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
ABCA4	24	broad.mit.edu	37	1	94506793	94506793	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:94506793T>C	ENST00000370225.3	-	23	3580	c.3494A>G	c.(3493-3495)aAc>aGc	p.N1165S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1165					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTCTGGATGTTTTTCATCTT	0.562000													9	107					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611624	50611624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:50611624C>A	ENST00000444124.2	-	2	360	c.160G>T	c.(160-162)Gag>Tag	p.E54*	DDC_ENST00000426377.1_Nonsense_Mutation_p.E54*|DDC_ENST00000431062.1_Nonsense_Mutation_p.E54*|DDC_ENST00000380984.4_Nonsense_Mutation_p.E54*|DDC_ENST00000357936.5_Nonsense_Mutation_p.E54*	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	54					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATGATGTCCTCAAACGTGTCT	0.562000													84	176					1.19472e-48	1.41681e-48	1	1	0
CXorf67	340602	broad.mit.edu	37	X	51150063	51150063	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:51150063C>T	ENST00000342995.2	+	1	297	c.195C>T	c.(193-195)gcC>gcT	p.A65A						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCAGCACAGCCGGTTCTTCCG	0.637000													5	31					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062328	53062328	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:53062328A>T	ENST00000276480.7	-	16	2699	c.2016T>A	c.(2014-2016)taT>taA	p.Y672*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	672						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTTTGCTATAGTTGATAG	0.443000													8	76					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380358	108380358	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:108380358T>C	ENST00000265843.4	-	6	5986	c.5876A>G	c.(5875-5877)tAt>tGt	p.Y1959C	EXPH5_ENST00000443411.1_Missense_Mutation_p.Y1771C|EXPH5_ENST00000428840.1_Missense_Mutation_p.Y1883C|EXPH5_ENST00000525344.1_Missense_Mutation_p.Y1952C	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1959					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTCATCCTCATAGATATTAAG	0.448000													68	143					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32740034	32740034	+	Splice_Site	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:32740034C>T	ENST00000333070.4	+	2	204	c.105_splice	c.e2+1	p.T35_splice	LCK_ENST00000336890.5_Splice_Site_p.T35_splice|LCK_ENST00000373564.3_Splice_Site_p.T35_splice	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	35	Interactions with CD4 and CD8 (By similarity).			T -> R (in Ref. 2; AAA59502).	activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGCAAGGGCACGGTAAGAGGC	0.532000			T	TRB@	T-ALL								28	70					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22056762	22056762	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr18:22056762G>A	ENST00000256906.4	+	3	509	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	137						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TACTCTGATGGTGGCCGTTTG	0.388000													43	113					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	100011184	100011184	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:100011184A>G	ENST00000289371.5	+	21	3294	c.3092A>G	c.(3091-3093)tAt>tGt	p.Y1031C		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1031					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTTTAGGTATGCAGTAATT	0.338000													48	166					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													4	58					0	0	1	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382142	101382142	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:101382142A>T	ENST00000372780.1	+	3	559	c.340A>T	c.(340-342)Agt>Tgt	p.S114C	TCEAL2_ENST00000329035.2_Missense_Mutation_p.S114C	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						agagccagagagtgagggaga	0.537000													51	101					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840355	1840355	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:1840355C>A	ENST00000331238.5	-	2	779	c.761G>T	c.(760-762)gGc>gTc	p.G254V		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	254					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGGGGTTGCCGTTGAGGCG	0.682000													19	19					4.35082e-09	4.73471e-09	1	1	0
TMEM54	113452	broad.mit.edu	37	1	33363922	33363922	+	Splice_Site	SNP	T	T	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:33363922T>A	ENST00000373463.3	-	2	136		c.e2-2		TMEM54_ENST00000475208.1_Splice_Site|TMEM54_ENST00000329151.5_Splice_Site	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54							integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCAGGCCTCCTGTGGGGGACA	0.602000													31	70					0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45877295	45877295	+	Silent	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:45877295G>T	ENST00000291592.4	+	2	1085	c.768G>T	c.(766-768)ggG>ggT	p.G256G		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	256						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCCCGGGGCCCTAGCGCC	0.637000													6	94					5.18039e-06	5.50789e-06	1	1	0
FAT2	2196	broad.mit.edu	37	5	150922100	150922100	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:150922100A>G	ENST00000261800.5	-	9	8600	c.8588T>C	c.(8587-8589)cTt>cCt	p.L2863P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2863	Cadherin 25.				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)			CTCACAGTCAAGTTCCTGGAG	0.532000													28	159					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741197	140741197	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:140741197C>T	ENST00000522605.1	+	1	1495	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAAGCCGCGGGAGATTTT	0.617000													20	123					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:7576852C>T	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(24)|p.0?(8)|p.I332fs*49(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)		AGACTTAGTACCTGAAGGGTG	0.458000		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)			66	68					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101674	168101674	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:168101674G>A	ENST00000409195.1	+	9	3861	c.3772G>A	c.(3772-3774)Gat>Aat	p.D1258N	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1036N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1258N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1083					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAAGAAGGTGATGAATGTGT	0.338000													15	194					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62488775	62488775	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:62488775G>A	ENST00000301785.5	-	9	1795	c.1603C>T	c.(1603-1605)Ctt>Ttt	p.L535F	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.L535F	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	535					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCTGATCAAGAATAAAGTTC	0.428000													20	472					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863042	154863042	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:154863042C>T	ENST00000287907.2	+	1	1009	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	145						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTCCATCACGCGCCACATGGA	0.632000													30	106					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:176738746G>T	ENST00000367662.3	+	16	5491	c.4327G>T	c.(4327-4329)Gaa>Taa	p.E1443*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTAGAAGGAAATTCTGCT	0.453000													26	77					7.92952e-12	8.89068e-12	1	1	0
SLC13A2	9058	broad.mit.edu	37	17	26817912	26817912	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:26817912G>C	ENST00000444914.3	+	4	1129	c.709G>C	c.(709-711)Gtg>Ctg	p.V237L	SLC13A2_ENST00000545060.1_Missense_Mutation_p.V145L|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V117L|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V188L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	188						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGAAGGAGGTGACCAAGCT	0.582000													10	43					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096196	167096196	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:167096196G>A	ENST00000361200.2	+	6	1994	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	DUSP27_ENST00000271385.5_Missense_Mutation_p.E610K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E610K|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	610					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGGTGGTGGAGCTCAGCAA	0.602000													5	49					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6749986	6749986	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:6749986C>T	ENST00000600428.1	+	11	1458	c.812C>T	c.(811-813)cCt>cTt	p.P271L	TRIP10_ENST00000313244.9_Missense_Mutation_p.P435L|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.P379L|TRIP10_ENST00000313285.8_Missense_Mutation_p.P379L			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	435	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGAAGACACCTCAGATGGGG	0.478000													64	197					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95280053	95280053	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:95280053A>T	ENST00000344604.5	-	3	546	c.397T>A	c.(397-399)Tgt>Agt	p.C133S	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.C133S|ECM2_ENST00000375540.1_Missense_Mutation_p.C133S	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	133	VWFC.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTTTCATCACAAAGAACTCTT	0.522000													113	163					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11545926	11545926	+	Silent	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:11545926A>G	ENST00000389362.4	-	3	1121	c.1086T>C	c.(1084-1086)ccT>ccC	p.P362P	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCTTTCCTGGAGGAGATCGGG	0.612000													137	503					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93176022	93176022	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:93176022G>A	ENST00000393218.2	-	12	1352	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	LGMN_ENST00000334869.4_Silent_p.L339L|LGMN_ENST00000557434.1_Silent_p.L339L|LGMN_ENST00000555699.1_Silent_p.L339L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	339					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CTCACATCCAGATGCCGCTGG	0.592000													62	240					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242350491	242350491	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:242350491C>T	ENST00000264042.3	+	6	624	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	FARP2_ENST00000545004.1_Missense_Mutation_p.R152C|FARP2_ENST00000373287.4_Missense_Mutation_p.R152C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	152	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCTGGAAGAGCGTTTGACCTG	0.493000													9	37					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151875040	151875040	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:151875040C>T	ENST00000355193.2	-	38	7716	c.7498G>A	c.(7498-7500)Gtg>Atg	p.V2500M	KMT2C_ENST00000262189.6_Missense_Mutation_p.V2500M					lysine (K)-specific methyltransferase 2C																		TGAGGAGGCACAAGGAAGCGC	0.363000													29	191					0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14521049	14521049	+	Silent	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:14521049C>A	ENST00000242776.4	-	6	812	c.711G>T	c.(709-711)gtG>gtT	p.V237V	DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Silent_p.V237V	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	237	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						ACTTCCTGCACACAGGCCGGA	0.632000													44	113					5.73435e-26	6.63034e-26	1	1	0
FAXDC2	10826	broad.mit.edu	37	5	154200018	154200018	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:154200018T>C	ENST00000326080.5	-	9	1283	c.860A>G	c.(859-861)tAt>tGt	p.Y287C	FAXDC2_ENST00000517938.1_Missense_Mutation_p.Y264C	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		CAGCACCCCATAGCACTGGTT	0.572000													15	94					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90798195	90798195	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:90798195G>T	ENST00000354366.3	-	1	286	c.54C>A	c.(52-54)agC>agA	p.S18R	NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CTTTCCTGGAGCTCCCGCCAT	0.592000													40	266					8.20599e-20	9.37103e-20	1	1	0
PMAIP1	5366	broad.mit.edu	37	18	57569917	57569917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr18:57569917G>A	ENST00000269518.9	+	3	410	c.248G>A	c.(247-249)tGg>tAg	p.W83*	PMAIP1_ENST00000316660.6_Missense_Mutation_p.G33R			Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding			breast(1)	1		Colorectal(73;0.0946)				CAGGAGATTTGGAGACAAACT	0.433000													42	92					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8224685	8224685	+	Missense_Mutation	SNP	G	G	T	rs148540586		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:8224685G>T	ENST00000539824.1	+	10	1377	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.V411L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	411	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGTCTGCAGCGTGTACAGCCT	0.602000													9	55					2.80697e-09	3.07272e-09	1	1	0
GLDC	2731	broad.mit.edu	37	9	6587232	6587232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:6587232G>A	ENST00000321612.6	-	15	1909	c.1759C>T	c.(1759-1761)Caa>Taa	p.Q587*		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	587					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTTGAGCTTGATCCAGAGGC	0.403000													31	78					0	0	1	0	0
GSKIP	51527	broad.mit.edu	37	14	96851862	96851862	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:96851862G>A	ENST00000556095.1	+	4	2073	c.261G>A	c.(259-261)gtG>gtA	p.V87V	GSKIP_ENST00000438650.1_Silent_p.V87V|GSKIP_ENST00000554182.1_Silent_p.V87V|GSKIP_ENST00000555181.1_Silent_p.V87V	NM_001271904.1	NP_001258833.1			GSK3B interacting protein																		TCTTGTAGGTGGTAGGCTATG	0.398000													38	150					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828761	13828761	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:13828761T>G	ENST00000279593.3	-	4	1252	c.1043A>C	c.(1042-1044)aAt>aCt	p.N348T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	348					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGGACAAATTCCTCCCCTC	0.408000													35	117					0	0	1	0	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230748	29230748	+	RNA	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:29230748A>G	ENST00000441381.1	+	0	79																											AACAACAACAACAACACAATG	0.388000													10	64					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28880897	28880897	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:28880897C>T	ENST00000282397.4	-	29	3984	c.3733G>A	c.(3733-3735)Gac>Aac	p.D1245N	FLT1_ENST00000543394.1_Missense_Mutation_p.D268N|FLT1_ENST00000540678.1_Missense_Mutation_p.D463N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1245					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGCTGCTGTCGCCCTGGTAG	0.552000													26	83					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													5	28					0	0	1	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45681404	45681404	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:45681404G>T	ENST00000006275.4	-	1	91	c.73C>A	c.(73-75)Ccc>Acc	p.P25T	TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.P25T|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.P25T|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.P25T	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	25					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CCCGGGCCGGGGTCGGGGTCG	0.677000													17	86					9.16793e-09	9.91852e-09	1	1	0
OR2T4	127074	broad.mit.edu	37	1	248524920	248524920	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:248524920G>T	ENST00000366475.1	+	1	38	c.38G>T	c.(37-39)tGg>tTg	p.W13L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACTGGATGGTCGGATTTC	0.483000													27	99					1.17739e-12	1.32816e-12	1	1	0
TEKT3	64518	broad.mit.edu	37	17	15231310	15231310	+	Splice_Site	SNP	G	G	A	rs143165525	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:15231310G>A	ENST00000395930.1	-	4	848	c.663_splice	c.e4+1	p.T221_splice	TEKT3_ENST00000338696.2_Splice_Site_p.T221_splice	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	221					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CACATTTACCGTCAGCAGTTG	0.383000													44	136					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	193					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16674967	16674967	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:16674967C>T	ENST00000513610.1	-	35	5413	c.4959G>A	c.(4957-4959)ctG>ctA	p.L1653L	MYO10_ENST00000505695.1_Silent_p.L992L|MYO10_ENST00000515803.1_Silent_p.L992L|MYO10_ENST00000427430.2_Silent_p.L1010L|MYO10_ENST00000274203.9_Silent_p.L1010L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1653	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTTACCTTTTCAGATGGAACT	0.547000													27	277					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559465	20559465	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:20559465C>T	ENST00000329697.6	-	8	1185	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	ACSM2B_ENST00000565232.1_Silent_p.E339E|ACSM2B_ENST00000565322.1_Silent_p.E260E|ACSM2B_ENST00000567001.1_Silent_p.E339E|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	339					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAAGAAGGGACTCCCCTCCAG	0.527000													98	208					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1													p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													4	86					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53616150	53616150	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:53616150G>T	ENST00000219022.2	+	3	541	c.463G>T	c.(463-465)Gac>Tac	p.D155Y		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	155					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CACTGAACTGGACTTCGAGCT	0.403000													32	90					9.65021e-13	1.09527e-12	1	1	0
RTEL1	51750	broad.mit.edu	37	20	62326202	62326202	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr20:62326202C>T	ENST00000318100.4	+	32	4045	c.3218C>T	c.(3217-3219)tCc>tTc	p.S1073F	RTEL1_ENST00000508582.2_Missense_Mutation_p.S1097F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S1073F|RTEL1_ENST00000370003.1_Missense_Mutation_p.S318F|RTEL1_ENST00000370018.3_Missense_Mutation_p.S1073F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S1073F			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1073					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCCTGGGGTCCGCGGGCTGT	0.662000													24	148					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100728042	100728042	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:100728042G>A	ENST00000360820.2	+	14	2297	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	620					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AAGAACAGCAGAAGTAAGTAG	0.338000													24	70					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92560274	92560274	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:92560274T>C	ENST00000377067.3	+	6	1736	c.1364T>C	c.(1363-1365)aTa>aCa	p.I455T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	455						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATCCTGTGATAAATCAGATT	0.358000													21	63					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40681270	40681270	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:40681270A>T	ENST00000298910.7	+	20	2676	c.2618A>T	c.(2617-2619)gAt>gTt	p.D873V	LRRK2_ENST00000343742.2_Missense_Mutation_p.D873V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	873					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTAAATTTGATGAATGGACC	0.383000													11	80					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922053	131922053	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:131922053G>A	ENST00000286355.5	-	6	3633	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L	ADCY8_ENST00000377928.3_Missense_Mutation_p.S514L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	514					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACAGCACCGAGCCGGAGTG	0.478000										HNSCC(32;0.087)			25	177					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663461	71663461	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:71663461G>A	ENST00000567566.1	+	2	728	c.659G>A	c.(658-660)tGa>tAa	p.*220*	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000268485.3_Intron|MARVELD3_ENST00000567501.1_Intron|MARVELD3_ENST00000299952.4_Intron			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGATGGTCTGAGCTGGTGAA	0.403000													11	66					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52794093	52794093	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:52794093G>A	ENST00000245457.5	+	2	1152	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	PTGER2_ENST00000557436.1_Missense_Mutation_p.R78Q	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	333						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CTCTGTTGTCGGATTTCATTA	0.408000													35	139					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11537572	11537572	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:11537572C>T	ENST00000356392.4	-	5	732	c.645G>A	c.(643-645)aaG>aaA	p.K215K	CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_Silent_p.K24K|CCDC151_ENST00000545100.1_Silent_p.K161K	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	215										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCATCTGGGCCTTCTCCAGGC	0.627000													26	73					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52888227	52888227	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:52888227G>A	ENST00000422689.2	+	4	1409	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	465					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AAACCTTACAGATGTGATGAA	0.398000													4	15					0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27086837	27086837	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:27086837G>A	ENST00000341217.5	-	3	355	c.140C>T	c.(139-141)gCg>gTg	p.A47V	FAM222B_ENST00000452648.3_Missense_Mutation_p.A47V|FAM222B_ENST00000583953.1_Intron|FAM222B_ENST00000583522.1_Intron|FAM222B_ENST00000582266.1_Intron|FAM222B_ENST00000582059.1_Intron|FAM222B_ENST00000581407.1_Missense_Mutation_p.A47V|FAM222B_ENST00000581381.1_Intron|FAM222B_ENST00000577682.1_Intron	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	47																	CTTAGCATACGCATCCAATTC	0.502000													11	19					0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247201495	247201495	+	Silent	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:247201495A>G	ENST00000366503.2	-	4	584	c.426T>C	c.(424-426)caT>caC	p.H142H		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTGTTTGCAATGATATAACT	0.413000													74	199					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100287445	100287445	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:100287445C>G	ENST00000395996.1	+	19	2898	c.2787C>G	c.(2785-2787)atC>atG	p.I929M	VPS13B_ENST00000358544.2_Missense_Mutation_p.I929M|VPS13B_ENST00000357162.2_Missense_Mutation_p.I929M			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	929					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTCACAATCCAAGTTCCAC	0.398000													43	292					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996297	31996297	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:31996297G>A	ENST00000435363.2	+	25	3302	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	C4B_ENST00000425700.2_Missense_Mutation_p.G1073D	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1073			D -> G (in allotype C4B1 and allotype C4B3; dbSNP:rs2258218).		complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TTGTCACGGGGCAGCAGCACC	0.617000													4	64					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62390900	62390900	+	Missense_Mutation	SNP	C	C	G	rs139583671		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:62390900C>G	ENST00000281156.4	-	9	1296	c.1018G>C	c.(1018-1020)Gga>Cga	p.G340R	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCCTGTATCCCCCTCTGGCT	0.493000													10	73					0	0	1	0	0
ACOT13	55856	broad.mit.edu	37	6	24667534	24667534	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:24667534A>G	ENST00000230048.4	+	1	236	c.43A>G	c.(43-45)Atg>Gtg	p.M15V	ACOT13_ENST00000537591.1_5'UTR	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	15					protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity			large_intestine(1)	1						GATAAAGGCCATGACCAAGGC	0.512000											OREG0017230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	41					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89861767	89861767	+	Silent	SNP	T	T	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:89861767T>G	ENST00000287908.3	+	5	1695	c.1302T>G	c.(1300-1302)ctT>ctG	p.L434L	STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394629.2_Silent_p.L434L|STEAP2_ENST00000394621.2_Silent_p.L434L|STEAP2_ENST00000394626.1_Silent_p.L434L|STEAP2_ENST00000394622.2_Silent_p.L434L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	434					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ACTTTGTTCTTGCTCTTGTTT	0.353000													24	74					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100177997	100177997	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:100177997T>A	ENST00000328526.5	-	2	993	c.428A>T	c.(427-429)gAg>gTg	p.E143V	XKRX_ENST00000372956.2_Missense_Mutation_p.E130V|XKRX_ENST00000468904.1_Intron	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	130						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						ATAGGGCTCCTCCTGCTCCTC	0.507000													146	255					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158738290	158738290	+	Silent	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:158738290G>T	ENST00000407559.3	+	25	3179	c.3021G>T	c.(3019-3021)gcG>gcT	p.A1007A		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1007										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CCATGGCTGCGGTGGGTGAGC	0.622000													3	26					0.00909568	0.00919509	1	1	0
LIPE	3991	broad.mit.edu	37	19	42930494	42930494	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:42930494C>T	ENST00000244289.4	-	1	1084	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	270					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CCTGACATCACTTTATAACCA	0.488000													34	161					0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127519144	127519144	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr10:127519144C>T	ENST00000299130.3	+	4	347	c.335C>T	c.(334-336)tCa>tTa	p.S112L	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000278100.6_Missense_Mutation_p.S112L|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Missense_Mutation_p.S112L	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	112	Interaction with BRCA2.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACGGATGTTTCAGAAGACAGC	0.313000													14	123					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65417519	65417519	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:65417519G>T	ENST00000394224.3	+	13	3141	c.2845G>T	c.(2845-2847)Gag>Tag	p.E949*	SIPA1_ENST00000394227.3_Nonsense_Mutation_p.E847*|SIPA1_ENST00000527525.1_Nonsense_Mutation_p.E847*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.E949*	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	949					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCTGTCCCGAGAGGGTGAGGC	0.627000													43	135					1.62957e-23	1.87249e-23	1	1	0
ECT2L	345930	broad.mit.edu	37	6	139206872	139206872	+	Missense_Mutation	SNP	G	G	A	rs79865247	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:139206872G>A	ENST00000423192.1	+	17	2325	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Missense_Mutation_p.A722T			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	722	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCTCTACGCTGTCAGGCT	0.468000			"""N, Splice, Mis"""		ETP ALL								25	62					0	0	1	0	0
MC1R	4157	broad.mit.edu	37	16	89986164	89986164	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:89986164G>A	ENST00000555427.1	+	3	2801	c.498G>A	c.(496-498)gcG>gcA	p.A166A	TUBB3_ENST00000556922.1_Silent_p.A166A|MC1R_ENST00000555147.1_Silent_p.A166A					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGCCGTTGCGGCCATCTGGG	0.647000									Melanoma, Familial Clustering of				28	125					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121432043	121432043	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:121432043G>A	ENST00000257555.6	+	4	1016	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.V264I|HNF1A_ENST00000544413.1_Missense_Mutation_p.V264I|HNF1A_ENST00000543427.1_Missense_Mutation_p.V147I|HNF1A_ENST00000402929.1_Missense_Mutation_p.V264I|HNF1A_ENST00000541395.1_Missense_Mutation_p.V264I			P20823	HNF1A_HUMAN	HNF1 homeobox A	264	Interaction with DNA.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGGTGCGTGTCTACAACTG	0.647000									Hepatic Adenoma, Familial Clustering of				16	28					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11421068	11421068	+	RNA	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:11421068G>A	ENST00000381842.3	-	0	152				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547000													48	145					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818427	200818427	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:200818427C>T	ENST00000358823.2	+	11	2800	c.2530C>T	c.(2530-2532)Cct>Tct	p.P844S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P828S|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P855S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	855						cytoplasm|microtubule	protein binding										CATGGAGAATCCTCAAGCCAA	0.413000													41	230					0	0	1	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927814	13927814	+	RNA	SNP	A	A	T	rs141406384	by1000genomes	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:13927814A>T	ENST00000602743.1	-	0	224																											TTGGTGGGAGACGCTCAAGAG	0.512000													5	16					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262047	39262047	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:39262047A>G	ENST00000391415.1	+	1	464	c.407A>G	c.(406-408)aAg>aGg	p.K136R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	136	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						agctgctgcaagccccagtgc	0.652000													4	50					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074734	20074734	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:20074734C>T	ENST00000351989.3	+	3	1199	c.770C>T	c.(769-771)gCc>gTc	p.A257V	DGCR8_ENST00000407755.1_Missense_Mutation_p.A257V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A257V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	257	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGCCTTTGTGCCCCCAAAAAG	0.527000													5	229					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142499875	142499875	+	RNA	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:142499875G>A	ENST00000466254.1	+	0	492																											GCTGGTCAGTGCCCTCGTGCT	0.552000													8	74					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99863255	99863255	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:99863255A>C	ENST00000409679.1	-	3	216	c.72T>G	c.(70-72)agT>agG	p.S24R	LYG2_ENST00000333017.2_Missense_Mutation_p.S24R|LYG2_ENST00000409238.1_Missense_Mutation_p.S24R			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	24					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TCATTGAGTGACTGAAGGGGT	0.502000													39	127					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59821801	59821801	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:59821801C>A	ENST00000259008.2	-	15	2516	c.2249G>T	c.(2248-2250)gGa>gTa	p.G750V	BRIP1_ENST00000577598.1_Missense_Mutation_p.G750V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	750					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACCTTTCTCTCCTTTGTATTT	0.308000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					44	207					4.29476e-34	4.99705e-34	1	1	0
LRP12	29967	broad.mit.edu	37	8	105509897	105509897	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:105509897G>T	ENST00000276654.5	-	5	991	c.883C>A	c.(883-885)Cgt>Agt	p.R295S	LRP12_ENST00000424843.2_Missense_Mutation_p.R276S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	295	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATGACTTTACGGTGATCACCA	0.358000													10	122					3.86212e-05	4.03668e-05	1	1	0
SRRT	51593	broad.mit.edu	37	7	100479790	100479790	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:100479790A>G	ENST00000388793.4	+	5	735	c.515A>G	c.(514-516)tAt>tGt	p.Y172C	SRRT_ENST00000347433.4_Missense_Mutation_p.Y172C|SRRT_ENST00000432932.1_Missense_Mutation_p.Y172C|SRRT_ENST00000457580.2_Missense_Mutation_p.Y172C	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	172					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTCAAGCGCTATAATGACTAC	0.557000													16	125					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42739102	42739102	+	Missense_Mutation	SNP	C	C	T	rs140686107		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:42739102C>T	ENST00000441594.1	-	7	1024	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	HHATL_ENST00000310417.5_Missense_Mutation_p.V255M	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	255					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ATGGCCACCACGCTTAGGCCT	0.612000													25	172					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89298809	89298809	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:89298809C>T	ENST00000370521.3	+	21	3079	c.2720C>T	c.(2719-2721)gCa>gTa	p.A907V	PKN2_ENST00000370505.3_Missense_Mutation_p.A750V|PKN2_ENST00000544045.1_Missense_Mutation_p.A581V|PKN2_ENST00000370513.5_Missense_Mutation_p.A859V|PKN2_ENST00000495119.1_3'UTR	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	907	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAGAAAGATGCAGAGGATGTA	0.318000													8	42					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193343972	193343972	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:193343972A>G	ENST00000361510.2	+	7	1004	c.770A>G	c.(769-771)tAt>tGt	p.Y257C	OPA1_ENST00000361908.3_Missense_Mutation_p.Y239C|OPA1_ENST00000361150.2_Missense_Mutation_p.Y203C|OPA1-AS1_ENST00000444085.1_RNA|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361715.2_Missense_Mutation_p.Y221C|OPA1_ENST00000392438.3_Intron|OPA1_ENST00000487986.1_Intron|OPA1_ENST00000361828.2_Intron	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	206					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AGCACGAGCTATGCCCAACAG	0.493000													30	90					0	0	1	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123130244	123130244	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:123130244G>T	ENST00000368440.4	+	8	1230	c.1053G>T	c.(1051-1053)ttG>ttT	p.L351F	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.L220F	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	351					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AGGATATGTTGCAGTATTACT	0.413000													17	127					5.3912e-06	5.69927e-06	1	1	0
LILRA4	23547	broad.mit.edu	37	19	54848719	54848719	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:54848719A>G	ENST00000291759.4	-	5	960	c.904T>C	c.(904-906)Tcc>Ccc	p.S302P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	302	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACTCGGAGGAGACGTTGTGT	0.682000													20	78					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201817629	201817629	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:201817629C>A	ENST00000361565.4	+	4	490	c.421C>A	c.(421-423)Cct>Act	p.P141T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	141					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						CTGGGACTGGCCTGAAGCTTG	0.542000													16	85					2.32078e-09	2.55563e-09	1	1	0
RIOK2	55781	broad.mit.edu	37	5	96518925	96518925	+	Silent	SNP	T	T	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:96518925T>A	ENST00000509481.1	+	4	787	c.246T>A	c.(244-246)tcT>tcA	p.S82S	RIOK2_ENST00000283109.3_5'UTR|RIOK2_ENST00000508447.1_5'UTR																urinary_tract(1)	1						CAGATGCCTCTCCGACGACAG	0.582000													60	169					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84216583	84216583	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:84216583G>C	ENST00000405413.2	-	13	1682	c.1546C>G	c.(1546-1548)Ctc>Gtc	p.L516V	HPSE_ENST00000311412.5_Missense_Mutation_p.L516V|HPSE_ENST00000512196.1_Missense_Mutation_p.L442V|HPSE_ENST00000513463.1_Missense_Mutation_p.L458V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	516					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CCTGGCCGGAGAGGTTTTTCC	0.403000													15	100					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92365191	92365191	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:92365191A>T	ENST00000276609.3	+	11	1520	c.1281A>T	c.(1279-1281)ttA>ttT	p.L427F	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L427F|SLC26A7_ENST00000523719.1_Missense_Mutation_p.L427F	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	427						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCGAGATTTAAAAAAATATT	0.328000													15	160					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195595233	195595233	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:195595233G>C	ENST00000333602.6	-	12	2508	c.1891C>G	c.(1891-1893)Ccc>Gcc	p.P631A	TNK2_ENST00000428187.1_Missense_Mutation_p.P663A|TNK2_ENST00000392400.1_Missense_Mutation_p.P631A|TNK2_ENST00000381916.2_Missense_Mutation_p.P709A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	631	Pro-rich.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCGGGCGGGGGGGGCAGCGGG	0.726000													17	109					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20843369	20843369	+	Silent	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:20843369G>T	ENST00000328879.4	-	2	286	c.130C>A	c.(130-132)Cgg>Agg	p.R44R	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	44					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCGCTGTCCCGGAGAGCCAGC	0.622000													4	157					0.00909568	0.00919509	1	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													4	165					0	0	1	0	0
SNRPD2	6633	broad.mit.edu	37	19	46191786	46191786	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:46191786T>G	ENST00000342669.3	-	2	485	c.41A>C	c.(40-42)gAg>gCg	p.E14A	SNRPD2_ENST00000590212.1_Missense_Mutation_p.E14A|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E4A|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E14A|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E4A|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E4A	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	14					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTGCAGCTCCTCTGGGGTCAT	0.532000													25	188					0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37788586	37788586	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:37788586C>T	ENST00000314103.4	+	14	1753	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	534					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGCCTGGAGACGCTCAGGGCA	0.507000													9	62					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255327	140255327	+	Silent	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:140255327C>A	ENST00000398631.2	+	1	270	c.270C>A	c.(268-270)atC>atA	p.I90I	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGA	0.597000													65	408					1.1794e-34	1.38095e-34	1	1	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													3	44					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493000													45	97					0	0	1	0	0
MARCH3	115123	broad.mit.edu	37	5	126250611	126250611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:126250611C>T	ENST00000515241.1	-	2	460	c.404G>A	c.(403-405)tGg>tAg	p.W135*	MARCH3_ENST00000308660.5_Intron			Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	76					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		GGACGTGCCCCACTTACTGAC	0.493000													16	72					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	23					0.00909568	0.00919509	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73725497	73725497	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:73725497C>T	ENST00000200181.3	+	7	905	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	ITGB4_ENST00000449880.2_Silent_p.L240L|ITGB4_ENST00000339591.3_Silent_p.L240L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.L240L|ITGB4_ENST00000450894.3_Silent_p.L240L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	240	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGATGCCATCCTGCAGACAGC	0.622000													23	48					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99852545	99852545	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:99852545G>C	ENST00000373031.4	+	5	685	c.468G>C	c.(466-468)tgG>tgC	p.W156C		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	156	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CAGTGATTTGGGTCCCAGCAG	0.373000													19	166					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114119	147114119	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:147114119C>G	ENST00000383075.3	-	3	720	c.208G>C	c.(208-210)Gac>Cac	p.D70H	ZIC4_ENST00000473123.1_Missense_Mutation_p.D70H|ZIC4_ENST00000425731.3_Missense_Mutation_p.D108H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.D70H|ZIC4_ENST00000525172.2_Missense_Mutation_p.D120H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	70						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGTACATGTCTCCAGGGAGC	0.726000													15	30					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													6	208					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33091954	33091954	+	Silent	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:33091954G>T	ENST00000267068.3	-	6	1901	c.1737C>A	c.(1735-1737)gtC>gtA	p.V579V	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	579										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GATTATTTGTGACACAGACAC	0.413000													14	76					6.31663e-08	6.79405e-08	1	1	0
ACACA	31	broad.mit.edu	37	17	35600294	35600294	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:35600294C>T	ENST00000353139.5	-	22	3405	c.2924G>A	c.(2923-2925)aGc>aAc	p.S975N	ACACA_ENST00000360679.3_Missense_Mutation_p.S880N|ACACA_ENST00000394406.2_Missense_Mutation_p.S938N|ACACA_ENST00000335166.5_Missense_Mutation_p.S860N	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	938					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACCTGCTGGCTGGGAAACTG	0.428000													29	220					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001198	145001198	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:145001198A>T	ENST00000322810.4	-	29	4472	c.4303T>A	c.(4303-4305)Tcc>Acc	p.S1435T	PLEC_ENST00000354589.3_Missense_Mutation_p.S1298T|PLEC_ENST00000398774.2_Missense_Mutation_p.S1266T|PLEC_ENST00000527096.1_Missense_Mutation_p.S1321T|PLEC_ENST00000354958.2_Missense_Mutation_p.S1276T|PLEC_ENST00000345136.3_Missense_Mutation_p.S1298T|PLEC_ENST00000356346.3_Missense_Mutation_p.S1284T|PLEC_ENST00000436759.2_Missense_Mutation_p.S1325T|PLEC_ENST00000357649.2_Missense_Mutation_p.S1302T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1435	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGGCCGGGGAGGCCACCGGC	0.642000													21	97					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080223	57080223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:57080223C>A	ENST00000532437.1	-	4	2250	c.1939G>T	c.(1939-1941)Gag>Tag	p.E647*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E647*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	647	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCTCCTCCTCAACAGGCAGT	0.647000													21	75					0.000132079	0.000137273	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40650700	40650700	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:40650700G>A	ENST00000342449.3	-	10	1050	c.972C>T	c.(970-972)ggC>ggT	p.G324G	BRWD1_ENST00000380800.3_Silent_p.G324G|BRWD1_ENST00000333229.2_Silent_p.G324G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCATTTGAACGCCTGGCCTAG	0.333000													42	115					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923025	18923025	+	Splice_Site	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:18923025G>A	ENST00000317977.6	+	13	1891		c.e13-1		SLC5A10_ENST00000395645.3_Splice_Site|SLC5A10_ENST00000395642.1_Splice_Site|SLC5A10_ENST00000395643.2_Splice_Site|SLC5A10_ENST00000417251.2_Splice_Site|SLC5A10_ENST00000395647.2_Splice_Site			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10						sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTCCTCCCCAGGGGGCCTTCT	0.682000													4	41					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697544	17697544	+	Silent	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:17697544A>G	ENST00000399080.2	-	1	2162	c.2139T>C	c.(2137-2139)tgT>tgC	p.C713C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	713										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTGTTGAGGACAACTCATAT	0.323000													18	91					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													9	27					0	0	1	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042502	59042502	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:59042502G>A	ENST00000371225.2	-	1	664	c.327C>T	c.(325-327)gaC>gaT	p.D109D		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	109	Thyroglobulin type-1.				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					GGCCCTCGGGGTCGCAGTCGG	0.701000													15	26					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			37	72					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054997	4054997	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:4054997G>C	ENST00000322357.4	-	2	512	c.234C>G	c.(232-234)gaC>gaG	p.D78E	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.D78E	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	78	BTB.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTGACGAAGTCGATCTCGT	0.662000													13	69					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012967	73012967	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:73012967T>A	ENST00000308744.6	+	4	1105	c.1007T>A	c.(1006-1008)cTc>cAc	p.L336H	NPFFR2_ENST00000358749.3_Missense_Mutation_p.L234H|NPFFR2_ENST00000395999.1_Missense_Mutation_p.L237H|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	336					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CCCCTCTCCCTCATTGTCATC	0.527000													12	79					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107909817	107909817	+	Silent	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:107909817T>C	ENST00000328300.6	+	39	3790	c.3546T>C	c.(3544-3546)ggT>ggC	p.G1182G	COL4A5_ENST00000361603.2_Silent_p.G1182G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1182	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACAGAAGGGTGAACCAGGTG	0.428000									Alport syndrome with Diffuse Leiomyomatosis				13	28					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100553050	100553050	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:100553050G>A	ENST00000319509.7	+	2	1695	c.1695G>A	c.(1693-1695)gtG>gtA	p.V565V						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGTTTGCTGTGGAACAGGTGG	0.567000													9	118					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293182	45293182	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:45293182C>T	ENST00000447098.2	-	15	2274	c.2263G>A	c.(2263-2265)Gcc>Acc	p.A755T	PTCH2_ENST00000372192.3_Missense_Mutation_p.A755T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	755					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCAAAGAGGGCGCGTTGGGAG	0.642000									Basal Cell Nevus syndrome				28	76					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120214570	120214570	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:120214570C>T	ENST00000392521.2	-	14	1797	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	CIT_ENST00000261833.7_Missense_Mutation_p.R581Q|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	581					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGATCACTCCGTCTTCTTGC	0.448000													76	135					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15415841	15415841	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:15415841G>A	ENST00000281513.5	-	44	5516	c.5491C>T	c.(5491-5493)Ccc>Tcc	p.P1831S	NBAS_ENST00000441750.1_Missense_Mutation_p.P1711S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1831										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGGATTTTGGGAACAAGTTTG	0.403000													15	88					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65104673	65104673	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:65104673C>T	ENST00000358691.5	-	30	4825	c.4659G>A	c.(4657-4659)ccG>ccA	p.P1553P	HELZ_ENST00000580168.1_Silent_p.P1554P	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCCTCACTGGCGGCTGATGTA	0.562000													12	126					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162463813	162463813	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:162463813G>T	ENST00000306100.5	-	9	1484	c.1048C>A	c.(1048-1050)Cag>Aag	p.Q350K	FSTL5_ENST00000536695.1_Missense_Mutation_p.Q349K|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q349K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q349K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	350	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTCTAGCCTGACTCTCTGGA	0.418000													14	103					2.32078e-09	2.55563e-09	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248685642	248685642	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:248685642C>T	ENST00000343414.4	+	1	727	c.695C>T	c.(694-696)gCg>gTg	p.A232V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAATCAGCTGCGGGCCGCCAA	0.468000													51	155					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45459775	45459775	+	Silent	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:45459775C>A	ENST00000371438.1	+	5	1141	c.783C>A	c.(781-783)gtC>gtA	p.V261V	RUNX2_ENST00000541979.1_Silent_p.V329V|RUNX2_ENST00000371432.3_Silent_p.V247V|RUNX2_ENST00000465038.2_Silent_p.V261V|RUNX2_ENST00000352853.5_Silent_p.V329V|RUNX2_ENST00000359524.5_Silent_p.V247V|RUNX2_ENST00000576263.1_Silent_p.V261V|RUNX2_ENST00000371436.6_Silent_p.V261V	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	261	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAGTAGGTGTCCCGCCTCAGA	0.502000													20	176					5.35267e-07	5.72395e-07	1	1	0
KLHL24	54800	broad.mit.edu	37	3	183381264	183381264	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:183381264G>A	ENST00000454652.1	+	5	1325	c.939G>A	c.(937-939)gaG>gaA	p.E313E	KLHL24_ENST00000242810.6_Silent_p.E313E|KLHL24_ENST00000476808.1_Silent_p.E313E			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	313						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCTATTCTGAGGTGATAGTTG	0.338000													45	149					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116130642	116130642	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:116130642G>A	ENST00000374183.4	+	5	700	c.661G>A	c.(661-663)Gcg>Acg	p.A221T	BSPRY_ENST00000462085.1_Intron	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	221	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTGGGCAACGGCGGTTCTTGG	0.527000													22	176					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436628	25436628	+	RNA	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr15:25436628G>T	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1																						ATGCTCAATAGGATTACGCTG	0.507000													83	609					8.45e-40	9.95701e-40	1	1	0
HOXD10	3236	broad.mit.edu	37	2	176982019	176982019	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:176982019G>C	ENST00000249501.4	+	1	713	c.458G>C	c.(457-459)aGa>aCa	p.R153T	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	153						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGATATTTTAGACTGAGTCAG	0.572000													5	353					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23406115	23406115	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:23406115G>A	ENST00000216036.4	-	5	814	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	206							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCTTGCTGCGGATGTTCTGGT	0.622000													12	136					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													4	58					0	0	1	0	0
SLC25A32	81034	broad.mit.edu	37	8	104419953	104419953	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:104419953T>C	ENST00000297578.4	-	2	380	c.214A>G	c.(214-216)Att>Gtt	p.I72V	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	72					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	AGTTTCCAAATGGTAGTCAAG	0.408000													32	240					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:35657174C>T	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	145					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552000													85	417					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219279	134219279	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr10:134219279C>G	ENST00000305233.5	+	2	1334	c.1275C>G	c.(1273-1275)agC>agG	p.S425R	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S425R	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	425										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGTGCAGCAGCGACAGCCTGG	0.692000													10	89					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20082194	20082194	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:20082194C>T	ENST00000263754.4	+	1	680	c.225C>T	c.(223-225)atC>atT	p.I75I	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	75					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CGGCCCGAATCGCCGTGAAGA	0.721000													10	19					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11134270	11134270	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:11134270G>A	ENST00000358026.2	+	20	3220	c.2936G>A	c.(2935-2937)cGa>cAa	p.R979Q	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R979Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R979Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R979Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R979Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	979					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGCTCCGACGACTCAAGAAG	0.577000			"""F, N, Mis"""		NSCLC								12	29					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114397603	114397603	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:114397603G>A	ENST00000359785.5	-	8	744	c.609C>T	c.(607-609)gaC>gaT	p.D203D	PTPN22_ENST00000528414.1_Silent_p.D203D|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.D203D|PTPN22_ENST00000538253.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	203	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGAATAGGGTCTATAGATG	0.413000													44	136					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231829916	231829916	+	Translation_Start_Site	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:231829916C>A	ENST00000366637.3	+	0	465				DISC1_ENST00000317586.4_Missense_Mutation_p.P138T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.P138T|DISC1_ENST00000366633.3_Missense_Mutation_p.P138T|DISC1_ENST00000537876.1_Missense_Mutation_p.P138T|DISC1_ENST00000539444.1_Missense_Mutation_p.P138T|DISC1_ENST00000366636.4_Missense_Mutation_p.P138T|DISC1_ENST00000535983.1_Missense_Mutation_p.P138T|DISC1_ENST00000602281.1_Missense_Mutation_p.P138T|DISC1_ENST00000602873.1_Intron	NM_001012957.1	NP_001012975.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1						microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCCGTGTGGCCCTGGGAGTGC	0.612000													35	59					2.80507e-11	3.12613e-11	1	1	0
OR2T12	127064	broad.mit.edu	37	1	248458349	248458349	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:248458349C>T	ENST00000317996.1	-	1	531	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E178*(1)|p.E178K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACGGGGGCCTCGCAGAAGAAG	0.567000													40	145					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108716285	108716285	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr10:108716285C>G	ENST00000263054.6	-	2	619	c.612G>C	c.(610-612)gaG>gaC	p.E204D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E204D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	204						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAAGCGAGCTCTCTGTGATGC	0.418000													35	54					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128089	117128089	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:117128089C>T	ENST00000310357.3	-	3	800	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	GPRC6A_ENST00000530250.1_Missense_Mutation_p.R260Q|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R260Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	260					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTCAGTGTCCGATTGATTCT	0.363000													14	125					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923032	18923032	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:18923032T>C	ENST00000317977.6	+	13	1898	c.1327T>C	c.(1327-1329)Ttc>Ctc	p.F443L	SLC5A10_ENST00000395645.3_Missense_Mutation_p.F473L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.F443L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.F446L|SLC5A10_ENST00000417251.2_Missense_Mutation_p.F437L|SLC5A10_ENST00000395647.2_Missense_Mutation_p.F489L			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	473					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCAGGGGGCCTTCTGGGGCCT	0.687000													4	42					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47333995	47333995	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:47333995A>C	ENST00000400304.1	+	7	635	c.635A>C	c.(634-636)cAc>cCc	p.H212P	PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000468429.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	225					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTACTGCAGCACCCGCCGCTG	0.627000													15	35					0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6753641	6753641	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:6753641C>T	ENST00000229243.2	-	5	699	c.606G>A	c.(604-606)gaG>gaA	p.E202E	ACRBP_ENST00000536350.1_Silent_p.E202E|ACRBP_ENST00000414226.2_Silent_p.E169E	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	202						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CCTGCCTGTGCTCCACTCCTT	0.567000													41	172					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57602910	57602910	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:57602910G>T	ENST00000243077.3	+	79	12656	c.12190G>T	c.(12190-12192)Gcc>Tcc	p.A4064S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4064					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGCAGACGCCAAGCTTTC	0.617000													19	88					0.00188189	0.00193417	1	1	0
CNOT8	9337	broad.mit.edu	37	5	154250226	154250226	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:154250226A>G	ENST00000517876.1	+	5	793	c.317A>G	c.(316-318)gAc>gGc	p.D106G	CNOT8_ENST00000521583.1_5'UTR|CNOT8_ENST00000521450.1_5'UTR|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000523698.1_5'UTR|CNOT8_ENST00000403027.2_Missense_Mutation_p.D106G|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000285896.6_Missense_Mutation_p.D106G			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	106					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTAGAGAGGACATGTACTCC	0.393000													37	110					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22163405	22163405	+	Silent	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:22163405G>C	ENST00000374695.3	-	75	10324	c.10245C>G	c.(10243-10245)gcC>gcG	p.A3415A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3415	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTCAACGCTGGCCCCAATGC	0.667000													3	8					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37129598	37129598	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:37129598A>T	ENST00000588268.1	-	6	1876	c.1649T>A	c.(1648-1650)gTc>gAc	p.V550D	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.V527D	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGGAAACCTGACTGGCTTCTC	0.378000													7	44					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84585990	84585990	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:84585990G>A	ENST00000262753.4	-	7	964	c.819C>T	c.(817-819)caC>caT	p.H273H	POF1B_ENST00000373145.3_Silent_p.H273H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	273							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTAATAAGCAGTGATATAGAT	0.378000													36	99					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44060805	44060805	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:44060805C>T	ENST00000344290.5	+	6	957	c.635C>T	c.(634-636)cCg>cTg	p.P212L	MAPT_ENST00000420682.2_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.P212L|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P212L|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P212L|MAPT_ENST00000574436.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	212					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AAAGAGAGGCCGGGGAGCAAG	0.692000													14	44					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043080	153043080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:153043080C>T	ENST00000367245.5	+	2	408	c.400C>T	c.(400-402)Cga>Tga	p.R134*	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	134						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CTGTGAACGTCGAAGCAACCT	0.498000													53	142					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61505662	61505662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:61505662C>T	ENST00000257215.5	+	16	1755	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	547					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGTCCTGCAGCGAAGCACCAA	0.642000													19	60					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													7	17	---	---	---	---					
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgc>tg	p.CL132del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	132					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606													9	159	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													12	396	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120458389	120458389	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:120458389delG	ENST00000256646.2	-	34	7175	c.6956delC	c.(6955-6957)ggfs	p.A2319fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2319					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGCCCCCGCTGGTTGGGC	0.622			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				16	165	---	---	---	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)del	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													7	155	---	---	---	---					
GNPAT	8443	broad.mit.edu	37	1	231396328	231396330	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:231396328_231396330delAAA	ENST00000366647.4	+	3	506_508	c.337_339delAAA	c.(337-339)del	p.K113del	GNPAT_ENST00000366646.3_In_Frame_Del_p.K52del	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	113					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AATGAGTCACAAACTGCGTCTTG	0.414													71	583	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179395925	179395925	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:179395925delG	ENST00000589042.1	-	358	105641	c.105417delC	c.(105415-105417)acfs	p.T35139fs	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.T33498fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.T32571fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.T26199fs|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.T26074fs|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T26266fs|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33498							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCGTAGACGGTCATGGACC	0.483													88	370	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	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													7	245	---	---	---	---					
RP11-553L6.2	0	broad.mit.edu	37	3	113951739	113951739	+	RNA	DEL	C	C	-	rs75864387		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:113951739delC	ENST00000493033.1	+	0	160				RP11-553L6.2_ENST00000481773.1_RNA																							CTGCCCCCTGCCCCCCCCCCA	0.652													5	1	---	---	---	---					
IMPG1	3617	broad.mit.edu	37	6	76715077	76715086	+	Frame_Shift_Del	DEL	GTCTGTAGCT	GTCTGTAGCT	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:76715077_76715086delGTCTGTAGCT	ENST00000369950.3	-	10	1242_1251	c.1053_1062delAGCTACAGAC	c.(1051-1062)acfs	p.TATD351fs	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	351					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.D354A(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCCTTTTGAGGTCTGTAGCTGTGAGATAGA	0.429													7	155	---	---	---	---					
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	667	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													7	143	---	---	---	---					
DEFB108B	245911	broad.mit.edu	37	11	71548597	71548597	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:71548597delA	ENST00000328698.1	+	2	211	c.211delA	c.(211-213)aafs	p.K72fs	DEFB108B_ENST00000529157.1_3'UTR	NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN	defensin, beta 108B	72					defense response to bacterium	extracellular region				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CACTACACCCAAAAAGGACTG	0.458													7	1731	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													8	266	---	---	---	---					
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tagfs	p.*174fs	TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000539652.1_Intron	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351													11	268	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)del	p.S45del	ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	1377	---	---	---	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													14	1718	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gct>gc	p.AA162del		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749													7	20	---	---	---	---					
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gcc>gc	p.AS587del	SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	587					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542													7	216	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)del	p.E392del	TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611													7	136	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													10	88	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr18:34261459_34261460delAG	ENST00000257209.4	+	12	1493_1494	c.1371_1372delAG	c.(1369-1374)gcagfs	p.AE457fs	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	457					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.460													7	163	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													9	239	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													9	203	---	---	---	---					
MATN4	8785	broad.mit.edu	37	20	43926821	43926822	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr20:43926821_43926822delGC	ENST00000537548.1	-	8	1658_1659	c.1414_1415delGC	c.(1414-1416)cfs	p.A472fs	MATN4_ENST00000372751.4_Frame_Shift_Del_p.A323fs|MATN4_ENST00000372756.1_Frame_Shift_Del_p.A472fs|MATN4_ENST00000372754.1_Frame_Shift_Del_p.A513fs|MATN4_ENST00000353917.5_Frame_Shift_Del_p.A390fs|MATN4_ENST00000342716.4_Frame_Shift_Del_p.A472fs|MATN4_ENST00000360607.5_Frame_Shift_Del_p.A431fs|MATN4_ENST00000372753.1_Frame_Shift_Del_p.A323fs			O95460	MATN4_HUMAN	matrilin 4	513	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TTCCTCCTTGGCGCGCGCTGCC	0.683													21	165	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													7	941	---	---	---	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaa>ga	p.EE367del	RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													7	319	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67433776	67433777	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:67433776_67433777insA	ENST00000355520.5	-	7	1165_1166	c.524_525insT	c.(523-525)tgafs	p.*175fs	OPHN1_ENST00000540071.1_Frame_Shift_Ins_p.*175fs	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	175					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GAGAGGACTCGAAAAAATTGTG	0.381													8	49	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													15	549	---	---	---	---					
FAM58A	92002	broad.mit.edu	37	X	152864477	152864478	+	Splice_Site	INS	-	-	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:152864477_152864478insC	ENST00000406277.2	-	2	152_153	c.51_splice	c.e2+1	p.A17_splice	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	18					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCGGCTGCCCTCCGGGCC	0.782													7	8	---	---	---	---					
