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
PGLYRP1	8993	broad.mit.edu	37	19	46522861	46522861	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:46522861C>G	ENST00000008938.4	-	2	375	c.332G>C	c.(331-333)tGg>tCg	p.W111S	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	111					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CGTGAAGTTCCAGCCACGGCC	0.582000													5	180					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2127694	2127694	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:2127694G>A	ENST00000219476.3	+	26	3563	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	TSC2_ENST00000568454.1_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000350773.4_Missense_Mutation_p.R978H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	978					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCCGGTGCCGCAGCATCAGT	0.607000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	414					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7735977	7735977	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:7735977C>T	ENST00000572933.1	+	83	14267	c.12807C>T	c.(12805-12807)agC>agT	p.S4269S	DNAH2_ENST00000389173.2_Silent_p.S4269S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4269					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGGCCAGCCGGGCCCGGC	0.597000													5	486					0	0	1	0	0
C12orf66	144577	broad.mit.edu	37	12	64609707	64609707	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:64609707C>T	ENST00000311915.8	-	2	299	c.272G>A	c.(271-273)cGc>cAc	p.R91H	C12orf66_ENST00000544871.1_Missense_Mutation_p.R38H|C12orf66_ENST00000398055.3_Missense_Mutation_p.R91H			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	91								p.R91H(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						ATAGATGGTGCGGATGGAATC	0.507000													27	96					0	0	1	0	0
EIF2B2	8892	broad.mit.edu	37	14	75472642	75472642	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr14:75472642C>T	ENST00000266126.5	+	5	751	c.671C>T	c.(670-672)gCc>gTc	p.A224V	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	224					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GCCATTTTTGCCGTTATGTCA	0.383000													8	1160					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833885	45833885	+	Missense_Mutation	SNP	C	C	T	rs138586774		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:45833885C>T	ENST00000397928.1	+	20	3519	c.3074C>T	c.(3073-3075)aCg>aTg	p.T1025M	TRPM2_ENST00000397932.2_Missense_Mutation_p.T1025M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1005M|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1025M	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1025						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAGTGGCTGACGGTCCTCCTA	0.637000													38	1242					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101166530	101166530	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101166530C>A	ENST00000370508.5	-	3	404	c.377G>T	c.(376-378)gGa>gTa	p.G126V	GOT1_ENST00000543866.1_Missense_Mutation_p.G105V	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	126					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTTGTTTGTTCCATTGTACCA	0.468000													52	100					6.08268e-21	6.45133e-21	1	1	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													7	117					0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294680	109294680	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:109294680C>T	ENST00000327419.6	+	2	724	c.321C>T	c.(319-321)agC>agT	p.S107S	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	107						integral to membrane		p.S107S(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						ATCACTGCAGCGGCAGCCGCG	0.642000													99	286					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29130542	29130542	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:29130542G>C	ENST00000382580.2	-	2	243	c.168C>G	c.(166-168)agC>agG	p.S56R	CHEK2_ENST00000404276.1_Missense_Mutation_p.S56R|CHEK2_ENST00000328354.6_Missense_Mutation_p.S56R|CHEK2_ENST00000402731.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382566.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382578.1_Missense_Mutation_p.S56R|CHEK2_ENST00000348295.3_Missense_Mutation_p.S56R|CHEK2_ENST00000382565.1_Missense_Mutation_p.S56R|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.S56R|CHEK2_ENST00000403642.1_Missense_Mutation_p.S56R	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	56					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTGTCCCAGAGCTGGAGTGAG	0.562000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					108	295					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946437	16946437	+	RNA	SNP	C	C	T	rs2262202		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082																											AGCCTTCCGCCGGGCCAGCAG	0.672000													5	53					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271674	9271674	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9271674C>T	ENST00000247956.6	+	7	1658	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	ZNF317_ENST00000360385.3_Silent_p.C419C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCGATCTCTGCGGGAAAGCTT	0.547000													41	120					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37273798	37273798	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:37273798G>A	ENST00000248899.6	+	10	1137	c.953G>A	c.(952-954)cGc>cAc	p.R318H	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	318					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCCCAGAAGCGCCTCTTCCCC	0.617000													41	85					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112050059	112050059	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:112050059G>A	ENST00000357685.5	+	2	282	c.147G>A	c.(145-147)cgG>cgA	p.R49R	BCO2_ENST00000526088.1_Silent_p.R15R|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000531169.1_Silent_p.R15R|BCO2_ENST00000393032.2_Silent_p.R15R|BCO2_ENST00000361053.4_Silent_p.R49R|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000438022.1_Silent_p.R15R			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	49					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGCAGTGTCGGGGTCTGCCAT	0.488000													5	402					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229470	7229470	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:7229470G>A	ENST00000379938.2	+	10	1675	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T	RREB1_ENST00000349384.6_Missense_Mutation_p.A380T|RREB1_ENST00000379933.3_Missense_Mutation_p.A380T|RREB1_ENST00000334984.6_Missense_Mutation_p.A380T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	380					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCTGCCCCCGCCGAGGAGCC	0.652000													35	143					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132207849	132207849	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:132207849C>G	ENST00000260818.6	+	31	3700	c.3452C>G	c.(3451-3453)gCt>gGt	p.A1151G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1151							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCAAACAGGCTTTCAAGTCA	0.333000													72	185					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67913803	67913803	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602000													6	192					0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166039919	166039919	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:166039919G>A	ENST00000338353.3	-	3	934	c.345C>T	c.(343-345)taC>taT	p.Y115Y	FAM78B_ENST00000354422.3_Silent_p.Y115Y			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	115										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGTGTTCCCGTACCAAGGGT	0.532000													6	402					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65978666	65978666	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:65978666G>A	ENST00000320580.4	+	4	629	c.596G>A	c.(595-597)cGt>cAt	p.R199H		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	199				Missing (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AGGAGAAAACGTTACAAGAAT	0.488000													6	706					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129265770	129265770	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:129265770C>A	ENST00000287295.3	-	14	1683	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	AIFM1_ENST00000460436.2_Missense_Mutation_p.D146Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.D481Y|AIFM1_ENST00000346424.2_Missense_Mutation_p.D198Y|AIFM1_ENST00000440263.1_Missense_Mutation_p.D133Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	485					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GGGCCCAAATCACTCCTAAGA	0.443000													186	121					2.45686e-96	2.7561e-96	1	1	0
MEF2A	0	broad.mit.edu	37	15	100211761	100211761	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:100211761C>T	ENST00000354410.5	+	5	924	c.295C>T	c.(295-297)Cca>Tca	p.P99S	MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557942.1_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	99					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	p.P99S(3)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GTGCGACAGCCCAGACCCTGA	0.333000													4	97					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													4	354					0	0	1	0	0
PDE6G	5148	broad.mit.edu	37	17	79620284	79620284	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:79620284C>A	ENST00000573076.1	-	2	677	c.202G>T	c.(202-204)Ggg>Tgg	p.G68W	PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000331056.5_Missense_Mutation_p.G18W|PDE6G_ENST00000571224.1_Missense_Mutation_p.G18W|PDE6G_ENST00000571004.1_Missense_Mutation_p.G18W			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	18					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACAGGTCCCCCGGCCACCCTG	0.617000													5	285					0.000602214	0.000602214	1	1	0
ENPP2	0	broad.mit.edu	37	8	120633644	120633644	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:120633644C>T	ENST00000427067.2	-	4	576	c.396G>A	c.(394-396)gtG>gtA	p.V132V	ENPP2_ENST00000522826.1_Silent_p.V136V|ENPP2_ENST00000259486.6_Silent_p.V136V|ENPP2_ENST00000075322.6_Silent_p.V136V			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	136	SMB 2.				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTTTGCAAACCACTTGGTAAT	0.463000													86	201					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253672	134253672	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:134253672G>A	ENST00000524765.1	-	3	5067	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	B3GAT1_ENST00000537389.1_Missense_Mutation_p.R188C|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R175C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R175C			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	175					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGCAGCCAGCGCAGGGCCAGG	0.682000													8	37					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11899817	11899817	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:11899817G>A	ENST00000405977.1	+	3	1035	c.410G>A	c.(409-411)gGa>gAa	p.G137E	BTBD3_ENST00000378226.2_Missense_Mutation_p.G137E|BTBD3_ENST00000399006.2_Missense_Mutation_p.G76E|BTBD3_ENST00000254977.3_Missense_Mutation_p.G76E			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	137	BTB.									breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGGTTGCCAGGACACAAAGTA	0.473000													35	104					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137092622	137092622	+	Splice_Site	SNP	G	G	A	rs79823365		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:137092622G>A	ENST00000453654.1	-	30	2489	c.1951_splice	c.e30+1	p.H650_splice	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Splice_Site_p.H981_splice|DGKI_ENST00000446122.1_Splice_Site_p.H963_splice|DGKI_ENST00000424189.2_Splice_Site_p.H994_splice			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	981					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTACTTACCGTGGTCAAGGA	0.443000													142	365					0	0	1	0	0
ZNF384	0	broad.mit.edu	37	12	6778208	6778208	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:6778208C>T	ENST00000396795.1	-	8	1635	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	ZNF384_ENST00000396801.3_Missense_Mutation_p.A441T|ZNF384_ENST00000355772.4_Missense_Mutation_p.A325T|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000361959.3_Missense_Mutation_p.A441T|ZNF384_ENST00000396799.2_Missense_Mutation_p.A380T|ZNF384_ENST00000319770.3_Missense_Mutation_p.A364T			Q8TF68	ZN384_HUMAN	zinc finger protein 384	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GATGTGTATGCCCGACTGCAG	0.522000			T	"""EWSR1, TAF15 """	ALL								4	195					0	0	1	0	0
TPTEP1	0	broad.mit.edu	37	22	17083077	17083077	+	RNA	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:17083077G>A	ENST00000426585.1	+	0	144																											CTCGCAAGGCGCTTCCCCTTT	0.741000													3	13					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921685	78921685	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:78921685T>G	ENST00000261751.3	-	5	1073	c.962A>C	c.(961-963)cAc>cCc	p.H321P	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	321					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGGCGAGCGGTGGTGCACATT	0.607000													64	156					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000													6	136					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492737	230492737	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:230492737C>T	ENST00000321327.2	-	4	751	c.752G>A	c.(751-753)cGc>cAc	p.R251H	PGBD5_ENST00000525115.1_Missense_Mutation_p.R152H|PGBD5_ENST00000391860.1_Missense_Mutation_p.R106H			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	152						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGGCTGGAGCGGAAGGCCAC	0.617000													63	280					0	0	1	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9307	9307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrM:9307G>A	ENST00000362079.2	+	1	101	c.101G>A	c.(100-102)tGa>tAa	p.34_34ins*						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CCTAGCCATGTGATTTCACTT	0.493000													8	2					0	0	1	0	0
ABHD17A	81926	broad.mit.edu	37	19	1881263	1881263	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000250974.9_Silent_p.C101C|ABHD17A_ENST00000590661.1_Silent_p.C101C	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A									p.C101C(3)									GAACATACATGCAGGAGACGC	0.662000													7	231					0	0	1	0	0
GLUD1P2	0	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													13	135					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567000													5	284					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22546279	22546279	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:22546279C>T	ENST00000424340.1	+	7	2254	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.R659C	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		CTGCGGGGGCCGCTTCCACCC	0.572000													6	731					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18738333	18738333	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:18738333G>A	ENST00000513874.1	-	10	1327	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	396										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGAACTCGCCGCTGTCACTGA	0.542000													80	416					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7686089	7686089	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:7686089C>T	ENST00000358368.4	-	13	1749	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	XAB2_ENST00000534844.1_Missense_Mutation_p.R568H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	571					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCCAGCTTGCGGCCCCCATA	0.627000								Direct reversal of damage;Nucleotide excision repair (NER)					6	177					0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	Missense_Mutation	SNP	G	G	C	rs143919579	by1000genomes	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:132905792G>C	ENST00000409867.1	-	6	938	c.689C>G	c.(688-690)tCt>tGt	p.S230C	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like									p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443000													8	85					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871046	170871046	+	Silent	SNP	A	A	G	rs10592951		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567000													8	109					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413297	178413297	+	Missense_Mutation	SNP	C	C	T	rs62638622		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:178413297C>T	ENST00000231188.5	-	8	2136	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R653H	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	653					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GAAGAGCCTGCGGGCGGCACA	0.642000													4	97					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000													6	346					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244240	233244240	+	Silent	SNP	A	A	G	rs1130342	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244240A>G	ENST00000392027.2	+	4	596	c.327A>G	c.(325-327)aaA>aaG	p.K109K		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	109						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ATGTAGACAAACATGTGCCAG	0.567000													8	117					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738217	110738217	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:110738217G>A	ENST00000331565.4	+	10	1987	c.1502G>A	c.(1501-1503)tGt>tAt	p.C501Y		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	501					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTGGGCTGCTGTGTCTTTGCA	0.637000													107	103					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155205555	155205555	+	Missense_Mutation	SNP	G	G	T	rs80356768		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:155205555G>T	ENST00000428024.2	-	8	1546	c.1044C>A	c.(1042-1044)aaC>aaA	p.N348K	GBA_ENST00000427500.2_Missense_Mutation_p.N386K|GBA_ENST00000536770.1_Missense_Mutation_p.N322K|GBA_ENST00000327247.5_Missense_Mutation_p.N435K|GBA_ENST00000368373.3_Missense_Mutation_p.N435K	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	435			A -> V (in GD).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGTCGACAAAGTTACGCACCC	0.547000									Gaucher disease type I				33	144					4.3181e-19	4.55221e-19	1	1	0
KRT82	3888	broad.mit.edu	37	12	52793858	52793858	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:52793858C>T	ENST00000257974.2	-	5	930	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	285	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis	p.V285M(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCCGTCCACGTCCAGCTCC	0.612000													6	262					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5064981	5064981	+	Silent	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr9:5064981A>G	ENST00000381652.3	+	9	1649	c.1155A>G	c.(1153-1155)aaA>aaG	p.K385K	JAK2_ENST00000539801.1_Silent_p.K385K|JAK2_ENST00000544510.1_Silent_p.K236K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	385					actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACCTCTGTAAAGAAGTAGCAC	0.348000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				68	78					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150891812	150891812	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:150891812G>A	ENST00000261800.5	-	20	11831	c.11819C>T	c.(11818-11820)gCc>gTc	p.A3940V	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3940	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGTGAGGGCTTGTGTCTC	0.607000													47	158					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731000													4	65					0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34969588	34969588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:34969588G>A	ENST00000361534.2	-	11	1007	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	CRYZL1_ENST00000381554.3_Nonsense_Mutation_p.Q266*|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.Q251*|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.Q266*			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	266					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GATAGTACCTGAAGGTTTTCT	0.373000													120	253					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532116	50532116	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:50532116G>A	ENST00000374144.3	+	3	1814	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	C10orf71_ENST00000323868.4_Missense_Mutation_p.R509H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	509										endometrium(1)	1						GTGCGGAAGCGTGTTAAGAGC	0.493000													50	121					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064926	9064926	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9064926G>A	ENST00000397910.4	-	3	22723	c.22520C>T	c.(22519-22521)gCa>gTa	p.A7507V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7509	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						GGTACCCATTGCCGATGTGGC	0.463000													107	257					0	0	1	0	0
RRP7B	0	broad.mit.edu	37	22	42971987	42971987	+	RNA	SNP	T	T	C	rs137064	by1000genomes	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:42971987T>C	ENST00000357802.2	-	0	733																		p.Q59R(1)									CAGCTCTTTTTGGCTGCGCTT	0.672000													4	121					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657000													14	618					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22546277	22546277	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:22546277G>T	ENST00000424340.1	+	7	2252	c.1973G>T	c.(1972-1974)gGc>gTc	p.G658V	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.G658V	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		GTCTGCGGGGGCCGCTTCCAC	0.567000													10	736					0.000442599	0.000445143	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151917775	151917775	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:151917775G>C	ENST00000355193.2	-	23	3763	c.3545C>G	c.(3544-3546)tCa>tGa	p.S1182*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S1182*					lysine (K)-specific methyltransferase 2C																		AGTCATCCCTGATTCAGTCAA	0.368000													77	191					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64413504	64413504	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413504G>C	ENST00000262043.3	+	11	3650	c.3310G>C	c.(3310-3312)Gat>Cat	p.D1104H	PHF3_ENST00000393387.1_Missense_Mutation_p.D1104H			Q92576	PHF3_HUMAN	PHD finger protein 3	1104					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TATGTCTAAAGATACCACTAG	0.363000													29	332					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11783721	11783721	+	Silent	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:11783721G>C	ENST00000337339.2	+	9	1071	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	MSL3_ENST00000398527.2_Silent_p.L336L|MSL3_ENST00000380693.3_Silent_p.L182L|MSL3_ENST00000312196.4_Silent_p.L348L|MSL3_ENST00000361672.2_Silent_p.L199L	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	348					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TGCAGTCTCTGAGGCGGTCCA	0.617000													4	352					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78212618	78212618	+	RNA	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562000													4	158					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42251691	42251691	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:42251691T>G	ENST00000341421.3	+	13	2196	c.2003T>G	c.(2002-2004)gTt>gGt	p.V668G	TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000327628.5_Intron	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTCACCTCTGTTCCAGGCACC	0.512000													405	480					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645418	215645418	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:215645418T>C	ENST00000260947.4	-	4	1314	c.1180A>G	c.(1180-1182)Aca>Gca	p.T394A	BARD1_ENST00000449967.2_Missense_Mutation_p.T250A	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	394					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAGGTGGTGTACCTGGTGAA	0.418000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				47	293					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846006	18846006	+	RNA	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617000													5	282					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139268947	139268947	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:139268947G>A	ENST00000395297.1	-	5	523	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	118										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)			TTCACTGTCCGTAAAGTGCAG	0.458000										HNSCC(54;0.14)			14	194					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524582	10524582	+	Silent	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:10524582T>C	ENST00000396560.2	+	3	332	c.105T>C	c.(103-105)gtT>gtC	p.V35V	ATF7IP2_ENST00000396559.1_Silent_p.V35V|ATF7IP2_ENST00000324570.5_Silent_p.V35V|ATF7IP2_ENST00000356427.2_Silent_p.V35V|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CAAGGAATGTTGAAGCGCTGA	0.413000													89	199					0	0	1	0	0
PCDHGB7	0	broad.mit.edu	37	5	140799542	140799542	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:140799542G>A	ENST00000398594.2	+	1	2116	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCTCCTCGCGGTGATTCT	0.557000													114	214					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31334358	31334358	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:31334358C>A	ENST00000542188.1	-	16	2247	c.1934G>T	c.(1933-1935)aGt>aTt	p.S645I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S606I|TRPM1_ENST00000256552.6_Missense_Mutation_p.S628I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	606					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGGAACCGACTCACGGCAGG	0.517000													40	81					1.06522e-23	1.13667e-23	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13604934	13604934	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:13604934G>A	ENST00000040738.5	-	10	3725	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1197							DNA binding										TCTATGATCGGCATGCTTTTC	0.423000													7	879					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30732996	30732996	+	Missense_Mutation	SNP	C	C	T	rs104893809		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:30732996C>T	ENST00000295754.5	+	7	1991	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	537	Protein kinase.		R -> C (in LDS2B; has a negative effect on TGF-beta signaling; dbSNP:rs28934869).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R537C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGTGGCAGAACGCTTCAGTGA	0.577000													120	129					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													9	778					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27950726	27950726	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:27950726G>A	ENST00000381271.2	+	3	1456	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H		NM_020782.1	NP_065833.1			kelch-like family member 42																		GTCCACATTCGCAAGCAGCAG	0.542000													8	1014					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117079612	117079612	+	Splice_Site	SNP	C	C	T	rs145370185	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:117079612C>T	ENST00000320934.3	-	13	2322		c.e13+1		PCSK7_ENST00000540028.1_Splice_Site	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7						peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGTGTACATACGAGTCCATGC	0.582000			T	IGH@	MLCLS								13	57					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64413449	64413449	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413449G>A	ENST00000262043.3	+	11	3595	c.3255G>A	c.(3253-3255)ttG>ttA	p.L1085L	PHF3_ENST00000393387.1_Silent_p.L1085L			Q92576	PHF3_HUMAN	PHD finger protein 3	1085					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAAGTCATTGGAGAAGCCAG	0.353000													30	240					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64412409	64412409	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64412409G>T	ENST00000262043.3	+	10	3451	c.3111G>T	c.(3109-3111)atG>atT	p.M1037I	PHF3_ENST00000393387.1_Missense_Mutation_p.M1037I			Q92576	PHF3_HUMAN	PHD finger protein 3	1037	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCATAGAAATGATTGAGAAAG	0.308000													38	207					3.76114e-14	3.91785e-14	1	1	0
LPIN1	23175	broad.mit.edu	37	2	11935562	11935562	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:11935562G>A	ENST00000256720.2	+	13	1820	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	LPIN1_ENST00000449576.2_Missense_Mutation_p.G661D|LPIN1_ENST00000396097.1_Missense_Mutation_p.G306D|LPIN1_ENST00000425416.2_Missense_Mutation_p.G582D|LPIN1_ENST00000404113.2_Missense_Mutation_p.G77D|LPIN1_ENST00000396099.1_Missense_Mutation_p.G618D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	576					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCTTGGCTGGCAAGGCCCAT	0.557000													5	363					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100622524	100622524	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr13:100622524C>T	ENST00000267294.4	-	1	1639	c.1406G>A	c.(1405-1407)gGc>gAc	p.G469D		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	469					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAGGGCTTGCCCTCGCGCGG	0.637000													5	413					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48462686	48462686	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:48462686C>T	ENST00000358536.4	-	8	2030	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	PLXNB1_ENST00000456774.1_Missense_Mutation_p.M587I|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.M587I|PLXNB1_ENST00000296440.6_Missense_Mutation_p.M587I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	587					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGAGGGGCACATCACACCAG	0.642000													149	179					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCAGTACCGCATGACGGAG	0.393000													9	1201					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63665747	63665747	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:63665747A>G	ENST00000402010.2	+	4	911	c.332A>G	c.(331-333)aAc>aGc	p.N111S	MARK2_ENST00000413835.2_Missense_Mutation_p.N111S|MARK2_ENST00000502399.3_Missense_Mutation_p.N111S|MARK2_ENST00000315032.8_Missense_Mutation_p.N111S|MARK2_ENST00000509502.2_Missense_Mutation_p.N78S|MARK2_ENST00000508192.1_Missense_Mutation_p.N111S|MARK2_ENST00000350490.7_Missense_Mutation_p.N111S|MARK2_ENST00000361128.5_Missense_Mutation_p.N111S|MARK2_ENST00000425897.2_Missense_Mutation_p.N78S|MARK2_ENST00000377810.3_Missense_Mutation_p.N78S|MARK2_ENST00000513765.2_Missense_Mutation_p.N78S|MARK2_ENST00000408948.3_Missense_Mutation_p.N78S|MARK2_ENST00000377809.4_Missense_Mutation_p.N111S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	111	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AATCATCCCAACATAGGTGAG	0.478000													173	502					0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186423581	186423581	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:186423581G>A	ENST00000284770.5	-	8	1035	c.962C>T	c.(961-963)gCc>gTc	p.A321V	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A273V	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	321	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GTTGCAGTCGGCACACACGAA	0.557000													7	576					0	0	1	0	0
GABBR1	0	broad.mit.edu	37	6	29581055	29581055	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:29581055G>A	ENST00000377034.4	-	12	1866	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	GABBR1_ENST00000377016.4_Missense_Mutation_p.R449W|GABBR1_ENST00000376977.3_Missense_Mutation_p.R511W|GABBR1_ENST00000377012.4_Missense_Mutation_p.R394W|GABBR1_ENST00000355973.3_Missense_Mutation_p.R394W	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	511					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TTCATTGCCCGGTAGATTTGG	0.527000													6	448					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159856380	159856380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:159856380G>A	ENST00000426543.2	-	6	888	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Nonsense_Mutation_p.Q230*			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	230						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)			TCCATCATCTGATCCAACCGC	0.483000													105	1195					0	0	1	0	0
TRGV2	0	broad.mit.edu	37	7	38402510	38402510	+	RNA	SNP	T	T	A	rs3999869		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:38402510T>A	ENST00000426402.2	-	0	498																											CATTTTCAATTAGATTTCGCA	0.463000													6	281					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37125474	37125474	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:37125474C>G	ENST00000274258.7	-	46	8949	c.5362G>C	c.(5362-5364)Gac>Cac	p.D1788H	C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000508244.1_Missense_Mutation_p.D2890H|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2890H			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2890										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTCCTTGTCAGTTCTTTGT	0.348000													13	411					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													7	77					0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163510311	163510311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:163510311C>T	ENST00000337019.3	+	5	708	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.R162*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.R162*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	162								p.R162*(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CCTCCGAAACCGACAGGTCAT	0.453000													128	164					0	0	1	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75928804	75928804	+	Silent	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:75928804G>C	ENST00000262207.4	+	7	1200	c.732G>C	c.(730-732)ggG>ggC	p.G244G	CRISPLD1_ENST00000517786.1_Silent_p.G58G|CRISPLD1_ENST00000523524.1_Silent_p.G56G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	244						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAACAGAAGGGTCAGACAGGT	0.353000													60	419					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728170	20728170	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:20728170G>C	ENST00000427401.4	-	4	933	c.839C>G	c.(838-840)aCt>aGt	p.T280S		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	280					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCAGTATGAATTAT	0.413000													6	296					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179253838	179253838	+	Silent	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:179253838T>C	ENST00000190611.4	+	21	2635	c.2259T>C	c.(2257-2259)aaT>aaC	p.N753N	OSBPL6_ENST00000409631.1_Silent_p.N717N|OSBPL6_ENST00000409045.3_Silent_p.N722N|OSBPL6_ENST00000392505.2_Silent_p.N778N|OSBPL6_ENST00000315022.2_Silent_p.N757N|OSBPL6_ENST00000359685.3_Silent_p.N717N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	753					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCATCAGAAATACCAAAAGCA	0.348000													73	157					0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3162865	3162865	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:3162865G>A	ENST00000262958.3	+	7	1231	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	325					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CGGGTGCGTGGACGGCCCCGA	0.597000											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	76	157					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573306	41573306	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:41573306C>G	ENST00000263253.7	+	31	6810	c.5591C>G	c.(5590-5592)aCc>aGc	p.T1864S	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1864					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAACAGCCAACCACCCCGCAG	0.642000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				74	215					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204923462	204923462	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:204923462G>A	ENST00000367172.4	+	6	690	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NFASC_ENST00000513543.1_Missense_Mutation_p.R115H|NFASC_ENST00000539706.1_Missense_Mutation_p.R115H|NFASC_ENST00000367171.4_Missense_Mutation_p.R121H|NFASC_ENST00000338586.6_Missense_Mutation_p.R121H|NFASC_ENST00000403080.1_Missense_Mutation_p.R121H|NFASC_ENST00000360049.4_Missense_Mutation_p.R115H|NFASC_ENST00000338515.6_Missense_Mutation_p.R121H|NFASC_ENST00000404907.1_Missense_Mutation_p.R115H|NFASC_ENST00000339876.6_Missense_Mutation_p.R121H|NFASC_ENST00000401399.1_Missense_Mutation_p.R121H|NFASC_ENST00000367170.4_Missense_Mutation_p.R121H|NFASC_ENST00000367169.4_Missense_Mutation_p.R121H|NFASC_ENST00000404076.1_Missense_Mutation_p.R115H			O94856	NFASC_HUMAN	neurofascin	121	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCTTCGCCCGCAACAAATTT	0.607000													5	160					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112632807	112632807	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:112632807G>A	ENST00000550722.1	-	56	8588	c.8193C>T	c.(8191-8193)atC>atT	p.I2731I	HECTD4_ENST00000430131.2_Silent_p.I2455I|HECTD4_ENST00000377560.5_Silent_p.I2705I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCGGGGCGAAGATATTGAGCA	0.597000													20	61					0	0	1	0	0
RCAN3	11123	broad.mit.edu	37	1	24859625	24859625	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:24859625C>G	ENST00000374395.4	+	4	735	c.422C>G	c.(421-423)cCt>cGt	p.P141R	RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.P83R|RCAN3_ENST00000436717.2_Missense_Mutation_p.P131R|RCAN3_ENST00000374393.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	141					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CCGCCCCAGCCTGTCAAGCAG	0.567000													88	63					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	137					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202864825	202864825	+	Silent	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:202864825A>T	ENST00000367261.3	-	8	1178	c.960T>A	c.(958-960)cgT>cgA	p.R320R	KLHL12_ENST00000367259.1_Silent_p.R53R|KLHL12_ENST00000435533.3_Silent_p.R358R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	320					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGCCACATAACGTCTCTTAC	0.483000													5	225					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24646110	24646110	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:24646110C>T	ENST00000376862.3	+	4	1380	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	249					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGGCCCTCATCGCCTACCTCT	0.647000													210	321					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64413463	64413463	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413463G>A	ENST00000262043.3	+	11	3609	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E	PHF3_ENST00000393387.1_Missense_Mutation_p.G1090E			Q92576	PHF3_HUMAN	PHD finger protein 3	1090					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGCCAGAAGGATCTGAAAAA	0.368000													32	260					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													4	156					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													10	190					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:22661206T>C	ENST00000426066.1	+	0	298					NR_027293.1																						AGCTGAATCATGCAGAATTTG	0.408000													5	197					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533850	55533850	+	Silent	SNP	C	C	T	rs141074157		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:55533850C>T	ENST00000220676.1	+	2	472	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	108	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATGTTCCCACGGCAGGAAGG	0.682000													141	268					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601178	75601178	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:75601178C>T	ENST00000549446.1	-	2	1266	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	KCNC2_ENST00000350228.2_Missense_Mutation_p.A196T|KCNC2_ENST00000341669.3_Missense_Mutation_p.A196T|KCNC2_ENST00000540018.1_Missense_Mutation_p.A196T|KCNC2_ENST00000548513.1_Missense_Mutation_p.A196T|KCNC2_ENST00000298972.1_Missense_Mutation_p.A196T|KCNC2_ENST00000393288.2_Missense_Mutation_p.A196T|KCNC2_ENST00000550433.1_Missense_Mutation_p.A196T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	196					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCGAGCCCCGCCGCGTCCTCG	0.716000													13	33					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													7	637					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71200877	71200877	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:71200877A>G	ENST00000273936.4	+	1	180	c.121A>G	c.(121-123)Att>Gtt	p.I41V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	41						flagellum	calcium ion binding	p.I41V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAAACAACTATTACTTCAGA	0.368000													12	528					0	0	1	0	0
HLA-DRB6	0	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs114905475	by1000genomes	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1																						TGGGTCTTTGCAGGATACACA	0.488000													12	14					2.35188e-11	2.4069e-11	1	1	0
ABCC2	1244	broad.mit.edu	37	10	101563916	101563916	+	Silent	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101563916A>G	ENST00000370449.4	+	10	1463	c.1350A>G	c.(1348-1350)ttA>ttG	p.L450L		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	450	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGATTGTCTTATCTATCTTCT	0.463000													50	242					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186017951	186017951	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:186017951A>T	ENST00000271588.4	+	42	6786	c.6557A>T	c.(6556-6558)aAc>aTc	p.N2186I	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2186I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2186	Ig-like C2-type 19.				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						ACTGAAAAAAACTACAATGTC	0.358000													34	404					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37728914	37728914	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:37728914C>A	ENST00000330843.4	-	4	3418	c.3406G>T	c.(3406-3408)Gct>Tct	p.A1136S	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1136					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.A1136T(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACTCTACCAGCGGAGCCCTCT	0.542000											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	153	428					2.23979e-65	2.46517e-65	1	1	0
KRTAP11-1	0	broad.mit.edu	37	21	32253686	32253686	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:32253686A>G	ENST00000332378.4	-	1	188	c.158T>C	c.(157-159)cTg>cCg	p.L53P		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	53						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAGTGGTCCAGGAGCCAAGA	0.567000													48	182					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			48	170					1.04682e-39	1.13785e-39	1	1	0
RNF169	254225	broad.mit.edu	37	11	74521280	74521280	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:74521280A>T	ENST00000299563.4	+	3	641	c.628A>T	c.(628-630)Aag>Tag	p.K210*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	210							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TCAAATCCACAAGCTGTTACC	0.348000													5	417					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4910731	4910731	+	RNA	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:4910731C>A	ENST00000592666.1	+	0	566							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GTGTCTGGTCCTGGCCAGGGT	0.502000													17	26					1.37285e-15	1.43862e-15	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17295729	17295729	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:17295729G>A	ENST00000595618.1	+	17	2581	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H|MYO9B_ENST00000594824.1_Missense_Mutation_p.R810H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	810	Myosin head-like.				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	p.R810H(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGCACGACCGCACCACCAAG	0.582000													5	423					0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478409	141478409	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:141478409A>G	ENST00000247881.2	+	1	168	c.121A>G	c.(121-123)Atc>Gtc	p.I41V	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	41					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AAGCCATAGAATCTCCTCTTC	0.383000													154	421					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	260										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ACCCTGTGCCGGAGATAATGG	0.502000													5	367					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150940315	150940315	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:150940315C>T	ENST00000271688.6	-	5	835	c.449G>A	c.(448-450)gGc>gAc	p.G150D	CERS2_ENST00000368954.5_Missense_Mutation_p.G150D|CERS2_ENST00000561294.1_Missense_Mutation_p.G141D|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	150	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GACGGCCATGCCGGCAATGAA	0.537000													6	545					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48591891	48591891	+	Nonsense_Mutation	SNP	G	G	T	rs121912581		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:48591891G>T	ENST00000342988.3	+	9	1592	c.1054G>T	c.(1054-1056)Gga>Tga	p.G352*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	352	MH2.		G -> R (in JP/HHT and JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TACTGTTGATGGATACGTGGA	0.443000													112	184					1.4093e-69	1.57088e-69	1	1	0
F5	2153	broad.mit.edu	37	1	169510549	169510549	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:169510549G>A	ENST00000367796.3	-	13	3995	c.3794C>T	c.(3793-3795)cCa>cTa	p.P1265L	F5_ENST00000367797.3_Missense_Mutation_p.P1260L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1260	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACTGAGTTCTGGAGAGAGGTT	0.512000													416	1120					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85384098	85384098	+	Silent	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:85384098C>A	ENST00000258888.5	+	5	2361	c.2194C>A	c.(2194-2196)Cgg>Agg	p.R732R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	732					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCCCTGCCCGGCGGAGACA	0.647000													57	110					5.22555e-25	5.61026e-25	1	1	0
TPTE2P6	0	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													4	231					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227596	28227596	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:28227596C>T	ENST00000343684.3	+	1	499	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	149										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TAGATTCTGACGAACATACCC	0.512000													181	487					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901569	40901569	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:40901569C>T	ENST00000324001.7	-	7	2960	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	897					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAGGGCACTCGGAAGCCCAC	0.612000													98	295					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621570	43621570	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:43621570G>C	ENST00000305641.5	-	1	1233	c.1118C>G	c.(1117-1119)gCa>gGa	p.A373G	LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	373					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AAATCCTCCTGCACTGAGAAT	0.547000													67	141					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557000													6	511					0	0	1	0	0
NOL7	51406	broad.mit.edu	37	6	13620462	13620462	+	Missense_Mutation	SNP	G	G	A	rs143778341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:13620462G>A	ENST00000451315.2	+	6	555	c.523G>A	c.(523-525)Gta>Ata	p.V175I	NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Missense_Mutation_p.T105M	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	175						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			CTACTTGGCCGTAAGGCTAAA	0.383000													5	309					0	0	1	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458724	53458724	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:53458724G>T	ENST00000331173.4	-	1	631	c.586C>A	c.(586-588)Cat>Aat	p.H196N	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	196					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGTGTGACATGTATCTTCCGA	0.512000													94	195					1.55521e-42	1.70101e-42	1	1	0
AC006293.3	0	broad.mit.edu	37	19	55220640	55220640	+	RNA	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:55220640C>T	ENST00000413439.1	+	0	778																											CTGGTCAGAGCGCAGCGAGCC	0.607000													30	87					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564572	37564572	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:37564572G>A	ENST00000300651.6	-	17	4125	c.3902C>T	c.(3901-3903)cCg>cTg	p.P1301L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1301	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGTCAAGGACGGCTTCTTGTT	0.522000										HNSCC(31;0.082)			101	236					0	0	1	0	0
STAG3L4	0	broad.mit.edu	37	7	66785098	66785098	+	RNA	SNP	A	A	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:66785098A>C	ENST00000416602.2	+	0	728					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGCTGCATTAATACTACATTG	0.368000													40	234					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244230	233244230	+	Missense_Mutation	SNP	A	A	G	rs1130341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244230A>G	ENST00000392027.2	+	4	586	c.317A>G	c.(316-318)aAt>aGt	p.N106S		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	106						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGACATACAATGTAGACAAA	0.577000													7	115					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57899466	57899466	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:57899466C>T	ENST00000337938.2	+	5	1055	c.669C>T	c.(667-669)ctC>ctT	p.L223L	EDN3_ENST00000371028.2_Silent_p.L223L|EDN3_ENST00000395654.3_Silent_p.L209L|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000311585.7_3'UTR	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	223					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GACTCGCCCTCGCTCCATCTA	0.592000													8	692					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41741051	41741051	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:41741051G>T	ENST00000400454.1	-	4	1107	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	210	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGCGCTGTTGCTCTGCCTCG	0.438000													9	326					3.86212e-05	3.92948e-05	1	1	0
SNX27	81609	broad.mit.edu	37	1	151634647	151634647	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:151634647C>T	ENST00000368843.3	+	5	927	c.807C>T	c.(805-807)taC>taT	p.Y269Y	SNX27_ENST00000458013.2_Silent_p.Y269Y|SNX27_ENST00000368838.1_Silent_p.Y176Y	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	269	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCAGAACTACAATGGTGTGT	0.418000													47	175					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48591892	48591892	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:48591892G>T	ENST00000342988.3	+	9	1593	c.1055G>T	c.(1054-1056)gGa>gTa	p.G352V	SMAD4_ENST00000398417.2_Missense_Mutation_p.G352V|SMAD4_ENST00000588745.1_Missense_Mutation_p.G256V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	352	MH2.		G -> R (in JP/HHT and JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ACTGTTGATGGATACGTGGAC	0.443000													114	181					4.61678e-68	5.11353e-68	1	1	0
ELMOD3	84173	broad.mit.edu	37	2	85617280	85617280	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:85617280A>C	ENST00000315658.7	+	11	1094	c.835A>C	c.(835-837)Aag>Cag	p.K279Q	ELMOD3_ENST00000409013.3_Missense_Mutation_p.K279Q|ELMOD3_ENST00000393852.4_Missense_Mutation_p.K279Q|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Missense_Mutation_p.K279Q|ELMOD3_ENST00000409344.3_Missense_Mutation_p.K279Q	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	279	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TCGGCAGCAGAAGGTCATCCC	0.567000													9	326					0	0	1	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3434742	3434742	+	Silent	SNP	G	G	A	rs112696062	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:3434742G>A	ENST00000396852.4	-	6	1258	c.951C>T	c.(949-951)taC>taT	p.Y317Y	ZSCAN32_ENST00000396846.3_Silent_p.Y317Y|ZSCAN32_ENST00000439568.2_Silent_p.Y28Y|ZSCAN32_ENST00000304926.3_Silent_p.Y105Y|ZSCAN32_ENST00000573830.1_Silent_p.Y28Y|ZSCAN32_ENST00000422427.2_Silent_p.Y105Y|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000574940.1_Silent_p.Y317Y					zinc finger and SCAN domain containing 32																		TCACTTTGCGGTAACTCAACT	0.547000													6	847					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccg>cc	p.PQ1326del	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1326					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								10	332	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													8	800	---	---	---	---					
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)agt>a	p.IS84del	NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTGAAAATACTTATTATTATTAT	0.305													7	164	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													8	59	---	---	---	---					
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)del	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													8	638	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCT	rs58327065		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:154842199_154842200insGCT	ENST00000271915.3	-	1	556_557	c.241_242insAGC	c.(241-243)acc>AGCacc	p.80_81insS		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													9	44	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)del	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571													9	696	---	---	---	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)del	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													12	588	---	---	---	---					
MLK4	0	broad.mit.edu	37	1	233482283	233482283	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:233482283delA	ENST00000366624.3	+	2	1162	c.901delA	c.(901-903)aafs	p.K301fs	MLK4_ENST00000366623.3_Frame_Shift_Del_p.K301fs	NM_032435.2	NP_115811.2																					CAGGACCACCAAAATGAGCAC	0.453													89	345	---	---	---	---					
AC019118.2	0	broad.mit.edu	37	2	2910768	2910769	+	RNA	INS	-	-	T	rs142585959	by1000genomes	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:2910768_2910769insT	ENST00000457478.1	-	0	594																											tccaccccctctcccCAGCCCA	0.698													3	4	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													7	260	---	---	---	---					
FASTKD1	79675	broad.mit.edu	37	2	170411659	170411660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:170411659_170411660insA	ENST00000453153.2	-	7	1534_1535	c.1188_1189insT	c.(1186-1191)ttcgaafs	p.E397fs	FASTKD1_ENST00000453929.2_Frame_Shift_Ins_p.E397fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	397					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CTAAGTTTCGCAAAAAACTCCT	0.302													87	243	---	---	---	---					
EVX2	344191	broad.mit.edu	37	2	176945342	176945368	+	In_Frame_Del	DEL	AGCCGCGGCCGCCGCGCCTGAGGCTGC	AGCCGCGGCCGCCGCGCCTGAGGCTGC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENST00000308618.4	-	3	1034_1060	c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	c.(898-924)del	p.AASGAAAAA300del		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	300	Poly-Ala.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGGGCGACGAAgccgcggccgccgcgcctgaggctgcagccgcggcc	0.731													13	35	---	---	---	---					
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:234394236_234394237insT	ENST00000251722.6	-	30	3558_3559	c.3441_3442insA	c.(3439-3444)aaaagafs	p.R1148fs	USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		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;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337													7	250	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atc>a	p.IL15del		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	15					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													9	347	---	---	---	---					
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:66436625_66436627delGCT	ENST00000383703.3	-	14	2242_2244	c.1639_1641delAGC	c.(1639-1641)del	p.S548del	LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547													7	904	---	---	---	---					
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:85611708_85611709delCA	ENST00000322366.6	-	60	9669_9670	c.9262_9263delTG	c.(9262-9264)gfs	p.W3088fs	WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3105						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.510													7	384	---	---	---	---					
PDGFRB	5159	broad.mit.edu	37	5	149510155	149510156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:149510155_149510156insC	ENST00000261799.4	-	9	1782_1783	c.1313_1314insG	c.(1312-1314)gcgfs	p.A438fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	438	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGCCCCGGCCACGACAGCG	0.614			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	679	---	---	---	---					
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:156535948_156535950delAGC	ENST00000307851.4	-	1	775_777	c.45_47delGCT	c.(43-48)cta>ct	p.LL17del	HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	17						integral to membrane		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438													8	237	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1																						GGACTAGGAGAAAAAAAGGTA	0.517													21	78	---	---	---	---					
PHF3	23469	broad.mit.edu	37	6	64394097	64394097	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64394097delA	ENST00000262043.3	+	4	814	c.474delA	c.(472-474)acfs	p.T158fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs			Q92576	PHF3_HUMAN	PHD finger protein 3	158					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTAACACAAAAAAAGCAT	0.383													7	1108	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs10951154	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)cac>ca	p.HR72del	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	72	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	258	---	---	---	---					
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)del	p.L20del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749													8	73	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150817	65150817	+	RNA	DEL	C	C	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:65150817delC	ENST00000430126.2	+	0	757																											TCATCCCTCACCCCCCCCCCC	0.468													8	41	---	---	---	---					
STAU2	27067	broad.mit.edu	37	8	74507470	74507471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:74507470_74507471insT	ENST00000355780.5	-	10	1213_1214	c.995_996insA	c.(994-996)agcfs	p.S332fs	STAU2_ENST00000521210.1_Frame_Shift_Ins_p.S260fs|STAU2_ENST00000521451.1_Frame_Shift_Ins_p.S144fs|STAU2_ENST00000519961.1_Frame_Shift_Ins_p.S364fs|STAU2_ENST00000522509.1_Frame_Shift_Ins_p.S332fs|STAU2_ENST00000524300.1_Frame_Shift_Ins_p.S364fs|STAU2_ENST00000517542.1_Frame_Shift_Ins_p.S326fs|STAU2_ENST00000521727.1_Frame_Shift_Ins_p.S344fs|STAU2_ENST00000522695.1_Frame_Shift_Ins_p.S332fs|STAU2_ENST00000523558.1_Frame_Shift_Ins_p.S192fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CTTCTGCAGCATTTTTTTTGGC	0.327													7	349	---	---	---	---					
MYC	4609	broad.mit.edu	37	8	128748845	128748845	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:128748845delT	ENST00000377970.2	+	1	516	c.6delT	c.(4-6)gafs	p.D2fs	MYC_ENST00000259523.6_5'UTR|MYC_ENST00000524013.1_Frame_Shift_Del_p.D2fs	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	0					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AGACGCTGGATTTTTTTCGGG	0.493		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	2305	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													7	265	---	---	---	---					
ZNF705E	0	broad.mit.edu	37	11	71529621	71529622	+	RNA	INS	-	-	A	rs2363747		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:71529621_71529622insA	ENST00000525199.1	-	0	307																											TAAAAGAAAAGAAAAAAAAAGA	0.356													3	6	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972048	57972048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:57972048delG	ENST00000455537.2	+	23	2735	c.2461delG	c.(2461-2463)ggfs	p.G822fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	822					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGAAGACAGTGGGGGGATTCA	0.502													7	797	---	---	---	---					
ABCC4	10257	broad.mit.edu	37	13	95696015	95696016	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr13:95696015_95696016insT	ENST00000376887.4	-	29	3769_3770	c.3655_3656insA	c.(3655-3657)ccgfs	p.P1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Ins_p.P1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTTCTCCCGGATTTTTTTTTGT	0.376													8	500	---	---	---	---					
DAAM1	23002	broad.mit.edu	37	14	59793694	59793695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr14:59793694_59793695insA	ENST00000395125.1	+	11	1380_1381	c.1357_1358insA	c.(1357-1359)aaafs	p.K453fs	DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.K453fs|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.K453fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	453					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGAACAAGCGGAAAAAATGAGA	0.342													101	336	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tca>tc	p.SS360del	FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													7	182	---	---	---	---					
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aagactfs	p.T895fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.460													12	637	---	---	---	---					
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)acfs	p.T226fs	CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		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;9.42e-05)|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)		GCTCCCGGGACCCGGCGGCAC	0.632													9	705	---	---	---	---					
ELAVL3	1995	broad.mit.edu	37	19	11577604	11577605	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:11577604_11577605insC	ENST00000359227.3	-	2	471_472	c.47_48insG	c.(46-48)gccfs	p.A16fs	CTC-398G3.6_ENST00000585656.1_Frame_Shift_Ins_p.A170fs|ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.A16fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ggccggccgggcccccccccAC	0.649													7	87	---	---	---	---					
TBC1D17	79735	broad.mit.edu	37	19	50385330	50385331	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:50385330_50385331insC	ENST00000221543.5	+	6	859_860	c.560_561insC	c.(559-561)tccfs	p.S187fs	TBC1D17_ENST00000535102.2_Frame_Shift_Ins_p.S154fs	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	187						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TACCTTGTCTTCCCCCACGACT	0.629													8	1874	---	---	---	---					
LILRB2	0	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:54780707_54780709delGAG	ENST00000391748.1	-	10	1559_1561	c.1432_1434delCTC	c.(1432-1434)del	p.L478del	LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													10	517	---	---	---	---					
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtg>gt	p.VE150del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	150					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547													7	816	---	---	---	---					
ZMYND8	23613	broad.mit.edu	37	20	45875071	45875072	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:45875071_45875072insT	ENST00000311275.7	-	14	2157_2158	c.1904_1905insA	c.(1903-1905)accfs	p.T635fs	ZMYND8_ENST00000355972.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000372023.3_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000458360.2_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000536340.1_Frame_Shift_Ins_p.T662fs|ZMYND8_ENST00000352431.2_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000471951.2_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000360911.3_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Ins_p.T572fs|ZMYND8_ENST00000540497.1_Frame_Shift_Ins_p.T583fs|ZMYND8_ENST00000262975.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000396281.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000468376.2_5'UTR			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAGGCTTGGGCTTTTTTTTAAC	0.490													8	962	---	---	---	---					
TUBB1	81027	broad.mit.edu	37	20	57599154	57599155	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:57599154_57599155delTC	ENST00000217133.1	+	4	941_942	c.672_673delTC	c.(670-675)gatcfs	p.DL224fs		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	224					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCTATGGGGATCTCAACCACCT	0.554													12	621	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													9	32	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17119421	17119422	+	RNA	INS	-	-	ATTT			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:17119421_17119422insATTT	ENST00000426585.1	+	0	280																											TTTATCTTTGCatttatttatt	0.351													12	40	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			13	21	---	---	---	---