338674	broad.mit.edu	37	11	55762087	55762088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:55762087_55762088insT	ENST00000278409.1	-	1	13_14	c.14_15insA	c.(13-15)atafs	p.I5fs		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGAGGTATAATTTTTTCTGGT	0.307													16	44	---	---	---	---					
OR8J1	219477	broad.mit.edu	37	11	56128471	56128471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56128471delT	ENST00000303039.3	+	1	781	c.749delT	c.(748-750)atfs	p.I250fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAGTCACAATTTTTTATGGG	0.348													8	113	---	---	---	---					
MAP3K11	4296	broad.mit.edu	37	11	65365835	65365835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65365835delC	ENST00000309100.3	-	10	2956	c.2471delG	c.(2470-2472)gcfs	p.G824fs	MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs|MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	824	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GTCCTGGGGGCCCCCCTGGAA	0.701													8	11	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:66055105delG	ENST00000376901.4	-	4	575	c.391delC	c.(391-393)ggfs	p.R131fs	YIF1A_ENST00000359461.6_Frame_Shift_Del_p.R131fs|YIF1A_ENST00000471387.2_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AGGTCTTGCCGGGGGGGCAGA	0.622													10	45	---	---	---	---					
TAF1D	79101	broad.mit.edu	37	11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)agfs	p.K96fs		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348													7	107	---	---	---	---					
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27829391delG	ENST00000318304.8	+	18	1775	c.1492delG	c.(1492-1494)ggfs	p.G498fs	PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552													22	55	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46123836	46123837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:46123836_46123837insA	ENST00000334344.6	+	2	274_275	c.102_103insA	c.(100-105)ttaaaafs	p.LK34fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	34	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			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)		GGTCGCCTTTTAAAAAAATCCC	0.624			"""N, S, F"""		hepatocellular carcinoma								7	8	---	---	---	---					
SRGAP1	57522	broad.mit.edu	37	12	64377821	64377821	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:64377821delA	ENST00000355086.3	+	2	686	c.162delA	c.(160-162)cgfs	p.R54fs	SRGAP1_ENST00000543397.1_Frame_Shift_Del_p.R14fs|SRGAP1_ENST00000357825.3_Frame_Shift_Del_p.R54fs	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	54	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTTCTTCCGAAAAAAAGCTG	0.418													18	65	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72013161	72013161	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:72013161delA	ENST00000378743.3	-	27	5436	c.5078delT	c.(5077-5079)tgfs	p.L1693fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1693					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAATTTCCGCAAAAATGGAAG	0.348													15	21	---	---	---	---					
STARD13	90627	broad.mit.edu	37	13	33684168	33684168	+	Frame_Shift_Del	DEL	G	G	-	rs34251901	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:33684168delG	ENST00000336934.5	-	12	3005	c.2889delC	c.(2887-2889)ccfs	p.P963fs	STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs|STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACCACTGAGGGGGGTGCTT	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25453558	25453560	+	RNA	DEL	CTT	CTT	-	rs71418028		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:25453558_25453560delCTT	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTTTGAGTGACTTCTTCTGCCCA	0.631													9	12	---	---	---	---					
PDE8A	5151	broad.mit.edu	37	15	85659319	85659325	+	Frame_Shift_Del	DEL	ATTTTTG	ATTTTTG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:85659319_85659325delATTTTTG	ENST00000310298.4	+	17	1756_1762	c.1504_1510delATTTTTG	c.(1504-1512)aafs	p.IFE502fs	PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	502					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGACTTTGATATTTTTGAACTGGAGGC	0.493													22	55	---	---	---	---					
MAN2A2	4122	broad.mit.edu	37	15	91456125	91456125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:91456125delC	ENST00000360468.3	+	16	2506	c.2488delC	c.(2488-2490)ccfs	p.P831fs	MAN2A2_ENST00000559717.1_Frame_Shift_Del_p.P831fs|MAN2A2_ENST00000430376.2_Frame_Shift_Del_p.P21fs|MAN2A2_ENST00000431652.2_Frame_Shift_Del_p.P339fs	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	831					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCCAAGGAGCCCCCCGTGCT	0.572													8	69	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72822112	72822113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:72822112_72822113insC	ENST00000268489.5	-	10	10734_10735	c.10062_10063insG	c.(10060-10065)ggtgtcfs	p.V3355fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.V2441fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3355					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTGGGGACAGCCCCATCAGGG	0.624													23	56	---	---	---	---					
GEMIN4	50628	broad.mit.edu	37	17	650298	650298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:650298delC	ENST00000576778.1	-	1	2293	c.952delG	c.(952-954)agfs	p.E319fs	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Frame_Shift_Del_p.E330fs			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	330					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	p.E329fs*24(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCAACTCCTCCCCCCACTCC	0.627													11	82	---	---	---	---					
PFN1	5216	broad.mit.edu	37	17	4850039	4850041	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:4850039_4850041delTTC	ENST00000225655.5	-	2	826_828	c.207_209delGAA	c.(205-210)caa>ca	p.QK69del	PFN1_ENST00000574872.1_In_Frame_Del_p.QK33del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	69					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CACCGAACATTTCTGGCCCCCAA	0.562													22	67	---	---	---	---					
NCOR1	9611	broad.mit.edu	37	17	15965099	15965099	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:15965099delG	ENST00000268712.3	-	37	5754	c.5497delC	c.(5497-5499)agfs	p.Q1833fs	NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs|NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1833	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCCATCTGGGGTGCAGAA	0.532													17	56	---	---	---	---					
CACNB1	782	broad.mit.edu	37	17	37331578	37331579	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:37331578_37331579delAT	ENST00000394303.3	-	14	1871_1872	c.1664_1665delAT	c.(1663-1665)tfs	p.Y555fs	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	555					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GCTCTTCCTCATAGTCTTCTTC	0.649											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	204	---	---	---	---					
RAMP2-AS1	0	broad.mit.edu	37	17	40905932	40905932	+	RNA	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:40905932delT	ENST00000592670.1	-	0	3117					NR_024461.1																						CTCCAACttcttttttttttt	0.537													3	5	---	---	---	---					
ENGASE	64772	broad.mit.edu	37	17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:77079175_77079177delAGA	ENST00000579016.1	+	8	1112_1114	c.1112_1114delAGA	c.(1111-1116)gag>g	p.EK371del	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	371	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	67	---	---	---	---					
ICAM3	3385	broad.mit.edu	37	19	10446010	10446011	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:10446010_10446011insG	ENST00000589261.1	-	4	969_970	c.437_438insC	c.(436-438)ccgfs	p.P146fs	ICAM3_ENST00000160262.5_Frame_Shift_Ins_p.P223fs			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	223	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCACGAGGCGCGGGGGGGTCAC	0.649													9	18	---	---	---	---					
ILVBL	10994	broad.mit.edu	37	19	15233586	15233587	+	Frame_Shift_Del	DEL	CG	CG	-	rs114838237	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:15233586_15233587delCG	ENST00000263383.3	-	6	772_773	c.633_634delCG	c.(631-636)gatgfs	p.DV211fs	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Frame_Shift_Del_p.DV104fs	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	211						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGGTACAGCACGTCAACGGGCA	0.629													28	37	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:45805663_45805664insC	ENST00000300843.4	+	18	2331_2332	c.2034_2035insC	c.(2032-2037)ccccccfs	p.PP678fs	MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639													42	132	---	---	---	---					
CGB5	93659	broad.mit.edu	37	19	49548414	49548414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49548414delG	ENST00000301408.6	+	3	687	c.361delG	c.(361-363)ggfs	p.G122fs	CGB1_ENST00000391869.3_Intron	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	122					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|pancreas(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	CACTGACTGCGGGGGTCCCAA	0.672													9	16	---	---	---	---					
EMC10	284361	broad.mit.edu	37	19	50985132	50985132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:50985132delG	ENST00000376918.3	+	7	739	c.693delG	c.(691-693)ctfs	p.L231fs	EMC10_ENST00000598585.1_Intron|EMC10_ENST00000334976.6_Intron|CTD-2545M3.2_ENST00000598194.1_RNA	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10									p.A234fs*56(1)									ACATCATCCTGGGGGGGGCCG	0.736													7	5	---	---	---	---					
ZNF616	90317	broad.mit.edu	37	19	52618188	52618188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:52618188delT	ENST00000600228.1	-	4	2490	c.2229delA	c.(2227-2229)aafs	p.K743fs	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P744fs*3(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTTATAAGGTTTTTTGCCAG	0.393													11	85	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33044256	33044257	+	In_Frame_Ins	INS	-	-	GCT			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:33044256_33044257insGCT	ENST00000286835.7	-	20	3281_3282	c.2899_2900insAGC	c.(2899-2901)acc>AGCacc	p.966_967insS	SCAF4_ENST00000399804.1_In_Frame_Ins_p.944_945insS|SCAF4_ENST00000434667.3_In_Frame_Ins_p.951_952insS	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGATGGTGgtggctgctgctgc	0.574													14	74	---	---	---	---					
PAXBP1	94104	broad.mit.edu	37	21	34132172	34132173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:34132172_34132173insT	ENST00000331923.4	-	6	1297_1298	c.1108_1109insA	c.(1108-1110)agafs	p.R370fs	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.R370fs	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TGTATTATCTGTTTTTTGAGAT	0.406													26	85	---	---	---	---					
CLTCL1	8218	broad.mit.edu	37	22	19226837	19226837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:19226837delA	ENST00000263200.10	-	5	828	c.756delT	c.(754-756)ttfs	p.F252fs	CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	252	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCTCTGGAGGAAAAAACACAT	0.428			T	?	ALCL								42	97	---	---	---	---					
GNAZ	2781	broad.mit.edu	37	22	23438097	23438099	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:23438097_23438099delTCA	ENST00000248996.4	+	2	881_883	c.215_217delTCA	c.(214-219)ctc>c	p.LI72del	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	72						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TACAAGCCCCTCATCATCTACAA	0.606													17	160	---	---	---	---					
EFCAB6	64800	broad.mit.edu	37	22	44063044	44063044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:44063044delT	ENST00000262726.7	-	17	2176	c.1923delA	c.(1921-1923)aafs	p.K641fs	EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K489fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	641	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAGAAATCGTTTTTTGAATG	0.408													14	79	---	---	---	---					
GTSE1	51512	broad.mit.edu	37	22	46725429	46725429	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:46725429delA	ENST00000454366.1	+	11	2313	c.2101delA	c.(2101-2103)aafs	p.K701fs		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	682					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACATGAATAAAAATGTGGC	0.517													23	59	---	---	---	---					
MXRA5	25878	broad.mit.edu	37	X	3228603	3228604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:3228603_3228604insG	ENST00000217939.6	-	7	7794_7795	c.7640_7641insC	c.(7639-7641)catfs	p.H2547fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2547	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCGCTGATCGGGTCGTGGAA	0.634													11	5	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)ccfs	p.P135fs	PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488													9	58	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38020284	38020284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:38020284delG	ENST00000378533.3	-	6	783	c.677delC	c.(676-678)cafs	p.P226fs	SRPX_ENST00000432886.2_Frame_Shift_Del_p.P167fs|SRPX_ENST00000538295.1_Frame_Shift_Del_p.P226fs|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Frame_Shift_Del_p.P213fs|SRPX_ENST00000544439.1_Frame_Shift_Del_p.P206fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	226	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTTGGAGCCTGGGGGGAGGCC	0.433													30	18	---	---	---	---					
ZNF41	7592	broad.mit.edu	37	X	47315344	47315344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:47315344delC	ENST00000377065.4	-	4	910	c.271delG	c.(271-273)aafs	p.E91fs	ZNF41_ENST00000313116.7_Frame_Shift_Del_p.E91fs|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Frame_Shift_Del_p.E101fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	133	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGTGGGGCTTCCCCCTCCAGC	0.532													15	5	---	---	---	---					
USP26	83844	broad.mit.edu	37	X	132160413	132160413	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:132160413delT	ENST00000511190.1	-	6	2305	c.1836delA	c.(1834-1836)aafs	p.K612fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.K612fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.K612fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	612					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.K611fs*4(1)|p.K612fs*6(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTGTCTGGCCTTTTTTTTGTT	0.413													16	15	---	---	---	---					
PGBD2	0	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:249211828delT	ENST00000355360.4	+	3	562	c.292delT	c.(292-294)ttfs	p.F99fs	PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438													7	144	---	---	---	---					
MSH2	4436	broad.mit.edu	37	2	47693894	47693895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:47693894_47693895insA	ENST00000406134.1	+	10	1670_1671	c.1608_1609insA	c.(1606-1611)aaaaaafs	p.KK536fs	MSH2_ENST00000233146.2_Frame_Shift_Ins_p.KK536fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.KK470fs			P43246	MSH2_HUMAN	mutS homolog 2	536					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCGTAACAATAAAAACTTTAG	0.342			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				22	40	---	---	---	---					
TOP2B	7155	broad.mit.edu	37	3	25674067	25674067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:25674067delT	ENST00000435706.2	-	10	1322	c.1121delA	c.(1120-1122)acfs	p.N374fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	379					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CCATATATGGTTTTTTACCTG	0.299													14	21	---	---	---	---					
GP5	2814	broad.mit.edu	37	3	194117340	194117341	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:194117340_194117341delCT	ENST00000401815.1	-	1	1742_1743	c.1671_1672delAG	c.(1669-1674)agccfs	p.RA557fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	557					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCCAAGGGCTCTCTCTCTGA	0.446													7	198	---	---	---	---					
GPR98	84059	broad.mit.edu	37	5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:89979676_89979677insT	ENST00000405460.2	+	28	6034_6035	c.5938_5939insT	c.(5938-5940)tttfs	p.F1980fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1980					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S1982fs*2(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATATTCATTTTTTCTGAG	0.401													15	23	---	---	---	---					
TCP1	6950	broad.mit.edu	37	6	160209177	160209178	+	Splice_Site	DEL	TG	TG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:160209177_160209178delTG	ENST00000321394.7	-	2	345		c.e2-2		TCP1_ENST00000544255.1_Intron|TCP1_ENST00000420894.2_Splice_Site|TCP1_ENST00000392168.2_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CAGCCATAACTGTAGACAATCA	0.371													9	42	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885					NR_002164.1																						ATACCACCCCCGGGGCATGCCA	0.505													7	11	---	---	---	---					
DNAJC2	27000	broad.mit.edu	37	7	102964991	102964992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:102964991_102964992insT	ENST00000379263.3	-	6	840_841	c.590_591insA	c.(589-591)agtfs	p.S197fs	DNAJC2_ENST00000249270.7_Frame_Shift_Ins_p.S197fs|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	197	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTTTAGGAACATTTTTTTTATT	0.238													18	51	---	---	---	---					
RGS22	26166	broad.mit.edu	37	8	101014478	101014478	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:101014478delT	ENST00000360863.6	-	18	2936	c.2742delA	c.(2740-2742)aafs	p.K914fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K733fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K902fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	914	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAAAGAAATATTTTTTATTAA	0.343													20	31	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113241029	113241029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:113241029delA	ENST00000297405.5	-	70	11164	c.10920delT	c.(10918-10920)ttfs	p.F3640fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3640						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAGTGCAAAAAAAGGCA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	47	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107555161	107555167	+	Frame_Shift_Del	DEL	AGAGGAG	AGAGGAG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:107555161_107555167delAGAGGAG	ENST00000374736.3	-	42	6051_6057	c.5657_5663delCTCCTCT	c.(5656-5664)tgfs	p.SPL1886fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1886					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCATCATTCAGAGGAGATAGCTTTGC	0.386													21	55	---	---	---	---					
WDR37	22884	broad.mit.edu	37	10	1149689	1149689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:1149689delG	ENST00000358220.1	+	10	1018	c.874delG	c.(874-876)ggfs	p.G293fs	WDR37_ENST00000263150.4_Frame_Shift_Del_p.G293fs			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	293										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTGGCTGGTTGGGGGGAAGCA	0.642													16	45	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gafs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													8	152	---	---	---	---					
OR8J1	219477	broad.mit.edu	37	11	56128471	56128471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:56128471delT	ENST00000303039.3	+	1	781	c.749delT	c.(748-750)atfs	p.I250fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAGTCACAATTTTTTATGGG	0.348													8	113	---	---	---	---					
MAP3K11	4296	broad.mit.edu	37	11	65365835	65365835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:65365835delC	ENST00000309100.3	-	10	2956	c.2471delG	c.(2470-2472)gcfs	p.G824fs	MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs|MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	824	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GTCCTGGGGGCCCCCCTGGAA	0.701													8	11	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:66055105delG	ENST00000376901.4	-	4	575	c.391delC	c.(391-393)ggfs	p.R131fs	YIF1A_ENST00000359461.6_Frame_Shift_Del_p.R131fs|YIF1A_ENST00000471387.2_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AGGTCTTGCCGGGGGGGCAGA	0.622													10	45	---	---	---	---					
TAF1D	79101	broad.mit.edu	37	11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)agfs	p.K96fs		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348													7	107	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102743846	102743847	+	RNA	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGTATCTCTGGAAAAAAAAATA	0.332													8	10	---	---	---	---					
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:27829391delG	ENST00000318304.8	+	18	1775	c.1492delG	c.(1492-1494)ggfs	p.G498fs	PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552													22	55	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46123836	46123837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:46123836_46123837insA	ENST00000334344.6	+	2	274_275	c.102_103insA	c.(100-105)ttaaaafs	p.LK34fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	34	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			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)		GGTCGCCTTTTAAAAAAATCCC	0.624			"""N, S, F"""		hepatocellular carcinoma								7	8	---	---	---	---					
SRGAP1	57522	broad.mit.edu	37	12	64377821	64377821	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:64377821delA	ENST00000355086.3	+	2	686	c.162delA	c.(160-162)cgfs	p.R54fs	SRGAP1_ENST00000543397.1_Frame_Shift_Del_p.R14fs|SRGAP1_ENST00000357825.3_Frame_Shift_Del_p.R54fs	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	54	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTTCTTCCGAAAAAAAGCTG	0.418													18	65	---	---	---	---					
STARD13	90627	broad.mit.edu	37	13	33684168	33684168	+	Frame_Shift_Del	DEL	G	G	-	rs34251901	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:33684168delG	ENST00000336934.5	-	12	3005	c.2889delC	c.(2887-2889)ccfs	p.P963fs	STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs|STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACCACTGAGGGGGGTGCTT	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27	---	---	---	---					
PDE8A	5151	broad.mit.edu	37	15	85659319	85659325	+	Frame_Shift_Del	DEL	ATTTTTG	ATTTTTG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:85659319_85659325delATTTTTG	ENST00000310298.4	+	17	1756_1762	c.1504_1510delATTTTTG	c.(1504-1512)aafs	p.IFE502fs	PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs|PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	502					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGACTTTGATATTTTTGAACTGGAGGC	0.493													22	55	---	---	---	---					
GEMIN4	50628	broad.mit.edu	37	17	650298	650298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:650298delC	ENST00000576778.1	-	1	2293	c.952delG	c.(952-954)agfs	p.E319fs	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Frame_Shift_Del_p.E330fs			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	330					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	p.E329fs*24(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCAACTCCTCCCCCCACTCC	0.627													11	82	---	---	---	---					
PFN1	5216	broad.mit.edu	37	17	4850039	4850041	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:4850039_4850041delTTC	ENST00000225655.5	-	2	826_828	c.207_209delGAA	c.(205-210)caa>ca	p.QK69del	PFN1_ENST00000574872.1_In_Frame_Del_p.QK33del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	69					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CACCGAACATTTCTGGCCCCCAA	0.562													22	67	---	---	---	---					
NCOR1	9611	broad.mit.edu	37	17	15965099	15965099	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:15965099delG	ENST00000268712.3	-	37	5754	c.5497delC	c.(5497-5499)agfs	p.Q1833fs	NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1833	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCCATCTGGGGTGCAGAA	0.532													17	56	---	---	---	---					
CACNB1	782	broad.mit.edu	37	17	37331578	37331579	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:37331578_37331579delAT	ENST00000394303.3	-	14	1871_1872	c.1664_1665delAT	c.(1663-1665)tfs	p.Y555fs	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	555					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GCTCTTCCTCATAGTCTTCTTC	0.649											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	204	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													3	5	---	---	---	---					
DYRK1B	9149	broad.mit.edu	37	19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:40316612delG	ENST00000593685.1	-	11	2101	c.1633delC	c.(1633-1635)agfs	p.Q545fs	DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	545					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TATCGGGGCTGGGGGGGTAAC	0.692													10	45	---	---	---	---					
CGB5	93659	broad.mit.edu	37	19	49548414	49548414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:49548414delG	ENST00000301408.6	+	3	687	c.361delG	c.(361-363)ggfs	p.G122fs	CGB1_ENST00000391869.3_Intron	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	122					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|pancreas(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	CACTGACTGCGGGGGTCCCAA	0.672													9	16	---	---	---	---					
EMC10	284361	broad.mit.edu	37	19	50985132	50985132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:50985132delG	ENST00000376918.3	+	7	739	c.693delG	c.(691-693)ctfs	p.L231fs	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Intron|EMC10_ENST00000334976.6_Intron	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10									p.A234fs*56(1)									ACATCATCCTGGGGGGGGCCG	0.736													7	5	---	---	---	---					
ZNF616	90317	broad.mit.edu	37	19	52618188	52618188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:52618188delT	ENST00000600228.1	-	4	2490	c.2229delA	c.(2227-2229)aafs	p.K743fs	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P744fs*3(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTTATAAGGTTTTTTGCCAG	0.393													11	85	---	---	---	---					
EFCAB6	64800	broad.mit.edu	37	22	44063044	44063044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:44063044delT	ENST00000262726.7	-	17	2176	c.1923delA	c.(1921-1923)aafs	p.K641fs	EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K489fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	641	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAGAAATCGTTTTTTGAATG	0.408													14	79	---	---	---	---					
MXRA5	25878	broad.mit.edu	37	X	3228603	3228604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:3228603_3228604insG	ENST00000217939.6	-	7	7794_7795	c.7640_7641insC	c.(7639-7641)catfs	p.H2547fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2547	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCGCTGATCGGGTCGTGGAA	0.634													11	5	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38020284	38020284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:38020284delG	ENST00000378533.3	-	6	783	c.677delC	c.(676-678)cafs	p.P226fs	SRPX_ENST00000544439.1_Frame_Shift_Del_p.P206fs|SRPX_ENST00000343800.6_Frame_Shift_Del_p.P213fs|SRPX_ENST00000432886.2_Frame_Shift_Del_p.P167fs|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Frame_Shift_Del_p.P226fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	226	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTTGGAGCCTGGGGGGAGGCC	0.433													30	18	---	---	---	---					
ZNF41	7592	broad.mit.edu	37	X	47315344	47315344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:47315344delC	ENST00000377065.4	-	4	910	c.271delG	c.(271-273)aafs	p.E91fs	ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000313116.7_Frame_Shift_Del_p.E91fs|ZNF41_ENST00000397050.2_Frame_Shift_Del_p.E101fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	133	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGTGGGGCTTCCCCCTCCAGC	0.532													15	5	---	---	---	---					
