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
TRPC4	7223	broad.mit.edu	37	13	38320463	38320463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:38320463G>A	ENST00000379705.3	-	3	1365	c.508C>T	c.(508-510)Cga>Tga	p.R170*	TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R170*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.R170*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R170*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R170*|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.R170*|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R170*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	170	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCGTGGGGTCGAGGCACTGAG	0.473000													56	70					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43126660	43126660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:43126660C>T	ENST00000230419.4	+	18	3048	c.2827C>T	c.(2827-2829)Caa>Taa	p.Q943*	PTK7_ENST00000352931.2_Nonsense_Mutation_p.Q887*|PTK7_ENST00000349241.2_Nonsense_Mutation_p.Q813*|PTK7_ENST00000481273.1_Nonsense_Mutation_p.Q951*|PTK7_ENST00000345201.2_Nonsense_Mutation_p.Q903*	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	943	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGCCCAGAGACAAGTGAAGGT	0.592000													51	57					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376715	52376715	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52376715A>C	ENST00000420592.1	-	6	1684	c.351T>G	c.(349-351)caT>caG	p.H117Q	ZNF577_ENST00000451628.2_Missense_Mutation_p.H117Q|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.H176Q			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAGTTCTCTGATGTTGAATAA	0.463000													4	139					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816721	90816721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:90816721C>T	ENST00000394980.1	+	2	918	c.599C>T	c.(598-600)tCa>tTa	p.S200L	MMRN1_ENST00000394981.1_Missense_Mutation_p.S166L|MMRN1_ENST00000264790.2_Missense_Mutation_p.S200L			Q13201	MMRN1_HUMAN	multimerin 1	200					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TACCAAAAATCAAATTTCGAA	0.448000													16	17					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767765	41767765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:41767765C>T	ENST00000379483.3	-	1	937	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	210							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGTCTCCTCCCGAATTGAACC	0.537000													49	232					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	871159	871159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:871159G>A	ENST00000316157.3	-	12	1370	c.1330C>T	c.(1330-1332)Cga>Tga	p.R444*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	444							nucleotide binding|RNA binding	p.R444*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTAATTAATCGATCTGCAGTG	0.463000													74	21					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104414852	104414852	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:104414852C>T	ENST00000302424.6	+	3	804	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	228						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGTGAACCAACTGAAGGAGGA	0.572000													28	39					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53245584	53245584	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:53245584G>A	ENST00000294353.6	+	4	1156	c.1011G>A	c.(1009-1011)cgG>cgA	p.R337R	ZYG11B_ENST00000545132.1_Silent_p.R337R|ZYG11B_ENST00000443756.2_Silent_p.R337R	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	337							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACAGTGAACGGGCATTCTTTG	0.388000													78	46					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880137	101880137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:101880137G>A	ENST00000551346.1	+	6	494	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	SPIC_ENST00000299272.5_Missense_Mutation_p.R112Q			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAGAAGCTCCGACTGTTTGAA	0.428000													78	18					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411976	40411976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40411976C>T	ENST00000221347.6	-	7	3659	c.3652G>A	c.(3652-3654)Gag>Aag	p.E1218K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1218	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGCCGCCCTCCTGGCAGTGG	0.682000													44	66					0	0	1	0	0
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20861666	20861666	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:20861666G>A	ENST00000582583.1	+	0	750				RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000584433.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA																							ATCCCCCAAAGTGGGATACCA	0.448000													6	7					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172832	5172832	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:5172832G>A	ENST00000380367.1	-	2	1185	c.768C>T	c.(766-768)ctC>ctT	p.L256L	OR52A1_ENST00000328942.1_Silent_p.L256L			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	256					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAGGCAAGGAGGTAGAACT	0.428000													27	68					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31962366	31962366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31962366G>A	ENST00000428956.2	+	21	2768	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	C4A_ENST00000498271.1_Missense_Mutation_p.R895Q	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GGCTCTGCCCGGCCTGTTGCC	0.692000													27	28					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7773063	7773063	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:7773063A>G	ENST00000338316.4	+	18	2322	c.2233A>G	c.(2233-2235)Att>Gtt	p.I745V	ADCY2_ENST00000537121.1_Missense_Mutation_p.I565V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	745					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTACAGCTGCATTCTGGGACT	0.468000													44	270					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49700100	49700100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:49700100C>T	ENST00000252826.5	+	17	2740	c.2614C>T	c.(2614-2616)Ctc>Ttc	p.L872F	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Missense_Mutation_p.L518F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	872					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTAGTGGCTCTCACCTGCTT	0.716000													6	30					0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70760624	70760624	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:70760624T>A	ENST00000258111.4	+	1	569	c.110T>A	c.(109-111)tTc>tAc	p.F37Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	37					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATCTTCGGCTTCTGCTGGCTG	0.612000													41	406					0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24036534	24036534	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:24036534G>A	ENST00000290691.5	+	5	2083	c.912_splice	c.e5-1	p.E305_splice	RGL4_ENST00000401461.1_Splice_Site_p.E169_splice	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	305	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCCTCTCCAGGAGTGCCTAAG	0.572000													57	37					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938722	2938722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:2938722G>A	ENST00000378404.2	+	1	677	c.472G>A	c.(472-474)Gac>Aac	p.D158N		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	158						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCTGGTGGTGGACAGCGGGGA	0.632000													40	122					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501805	136501805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:136501805G>A	ENST00000393056.2	+	1	324	c.312G>A	c.(310-312)tgG>tgA	p.W104*		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	104	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGGTGCTCTGGACCGATGGGG	0.607000													42	11					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927367	43927367	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:43927367T>A	ENST00000282406.4	+	8	1380	c.1270T>A	c.(1270-1272)Tct>Act	p.S424T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	424						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAACTCACTCTCTGGAAAAGG	0.443000													64	125					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134659722	134659722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:134659722C>T	ENST00000368586.5	-	44	6377	c.6277G>A	c.(6277-6279)Gcc>Acc	p.A2093T	TTC40_ENST00000263170.5_Missense_Mutation_p.A254T	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	254										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTCTCTGAGGCCGAGCAGCTC	0.682000													9	26					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029589	71029589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:71029589C>T	ENST00000334414.6	-	2	357	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.E104K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E105K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGGCATTTTCCACCTCAAGG	0.537000													6	106					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28196959	28196959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:28196959G>A	ENST00000354638.3	-	18	2077	c.1922C>T	c.(1921-1923)tCg>tTg	p.S641L	OCA2_ENST00000353809.5_Missense_Mutation_p.S617L|OCA2_ENST00000382996.2_Missense_Mutation_p.S641L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	641					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.S641W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGGACAAACGAATTGAGGAA	0.443000									Oculocutaneous Albinism				37	57					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295535	62295535	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62295535G>A	ENST00000378024.4	-	5	6628	c.6354C>T	c.(6352-6354)tcC>tcT	p.S2118S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2118					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCAGGCATGGAGATCTTGG	0.512000													175	229					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109381664	109381664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:109381664G>A	ENST00000283195.6	+	20	4795	c.4669G>A	c.(4669-4671)Gaa>Aaa	p.E1557K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1557					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGTGCGAAATGAAGCAAATGC	0.408000													104	139					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:82582174G>A	ENST00000423517.2	-	5	8432	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_ENST00000333891.8_Missense_Mutation_p.P2699S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2630					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTGGAGGAATTGTTATG	0.403000													8	22					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885601	29885601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:29885601G>A	ENST00000310624.6	+	4	2005	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	664	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCAGAGAAGGAAGAGGCCAA	0.562000													23	71					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133293	64133293	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:64133293G>A	ENST00000295902.6	-	7	1458	c.873C>T	c.(871-873)tcC>tcT	p.S291S	PRICKLE2_ENST00000564377.1_Silent_p.S347S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	291	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCCCCAGGAGGGATTTCTTGC	0.542000													75	117					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148924065	148924065	+	Silent	SNP	G	G	A	rs117829763	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:148924065G>A	ENST00000264613.6	-	6	1360	c.1098C>T	c.(1096-1098)atC>atT	p.I366I		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	366					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCTTCCCACGGATATTATCCT	0.413000													27	88					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293331	130293331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:130293331G>A	ENST00000358511.6	+	7	3540	c.3509G>A	c.(3508-3510)aGg>aAg	p.R1170K	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1170K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1170	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTCAATAAAAGGATCGTTCGC	0.448000													24	26					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184689496	184689496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:184689496C>T	ENST00000287546.4	+	39	3547	c.3376C>T	c.(3376-3378)Ctt>Ttt	p.L1126F	VPS8_ENST00000446204.2_Missense_Mutation_p.L1034F|VPS8_ENST00000436792.2_Missense_Mutation_p.L1124F|VPS8_ENST00000437079.3_Missense_Mutation_p.L1126F	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1126							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GACCATTGCTCTTTGCCAGAG	0.393000													9	23					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126147010	126147010	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:126147010C>T	ENST00000263578.5	+	10	1220	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	FOXRED1_ENST00000532125.1_Silent_p.F368F|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Silent_p.F212F	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	382						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		ACCATGATTTCTTCCAGGACA	0.542000													100	109					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257771	41257771	+	Silent	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:41257771A>G	ENST00000307221.4	-	1	359	c.228T>C	c.(226-228)ggT>ggC	p.G76G	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	76					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						AATGACTTCCACCTCCGTTTA	0.353000													4	150					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304559	53304559	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:53304559A>G	ENST00000438150.2	-	2	1273	c.380T>C	c.(379-381)aTt>aCt	p.I127T	ZNF28_ENST00000360272.4_Missense_Mutation_p.I127T|ZNF28_ENST00000414252.2_Missense_Mutation_p.I127T|ZNF28_ENST00000457749.2_Missense_Mutation_p.I180T			P17035	ZNF28_HUMAN	zinc finger protein 28	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCTACAACAAATTCTTTGGGA	0.368000													48	170					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18491677	18491677	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:18491677T>A	ENST00000336714.3	+	2	630	c.198T>A	c.(196-198)tgT>tgA	p.C66*	SEC23B_ENST00000262544.2_Nonsense_Mutation_p.C66*|SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377475.3_Nonsense_Mutation_p.C66*|SEC23B_ENST00000377465.1_Nonsense_Mutation_p.C66*	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	66					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGCCAACTTGTAAAGCTGTTC	0.383000													93	118					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961642	73961642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:73961642C>T	ENST00000373468.1	-	3	3401	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G917E			Q5QGS0	K2022_HUMAN	KIAA2022	917					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGGGAGGCTCCAAATTCACT	0.458000													19	3					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24974803	24974803	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24974803C>T	ENST00000250378.3	-	5	692	c.663G>A	c.(661-663)cgG>cgA	p.R221R	CMA1_ENST00000206446.4_Silent_p.R110R|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	221	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TTGCATCCGACCGTCCATAGG	0.602000													39	33					0	0	1	0	0
STX19	415117	broad.mit.edu	37	3	93734101	93734101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:93734101G>A	ENST00000315099.2	-	2	269	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	5					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						AGTTCTTGAAGTCGGTCTTTC	0.383000													33	43					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063677	170063677	+	Missense_Mutation	SNP	G	G	A	rs143884041	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:170063677G>A	ENST00000263816.3	-	39	6838	c.6553C>T	c.(6553-6555)Ctt>Ttt	p.L2185F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2185					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGACTTTAAGAAGAACACGG	0.418000													49	69					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138450896	138450896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:138450896G>A	ENST00000344876.4	-	1	2733	c.2347C>T	c.(2347-2349)Cct>Tct	p.P783S	PCDH18_ENST00000507846.1_Missense_Mutation_p.P563S|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P783S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	783					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTAAGGTAGGAGATGAAGAT	0.507000													9	43					0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7320368	7320368	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:7320368G>A	ENST00000317900.5	-	2	245	c.75C>T	c.(73-75)gcC>gcT	p.A25A	SPAG11B_ENST00000398462.2_Silent_p.A25A|SPAG11B_ENST00000361111.2_Silent_p.A25A|SPAG11B_ENST00000297498.2_Silent_p.A25A|SPAG11B_ENST00000359758.5_Silent_p.A25A	NM_058203.2	NP_478110.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	25					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCACATGTCTGGCTTGAGACG	0.587000													41	144					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56599281	56599281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:56599281C>T	ENST00000426861.1	-	6	873	c.787G>A	c.(787-789)Gga>Aga	p.G263R	SEPT4_ENST00000393086.1_Intron|SEPT4_ENST00000583114.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000580809.1_Missense_Mutation_p.G164R|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000457347.2_Intron|SEPT4_ENST00000412945.3_Intron|SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000317268.3_Intron	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	0					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCTGTTCCCTTGACAGCA	0.602000													50	69					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37913579	37913579	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:37913579G>T	ENST00000357972.5	+	3	779	c.233G>T	c.(232-234)gGa>gTa	p.G78V	SYTL5_ENST00000297875.2_Missense_Mutation_p.G78V|SYTL5_ENST00000456733.2_Missense_Mutation_p.G78V|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	78	RabBD.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTTGACCGGGGAGACCCTTGT	0.517000													55	5					4.64241e-40	4.77276e-40	1	1	0
PCLO	27445	broad.mit.edu	37	7	82579060	82579060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:82579060G>A	ENST00000423517.2	-	6	11181	c.10844C>T	c.(10843-10845)tCc>tTc	p.S3615F	PCLO_ENST00000333891.8_Missense_Mutation_p.S3615F|PCLO_ENST00000437081.1_Missense_Mutation_p.S335F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3546					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGGGTGGGGAAGGAGCCAG	0.498000													51	36					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9489684	9489684	+	Silent	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:9489684C>A	ENST00000402466.1	+	16	2571	c.1803C>A	c.(1801-1803)acC>acA	p.T601T	SETD5_ENST00000402198.1_Silent_p.T699T|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Silent_p.T718T|SETD5_ENST00000302463.6_Silent_p.T601T|SETD5_ENST00000406341.1_Silent_p.T699T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	699										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACCCCAAAACCAAAAAGGTAA	0.433000													10	11					1.3612e-06	1.37228e-06	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40114658	40114658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:40114658G>A	ENST00000324616.5	+	13	1718	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	522										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAAAACCAAGGAAAAAATGAA	0.294000													21	6					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100333389	100333389	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100333389G>A	ENST00000542585.1	+	0	248				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGCTCTAGGGACAACTGTGA	0.498000													4	20					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961496	1961496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:1961496C>T	ENST00000217305.2	-	4	463	c.238G>A	c.(238-240)Gag>Aag	p.E80K	PDYN_ENST00000540134.1_Missense_Mutation_p.E80K|PDYN_ENST00000539905.1_Missense_Mutation_p.E80K|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	80					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAAGTCCTCCTTGTCATTG	0.572000													71	92					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16455387	16455387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:16455387G>A	ENST00000395824.1	-	6	2686	c.2069C>T	c.(2068-2070)tCa>tTa	p.S690L	ZNF287_ENST00000395825.3_Missense_Mutation_p.S690L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	683					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTGATTAAGTGATGAGGAATA	0.363000													16	44					0	0	1	0	0
MSL1	339287	broad.mit.edu	37	17	38285607	38285607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38285607C>T	ENST00000398532.3	+	3	1417	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	MSL1_ENST00000578648.1_Missense_Mutation_p.P368S|MSL1_ENST00000579565.1_Missense_Mutation_p.P105S|MSL1_ENST00000577454.1_Missense_Mutation_p.P368S			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	368					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TAAAGAGGAACCCTGTGGTTC	0.428000													27	54					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308423	205308423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:205308423G>A	ENST00000367156.3	-	7	1472	c.656C>T	c.(655-657)aCc>aTc	p.T219I	KLHDC8A_ENST00000537168.1_Missense_Mutation_p.T106I|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.T219I|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.T85I|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.T219I	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	219										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTTGTCCAGGGTCACAAAGCT	0.567000													21	57					0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206776555	206776555	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:206776555C>T	ENST00000271764.2	-	6	742	c.534G>A	c.(532-534)cgG>cgA	p.R178R	EIF2D_ENST00000367114.3_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	178					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTCCAGACCGCCTGGAAA	0.542000													47	48					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3182247	3182247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:3182247C>T	ENST00000355072.5	+	36	4763	c.4618C>T	c.(4618-4620)Ccg>Tcg	p.P1540S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1540					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACAGCCATACCGGCTCTGCA	0.423000													31	68					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038628	75038628	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:75038628C>T	ENST00000326665.5	-	14	2984	c.2766G>A	c.(2764-2766)ctG>ctA	p.L922L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	922	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCCTCTCTCAGGGCTGCTA	0.537000													47	157					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10927439	10927439	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:10927439G>A	ENST00000404371.2	-	13	1618	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	PDIA6_ENST00000272227.3_Silent_p.S375S|PDIA6_ENST00000381611.4_Silent_p.S380S|PDIA6_ENST00000540494.1_Silent_p.S372S|PDIA6_ENST00000404824.2_Silent_p.S423S			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	375	Asp/Glu-rich (acidic).				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GCTCACTGAAGGAGCCTTTTA	0.448000													60	89					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891355	89891355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:89891355C>T	ENST00000534061.1	+	7	1069	c.839C>T	c.(838-840)cCc>cTc	p.P280L	NAALAD2_ENST00000321955.4_Missense_Mutation_p.P280L|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	280	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGGGAATCCCCCGAATACCT	0.313000													83	124					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95524312	95524312	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:95524312G>A	ENST00000297591.5	-	12	2832	c.2757C>T	c.(2755-2757)atC>atT	p.I919I	KIAA1429_ENST00000421249.2_Silent_p.I919I|KIAA1429_ENST00000437199.1_Silent_p.I919I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	919					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCAAGTTATCGATATTCTTTA	0.388000													9	43					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224500	55224500	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:55224500C>T	ENST00000413439.1	+	0	1769																											GGGTCAGGTCCTGTGAAGGGG	0.597000													22	15					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593744	11593744	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:11593744G>T	ENST00000262442.3	+	20	4673	c.4605G>T	c.(4603-4605)caG>caT	p.Q1535H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1535H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1535	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCGGGCACAGCTACCCCAGG	0.488000													17	30					2.39187e-15	2.42499e-15	1	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877768	76877768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:76877768G>A	ENST00000328299.3	+	3	437	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	97					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGTGGGAAATGAGATAGATCG	0.473000													21	65					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48808426	48808426	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:48808426G>A	ENST00000316623.5	-	11	1736	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	427	Pro-rich.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGGTCGAGGGACCGGAATTT	0.473000													142	158					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081518	1081518	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:1081518C>T	ENST00000441003.2	+	12	1563	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	MUC2_ENST00000359061.5_Silent_p.L512L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	512	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCATGCAACTCTTTGTGACAC	0.647000													42	45					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739366	38739366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38739366C>T	ENST00000449082.2	-	27	5344	c.5345G>A	c.(5344-5346)cGa>cAa	p.R1782Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1782					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGTATATTTCGATTGGGTTT	0.473000													33	56					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53573412	53573412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:53573412G>A	ENST00000342160.3	-	69	11357	c.10900C>T	c.(10900-10902)Ctt>Ttt	p.L3634F	HUWE1_ENST00000262854.6_Missense_Mutation_p.L3634F|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3634					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTTTACAAAGGGTATAACCC	0.493000													19	4					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659586	39659586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:39659586C>T	ENST00000246635.3	-	3	734	c.688G>A	c.(688-690)Gag>Aag	p.E230K	KRT13_ENST00000336861.3_Missense_Mutation_p.E230K|KRT13_ENST00000587544.1_Missense_Mutation_p.E230K	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	230	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTCAGGCTCTCGATCTGCATC	0.582000													62	155					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25919417	25919417	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:25919417A>C	ENST00000398988.3	+	9	1195	c.750A>C	c.(748-750)gaA>gaC	p.E250D	KSR1_ENST00000268763.6_Missense_Mutation_p.E250D|KSR1_ENST00000509603.2_Missense_Mutation_p.E387D|KSR1_ENST00000319524.6_Missense_Mutation_p.E387D|KSR1_ENST00000581975.1_3'UTR	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	385				FSEGLSDTCIPLHASGRLTPRAL -> EFRHTSALTQHTAH TQHTSAHTQ (in Ref. 3).	Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTACCAAAGAAGCCCCTGCCT	0.522000													149	101					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61110896	61110896	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:61110896C>T	ENST00000394900.3	+	11	1177	c.948C>T	c.(946-948)ctC>ctT	p.L316L		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	316	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTCTCACCCTCCTGCTGGTGG	0.587000													125	159					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216800	3216800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:3216800G>A	ENST00000602557.1	-	22	3736	c.3181C>T	c.(3181-3183)Cac>Tac	p.H1061Y	CSMD1_ENST00000537824.1_Missense_Mutation_p.H1060Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H1060Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.H1060Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H1061Y|CSMD1_ENST00000520002.1_Missense_Mutation_p.H1061Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.H1061Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1061	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACCAAAGTGAAAACCAATT	0.522000													18	26					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43230705	43230705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:43230705G>A	ENST00000259750.4	+	13	1686	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	TTBK1_ENST00000304139.5_Missense_Mutation_p.E484K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	535						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCTGGCTGAGGAGGAGGATTT	0.642000													20	36					0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475779	238475779	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:238475779C>T	ENST00000165524.1	+	2	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	75						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		TGACCTGCTTCCCCCTGGAAG	0.672000													69	74					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			188	122					1.03563e-105	1.07431e-105	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321135	79321135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:79321135G>A	ENST00000428286.1	-	8	6178	c.4978C>T	c.(4978-4980)Cct>Tct	p.P1660S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2019S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2019					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGACAGCAGGAAAATTTTCT	0.433000													7	15					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122273434	122273434	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:122273434C>T	ENST00000398250.1	+	3	529	c.177C>T	c.(175-177)ttC>ttT	p.F59F	PPAPDC1A_ENST00000369073.3_Silent_p.F49F|PPAPDC1A_ENST00000439221.1_Silent_p.F59F|PPAPDC1A_ENST00000541332.1_Silent_p.F59F|PPAPDC1A_ENST00000398248.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	59					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CAATTTCTTTCCTCACACCCC	0.398000													58	63					0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964254	37964254	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:37964254C>T	ENST00000249014.4	+	3	1023	c.603C>T	c.(601-603)gaC>gaT	p.D201D		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	201					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					TGGACCTCGACCTTGGGCCCT	0.657000													104	81					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697010	48697010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:48697010G>A	ENST00000544264.1	-	1	3338	c.3058C>T	c.(3058-3060)Cgt>Tgt	p.R1020C	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1020C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1020	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTACTGTACGGACAATTCCA	0.547000													79	113					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36100427	36100427	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:36100427C>T	ENST00000377966.3	+	11	1751	c.1185C>T	c.(1183-1185)atC>atT	p.I395I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	395						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGCCATTTATCAATATACCTG	0.403000													25	10					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35086398	35086398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:35086398G>A	ENST00000382002.5	-	4	541	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.P39S|PRLR_ENST00000513753.1_Missense_Mutation_p.P39S|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000348262.3_Missense_Mutation_p.P39S|PRLR_ENST00000310101.5_Missense_Mutation_p.P39S|PRLR_ENST00000231423.3_Missense_Mutation_p.P39S|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	39	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCCTTATTGGGAGAACGACAT	0.453000													40	48					0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10346764	10346764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:10346764C>T	ENST00000397117.1	-	7	1210	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	SEC13_ENST00000397109.3_Missense_Mutation_p.A207T|SEC13_ENST00000350697.3_Missense_Mutation_p.A221T|SEC13_ENST00000383801.2_Missense_Mutation_p.A267T|SEC13_ENST00000337354.4_Missense_Mutation_p.A224T			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	221					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.A221T(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						ATGGAGGGGGCCCAGGCCACA	0.607000													62	73					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30885747	30885747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:30885747C>T	ENST00000454381.3	-	8	787	c.741G>A	c.(739-741)atG>atA	p.M247I	GADL1_ENST00000282538.5_Missense_Mutation_p.M247I			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	247					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CCTCAGGTATCATTTTACCTC	0.438000													64	84					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114322124	114322124	+	Silent	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:114322124C>A	ENST00000335678.6	+	1	655	c.423C>A	c.(421-423)atC>atA	p.I141I		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	141	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTGTGGAGATCCAGGACGGGC	0.627000													8	11					5.16669e-11	5.22507e-11	1	1	0
RASGRP1	10125	broad.mit.edu	37	15	38811551	38811551	+	Silent	SNP	C	C	T	rs143250519	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:38811551C>T	ENST00000310803.5	-	4	525	c.348G>A	c.(346-348)aaG>aaA	p.K116K	RASGRP1_ENST00000561180.1_Silent_p.K167K|RASGRP1_ENST00000450598.2_Silent_p.K116K|RASGRP1_ENST00000539159.1_Silent_p.K68K|RASGRP1_ENST00000558164.1_Silent_p.K116K|RASGRP1_ENST00000559830.1_Silent_p.K116K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	116	N-terminal Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CTGGTGAATTCTTTGCCAAAG	0.388000													48	73					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196965187	196965187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:196965187G>A	ENST00000367414.5	+	6	954	c.898G>A	c.(898-900)Gag>Aag	p.E300K	CFHR5_ENST00000256785.4_Missense_Mutation_p.E276K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	276	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCTGAACTCGAGTACGGTTA	0.348000													48	80					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90281315	90281315	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:90281315C>T	ENST00000268130.7	+	16	1910	c.1809C>T	c.(1807-1809)atC>atT	p.I603I	WDR93_ENST00000560294.1_Silent_p.I575I|WDR93_ENST00000444934.2_Silent_p.I320I	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	603					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGCTGGAATCCAATATTCTG	0.428000													180	315					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108264076	108264076	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:108264076G>T	ENST00000525729.1	-	5	512	c.443C>A	c.(442-444)tCa>tAa	p.S148*	C11orf65_ENST00000393084.1_Nonsense_Mutation_p.S197*|C11orf65_ENST00000526725.1_5'UTR|C11orf65_ENST00000529391.1_Nonsense_Mutation_p.S197*			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	197										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ATGATGTGTTGACTTAGCCTC	0.398000													4	160					1	1	1	1	0
BRINP1	1620	broad.mit.edu	37	9	122075565	122075565	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:122075565G>A	ENST00000265922.3	-	2	530	c.69C>T	c.(67-69)tcC>tcT	p.S23S	DBC1_ENST00000373964.2_Silent_p.S23S	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		23					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTTCCTGGTGGGAGGGCTGCA	0.512000													41	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091430	9091430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9091430G>A	ENST00000397910.4	-	1	588	c.385C>T	c.(385-387)Cca>Tca	p.P129S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	129	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTCCTTGGGGAACTCAAT	0.498000													44	82					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162801	141162801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:141162801C>T	ENST00000514251.1	+	4	1850	c.1571C>T	c.(1570-1572)aCt>aTt	p.T524I	ZBTB38_ENST00000321464.5_Missense_Mutation_p.T525I|ZBTB38_ENST00000441582.2_Missense_Mutation_p.T524I			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	524					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGTCTTGAAACTTTCATGACC	0.383000													34	38					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31918680	31918680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31918680G>A	ENST00000556679.1	+	26	3375	c.3320G>A	c.(3319-3321)cGa>cAa	p.R1107Q	CFB_ENST00000425368.2_Missense_Mutation_p.R605Q|CFB_ENST00000456570.1_Missense_Mutation_p.R1107Q|CFB_ENST00000477310.1_Missense_Mutation_p.R956Q			P00751	CFAB_HUMAN	complement factor B	605					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGAACAACTCGAGCTTTGAGG	0.527000													52	82					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452956	35452956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:35452956C>T	ENST00000357182.4	-	16	3954	c.3727G>A	c.(3727-3729)Gga>Aga	p.G1243R	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1243					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GCTTGTAATCCTAAATCTGAA	0.333000													29	111					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595524	44595524	+	Missense_Mutation	SNP	C	C	G	rs138244178	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:44595524C>G	ENST00000372299.3	+	2	639	c.581C>G	c.(580-582)cCg>cGg	p.P194R	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	194					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TTGTTGGGCCCGACTGTGCCT	0.597000													37	127					0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133451023	133451023	+	Silent	SNP	G	G	A	rs140392908	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:133451023G>A	ENST00000395029.1	+	2	456	c.261G>A	c.(259-261)cgG>cgA	p.R87R	TCF7_ENST00000378564.1_Silent_p.R87R|TCF7_ENST00000321584.4_Silent_p.R87R|TCF7_ENST00000342854.5_Silent_p.R87R|TCF7_ENST00000321603.6_Silent_p.R87R			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	87					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCGGGCGGGAACACGCTG	0.721000													6	9					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542541	21542541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:21542541C>T	ENST00000298694.4	+	3	779	c.652C>T	c.(652-654)Cct>Tct	p.P218S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P218S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	218					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCCTCCACTTCCTGAGGAGGC	0.612000													15	28					0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209007373	209007373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:209007373C>T	ENST00000260988.4	-	3	564	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	173					visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CAGTACAAATCCATGACTCGT	0.443000													64	85					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678354	25678354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:25678354G>A	ENST00000382051.3	+	13	2106	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	SLC34A2_ENST00000504570.1_Missense_Mutation_p.E685K|SLC34A2_ENST00000503434.1_Missense_Mutation_p.E685K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	686					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTCAAAGACCGAATGCACGGC	0.572000			T	ROS1	NSCLC								40	117					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78415601	78415601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:78415601C>T	ENST00000397909.2	+	9	2155	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L	NAV3_ENST00000266692.7_Missense_Mutation_p.S661L|NAV3_ENST00000536525.2_Missense_Mutation_p.S661L|NAV3_ENST00000228327.6_Missense_Mutation_p.S661L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	661						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGGACTTATCATATAGTAAG	0.423000										HNSCC(70;0.22)			40	12					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235335940	235335940	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:235335940C>T	ENST00000264183.3	-	23	4301	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	ARID4B_ENST00000349213.3_Silent_p.E1182E|ARID4B_ENST00000366603.2_Silent_p.E1268E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACTTTCTCTCTCTTTCTTCT	0.338000													10	5					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	37903866	37903866	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:37903866C>T	ENST00000261439.4	+	2	505	c.150C>T	c.(148-150)ctC>ctT	p.L50L	TBC1D1_ENST00000508802.1_Silent_p.L50L|TBC1D1_ENST00000402522.1_Silent_p.L50L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	50						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCGAAGACTCAGCAGGCAGT	0.582000													67	102					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165703502	165703502	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:165703502A>G	ENST00000230301.8	-	7	1195	c.1175T>C	c.(1174-1176)gTt>gCt	p.V392A	C6orf118_ENST00000543069.1_3'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	392										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCTTTTCAACCTTCTCAGT	0.308000													7	20					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504864	18504864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:18504864G>A	ENST00000380548.4	+	2	440	c.101G>A	c.(100-102)gGc>gAc	p.G34D	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.G34D|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.G34D|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G34D|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.G34D|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G34D	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	34	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCGGGACGGCCTATGGGAT	0.587000													77	15					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39798475	39798475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:39798475C>T	ENST00000564288.1	+	37	6992	c.6215C>T	c.(6214-6216)tCt>tTt	p.S2072F	MACF1_ENST00000372915.3_Missense_Mutation_p.S2077F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S512F|MACF1_ENST00000567887.1_Missense_Mutation_p.S2109F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2077					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGAAGATTCTTCTGTAGAG	0.373000													20	24					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2847860	2847860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:2847860G>A	ENST00000254528.3	+	2	347	c.188G>A	c.(187-189)gGa>gAa	p.G63E		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	63	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTGCTGGAGGGAAGTGAGAGT	0.617000													34	66					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897243	61897243	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:61897243G>A	ENST00000427159.2	-	21	3108	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	821					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCACCACCTTGAAATGACCTC	0.527000													112	138					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81219192	81219192	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:81219192G>A	ENST00000599697.1	-	11	1901	c.1902C>T	c.(1900-1902)acC>acT	p.T634T	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	634	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAGGCGCAGGGTGACAGCAG	0.637000													55	4					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92052877	92052877	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:92052877G>C	ENST00000285419.3	-	1	415	c.101C>G	c.(100-102)cCc>cGc	p.P34R		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	34						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CTTACCTCTGGGGCTGCTTTC	0.562000													25	126					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958994	54958994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:54958994G>A	ENST00000273286.5	-	2	418	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.L10F|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	86						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGATTTGAAAGGGAATTGTTG	0.443000													10	26					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840665	36840665	+	RNA	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:36840665A>C	ENST00000557188.1	+	0	296																											GGGTCTCCACAAATGCTCACC	0.468000													4	21					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115536999	115536999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:115536999C>T	ENST00000354462.3	+	5	556	c.398C>T	c.(397-399)aCc>aTc	p.T133I	PLEKHS1_ENST00000361048.1_Intron|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.T217I|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.T301I|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.T383I					pleckstrin homology domain containing, family S member 1																		CTGTTTCTTACCCGGTCCATC	0.527000													20	21					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941539	52941539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52941539G>A	ENST00000332323.6	+	4	926	c.865G>A	c.(865-867)Ggg>Agg	p.G289R	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.G276R	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CAAAGAATGTGGGAAAGTCTT	0.373000													15	19					0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44108568	44108568	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:44108568C>T	ENST00000342873.3	+	1	490	c.57C>T	c.(55-57)tcC>tcT	p.S19S	WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000488143.1_Intron|WFDC2_ENST00000372676.3_Intron			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	0					proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				ACCCTTACTCCTTTTTCTACC	0.572000													219	339					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409284	47409284	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:47409284G>A	ENST00000378688.4	-	3	1235	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	HTR2A_ENST00000542664.1_Silent_p.I368I|HTR2A_ENST00000543956.1_Silent_p.I284I			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	368					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGAGATAACCGATCCAAACAA	0.458000													39	38					0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20229598	20229598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:20229598G>A	ENST00000043402.7	-	2	1496	c.1058C>T	c.(1057-1059)gCt>gTt	p.A353V		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	353					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCCTGCCGAAGCTGGTCTTCC	0.667000													42	80					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719292	42719292	+	Silent	SNP	C	C	T	rs139272745	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:42719292C>T	ENST00000230882.4	+	10	1873	c.1683C>T	c.(1681-1683)aaC>aaT	p.N561N	GHR_ENST00000357703.3_Silent_p.N539N|GHR_ENST00000537449.1_Silent_p.N374N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	561					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAAGCTTAAACCAAGAGGACA	0.498000													12	32					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102157429	102157429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:102157429G>A	ENST00000306176.1	+	2	246	c.146G>A	c.(145-147)aGa>aAa	p.R49K	ZPLD1_ENST00000466937.1_Missense_Mutation_p.R33K|ZPLD1_ENST00000491959.1_Missense_Mutation_p.R33K	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	33	ZP.					integral to membrane		p.R49I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTCCACAGTAGATTTCCTGGT	0.418000													29	22					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80422298	80422298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:80422298C>T	ENST00000390006.4	+	3	541	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F	NARF_ENST00000581743.1_3'UTR|NARF_ENST00000345415.7_Intron|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000309794.10_Missense_Mutation_p.L82F|NARF_ENST00000457415.3_Missense_Mutation_p.L82F	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	82						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGTTCTGAACCTTAACAAGGT	0.542000													42	45					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494352	7494352	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:7494352G>A	ENST00000486284.1	+	6	1507	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.V411V|GRM7_ENST00000403881.1_Silent_p.V411V|GRM7_ENST00000357716.4_Silent_p.V411V|GRM7_ENST00000402647.2_Silent_p.V411V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	411					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCCAGTTCGTGATTGACGCAG	0.493000													31	40					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475857	74475857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:74475857G>A	ENST00000591885.1	-	4	780	c.230C>T	c.(229-231)cCt>cTt	p.P77L	RHBDF2_ENST00000389760.4_Missense_Mutation_p.P77L|RHBDF2_ENST00000592378.1_Intron|RHBDF2_ENST00000313080.4_Missense_Mutation_p.P106L			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	106					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCGGAAGCCAGGGCGCTTCTC	0.647000													27	34					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031453	109031453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:109031453C>T	ENST00000478945.1	-	3	366	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	40						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCTTGGTTCCATTTGTTCCA	0.413000													59	74					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43940861	43940861	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:43940861G>A	ENST00000343694.3	+	6	517	c.444_splice	c.e6-1	p.E149_splice	RBPJL_ENST00000372743.1_Splice_Site_p.E149_splice|RBPJL_ENST00000372741.3_Splice_Site_p.E149_splice	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	149					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGCCCCCTAGGAATTCGGCTG	0.647000											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	83	117					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640206	176640206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:176640206G>A	ENST00000367662.3	+	4	3256	c.2092G>A	c.(2092-2094)Ggt>Agt	p.G698S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G698S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	698	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGACCTTGCAGGTGCTGCCAC	0.507000													39	59					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473497	56473497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:56473497G>A	ENST00000291971.3	+	4	2178	c.2107G>A	c.(2107-2109)Gat>Aat	p.D703N	NLRP8_ENST00000590542.1_Missense_Mutation_p.D703N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	703						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGCAACGAATGATAAGCTGGA	0.512000													67	115					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160953628	160953628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:160953628C>T	ENST00000447678.1	-	39	6016	c.5896G>A	c.(5896-5898)Gaa>Aaa	p.E1966K	LPA_ENST00000316300.5_Missense_Mutation_p.E1966K|LPA_ENST00000484276.1_Intron	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4474	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGCACACTTCATTCTCAATA	0.423000													16	37					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373820	373820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:373820G>A	ENST00000329962.6	+	8	775	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	259						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACCACGTGGAAGTGGGCGT	0.647000													34	128					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38974064	38974064	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:38974064G>A	ENST00000355481.4	+	33	4973	c.4842G>A	c.(4840-4842)gtG>gtA	p.V1614V	RYR1_ENST00000360985.3_Silent_p.V1614V|RYR1_ENST00000359596.3_Silent_p.V1614V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1614	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCTGCAGGTGGAGACGAGGC	0.697000													5	10					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36871096	36871096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:36871096C>T	ENST00000301807.6	-	22	8883	c.6986G>A	c.(6985-6987)cGa>cAa	p.R2329Q	TRANK1_ENST00000428977.2_Missense_Mutation_p.R2329Q|TRANK1_ENST00000429976.2_Missense_Mutation_p.R2879Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2879					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAACCAGTCTCGTGCATCCCT	0.483000													56	65					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688275	60688275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:60688275G>A	ENST00000335712.6	-	4	1999	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V	BCL11A_ENST00000358510.4_Missense_Mutation_p.A557V|BCL11A_ENST00000356842.4_Missense_Mutation_p.A591V|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.A557V|BCL11A_ENST00000537768.1_Missense_Mutation_p.A260V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	591					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGACTCGCCGGCCACCGAGTC	0.682000			T	IGH@	B-CLL								45	66					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37299634	37299634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:37299634C>T	ENST00000231498.3	-	31	3801	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	NUP155_ENST00000513532.1_Missense_Mutation_p.E1136K|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.E1141K	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1200					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.E1200K(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTTGCACTCTGCAAGTTTA	0.368000													52	72					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98606064	98606064	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:98606064C>T	ENST00000359863.4	+	69	10985	c.10776C>T	c.(10774-10776)tcC>tcT	p.S3592S	TRRAP_ENST00000355540.3_Silent_p.S3563S|TRRAP_ENST00000446306.3_Silent_p.S3581S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3592	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCACTTTCCCTTGTGGAGA	0.617000													87	247					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54841879	54841879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:54841879C>T	ENST00000545554.1	+	27	5867	c.5867C>T	c.(5866-5868)tCc>tTc	p.S1956F	UNC13C_ENST00000537900.1_Missense_Mutation_p.S1954F|UNC13C_ENST00000260323.11_Missense_Mutation_p.S1956F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1956	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGACAATTATCCAAACTGAAG	0.348000													36	51					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42857277	42857277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:42857277G>A	ENST00000307602.4	+	17	1848	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	550					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGCTTGAAGAACATCTGTA	0.333000			T	RET	papillary thyroid								16	53					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134659723	134659723	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:134659723C>T	ENST00000368586.5	-	44	6376	c.6276G>A	c.(6274-6276)tcG>tcA	p.S2092S	TTC40_ENST00000263170.5_Silent_p.S253S	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	253										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCTCTGAGGCCGAGCAGCTCT	0.687000													9	26					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266138	65266138	+	RNA	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:65266138A>T	ENST00000534336.1	+	0	906					NR_002819.2																						TCACACTTTAATCTTCCTTCA	0.458000													46	96					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27480641	27480641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:27480641G>A	ENST00000263980.3	-	1	760	c.185C>T	c.(184-186)aCc>aTc	p.T62I	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Missense_Mutation_p.T62I	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	62					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CGGTGGAGCGGTGGTGACATC	0.607000													66	165					0	0	1	0	0
ACOT6	641372	broad.mit.edu	37	14	74086379	74086379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:74086379C>T	ENST00000381139.1	+	2	791	c.460C>T	c.(460-462)Cct>Tct	p.P154S	RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	154						cytosol	carboxylesterase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ACCTTATTTTCCTCCTTCTAG	0.483000													30	24					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173776424	173776424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:173776424G>A	ENST00000356198.2	-	4	686	c.401C>T	c.(400-402)cCg>cTg	p.P134L	CENPL_ENST00000345664.6_Missense_Mutation_p.P134L|CENPL_ENST00000367710.3_Missense_Mutation_p.P134L	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	134					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAATGCTTCCGGGTCCCTTTG	0.363000													16	32					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18343095	18343095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:18343095C>T	ENST00000251900.4	-	4	253	c.94G>A	c.(94-96)Gat>Aat	p.D32N		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	32					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CAGTGGAAATCATCTGGAAAA	0.363000													58	3					0	0	1	0	0
GSTK1	373156	broad.mit.edu	37	7	142961652	142961652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142961652C>T	ENST00000479303.1	+	3	224	c.166C>T	c.(166-168)Cca>Tca	p.P56S	GSTK1_ENST00000409500.3_Missense_Mutation_p.P56S|GSTK1_ENST00000358406.5_Missense_Mutation_p.P56S|GSTK1_ENST00000443571.2_Intron|GSTK1_ENST00000494735.1_3'UTR|AC073342.12_ENST00000427392.1_RNA	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	56						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AAACAAGCCTCCAGGTCTGCT	0.532000													69	213					0	0	1	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864560	102864560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:102864560G>A	ENST00000372628.1	+	3	926	c.568G>A	c.(568-570)Ggc>Agc	p.G190S	TCEAL3_ENST00000243286.3_Missense_Mutation_p.G190S|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.G190S			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TGGAGGTAGGGGCCAGAGGGG	0.517000													9	185					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38927433	38927433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38927433C>T	ENST00000335552.4	-	2	545	c.497G>A	c.(496-498)aGa>aAa	p.R166K		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	166	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGCGGTCAGTCTGGCATTGTC	0.308000													16	52					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673030	186673030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:186673030G>A	ENST00000343098.5	+	17	19264	c.19264G>A	c.(19264-19266)Gaa>Aaa	p.E6422K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6333K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAAGTCTAAGGAAAAGTCTTC	0.353000													10	16					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096626	167096626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:167096626G>A	ENST00000361200.2	+	6	2424	c.2258G>A	c.(2257-2259)aGc>aAc	p.S753N	DUSP27_ENST00000443333.1_Missense_Mutation_p.S753N|DUSP27_ENST00000271385.5_Missense_Mutation_p.S753N|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	753					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						TCTGTTGCAAGCATGAAGGCA	0.542000													65	109					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27143381	27143381	+	Splice_Site	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:27143381A>C	ENST00000343028.4	-	6	1094		c.e6+1		TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3							integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CCACATACTCACCTAGGGAAG	0.438000													27	102					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433232	40433232	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40433232T>G	ENST00000221347.6	-	2	1044	c.1037A>C	c.(1036-1038)tAt>tCt	p.Y346S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	346	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTGACCACATAGGCTGGGCA	0.582000													31	60					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122538687	122538687	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:122538687C>T	ENST00000264357.5	+	10	1714	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	GRIA3_ENST00000542149.1_Silent_p.I474I|GRIA3_ENST00000371251.1_Silent_p.I474I|GRIA3_ENST00000371256.5_Silent_p.I474I|GRIA3_ENST00000541091.1_Silent_p.I458I	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	474					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AATTGTCCATCGTTGGTGACG	0.418000													117	10					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112567	64112567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:64112567G>A	ENST00000356786.5	+	14	2598	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	852					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGGAGAGCGAGGGCCGCCA	0.726000													5	8					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057884	63057884	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:63057884C>T	ENST00000332793.6	+	1	249	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Silent_p.L31L	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	83						integral to membrane	transmembrane transporter activity	p.L83M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGACTCAAATCTGAGGCCAGA	0.498000													53	81					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18331234	18331234	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:18331234C>T	ENST00000355502.3	-	10	1558	c.687G>A	c.(685-687)gtG>gtA	p.V229V	PDE4C_ENST00000262805.11_Silent_p.V197V|PDE4C_ENST00000594617.2_Silent_p.V229V|PDE4C_ENST00000594465.2_Silent_p.V229V|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Silent_p.V123V|PDE4C_ENST00000539010.1_5'UTR			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	229					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCATCTCCCCCACCGAGTGCC	0.647000													56	91					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647730	92647730	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:92647730C>T	ENST00000318445.6	+	4	1181	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.L323L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	323					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GAGGCACCCCCTGGAGCCAGA	0.617000													23	40					0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959248	183959248	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:183959248G>A	ENST00000502308.1	+	0	431					NR_003612.1																						AAATGAAACGGGATGACCCCA	0.428000													10	9					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726547	25726547	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:25726547G>C	ENST00000297012.3	-	1	243	c.209C>G	c.(208-210)gCg>gGg	p.A70G		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	70					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A70E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATCGCGAGACGCATTGCCTGC	0.517000													49	67					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719193	42719193	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:42719193C>T	ENST00000230882.4	+	10	1774	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	GHR_ENST00000357703.3_Silent_p.F506F|GHR_ENST00000537449.1_Silent_p.F341F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	528					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGAAAACTTCCTTATGGACA	0.498000													29	45					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154456751	154456751	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:154456751C>T	ENST00000304760.2	-	6	1448	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	454	SH2.									breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGTCTGATTCAGTGTGTATT	0.433000													36	34					0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52188700	52188700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:52188700C>T	ENST00000308580.7	+	7	993	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.R238W	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	238						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TGCAGCCACCCGGAGCAATGA	0.398000													79	118					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38927434	38927434	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38927434T>A	ENST00000335552.4	-	2	544	c.496A>T	c.(496-498)Aga>Tga	p.R166*		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	166	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GCGGTCAGTCTGGCATTGTCA	0.313000													16	52					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135300380	135300380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:135300380C>T	ENST00000367837.5	-	14	1830	c.1624G>A	c.(1624-1626)Gac>Aac	p.D542N	HBS1L_ENST00000367824.4_Missense_Mutation_p.D378N|HBS1L_ENST00000367826.2_Missense_Mutation_p.D500N|HBS1L_ENST00000527578.1_Missense_Mutation_p.D378N|HBS1L_ENST00000415177.2_Missense_Mutation_p.D477N|HBS1L_ENST00000445176.2_Missense_Mutation_p.D266N	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	542					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GCCGCCCAGTCGACAGGTTCA	0.428000													25	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569693	179569693	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179569693C>T	ENST00000589042.1	-	104	29829	c.29604_splice	c.e104-1	p.E9869_splice	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.E8625_splice|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Splice_Site_p.E9552_splice|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9552	Pro-rich.						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)			TCCTCAATTTCCTGAGAAGAA	0.373000													47	58					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927093	130927093	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:130927093G>A	ENST00000261655.4	-	8	916	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RIMBP2_ENST00000535703.1_Silent_p.F159F|RIMBP2_ENST00000536002.1_Silent_p.F159F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	251						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AATGGTTGATGAAGTTCTGAT	0.607000													58	134					0	0	1	0	0
SORD	6652	broad.mit.edu	37	15	45357500	45357500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:45357500G>A	ENST00000267814.9	+	5	637	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	SORD_ENST00000558580.1_Missense_Mutation_p.A132T	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	153					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TGAGGAAGGCGCCCTGATCGA	0.488000													50	194					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821040	206821040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:206821040C>T	ENST00000367106.1	+	4	910	c.437C>T	c.(436-438)cCa>cTa	p.P146L	DYRK3_ENST00000367108.3_Missense_Mutation_p.P146L|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.P166L			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	166					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATTAATTATCCAGAAATTTAC	0.423000													44	79					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55151984	55151984	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:55151984G>A	ENST00000414150.2	+	15	2852	c.2574G>A	c.(2572-2574)gtG>gtA	p.V858V	MROH7_ENST00000421030.2_Silent_p.V858V|MROH7_ENST00000409996.1_Silent_p.V426V|MROH7_ENST00000339553.5_Silent_p.V858V|MROH7_ENST00000454855.2_Silent_p.V376V|MROH7_ENST00000545244.1_Silent_p.V426V|MROH7_ENST00000395690.2_Silent_p.V858V					maestro heat-like repeat family member 7																		TGGGCCGTGTGAGGCGCATCT	0.647000													24	73					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417739	57417739	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:57417739C>T	ENST00000543257.1	-	6	1058	c.492G>A	c.(490-492)gtG>gtA	p.V164V	C8B_ENST00000535057.1_Silent_p.V154V|C8B_ENST00000371237.4_Silent_p.V216V	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	216	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTAGCTTTCCACATTGTAGG	0.552000													75	45					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267485	107267485	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:107267485C>T	ENST00000334726.2	+	1	1031	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATACTGCCTTCATTTCCATCC	0.338000													35	5					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95234484	95234484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:95234484G>A	ENST00000237853.4	-	8	1334	c.985C>T	c.(985-987)Cct>Tct	p.P329S	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	329					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTCATTAAAGGATCAATAAAC	0.393000													98	113					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584535	179584535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179584535G>A	ENST00000589042.1	-	82	23908	c.23684C>T	c.(23683-23685)cCc>cTc	p.P7895L	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6651L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7578L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7578	Ig-like 61.						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)			CATGGGTTCGGGCTTCTCTAT	0.398000													14	24					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2266817	2266817	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:2266817G>C	ENST00000268989.3	+	7	908	c.731G>C	c.(730-732)cGc>cCc	p.R244P	SGSM2_ENST00000574563.1_Missense_Mutation_p.R244P|SGSM2_ENST00000426855.2_Missense_Mutation_p.R244P	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	244			R -> S (in dbSNP:rs17853888).			intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GCCTGTGCCCGCGAGTGTGTG	0.637000													14	45					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361825	51361825	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:51361825T>C	ENST00000360617.3	+	4	604	c.604T>C	c.(604-606)Tgg>Cgg	p.W202R	KLK3_ENST00000595952.1_Missense_Mutation_p.W159R|KLK3_ENST00000593997.1_Missense_Mutation_p.W202R|KLK3_ENST00000326003.2_Missense_Mutation_p.W202R|KLK3_ENST00000597483.1_Missense_Mutation_p.W159R			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	202	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGCTGGACGCTGGACAGGGGG	0.522000													95	112					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49573328	49573328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:49573328C>T	ENST00000221444.1	-	2	1718	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	455						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCTCACACTTCGGTGACCAGG	0.652000													120	151					0	0	1	0	0
LOC286238	286238	broad.mit.edu	37	9	91262385	91262385	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:91262385C>T	ENST00000418343.2	-	0	366																											GAAGCATGTCCCGTGTCTGCC	0.433000													54	4					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110864826	110864826	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:110864826C>T	ENST00000375820.4	-	6	446	c.324_splice	c.e6-1	p.G109_splice	COL4A1_ENST00000543140.1_Splice_Site_p.G109_splice	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	109					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGAATTCCCTGCAATGAA	0.468000													72	230					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40937371	40937371	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40937371G>A	ENST00000246914.5	+	6	1368	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	449					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACGACGGCGAGAAGCCGGGCC	0.701000													13	20					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734196	28734196	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:28734196G>A	ENST00000550043.1	+	0	601																											TCAGCATGAGGAACACGAGCG	0.498000													18	44					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133767884	133767884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:133767884G>A	ENST00000367895.5	+	4	664	c.200G>A	c.(199-201)gGg>gAg	p.G67E	EYA4_ENST00000431403.2_Missense_Mutation_p.G67E|EYA4_ENST00000430974.2_Missense_Mutation_p.G67E|EYA4_ENST00000531901.1_Missense_Mutation_p.G67E|EYA4_ENST00000355286.6_Missense_Mutation_p.G67E|EYA4_ENST00000525849.1_Missense_Mutation_p.G67E|EYA4_ENST00000355167.3_Missense_Mutation_p.G67E|EYA4_ENST00000452339.2_Missense_Mutation_p.G67E	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	67					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACTACAAATGGGACAGGAGGT	0.378000													30	32					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27362507	27362507	+	Silent	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:27362507G>T	ENST00000521400.1	+	4	811	c.381G>T	c.(379-381)ctG>ctT	p.L127L	EPHX2_ENST00000380476.3_Silent_p.L74L|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000518379.1_Silent_p.L127L|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Silent_p.L61L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	127	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	ACACCTGGCTGGACGACCGTG	0.527000													26	31					1.02151e-06	1.03047e-06	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49447822	49447822	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:49447822G>A	ENST00000301067.7	-	5	611	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCATGGATAGGAAGGAACCGC	0.582000													36	4					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54231935	54231935	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:54231935C>A	ENST00000401642.3	-	1	307	c.174G>T	c.(172-174)gaG>gaT	p.E58D	SCFD2_ENST00000388940.4_Missense_Mutation_p.E58D	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	58					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGGGCTCGAACTCTCGCAGGT	0.652000													99	104					3.54964e-55	3.66099e-55	1	1	0
LCK	3932	broad.mit.edu	37	1	32745809	32745809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:32745809C>T	ENST00000333070.4	+	12	1515	c.1415C>T	c.(1414-1416)cCa>cTa	p.P472L	LCK_ENST00000373564.3_Missense_Mutation_p.P449L|LCK_ENST00000336890.5_Missense_Mutation_p.P442L	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	442	Protein kinase.			L -> H (in Ref. 13; CAA29667).	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)	ATCCCTTACCCAGGTTAGAGC	0.498000			T	TRB@	T-ALL								17	95					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340268	39340268	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:39340268C>T	ENST00000357771.3	-	2	1783	c.1503G>A	c.(1501-1503)acG>acA	p.T501T	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Silent_p.T501T|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000454994.2_Intron	NM_030772.4	NP_110399.2	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	501					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TGAGATTGTTCGTTAGGGACA	0.448000													151	58					0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12534916	12534916	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:12534916G>A	ENST00000538608.1	+	9	784	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PARVA_ENST00000334956.8_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000539723.1_Intron			Q9NVD7	PARVA_HUMAN	parvin, alpha	172					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		AGGTGGGAAAGGGGTGCCTGG	0.527000													20	144					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30676073	30676073	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30676073C>T	ENST00000376406.3	-	8	2930	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	761				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTCAGAGTCCTCAGACTCTC	0.562000								Other conserved DNA damage response genes					33	50					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902126	74902126	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:74902126C>T	ENST00000357877.2	+	9	1262	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Silent_p.V216V	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	371	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCCTGTCGTGGACAATG	0.532000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	88					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	169053761	169053761	+	Missense_Mutation	SNP	C	C	T	rs148539759		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:169053761C>T	ENST00000354536.5	+	11	1391	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	SMOC2_ENST00000356284.2_Missense_Mutation_p.R380C	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	380	EF-hand 2.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GAGGTTCCTTCGCAAAAAATC	0.433000													36	22					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	33980919	33980919	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:33980919G>A	ENST00000244137.6	-	6	519	c.486C>T	c.(484-486)tcC>tcT	p.S162S	PEPD_ENST00000436370.3_Silent_p.S98S|PEPD_ENST00000397032.4_Silent_p.S162S	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	162					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					TGCCGTCAAAGGAGGCCTCCC	0.622000													17	32					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739325	38739325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38739325C>T	ENST00000449082.2	-	27	5385	c.5386G>A	c.(5386-5388)Gat>Aat	p.D1796N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1796					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGATCTTATCTCCAGGGACC	0.478000													21	37					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570432	61570432	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:61570432A>G	ENST00000457692.1	+	9	1474	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A	SERPINB2_ENST00000299502.4_Missense_Mutation_p.T381A	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	381		Reactive bond.			anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GACAGGGAGAACTGGACATGG	0.458000													17	46					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366207	40366207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40366207C>T	ENST00000221347.6	-	30	14034	c.14027G>A	c.(14026-14028)gGc>gAc	p.G4676D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4676	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCAGCGGGCCGTCGGTGGC	0.701000													34	95					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970084	118970084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:118970084G>A	ENST00000515256.1	+	3	813	c.641G>A	c.(640-642)aGa>aAa	p.R214K				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	214						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GACACACCCAGAGCCAAGACT	0.597000													82	13					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117027810	117027810	+	Silent	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:117027810T>C	ENST00000355044.3	+	13	2115	c.1989T>C	c.(1987-1989)tcT>tcC	p.S663S		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	663						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TAGCTGCTTCTGATGACAGAT	0.358000													20	70					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:59010865G>A	ENST00000263093.2	-	7	1770	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000													31	41					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119962576	119962576	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:119962576G>A	ENST00000464295.1	-	3	589	c.144C>T	c.(142-144)gtC>gtT	p.V48V	GPR156_ENST00000315843.3_Silent_p.V48V|GPR156_ENST00000461057.1_Silent_p.V48V			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	48						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TACCCAAGAGGACAGGAGATA	0.443000													37	27					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29695761	29695761	+	Silent	SNP	C	C	T	rs111270799	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:29695761C>T	ENST00000397938.2	+	16	2170	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G	EWSR1_ENST00000331029.7_Silent_p.G579G|EWSR1_ENST00000332035.6_Silent_p.G561G|EWSR1_ENST00000406548.1_Silent_p.G616G|EWSR1_ENST00000414183.2_Silent_p.G622G|EWSR1_ENST00000332050.6_Silent_p.G544G	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	617	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GACGAGGTGGCCCTGGGGGGC	0.597000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								11	5					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13338045	13338045	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:13338045G>A	ENST00000380622.2	-	1	473	c.9C>T	c.(7-9)ttC>ttT	p.F3F	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	3	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CATGAAAGATGAAATCCATGT	0.433000													6	2					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35857148	35857148	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:35857148C>T	ENST00000303115.3	+	1	198	c.69C>T	c.(67-69)ggC>ggT	p.G23G	IL7R_ENST00000511982.1_Silent_p.G23G|IL7R_ENST00000511031.1_Intron|IL7R_ENST00000343305.4_Silent_p.G23G|IL7R_ENST00000506850.1_Silent_p.G23G	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	23					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGAAAGTGGCTATGCTCAAA	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						44	81					0	0	1	0	0
EPT1	85465	broad.mit.edu	37	2	26607985	26607985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:26607985G>A	ENST00000260585.7	+	8	1009	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	297					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										TTTATGGTTGGAACAGCTTTT	0.308000													11	3					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111221	57111221	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:57111221A>T	ENST00000454682.1	-	3	4374	c.4093T>A	c.(4093-4095)Tcc>Acc	p.S1365T	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCTCTTTGGAGGATGGAGTA	0.617000			T	BCL6	NHL								12	1					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35750560	35750560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:35750560G>A	ENST00000187397.4	+	11	1351	c.895G>A	c.(895-897)Gat>Aat	p.D299N	ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000337271.5_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	299						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATTTGCACACGATGTGAGTAG	0.438000													28	42					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964946	88964946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:88964946G>A	ENST00000333190.4	+	4	3259	c.2650G>A	c.(2650-2652)Gga>Aga	p.G884R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	884						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGTGATCTGGGAAAAGTCAG	0.433000										HNSCC(36;0.09)			18	27					0	0	1	0	0
UBAP1	51271	broad.mit.edu	37	9	34241423	34241423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:34241423C>T	ENST00000536252.1	+	5	798	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	UBAP1_ENST00000540348.1_Missense_Mutation_p.R134W|UBAP1_ENST00000543944.1_Missense_Mutation_p.R170W|UBAP1_ENST00000545103.1_Missense_Mutation_p.R198W|UBAP1_ENST00000297661.4_Missense_Mutation_p.R134W|UBAP1_ENST00000379186.4_Missense_Mutation_p.R134W|UBAP1_ENST00000359544.2_Missense_Mutation_p.R134W	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	134						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CACACCAACTCGGGTCAGCAG	0.493000													61	7					0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235286	50235286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:50235286G>A	ENST00000242827.6	-	4	489	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_Missense_Mutation_p.P77L|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	147					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CACTCTGGGAGGAAGGTCATC	0.542000													50	81					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45421618	45421618	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:45421618A>C	ENST00000331493.2	+	7	805	c.394A>C	c.(394-396)Aag>Cag	p.K132Q	ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.K132Q|ITGB3_ENST00000435993.2_3'UTR	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		CAGCGTTCACAAGACTTCATC	0.393000													30	158					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36211256	36211256	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:36211256G>T	ENST00000222270.7	+	3	1007	c.1007G>T	c.(1006-1008)tGg>tTg	p.W336L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Missense_Mutation_p.W336L|WBP7_ENST00000420124.1_Missense_Mutation_p.W336L	NM_014727.1	NP_055542.1																					GAGGAAAGTTGGCAGGATGTC	0.468000													16	12					9.16793e-09	9.25409e-09	1	1	0
DEAF1	10522	broad.mit.edu	37	11	679783	679783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:679783G>A	ENST00000382409.3	-	8	1515	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	DEAF1_ENST00000338675.6_Missense_Mutation_p.S255L|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	344					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGTGCCCCCGAGGTCGTGAT	0.652000													45	49					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86564657	86564657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:86564657C>T	ENST00000274376.6	+	1	953	c.389C>T	c.(388-390)cCa>cTa	p.P130L		NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	130					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACTCTCGGGCCAGGCGGCGGT	0.647000													40	73					0	0	1	0	0
ARMS2	387715	broad.mit.edu	37	10	124214457	124214457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:124214457C>T	ENST00000528446.1	+	1	289	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	72					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCTAAAATCCACACTGAGCT	0.527000													12	29					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102769132	102769132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:102769132G>A	ENST00000417955.1	-	2	246	c.92C>T	c.(91-93)tCc>tTc	p.S31F	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.S31F|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.S31F|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.S31F|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.S104F			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	31					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACTTGCTCCGGAATTCCGTGC	0.388000													33	16					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74914157	74914157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:74914157G>A	ENST00000372979.4	-	6	846	c.640C>T	c.(640-642)Cca>Tca	p.P214S	ECD_ENST00000454759.1_Missense_Mutation_p.P214S|ECD_ENST00000430082.1_Missense_Mutation_p.P214S	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	214					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ATGCCAGCTGGAAGGAAGCAG	0.473000													15	25					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108476006	108476006	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:108476006G>A	ENST00000295755.6	-	1	225	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	9					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGATTAGGATGAGAAGGAGGC	0.517000													15	52					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113350325	113350325	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:113350325C>A	ENST00000458497.1	+	10	1095	c.816C>A	c.(814-816)gaC>gaA	p.D272E	ALPK1_ENST00000177648.9_Missense_Mutation_p.D272E|ALPK1_ENST00000504176.2_Missense_Mutation_p.D194E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	272							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGAGTTTGACCACCATTTGC	0.493000													84	191					3.86339e-31	3.94919e-31	1	1	0
MUC16	94025	broad.mit.edu	37	19	9049484	9049484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9049484G>A	ENST00000397910.4	-	5	32350	c.32147C>T	c.(32146-32148)cCt>cTt	p.P10716L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10718	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGCCCCAGGACTGGTGGC	0.478000													204	240					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73567295	73567295	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:73567295C>T	ENST00000224721.6	+	58	8351	c.8346C>T	c.(8344-8346)ttC>ttT	p.F2782F	CDH23_ENST00000398788.3_Silent_p.F537F|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2777	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGAAGAACTTCCATCTGCAGC	0.622000													44	30					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71533542	71533542	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:71533542G>A	ENST00000393330.2	-	7	762	c.210C>T	c.(208-210)ggC>ggT	p.G70G	TSPAN8_ENST00000546561.1_Silent_p.G70G|TSPAN8_ENST00000247829.3_Silent_p.G70G			P19075	TSN8_HUMAN	tetraspanin 8	70					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATCCCAGGAAGCCCAGAATCA	0.458000													637	91					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75938336	75938336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:75938336G>A	ENST00000307428.7	+	2	957	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	249					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GATCATGCAGGAAGTAGAACA	0.463000													14	54					0	0	1	0	0
CDK2AP2	10263	broad.mit.edu	37	11	67274939	67274939	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:67274939G>A	ENST00000301488.3	-	3	758	c.210C>T	c.(208-210)tcC>tcT	p.S70S	CDK2AP2_ENST00000531506.1_Silent_p.S70S	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	70										lung(1)	1						AGGTGCTCTGGGAGCCCTGGG	0.612000													85	103					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151788952	151788952	+	Silent	SNP	C	C	T	rs138956153	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:151788952C>T	ENST00000535741.1	-	22	3110	c.2637G>A	c.(2635-2637)aaG>aaA	p.K879K	LRBA_ENST00000357115.3_Silent_p.K879K|LRBA_ENST00000507224.1_Silent_p.K879K|LRBA_ENST00000510413.1_Silent_p.K879K			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	879						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CATCTGAATTCTTAGGATTAA	0.403000													75	64					0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172582223	172582223	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:172582223G>A	ENST00000534253.2	+	8	775	c.607_splice	c.e8+1	p.A203_splice	DYNC1I2_ENST00000397119.3_Splice_Site_p.A203_splice|DYNC1I2_ENST00000409773.1_Splice_Site_p.A203_splice|DYNC1I2_ENST00000410079.3_Splice_Site_p.A195_splice|DYNC1I2_ENST00000508530.1_Splice_Site_p.A177_splice|DYNC1I2_ENST00000409453.1_Splice_Site_p.A203_splice|DYNC1I2_ENST00000409317.1_Splice_Site_p.A197_splice|DYNC1I2_ENST00000409197.1_Splice_Site_p.A177_splice|DYNC1I2_ENST00000358002.6_Splice_Site_p.A195_splice|DYNC1I2_ENST00000340296.4_Splice_Site_p.A177_splice|DYNC1I2_ENST00000263811.4_Splice_Site_p.A197_splice			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	203					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	p.A203S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGATAGTAAAGGTATCTTAAG	0.294000													3	9					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90281316	90281316	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:90281316C>A	ENST00000268130.7	+	16	1911	c.1810C>A	c.(1810-1812)Caa>Aaa	p.Q604K	WDR93_ENST00000560294.1_Missense_Mutation_p.Q576K|WDR93_ENST00000444934.2_Missense_Mutation_p.Q321K	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	604					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCTGGAATCCAATATTCTGT	0.428000													175	310					7.67855e-60	7.92958e-60	1	1	0
NACA	4666	broad.mit.edu	37	12	57111289	57111289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:57111289G>A	ENST00000454682.1	-	3	4306	c.4025C>T	c.(4024-4026)tCc>tTc	p.S1342F	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCTTTAGGGGAGGGAGGAGT	0.637000			T	BCL6	NHL								31	6					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010230	35010230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:35010230C>T	ENST00000231420.6	-	12	1413	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	405					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGACTGTTTTCCTGTAGATTT	0.398000													67	63					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89245980	89245980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:89245980C>T	ENST00000289746.2	+	2	264	c.199C>T	c.(199-201)Cag>Tag	p.Q67*	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	67	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCCCCTGGTTCAGGTGAGCAG	0.692000													70	19					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49082620	49082620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:49082620G>A	ENST00000262013.7	-	12	1637	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SPAG9_ENST00000357122.4_Missense_Mutation_p.R463W|SPAG9_ENST00000510283.1_Missense_Mutation_p.R320W|SPAG9_ENST00000505279.1_Missense_Mutation_p.R463W	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	477					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.R463W(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTTCTGCCCGAGCTCTAGTG	0.343000													22	25					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99380380	99380380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:99380380G>A	ENST00000370188.3	-	5	1255	c.895C>T	c.(895-897)Cga>Tga	p.R299*	LPPR5_ENST00000263177.4_Nonsense_Mutation_p.R299*	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		299						integral to membrane	hydrolase activity										CTTTCTACTCGAGGAATGCTG	0.358000													54	30					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427751	27427751	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:27427751G>A	ENST00000310574.3	-	8	1256	c.783C>T	c.(781-783)ttC>ttT	p.F261F	SLC5A6_ENST00000408041.1_Silent_p.F261F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	261					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGACACCCCCGAAGGCCAAGG	0.582000													51	93					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462575	66462575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:66462575C>T	ENST00000404260.3	+	29	7885	c.7577C>T	c.(7576-7578)tCc>tTc	p.S2526F	MAST4_ENST00000403666.1_Missense_Mutation_p.S2334F|MAST4_ENST00000261569.7_Missense_Mutation_p.S2329F|MAST4_ENST00000405643.1_Missense_Mutation_p.S2344F|MAST4_ENST00000403625.2_Missense_Mutation_p.S2523F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2526						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCCTGCCCTCCTTCCGGGTC	0.667000													10	12					0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67974200	67974200	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:67974200G>A	ENST00000264005.5	-	6	959	c.930C>T	c.(928-930)caC>caT	p.H310H		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	310					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CTTCCTCAAAGTGCAGGTCTG	0.572000													80	13					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135534100	135534100	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:135534100G>A	ENST00000372159.3	-	6	1012	c.861C>T	c.(859-861)atC>atT	p.I287I	DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000372153.1_Silent_p.I287I|DDX31_ENST00000310532.2_Silent_p.I287I|DDX31_ENST00000438527.3_Silent_p.I158I	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	287	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGACCACAGGGATGCAATAGG	0.373000													50	10					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121458807	121458807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:121458807G>A	ENST00000260197.7	+	28	4022	c.3893G>A	c.(3892-3894)gGa>gAa	p.G1298E	SORL1_ENST00000525532.1_Missense_Mutation_p.G242E|SORL1_ENST00000532694.1_Missense_Mutation_p.G144E|SORL1_ENST00000534286.1_Missense_Mutation_p.G208E	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1298	LDL-receptor class A 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCTGTGACGGAATCATCCAG	0.572000													34	111					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237580362	237580362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:237580362G>A	ENST00000366574.2	+	11	1104	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	RYR2_ENST00000360064.6_Missense_Mutation_p.E261K|RYR2_ENST00000542537.1_Missense_Mutation_p.E247K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	263	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTCATTATGAAGGTGGCGC	0.398000													12	33					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271591	17271591	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:17271591C>G	ENST00000544301.1	+	2	583	c.170C>G	c.(169-171)cCg>cGg	p.P57R	VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.P57R|VIM_ENST00000485947.1_3'UTR	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	57	Head.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTCGTCCCCGGGCGGCGTG	0.731000													2	10					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937974	76937974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:76937974G>A	ENST00000373344.5	-	9	2988	c.2774C>T	c.(2773-2775)tCt>tTt	p.S925F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S887F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	925					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCTTTCCCAGAAAGCTTATC	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						68	13					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131519695	131519695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:131519695C>T	ENST00000423981.1	+	2	160	c.50C>T	c.(49-51)tCc>tTc	p.S17F	AMER3_ENST00000321420.4_Missense_Mutation_p.S17F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CTGCAGGTTTCCCACGAGAAA	0.617000													14	42					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550948	169550948	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:169550948A>G	ENST00000340806.6	+	4	1507	c.1507A>G	c.(1507-1509)Aac>Gac	p.N503D		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	503										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGAAAACAGAAACAGGAATAT	0.413000													11	13					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826965	96826965	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:96826965C>T	ENST00000371270.3	-	3	575	c.481_splice	c.e3+1	p.A161_splice	CYP2C8_ENST00000539050.1_Splice_Site_p.A75_splice|CYP2C8_ENST00000535898.1_Splice_Site_p.A59_splice	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	161					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGTCACCCACCCTTGGTTTTT	0.507000													62	65					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26428952	26428952	+	RNA	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:26428952T>A	ENST00000466808.2	+	0	1386																											TTTAGCAGCATCTCATGACAT	0.428000													60	294					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73377129	73377129	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:73377129C>T	ENST00000224721.6	+	10	1133	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	CDH23_ENST00000461841.3_Silent_p.I416I|CDH23_ENST00000398809.4_Silent_p.I371I|CDH23_ENST00000299366.7_Silent_p.I416I|CDH23_ENST00000398842.3_Silent_p.I371I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	371	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACTCTTCATCCAGGTGGTGG	0.582000													24	56					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70889118	70889118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:70889118G>A	ENST00000393567.2	-	73	12506	c.12356C>T	c.(12355-12357)tCc>tTc	p.S4119F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4119								p.S4070F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTCCTGGAAGGAAAAATCGAA	0.527000													48	11					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478816	110478816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:110478816G>A	ENST00000378402.5	+	50	8527	c.8423G>A	c.(8422-8424)gGa>gAa	p.G2808E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2808					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGCACAAAGGACATACCGTC	0.403000										HNSCC(38;0.096)			7	5					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39550839	39550839	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:39550839A>T	ENST00000379631.4	-	2	492	c.148T>A	c.(148-150)Tgc>Agc	p.C50S	STOML3_ENST00000423210.1_Missense_Mutation_p.C41S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	50						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ACCTTCAAGCACATCCATATG	0.438000													17	28					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112022406	112022406	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:112022406C>T	ENST00000371959.3	-	10	2975	c.2976G>A	c.(2974-2976)gcG>gcA	p.A992A	AMOT_ENST00000524145.1_Silent_p.A992A|AMOT_ENST00000371962.1_Silent_p.A760A|AMOT_ENST00000304758.1_Silent_p.A583A	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	992					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AAGCCTGAGCCGCTGCTGGAG	0.622000													20	2					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179689405	179689405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:179689405C>T	ENST00000467460.1	-	2	400	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	PEX5L_ENST00000465751.1_Intron|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000485199.1_Missense_Mutation_p.E24K|PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000263962.8_Intron|PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000468741.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	24					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			acaattatttcgaggtcttca	0.313000													10	14					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000351	46000351	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:46000351G>A	ENST00000400372.1	-	1	130	c.105C>T	c.(103-105)ccC>ccT	p.P35P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	35	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGGTCAGGCAGGGGGCGGTGC	0.692000													78	137					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186954120	186954120	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:186954120C>T	ENST00000296280.6	-	11	1764	c.1539G>A	c.(1537-1539)aaG>aaA	p.K513K	MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.K400K	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	511	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGACATGCTCCTTGGAGACTG	0.597000													70	68					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151121946	151121946	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:151121946C>T	ENST00000367328.1	+	7	1033	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	PLEKHG1_ENST00000358517.2_Silent_p.L241L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	241	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTCGCTGCCTCTGGGGTCCTA	0.502000													69	43					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64900543	64900543	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:64900543G>A	ENST00000526060.1	-	4	420	c.228C>T	c.(226-228)caC>caT	p.H76H	SYVN1_ENST00000307289.6_Silent_p.H76H|SYVN1_ENST00000377190.3_Silent_p.H76H|SYVN1_ENST00000294256.8_Silent_p.H76H			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	76					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GTTCCAGAAGGTGCTGGGGGC	0.552000													47	72					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039340	11039340	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:11039340C>T	ENST00000470054.1	-	0	863									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAATTTGATCTTCGCCACAA	0.378000													20	247					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458565	142458565	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142458565C>T	ENST00000486171.1	+	2	217	c.200_splice	c.e2+1	p.S67_splice	PRSS1_ENST00000311737.7_Splice_Site_p.S67_splice			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	67	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGCTACAAGTCGTAAGTGTGG	0.582000													33	69					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166626759	166626759	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:166626759T>A	ENST00000392701.3	-	2	1227	c.452A>T	c.(451-453)aAt>aTt	p.N151I		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	151					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TGCGAAAGCATTAAAGCAGTG	0.403000													41	60					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:59010864G>A	ENST00000263093.2	-	7	1771	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_ENST00000601355.1_Silent_p.T470T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657000													31	41					0	0	1	0	0
MMD	23531	broad.mit.edu	37	17	53471726	53471726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:53471726C>T	ENST00000262065.3	-	7	982	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	229					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGTAGGACTTCGGTAAAGGTA	0.463000													122	173					0	0	1	0	0
TPT1	7178	broad.mit.edu	37	13	45914166	45914166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:45914166C>T	ENST00000379056.1	-	2	324	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	TPT1_ENST00000379055.1_Missense_Mutation_p.E52K|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000530705.1_Missense_Mutation_p.E86K|TPT1_ENST00000309246.5_Missense_Mutation_p.E86K|TPT1_ENST00000379060.4_Missense_Mutation_p.E74K			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	86					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TTGTAGGCTTCTTTTGTGAAA	0.433000													46	85					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1828258	1828258	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:1828258G>C	ENST00000518288.1	+	10	1126	c.963G>C	c.(961-963)aaG>aaC	p.K321N	ARHGEF10_ENST00000520359.1_Intron|ARHGEF10_ENST00000398560.1_Intron|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K296N|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K321N|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K321N			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	321					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGAGAAAAAGATGAGAGATT	0.493000													27	73					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137653787	137653787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:137653787C>T	ENST00000371817.3	+	19	2366	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	651	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTGGTCCTTCCGGCCCACCA	0.577000													42	84					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810973	123810973	+	Missense_Mutation	SNP	C	C	T	rs138187932		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:123810973C>T	ENST00000307033.2	+	1	724	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CTTCTGGGATCGTACACAGCA	0.517000													121	184					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135743399	135743399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:135743399C>T	ENST00000375845.3	-	7	3073	c.3043G>A	c.(3043-3045)Ggc>Agc	p.G1015S	MAP3K19_ENST00000392915.1_Missense_Mutation_p.G1032S|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G902S|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GTCTCTCTGCCCATTTCTTTT	0.403000													37	74					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88705380	88705380	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:88705380G>A	ENST00000372027.4	-	2	304	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	77	EMI.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGTGGATGAGGAATTTCTCTG	0.552000													16	30					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35790527	35790527	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:35790527G>A	ENST00000361922.4	+	5	636	c.486G>A	c.(484-486)ccG>ccA	p.P162P	MAG_ENST00000597035.1_3'UTR|MAG_ENST00000392213.3_Silent_p.P162P|MAG_ENST00000537831.2_Silent_p.P137P	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	162	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCATGGTGCCGGACAACTGCC	0.701000													21	37					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980951	75980951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:75980951G>A	ENST00000308508.5	-	3	2547	c.2455C>T	c.(2455-2457)Cca>Tca	p.P819S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	819	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGGAAGGTTGGGGGGCTTGGG	0.612000													78	124					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077809	9077809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9077809C>T	ENST00000397910.4	-	3	9840	c.9637G>A	c.(9637-9639)Gaa>Aaa	p.E3213K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3214	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCTGGGTTCCTTGGAGCTC	0.478000													104	118					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884600	228884600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:228884600G>A	ENST00000392056.3	-	7	1016	c.970C>T	c.(970-972)Cat>Tat	p.H324Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.H324Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	324						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTTCTGAATGATAATAATGT	0.413000													100	102					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	107016346	107016346	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:107016346G>A	ENST00000369066.3	+	20	5564		c.e20-1		AIM1_ENST00000535438.1_Splice_Site	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1								sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTTTCTTTTAGGGGGCACACA	0.393000													65	52					0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55950091	55950091	+	Silent	SNP	G	G	A	rs148211596	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:55950091G>A	ENST00000577830.1	-	5	1130	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CUEDC1_ENST00000577840.1_Silent_p.F102F|CUEDC1_ENST00000360238.2_Silent_p.F239F|CUEDC1_ENST00000407144.2_Silent_p.F239F	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	239										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGTTCTGCAGGAAAAGCGCGA	0.637000													90	128					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266729	1266729	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:1266729C>T	ENST00000447027.1	+	31	8686	c.8628C>T	c.(8626-8628)ccC>ccT	p.P2876P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P2873P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2873	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTGTGAGCCCCAGTGTGCCT	0.677000													97	126					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504028	95504028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:95504028G>A	ENST00000297591.5	-	22	4993	c.4918C>T	c.(4918-4920)Cgt>Tgt	p.R1640C	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1640					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTCTCTGACGAAAAATATCA	0.453000													17	71					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270669	185270669	+	Silent	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:185270669A>G	ENST00000367498.3	-	9	1414	c.792T>C	c.(790-792)caT>caC	p.H264H	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.H46H	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	264	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTATCTGCTTATGGCCATTCT	0.423000													17	78					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62149380	62149380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:62149380G>A	ENST00000433197.2	-	6	534	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	ERN1_ENST00000577567.1_5'UTR	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	147					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GATGGGCAGAGACTATCTGCA	0.463000													11	7					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144244968	144244968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:144244968G>A	ENST00000295095.6	+	9	897	c.730G>A	c.(730-732)Gat>Aat	p.D244N	RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	244					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGTGCTTCCGATACAAGCGA	0.338000													52	61					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27320720	27320720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:27320720C>T	ENST00000407991.1	-	6	1848	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	CHRNA2_ENST00000520933.2_Missense_Mutation_p.E414K|CHRNA2_ENST00000240132.2_Missense_Mutation_p.E399K	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	414						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ACCACCACCTCCCTCTCCTCG	0.667000													47	124					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115091157	115091157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:115091157C>T	ENST00000361283.1	+	3	2149	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	614	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TACTTTATTTCCTTCCTCAAA	0.358000													75	95					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090600	115090600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:115090600C>T	ENST00000361283.1	+	3	1592	c.1283C>T	c.(1282-1284)cCa>cTa	p.P428L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	428	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										CCACTATCCCCAGAGATCCGT	0.547000													70	77					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688274	60688274	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:60688274G>A	ENST00000335712.6	-	4	2000	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	BCL11A_ENST00000358510.4_Silent_p.A557A|BCL11A_ENST00000356842.4_Silent_p.A591A|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.A557A|BCL11A_ENST00000537768.1_Silent_p.A260A	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	591					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCGACTCGCCGGCCACCGAGT	0.682000			T	IGH@	B-CLL								46	68					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84630843	84630843	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:84630843T>C	ENST00000369681.4	+	8	747	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	203	CS.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TCAGAATGATTCCTTTAGAGC	0.264000													9	16					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18803458	18803458	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:18803458C>T	ENST00000377319.3	+	6	533	c.525_splice	c.e6+1	p.S175_splice	CACNB2_ENST00000324631.7_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000377315.4_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377328.1_Intron			Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	268	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGCAGAAATCGGTAAGTTTA	0.398000													18	38					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524701	161524701	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:161524701A>C	ENST00000356592.3	+	4	845	c.385A>C	c.(385-387)Aac>Cac	p.N129H	GABRG2_ENST00000414552.2_Missense_Mutation_p.N129H|GABRG2_ENST00000393933.4_Missense_Mutation_p.N34H|GABRG2_ENST00000361925.4_Missense_Mutation_p.N129H	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	129					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TTTGAAATTTAACAGCACCAT	0.353000													48	44					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102451	44102451	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:44102451G>C	ENST00000259746.9	+	2	313	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L	TMEM63B_ENST00000323267.6_Missense_Mutation_p.V44L			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	44						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CGTCCCCACCGTGCTGGCTCT	0.607000													8	191					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181765849	181765849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:181765849G>A	ENST00000526775.1	+	45	6233	c.6068G>A	c.(6067-6069)cGa>cAa	p.R2023Q	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2066Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2085Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2036Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1649Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2042Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1974Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2085					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGCGGGGACGATCAAAAGAG	0.557000													30	35					0	0	1	0	0
LSM10	84967	broad.mit.edu	37	1	36859378	36859378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:36859378G>A	ENST00000315732.2	-	2	502	c.353C>T	c.(352-354)cCc>cTc	p.P118L	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	118					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				GTTTTTTGGGGGAAATTCCCA	0.577000													36	148					0	0	1	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172247	21172247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:21172247G>A	ENST00000421593.2	+	2	151	c.151G>A	c.(151-153)Gga>Aga	p.G51R	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAAGTTAATTGGAATTGGTTG	0.328000													26	44					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138430021	138430021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:138430021C>T	ENST00000310018.2	-	14	1607	c.1325G>A	c.(1324-1326)tGg>tAg	p.W442*	ATP6V0A4_ENST00000393054.1_Nonsense_Mutation_p.W442*|ATP6V0A4_ENST00000353492.4_Nonsense_Mutation_p.W442*	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	442					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAAGGTGTTCCAAATCTGGCC	0.512000													49	110					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50416925	50416925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:50416925C>T	ENST00000435965.1	-	11	1263	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	CACNA2D2_ENST00000479441.1_Missense_Mutation_p.V364M|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V364M|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V364M|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V364M|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V364M|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V295M|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V364M			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	364	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CCCTTGGCCACCATGCCCTGC	0.597000													45	55					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43584211	43584211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:43584211C>T	ENST00000452443.2	-	4	528	c.524G>A	c.(523-525)aGa>aAa	p.R175K		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	175					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGTGATGAATCTTTCATGACC	0.502000													24	90					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417841	57417841	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:57417841G>A	ENST00000543257.1	-	6	956	c.390C>T	c.(388-390)ttC>ttT	p.F130F	C8B_ENST00000535057.1_Silent_p.F120F|C8B_ENST00000371237.4_Silent_p.F182F	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	182	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTGTTTGTGAACAAATTTA	0.443000													151	88					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580490	120580490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:120580490G>A	ENST00000300648.6	-	44	5662	c.5650C>T	c.(5650-5652)Cgg>Tgg	p.R1884W		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1884					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCAACACCCGGTTCCGCCGC	0.622000													55	48					0	0	1	0	0
RP11-445N18.7	0	broad.mit.edu	37	10	45648336	45648336	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:45648336C>T	ENST00000427229.2	+	0	1725																											GAAGAATTGTCTGAAAGAAAA	0.353000													8	3					0	0	1	0	0
YPEL3	83719	broad.mit.edu	37	16	30106190	30106190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:30106190C>T	ENST00000562641.1	-	3	833	c.304G>A	c.(304-306)Gag>Aag	p.E102K	YPEL3_ENST00000563788.1_Missense_Mutation_p.E64K|YPEL3_ENST00000566595.1_Missense_Mutation_p.E64K|YPEL3_ENST00000398838.4_Missense_Mutation_p.E64K|YPEL3_ENST00000398841.1_Missense_Mutation_p.E102K|YPEL3_ENST00000566134.1_Intron|YPEL3_ENST00000565479.1_5'UTR			P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	64						nucleolus				endometrium(1)|lung(2)	3						AGCACCCGCTCCTCGGCTGGC	0.637000													100	15					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16045048	16045048	+	Silent	SNP	C	C	T	rs140733161		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16045048C>T	ENST00000326742.7	-	1	172	c.171G>A	c.(169-171)caG>caA	p.Q57Q	CYP4F11_ENST00000402119.3_Silent_p.Q57Q|CYP4F11_ENST00000248041.7_Silent_p.Q57Q			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	57					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAACCAGTTCTGTTTCGGGG	0.612000													53	76					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119735494	119735494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:119735494G>A	ENST00000541757.1	+	9	895	c.515G>A	c.(514-516)gGa>gAa	p.G172E	MARCO_ENST00000327097.4_Missense_Mutation_p.G250E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	250	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGAGAAAGGAGACCTGGGT	0.597000													5	11					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18916692	18916692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:18916692G>A	ENST00000317977.6	+	9	1322	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.E334K|SLC5A10_ENST00000395642.1_Missense_Mutation_p.E251K|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	327					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						TGTCTATGAGGAGAGACACCA	0.627000													24	71					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3739121	3739121	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:3739121C>T	ENST00000541714.2	+	13	2082	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	TJP3_ENST00000539908.2_Silent_p.P504P|TJP3_ENST00000587686.1_Silent_p.P559P|TJP3_ENST00000589378.1_Silent_p.P549P|TJP3_ENST00000262968.9_Silent_p.P573P|TJP3_ENST00000382008.3_Silent_p.P554P	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	554	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATCATTCCCAACCAGAGCA	0.672000													117	130					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105187408	105187408	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:105187408C>T	ENST00000257700.2	+	5	798	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	189					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGGCAGCCTCCACTCTAGTGT	0.368000													58	42					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139611102	139611102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:139611102C>T	ENST00000303045.6	-	61	4671	c.4225G>A	c.(4225-4227)Gga>Aga	p.G1409R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1389R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1409	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGCCTTTTCCACCAGGAGGT	0.577000										HNSCC(7;0.00092)			8	44					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894440	151894440	+	Silent	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:151894440T>A	ENST00000367290.5	+	6	995	c.906T>A	c.(904-906)tcT>tcA	p.S302S	CCDC170_ENST00000239374.7_Silent_p.S302S			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	302																	AGAAAAGCTCTTCTGAGTTGG	0.498000													28	52					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144662304	144662304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:144662304C>T	ENST00000532741.1	-	7	2161	c.1933G>A	c.(1933-1935)Ggg>Agg	p.G645R	EEF1D_ENST00000532400.1_Silent_p.G44G|EEF1D_ENST00000531621.1_Missense_Mutation_p.G186R|EEF1D_ENST00000524624.1_Missense_Mutation_p.G205R|EEF1D_ENST00000528610.1_Missense_Mutation_p.G205R|EEF1D_ENST00000442189.2_Missense_Mutation_p.G595R|EEF1D_ENST00000526838.1_Missense_Mutation_p.G210R|EEF1D_ENST00000395119.3_Missense_Mutation_p.G229R|EEF1D_ENST00000423316.2_Missense_Mutation_p.G595R|EEF1D_ENST00000529272.1_Missense_Mutation_p.G229R|EEF1D_ENST00000419152.2_Missense_Mutation_p.G229R|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000317198.6_Missense_Mutation_p.G229R			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	229					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TTGGAAGCCCCCCAGACCAGC	0.617000													22	50					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462012	50462012	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:50462012G>A	ENST00000447370.2	-	7	1341	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	SIGLEC11_ENST00000426971.2_Silent_p.D417D	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	417	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGACCCCGGGGTCTGAGGGCT	0.677000													122	143					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579545	7579545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:7579545C>T	ENST00000420246.2	-	4	274	c.142G>A	c.(142-144)Gac>Aac	p.D48N	TP53_ENST00000455263.2_Missense_Mutation_p.D48N|TP53_ENST00000413465.2_Missense_Mutation_p.D48N|TP53_ENST00000445888.2_Missense_Mutation_p.D48N|TP53_ENST00000269305.4_Missense_Mutation_p.D48N|TP53_ENST00000359597.4_Missense_Mutation_p.D48N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	48	Interaction with HRMT1L2.		D -> G (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S46_D49delSPDD(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(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)		TCAATATCGTCCGGGGACAGC	0.592000		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)			347	236					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226030159	226030159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:226030159G>A	ENST00000366837.4	+	7	1220	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.D342N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	342					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ATACCTGGAGGATGGAGGCCT	0.572000													36	93					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450509	107450509	+	Missense_Mutation	SNP	G	G	A	rs138821621		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:107450509G>A	ENST00000409382.3	-	3	1647	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	346					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S346L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTTACCTGCGAATTAATGAT	0.393000													80	128					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886732	119886732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:119886732G>A	ENST00000464295.1	-	10	2037	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	GPR156_ENST00000315843.3_Missense_Mutation_p.S531L|GPR156_ENST00000461057.1_Missense_Mutation_p.S527L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	531						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGCTCCTCTGAGTTCTCCAG	0.582000													68	171					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65366005	65366005	+	Silent	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:65366005A>T	ENST00000309100.3	-	10	2786	c.2301T>A	c.(2299-2301)ccT>ccA	p.P767P	MAP3K11_ENST00000530153.1_Silent_p.P510P|MAP3K11_ENST00000532507.1_Silent_p.P183P	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	767	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCGAGGGCCGAGGTCGGCTGA	0.682000													22	29					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053059	11053059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:11053059G>A	ENST00000295082.1	+	1	997	c.507G>A	c.(505-507)tgG>tgA	p.W169*		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	169						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGTGCGTCTGGAAGTTCCTGG	0.687000													33	28					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7725482	7725482	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:7725482A>G	ENST00000507866.2	+	19	2592	c.2483A>G	c.(2482-2484)tAc>tGc	p.Y828C	SORCS2_ENST00000329016.9_Missense_Mutation_p.Y656C	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	828	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AAGGCCATGTACGTGAACCTT	0.607000													153	236					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109042520	109042520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:109042520G>A	ENST00000261401.3	-	10	1338	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	CORO1C_ENST00000549772.1_Missense_Mutation_p.S395F|CORO1C_ENST00000420959.2_Missense_Mutation_p.S442F|CORO1C_ENST00000421578.2_Missense_Mutation_p.S284F|CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000541050.1_Missense_Mutation_p.S389F	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	389					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GTGCTTCAAGGAGATGAGGAT	0.527000													33	4					0	0	1	0	0
CMPK2	129607	broad.mit.edu	37	2	6991588	6991588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:6991588G>A	ENST00000256722.5	-	4	1218	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	CMPK2_ENST00000404168.1_Missense_Mutation_p.R407C|CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	407					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACTTTTGACGAAACACACTG	0.542000													31	51					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181762858	181762858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:181762858C>T	ENST00000357570.5	+	45	6121	c.5809C>T	c.(5809-5811)Cct>Tct	p.P1937S	CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1967S|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1986S|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000358338.5_Intron			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1986					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATCTACCTTCCTTCGGACAC	0.507000													13	21					0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48309809	48309809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:48309809C>T	ENST00000354698.3	+	4	700	c.628C>T	c.(628-630)Cca>Tca	p.P210S	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	210					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAGAAACCCCAGGGTTTGG	0.478000													13	86					0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45924575	45924575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:45924575G>A	ENST00000300853.3	-	3	773	c.182C>T	c.(181-183)gCc>gTc	p.A61V	ERCC1_ENST00000013807.5_Missense_Mutation_p.A61V|ERCC1_ENST00000589165.1_Missense_Mutation_p.A61V|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Missense_Mutation_p.A61V|ERCC1_ENST00000340192.7_Missense_Mutation_p.A61V	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	61					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		GGCATATTCGGCGTAGGTCTG	0.637000								Nucleotide excision repair (NER)					52	81					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22924275	22924275	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:22924275G>A	ENST00000514473.2	-	0	225				TRDJ4_ENST00000390474.1_RNA																							GAACCTATCTGGAGGTACAAC	0.418000													16	34					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196198710	196198710	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:196198710A>G	ENST00000318037.3	-	6	2290	c.1696T>C	c.(1696-1698)Ttt>Ctt	p.F566L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	566					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CATCTCTGAAACATCTGAAAA	0.403000													15	73					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2090052	2090052	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:2090052C>T	ENST00000544865.1	-	12	3477	c.2967G>A	c.(2965-2967)aaG>aaA	p.K989K	SMG6_ENST00000354901.4_Silent_p.K112K|SMG6_ENST00000536871.2_Silent_p.K112K|SMG6_ENST00000263073.5_Silent_p.K1020K			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1020					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGAGCAGCTCCTTCAGGTCCG	0.582000													15	44					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727768	154727768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:154727768C>T	ENST00000607772.1	-	13	1932	c.1388G>A	c.(1387-1389)cGg>cAg	p.R463Q	CNKSR3_ENST00000433165.2_Missense_Mutation_p.R288Q|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R383Q	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	463	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACTGAAATACCGGCAAAGGGC	0.572000													11	13					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146613	154146613	+	Silent	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:154146613A>G	ENST00000389740.2	-	1	891	c.792T>C	c.(790-792)tcT>tcC	p.S264S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	264						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCATCCCCCAGAGCGCCGCA	0.657000													47	31					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74963887	74963887	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:74963887G>A	ENST00000315127.4	-	3	574	c.393C>T	c.(391-393)tcC>tcT	p.S131S	EDC3_ENST00000568176.1_Silent_p.S131S|EDC3_ENST00000426797.3_Silent_p.S131S	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	131					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGCTGCGGGGAAACGGCAA	0.522000													79	96					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657064	76657064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:76657064C>T	ENST00000369950.3	-	14	2200	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	671	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			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)				CTGTCTATTTCCAGATGGAGT	0.418000													44	30					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5144378	5144378	+	Silent	SNP	C	C	T	rs149127752		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:5144378C>T	ENST00000159111.4	+	20	3074	c.2856C>T	c.(2854-2856)ttC>ttT	p.F952F	KDM4B_ENST00000536461.1_Silent_p.F986F	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	952	Tudor 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AAGTGAACTTCGACGATGGCT	0.637000													13	18					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94032105	94032105	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:94032105G>A	ENST00000282020.4	+	4	993		c.e4+1		GRID2_ENST00000510992.1_Splice_Site|GRID2_ENST00000505687.1_Splice_Site	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CATTACTGAGGTAAGTGAAAA	0.413000													33	30					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671560	45671560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:45671560C>T	ENST00000270172.3	-	9	1198	c.715G>A	c.(715-717)Gat>Aat	p.D239N	DNMT3L_ENST00000418993.1_Missense_Mutation_p.D239N	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	239					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TACACAAGATCGAAGGGTCCC	0.652000													46	35					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306852	99306852	+	Silent	SNP	C	C	T	rs115129932	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:99306852C>T	ENST00000336374.2	-	11	1061	c.1059G>A	c.(1057-1059)ttG>ttA	p.L353L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	353					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.L353>?(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAAGATACTCCAACTGTAGCA	0.378000													13	38					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941932	144941932	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:144941932G>A	ENST00000525985.1	-	2	5561	c.5490C>T	c.(5488-5490)atC>atT	p.I1830I				P58107	EPIPL_HUMAN	epiplakin 1	1830						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGTGGTGATGATTTCCAGCA	0.552000													176	116					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186953727	186953727	+	Silent	SNP	C	C	T	rs143503196		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:186953727C>T	ENST00000296280.6	-	11	2157	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.T531T	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	626	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACATGTTCTCCGTGACGCTGT	0.547000													29	96					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163495	139163495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:139163495C>T	ENST00000395297.1	-	13	3393	c.3223G>A	c.(3223-3225)Gga>Aga	p.G1075R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1075										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAACAACTCCAAAGGATCCC	0.512000										HNSCC(54;0.14)			16	54					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090459	238090459	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:238090459G>A	ENST00000450451.1	+	0	1965					NR_027247.2																						AGGCCTGCCCGAACCCCAAGG	0.577000													29	27					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634218	70634218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:70634218C>T	ENST00000381269.2	-	2	1675	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	SLC8A3_ENST00000357887.3_Missense_Mutation_p.E308K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E308K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E308K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E308K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	308					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCATCCACTTCCTTCCCTTCC	0.493000													29	28					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396734	43396734	+	Silent	SNP	G	G	A	rs147319894		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:43396734G>A	ENST00000426263.3	-	3	436	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SLC2A1_ENST00000372500.3_Silent_p.F86F|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000415851.2_Silent_p.F86F	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	86					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	AGCGGTTAACGAAAAGGCCCA	0.622000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	45					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526678	106526678	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:106526678T>G	ENST00000359195.3	+	10	3281	c.2971T>G	c.(2971-2973)Ttc>Gtc	p.F991V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.F991V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.F991V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	991	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AACCCCTGACTTCCTCTTTGT	0.438000													15	42					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67208889	67208889	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:67208889C>A	ENST00000393893.1	-	6	654	c.551G>T	c.(550-552)tGg>tTg	p.W184L	CORO1B_ENST00000545016.1_3'UTR|CORO1B_ENST00000341356.5_Missense_Mutation_p.W184L|CORO1B_ENST00000453768.2_Missense_Mutation_p.W184L	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	184					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATTGTGGTTCCAGCTGACATT	0.602000													83	112					6.65942e-36	6.82029e-36	1	1	0
MYL6	4637	broad.mit.edu	37	12	56552403	56552403	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:56552403G>C	ENST00000536128.1	+	1	258	c.218G>C	c.(217-219)gGg>gCg	p.G73A	MYL6_ENST00000549566.1_Missense_Mutation_p.G73A|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000547408.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000348108.4_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGAGTTTGTGGGGCTGGGATA	0.567000													137	40					0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48542572	48542572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:48542572C>T	ENST00000293255.2	-	4	371	c.241G>A	c.(241-243)Ggt>Agt	p.G81S		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	81	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		ACACGGCCACCCACTGAGGAA	0.537000													57	80					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191334	149191334	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:149191334G>A	ENST00000461958.2	-	2	481	c.285C>T	c.(283-285)atC>atT	p.I95I	ZNF746_ENST00000340622.3_Silent_p.I95I|ZNF746_ENST00000458143.2_Silent_p.I95I			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	95					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCAGCCGCAGGATCCAGAAGT	0.677000													64	187					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776765	164776765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:164776765G>A	ENST00000264382.3	-	12	1446	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	462	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAATAATTGGTGTACTTCCA	0.368000										HNSCC(35;0.089)			12	16					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42037793	42037793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:42037793C>T	ENST00000220809.4	-	11	1445	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Missense_Mutation_p.E308K|PLAT_ENST00000429710.2_Missense_Mutation_p.E271K|PLAT_ENST00000352041.3_Missense_Mutation_p.E351K|PLAT_ENST00000429089.2_Missense_Mutation_p.E397K|PLAT_ENST00000519510.1_Missense_Mutation_p.E334K	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	397	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCATCGAATTCCTTATGGACA	0.498000													88	250					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53684914	53684914	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:53684914A>G	ENST00000288139.3	+	4	710	c.592A>G	c.(592-594)Aat>Gat	p.N198D	CACNA1D_ENST00000350061.5_Missense_Mutation_p.N198D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.N198D	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	198					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAATGGATGGAATTTACTGGA	0.378000													43	70					0	0	1	0	0
SLC25A34	284723	broad.mit.edu	37	1	16063163	16063163	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:16063163C>T	ENST00000294454.5	+	1	264	c.183C>T	c.(181-183)gcC>gcT	p.A61A	RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	61					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTGGCCCGAGCAGACG	0.657000													18	13					0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42991193	42991193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:42991193G>A	ENST00000378661.2	-	1	208	c.127C>T	c.(127-129)Cat>Tat	p.H43Y		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	43					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CTCAGGTTATGAAGTTCCATG	0.572000													58	76					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52538277	52538277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52538277G>A	ENST00000594154.1	-	5	867	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	ZNF432_ENST00000221315.5_Nonsense_Mutation_p.Q219*			O94892	ZN432_HUMAN	zinc finger protein 432	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCAGTGAGCTGAGACTTCTTG	0.398000													61	83					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527375	16527375	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:16527375G>A	ENST00000311331.7	-	6	916	c.825C>T	c.(823-825)ccC>ccT	p.P275P		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TACATTTGTAGGGTTTTTCCT	0.343000													23	67					0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26383786	26383786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:26383786C>T	ENST00000374272.3	-	7	1025	c.887G>A	c.(886-888)gGg>gAg	p.G296E		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	296	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGTCTTCCCCAGCTGGCA	0.537000													25	82					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86564656	86564656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:86564656C>T	ENST00000274376.6	+	1	952	c.388C>T	c.(388-390)Cca>Tca	p.P130S		NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	130					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GACTCTCGGGCCAGGCGGCGG	0.647000													40	72					0	0	1	0	0
CCNB2	9133	broad.mit.edu	37	15	59406711	59406711	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:59406711C>T	ENST00000288207.2	+	4	527	c.336C>T	c.(334-336)gcC>gcT	p.A112A	CCNB2_ENST00000559622.1_Silent_p.A31A	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	112					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TTTCTGATGCCTTGCTCTGCA	0.473000													37	62					0	0	1	0	0
TRDV1	28518	broad.mit.edu	37	14	22564757	22564757	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:22564757C>T	ENST00000390452.2	+	0	226																											TTTCCTTATTCGCCAGGGTTC	0.423000													46	30					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219747107	219747107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:219747107G>A	ENST00000258411.3	+	2	971	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	113					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGAGACTCGCAACAAGATC	0.577000													40	192					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89416215	89416215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:89416215C>T	ENST00000439576.2	+	16	7666	c.7292C>T	c.(7291-7293)cCc>cTc	p.P2431L	ACAN_ENST00000559004.1_Missense_Mutation_p.P2393L|ACAN_ENST00000352105.7_Missense_Mutation_p.P2393L|ACAN_ENST00000561243.1_Missense_Mutation_p.P2431L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2431					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AATGATGTTCCCTGCAATTAC	0.557000													27	39					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128690271	128690271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:128690271C>T	ENST00000265068.5	-	8	1194	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	KIAA1257_ENST00000511438.1_Missense_Mutation_p.G343R|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G231R	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	343										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GAATCTTTCCCTTTAACTGTG	0.483000													8	4					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47274573	47274573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:47274573C>T	ENST00000337137.4	+	5	828	c.662C>T	c.(661-663)tCc>tTc	p.S221F	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.S143F|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.S174F|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.S162F|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.S174F	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	221						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTGAGCTGGTCCGGAATCCCT	0.507000													66	41					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784789	68784789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:68784789G>A	ENST00000508048.1	-	8	886	c.851C>T	c.(850-852)tCg>tTg	p.S284L	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.S285L|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.S288L|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	288	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.S288L(2)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TATGTCATCCGAAAAGGTGAC	0.443000													35	111					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447209	43447209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:43447209C>T	ENST00000395891.1	+	8	1285	c.680C>T	c.(679-681)cCt>cTt	p.P227L	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.P227L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	227	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AACCCAGACCCTTATCTGAAG	0.438000													19	15					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	189038424	189038424	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:189038424T>C	ENST00000345063.3	+	6	810	c.643T>C	c.(643-645)Ttc>Ctc	p.F215L	TPRG1_ENST00000433971.1_Missense_Mutation_p.F215L	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	215										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GTTGTCTGGGTTCATGTCTAA	0.408000													3	22					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33800122	33800122	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:33800122C>T	ENST00000261326.5	+	9	1923	c.1902C>T	c.(1900-1902)ctC>ctT	p.L634L		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	634					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AACCCCGGCTCTGCCTGATCC	0.532000													17	69					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447418	12447418	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:12447418G>A	ENST00000397026.2	+	7	974	c.591G>A	c.(589-591)gaG>gaA	p.E197E	PPARG_ENST00000539812.1_Silent_p.E189E|PPARG_ENST00000309576.6_Silent_p.E191E|PPARG_ENST00000397010.2_Silent_p.E191E|PPARG_ENST00000397012.2_Silent_p.E191E|PPARG_ENST00000397015.2_Silent_p.E191E|PPARG_ENST00000397000.1_Silent_p.E191E|PPARG_ENST00000287820.6_Silent_p.E219E			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	219					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCGAGAAGGAGAAGCTGTTGG	0.498000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						50	78					0	0	1	0	0
CHMP4A	29082	broad.mit.edu	37	14	24682669	24682669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24682669C>A	ENST00000347519.6	-	1	406	c.106G>T	c.(106-108)Gga>Tga	p.G36*	AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_5'UTR|TM9SF1_ENST00000556387.1_5'UTR	NM_014169.3	NP_054888.2			charged multivesicular body protein 4A											NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		CTCCCGCCTCCGCCCCTCAGC	0.687000													3	85					1	1	1	1	0
ANO9	338440	broad.mit.edu	37	11	420826	420826	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:420826A>T	ENST00000332826.6	-	18	1609	c.1525T>A	c.(1525-1527)Tcc>Acc	p.S509T		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	509						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCGGACTCGGAGGCCCGCAGA	0.711000													12	21					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34129111	34129111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:34129111C>T	ENST00000389232.4	+	88	11643	c.11573C>T	c.(11572-11574)tCc>tTc	p.S3858F	RYR3_ENST00000415757.3_Missense_Mutation_p.S3853F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3858					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCTAGGATTCCAGTCAGATC	0.507000													10	27					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156476796	156476796	+	Silent	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:156476796T>A	ENST00000353442.4	-	17	1685	c.1449A>T	c.(1447-1449)gtA>gtT	p.V483V	LMBR1_ENST00000359422.4_Silent_p.V277V|LMBR1_ENST00000540390.1_Silent_p.V408V|LMBR1_ENST00000354505.4_Silent_p.V524V	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	483						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GATGCCCATTTACAGAAGGCT	0.433000													128	81					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86537023	86537023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:86537023G>A	ENST00000450689.2	-	18	2706	c.2521C>T	c.(2521-2523)Cct>Tct	p.P841S	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P601S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P674S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.P770S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	841						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GATTTAGTAGGATTACACCTC	0.363000													22	53					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211302499	211302499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:211302499G>A	ENST00000443314.1	-	6	1130	c.788C>T	c.(787-789)cCa>cTa	p.P263L	AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.P263L|LANCL1_ENST00000431941.2_Missense_Mutation_p.P263L|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.P263L|LANCL1_ENST00000450366.2_Missense_Mutation_p.P263L			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	263						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		ACCTATACATGGAGGGTAATT	0.488000													56	70					0	0	1	0	0
RABL5	64792	broad.mit.edu	37	7	100958495	100958495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100958495C>T	ENST00000517481.1	-	6	617	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	RABL5_ENST00000437644.2_Missense_Mutation_p.E130K|RABL5_ENST00000315322.4_Missense_Mutation_p.E160K|RABL5_ENST00000498704.2_Missense_Mutation_p.E83K|RABL5_ENST00000495166.1_5'UTR			Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5	160							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					TTTATGAATTCCATCCGGATC	0.448000											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	65					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377055	18377055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:18377055G>A	ENST00000392413.3	-	3	1510	c.1295C>T	c.(1294-1296)tCc>tTc	p.S432F	KIAA1683_ENST00000600328.2_Missense_Mutation_p.S432F|KIAA1683_ENST00000600359.2_Missense_Mutation_p.S386F	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	432						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGCCAGAAGGGAAACCTGAGG	0.612000													50	90					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851992	160851992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:160851992C>T	ENST00000326245.3	-	4	275	c.160G>A	c.(160-162)Ggc>Agc	p.G54S		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	54	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAATACAGGCCATCTGTAGAG	0.562000													47	61					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56462805	56462805	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:56462805C>T	ENST00000370754.5	-	47	11835		c.e47-1		DST_ENST00000244364.6_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000361203.3_Splice_Site|DST_ENST00000370788.2_Splice_Site			Q03001	DYST_HUMAN	dystonin						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTGCTACCTGGGAAGGGA	0.403000													14	10					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394591	233394591	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:233394591C>T	ENST00000258229.8	-	5	1251	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	339						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGCAGGTCCCCCTGGCAGG	0.567000													51	79					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183498584	183498584	+	Silent	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:183498584T>C	ENST00000367537.3	+	9	1041	c.846T>C	c.(844-846)ttT>ttC	p.F282F	SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Silent_p.F253F|SMG7_ENST00000508461.1_Silent_p.F211F|SMG7_ENST00000347615.2_Silent_p.F253F|SMG7_ENST00000507469.1_Silent_p.F253F|SMG7_ENST00000456731.2_Silent_p.F211F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	253				R -> E (in Ref. 1; BAC53621).	mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCAAGGCCTTTATTAAATTCC	0.388000													47	19					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47274574	47274574	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:47274574C>T	ENST00000337137.4	+	5	829	c.663C>T	c.(661-663)tcC>tcT	p.S221S	TBC1D22A_ENST00000355704.3_Silent_p.S143S|TBC1D22A_ENST00000406733.1_Silent_p.S174S|TBC1D22A_ENST00000407381.3_Silent_p.S162S|TBC1D22A_ENST00000380995.1_Silent_p.S174S	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	221						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGAGCTGGTCCGGAATCCCTA	0.512000													65	42					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87162404	87162404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:87162404G>A	ENST00000285393.3	+	6	845	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	235					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ATTGAGCAAAGAAGACCGAGA	0.448000													20	56					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551095	248551095	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248551095C>T	ENST00000355728.2	+	1	186	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			TGTACTTCCTCCTCAGCCACC	0.488000													16	36					0	0	1	0	0
SLC25A34	284723	broad.mit.edu	37	1	16063164	16063164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:16063164C>T	ENST00000294454.5	+	1	265	c.184C>T	c.(184-186)Cga>Tga	p.R62*	RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	62					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGTGGCCCGAGCAGACGG	0.662000													19	13					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14561673	14561673	+	RNA	SNP	C	C	T	rs111407877		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:14561673C>T	ENST00000273083.3	-	0	1039							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GATCTCCAGCCGCACCTTCTC	0.617000													21	14					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051328	38051328	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:38051328G>A	ENST00000261439.4	+	11	2074	c.1719G>A	c.(1717-1719)tcG>tcA	p.S573S	TBC1D1_ENST00000508802.1_Silent_p.S573S	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	573						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCAGTGACTCGGAGAGTCATC	0.592000													87	75					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	335560	335560	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:335560C>T	ENST00000343164.4	-	9	1108	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	SLC6A13_ENST00000445055.2_Silent_p.E260E	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	352					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACTCACCTGACTCGGCCACCT	0.587000													21	128					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49052332	49052332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49052332G>T	ENST00000395474.3	+	6	3347	c.3067G>T	c.(3067-3069)Gag>Tag	p.E1023*	WDR6_ENST00000415265.2_Nonsense_Mutation_p.E441*|WDR6_ENST00000448293.1_Nonsense_Mutation_p.E942*	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	993					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCCCACCCGTGAGGGCCACCA	0.597000													130	155					3.00498e-84	3.1112e-84	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196461411	196461411	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:196461411G>A	ENST00000367433.5	-	2	257	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KCNT2_ENST00000294725.8_Silent_p.F52F|KCNT2_ENST00000367431.4_Silent_p.F52F|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	52						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGTTTTTTATGAAAAATAATT	0.264000													7	4					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846798	123846798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:123846798C>T	ENST00000369005.1	+	4	5123	c.4783C>T	c.(4783-4785)Cct>Tct	p.P1595S	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.P1595S|TACC2_ENST00000515273.1_Missense_Mutation_p.P1595S|TACC2_ENST00000453444.2_Missense_Mutation_p.P1595S|TACC2_ENST00000515603.1_Missense_Mutation_p.P1595S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1595						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGACAGAATTCCTTCTGGAAA	0.582000													39	27					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970388	123970388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:123970388G>A	ENST00000369005.1	+	9	6788	c.6448G>A	c.(6448-6450)Gtg>Atg	p.V2150M	TACC2_ENST00000368999.1_Missense_Mutation_p.V228M|TACC2_ENST00000369004.3_Missense_Mutation_p.V228M|TACC2_ENST00000358010.1_Missense_Mutation_p.V296M|TACC2_ENST00000513429.1_Missense_Mutation_p.V296M|TACC2_ENST00000334433.3_Missense_Mutation_p.V2150M|TACC2_ENST00000515273.1_Missense_Mutation_p.V2154M|TACC2_ENST00000260733.3_Missense_Mutation_p.V228M|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.V2154M|TACC2_ENST00000515603.1_Missense_Mutation_p.V2105M|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000360561.3_Missense_Mutation_p.V228M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2150						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACCCCCCCAGTGAAGGAGAC	0.517000													82	99					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221496	55221496	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:55221496C>T	ENST00000413439.1	+	0	1276																											GCCGGCAGCCCCAGGCTGGGC	0.617000													35	44					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209116179	209116179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:209116179G>A	ENST00000415913.1	-	3	478	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	IDH1_ENST00000345146.2_Missense_Mutation_p.P33S|IDH1_ENST00000446179.1_Missense_Mutation_p.P33S			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	33					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.P33S(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TCCACGTAGGGAAAAATGAGT	0.423000			Mis		gliobastoma								28	59					0	0	1	0	0
DENND6A	201627	broad.mit.edu	37	3	57614557	57614557	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:57614557A>C	ENST00000311128.5	-	19	1746	c.1676T>G	c.(1675-1677)tTg>tGg	p.L559W	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		TTTCAGCTTCAAGACAAGGTC	0.358000													10	171					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74411278	74411278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:74411278G>A	ENST00000286544.3	-	3	1072	c.874C>T	c.(874-876)Ctc>Ttc	p.L292F	FAM161B_ENST00000534936.1_Missense_Mutation_p.L229F	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCTTGGTAGAGGGGCAGGTAG	0.617000													33	91					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543655	23543655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:23543655G>A	ENST00000300619.7	-	4	2331	c.2126C>T	c.(2125-2127)gCt>gTt	p.A709V	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A677V	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	709						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTCTCCAGCATGTATTAT	0.323000													52	61					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34181823	34181823	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:34181823C>T	ENST00000435224.2	-	12	2899	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	ABTB2_ENST00000298992.2_Silent_p.E639E	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	639							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCTTCCGGATCTCTGGGATGC	0.642000													42	63					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86509800	86509800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:86509800G>A	ENST00000450689.2	-	22	3262	c.3077C>T	c.(3076-3078)tCc>tTc	p.S1026F	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S786F|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S859F|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S955F	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1026						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATATTTGGGGATCTTGAGGT	0.348000													10	29					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28893659	28893659	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:28893659G>A	ENST00000282397.4	-	24	3438	c.3187C>T	c.(3187-3189)Ctg>Ttg	p.L1063L	FLT1_ENST00000543394.1_Silent_p.L86L|FLT1_ENST00000540678.1_Silent_p.L281L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1063	Protein kinase.				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)	ATCCATTTCAGAGGAAGTCGA	0.493000													20	26					0	0	1	0	0
BPGM	669	broad.mit.edu	37	7	134363695	134363695	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:134363695C>A	ENST00000393132.2	+	4	1181	c.692C>A	c.(691-693)cCt>cAt	p.P231H	BPGM_ENST00000418040.1_Missense_Mutation_p.P231H|BPGM_ENST00000344924.3_Missense_Mutation_p.P231H	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	231					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						GCTGTTGGGCCTCATCAGTTC	0.428000													39	96					3.54909e-21	3.61643e-21	1	1	0
KIAA1683	80726	broad.mit.edu	37	19	18377054	18377054	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:18377054G>A	ENST00000392413.3	-	3	1511	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	KIAA1683_ENST00000600328.2_Silent_p.S432S|KIAA1683_ENST00000600359.2_Silent_p.S386S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	432						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAGCCAGAAGGGAAACCTGAG	0.612000													48	90					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150929	51150929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:51150929C>T	ENST00000342995.2	+	1	1163	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CAGCAAAGATCAGCCCTTCTC	0.622000													47	5					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12317381	12317381	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:12317381G>A	ENST00000261349.4	-	9	1954	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	LRP6_ENST00000543091.1_Silent_p.T626T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	626	EGF-like 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGACAATGCAGGTCTTCATGT	0.468000													68	78					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139313701	139313701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:139313701G>A	ENST00000406875.3	-	5	1526	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	HIPK2_ENST00000342645.6_Nonsense_Mutation_p.Q478*|HIPK2_ENST00000428878.2_Nonsense_Mutation_p.Q478*	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	478	Interaction with DAXX.|Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AAGCTTACCTGGGCCATATCA	0.413000													10	4					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	66999061	66999061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:66999061C>T	ENST00000529006.2	+	12	1555	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S370F	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGGTTGGAGTCTGGGAATGGG	0.478000													11	18					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37076662	37076662	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:37076662G>A	ENST00000263918.4	-	18	2288	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	STRN_ENST00000379213.2_Silent_p.F711F	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	760					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGGATGGGTGGAAAGCTACAT	0.398000													41	56					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498745	142498745	+	RNA	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142498745C>A	ENST00000466254.1	+	0	21																											AAACGTGTTCCCACCCGAGGT	0.562000													6	89					8.24728e-16	8.37201e-16	1	1	0
FBLN5	10516	broad.mit.edu	37	14	92413555	92413555	+	Splice_Site	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:92413555A>T	ENST00000267620.10	-	1	187		c.e1+1		FBLN5_ENST00000342058.4_Splice_Site			Q9UBX5	FBLN5_HUMAN	fibulin 5						cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CCGAGAACCCACCTTTTTATT	0.587000													29	5					0	0	1	0	0
CYB5R2	51700	broad.mit.edu	37	11	7688983	7688983	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:7688983C>T	ENST00000533558.1	-	7	1090	c.534G>A	c.(532-534)agG>agA	p.R178R	CYB5R2_ENST00000299497.9_Silent_p.R178R|CYB5R2_ENST00000299498.6_Silent_p.R178R|CYB5R2_ENST00000524790.1_Silent_p.R178R|CYB5R2_ENST00000528585.1_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	178					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGGACATCCTGGTCCTGT	0.537000													165	210					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746235	140746235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140746235C>T	ENST00000518069.1	+	1	2338	c.2338C>T	c.(2338-2340)Ctt>Ttt	p.L780F	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACACGCTCCTTAGTGAAGA	0.517000													189	35					0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52231614	52231614	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:52231614A>G	ENST00000371710.3	+	12	1135	c.953A>G	c.(952-954)gAa>gGa	p.E318G	OSBPL9_ENST00000462759.1_Missense_Mutation_p.E122G|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E305G|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E287G|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E190G|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E300G|OSBPL9_ENST00000486942.1_Missense_Mutation_p.E122G|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E219G|OSBPL9_ENST00000531828.1_Missense_Mutation_p.E135G|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E283G|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E310G|OSBPL9_ENST00000435686.2_Missense_Mutation_p.E135G	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	300					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GATGCTGATGAATTCCATCAA	0.378000													23	71					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108455394	108455394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:108455394G>A	ENST00000408999.3	+	4	456	c.379G>A	c.(379-381)Gga>Aga	p.G127R	RGPD4_ENST00000354986.4_Missense_Mutation_p.G127R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	127					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACTTTTCCCAGGAAGTCCTGC	0.318000													105	126					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754809	140754809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140754809C>T	ENST00000517434.1	+	1	1159	c.1159C>T	c.(1159-1161)Ccg>Tcg	p.P387S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.P387A(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCCATCCCGAGAAGTCT	0.443000													69	8					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36625328	36625328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:36625328C>T	ENST00000373448.2	-	7	3059	c.2821G>A	c.(2821-2823)Ggt>Agt	p.G941S	TTI1_ENST00000449821.1_Missense_Mutation_p.G941S|TTI1_ENST00000373447.3_Missense_Mutation_p.G941S	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	941							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGAAAGTCACCACACTTGCTT	0.537000													74	126					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45279034	45279034	+	Missense_Mutation	SNP	C	C	T	rs115427466	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:45279034C>T	ENST00000313237.5	-	13	1678	c.1528G>A	c.(1528-1530)Ggg>Agg	p.G510R	PHF21B_ENST00000396103.3_Missense_Mutation_p.G468R|PHF21B_ENST00000404079.2_Missense_Mutation_p.G456R|PHF21B_ENST00000403565.1_Missense_Mutation_p.G306R	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	510							zinc ion binding	p.G510W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GTCCAGGGCCCGGCCAGCAGT	0.667000													104	205					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27549689	27549689	+	Silent	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:27549689G>T	ENST00000359541.2	-	19	3018	c.2589C>A	c.(2587-2589)atC>atA	p.I863I	GTF3C2_ENST00000264720.3_Silent_p.I863I			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	863						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACAAAATGGATTCGAACCA	0.547000													67	80					4.05715e-38	4.16045e-38	1	1	0
NLRP9	338321	broad.mit.edu	37	19	56243965	56243965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:56243965G>A	ENST00000332836.2	-	2	1259	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	411	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCCCCATGGGAAAATACAAA	0.498000													62	106					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29543648	29543648	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:29543648G>A	ENST00000389048.3	-	7	2421	c.1515C>T	c.(1513-1515)acC>acT	p.T505T	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	505	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATCCTTTAGGGTCCTGACCT	0.547000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				136	158					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74319582	74319582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:74319582G>A	ENST00000395792.2	+	13	1853	c.1753G>A	c.(1753-1755)Ggc>Agc	p.G585S	AFP_ENST00000226359.2_Missense_Mutation_p.G585S|AFP_ENST00000506820.1_3'UTR	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	585	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGCTGCCAAGGCCAGGAACA	0.418000									Alpha-Fetoprotein, Hereditary Persistence of				19	45					0	0	1	0	0
TBCB	1155	broad.mit.edu	37	19	36616592	36616592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:36616592G>A	ENST00000221855.3	+	6	1218	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.E164K	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	215	CAP-Gly.				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACGCTACTTCGAATGCCAGGC	0.572000													336	425					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411785	43411785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43411785C>T	ENST00000187910.2	-	4	993	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.E310K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TCCCGTATTTCACATTGATAG	0.507000													107	125					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811682	140811682	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140811682C>T	ENST00000252085.3	+	1	1498	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCGGTCTTCCCTCAGGCCT	0.592000													62	7					0	0	1	0	0
RBKS	64080	broad.mit.edu	37	2	28113153	28113153	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:28113153C>T	ENST00000302188.3	-	1	812	c.60G>A	c.(58-60)gtG>gtA	p.V20V	RBKS_ENST00000444339.2_Silent_p.V20V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	20					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCCACCACTACCACCG	0.667000													54	69					0	0	1	0	0
CYS1	192668	broad.mit.edu	37	2	10198994	10198994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:10198994C>T	ENST00000381813.4	-	3	650	c.463G>A	c.(463-465)Gag>Aag	p.E155K	CYS1_ENST00000477304.1_5'UTR	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN	cystin 1	155						cilium axoneme				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		CGGCAGTACTCCCGCTCGATG	0.677000													14	16					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11400710	11400710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:11400710G>A	ENST00000227756.4	-	4	1108	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		ACCCTGGAGCGGATGAGGCCT	0.587000													23	36					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26877926	26877926	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:26877926C>T	ENST00000374168.2	+	5	500	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	RPS6KA1_ENST00000374162.2_Silent_p.L24L|RPS6KA1_ENST00000374166.4_Silent_p.L116L|RPS6KA1_ENST00000531382.1_Silent_p.L125L|RPS6KA1_ENST00000530003.1_Silent_p.L100L|RPS6KA1_ENST00000526792.1_Silent_p.L24L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	116	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GAGAGACATCCTGGCTGATGT	0.567000													35	129					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79941490	79941490	+	Silent	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:79941490T>C	ENST00000306729.7	+	3	316	c.219T>C	c.(217-219)aaT>aaC	p.N73N	ASPSCR1_ENST00000581647.1_Silent_p.N73N|ASPSCR1_ENST00000306739.4_Silent_p.N73N|ASPSCR1_ENST00000580534.1_5'UTR	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	73							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCCCAACAATGCCAAGCTGG	0.612000			T	TFE3	alveolar soft part sarcoma								13	62					0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48309810	48309810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:48309810C>T	ENST00000354698.3	+	4	701	c.629C>T	c.(628-630)cCa>cTa	p.P210L	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	210					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGAAACCCCAGGGTTTGGA	0.483000													15	88					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35631958	35631958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:35631958G>A	ENST00000287272.2	+	15	2433	c.2413G>A	c.(2413-2415)Gac>Aac	p.D805N	UNC5D_ENST00000404895.2_Missense_Mutation_p.D874N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D450N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D879N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D869N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D807N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	874					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAAAGGCAAGGACTGGCAGAT	0.468000													25	23					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455278	84455278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:84455278C>T	ENST00000377084.2	-	1	1250	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	122						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTCTGCTTTCGAAAAGACTT	0.468000													69	76					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659101	196659101	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:196659101C>T	ENST00000312428.6	-	57	10777	c.10677G>A	c.(10675-10677)ccG>ccA	p.P3559P	DNAH7_ENST00000409063.1_Silent_p.P42P	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3559	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATCAGAGATCGGGTCCATGA	0.463000													72	90					0	0	1	0	0
CHP1	11261	broad.mit.edu	37	15	41555046	41555046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:41555046C>T	ENST00000334660.5	+	4	554	c.314C>T	c.(313-315)cCc>cTc	p.P105L	CHP1_ENST00000560397.1_Missense_Mutation_p.P105L|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	105					potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										GTGAATGGACCCGAACCACTC	0.418000													59	100					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022272	75022272	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:75022272G>C	ENST00000261978.4	-	4	1341	c.955C>G	c.(955-957)Cca>Gca	p.P319A	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.P319A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	319			P -> Q (in dbSNP:rs2304707).		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCAAGGCCTGGTCCCGGGGGC	0.642000													14	206					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043513	30043513	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30043513G>A	ENST00000244360.6	-	1	151	c.54C>T	c.(52-54)atC>atT	p.I18I	RNF39_ENST00000376751.3_Silent_p.I18I	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	18						cytoplasm	zinc ion binding										CCTCTCCTGGGATTGCCTCTC	0.587000													36	99					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889911	51889911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:51889911G>A	ENST00000371117.3	-	32	4972	c.4697C>T	c.(4696-4698)tCc>tTc	p.S1566F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1566F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1566	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGTGTCTGGAAACATTACC	0.458000													41	46					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44336148	44336148	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:44336148A>G	ENST00000288390.2	+	5	954	c.607A>G	c.(607-609)Act>Gct	p.T203A	SPATS1_ENST00000323108.8_Missense_Mutation_p.T203A			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	203										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCAAAGTTAACTCCAGGCGA	0.403000													55	83					0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1360579	1360579	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:1360579A>G	ENST00000311401.5	+	5	841	c.455A>G	c.(454-456)aAc>aGc	p.N152S	MUM1_ENST00000344663.3_Missense_Mutation_p.N221S|MUM1_ENST00000415183.3_Missense_Mutation_p.N221S|MUM1_ENST00000591806.1_Missense_Mutation_p.N221S			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	220					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGAGGAAACTCAGCGCAG	0.572000													22	105					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412543	154412543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:154412543G>A	ENST00000414028.2	+	3	1150	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000330432.7_Missense_Mutation_p.R367Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	367					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R367L(2)|p.R460L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AACTCCACTCGAATTCGTCAG	0.443000													34	29					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122422657	122422657	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:122422657C>T	ENST00000474629.2	+	7	3416	c.3150C>T	c.(3148-3150)ctC>ctT	p.L1050L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1050	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTAAGTCCCTCTTGGAAAAAG	0.478000													19	27					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997029	62997029	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62997029G>A	ENST00000306494.6	-	1	95	c.96C>T	c.(94-96)taC>taT	p.Y32Y	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	32					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GAGTTTGATGGTATACTATGA	0.463000													55	75					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379139	25379139	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:25379139C>T	ENST00000315368.3	+	2	232	c.90C>T	c.(88-90)ccC>ccT	p.P30P	ANAPC4_ENST00000510092.1_Silent_p.P30P	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	30					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TCTGGTCGCCCAAGCGGGATC	0.637000													17	37					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70222683	70222683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:70222683G>A	ENST00000253925.7	+	25	3576	c.3361G>A	c.(3361-3363)Ggg>Agg	p.G1121R	PPFIA1_ENST00000389547.3_Missense_Mutation_p.G1121R|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1121				GTD -> PEF (in Ref. 4; BAA08353).	cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTTGGTCATGGGGACTGATAG	0.328000													65	119					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066219	23066219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:23066219G>A	ENST00000246006.4	-	1	758	c.611C>T	c.(610-612)cCc>cTc	p.P204L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	204					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTCTGGAAGGGGGTGGTGTA	0.592000													56	74					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640165	156640165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156640165G>A	ENST00000368223.3	-	4	3947	c.3815C>T	c.(3814-3816)cCc>cTc	p.P1272L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1272	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCCCTCGGGGATCTCCCC	0.647000													39	86					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47284690	47284690	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:47284690C>T	ENST00000335044.2	-	16	1917	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	KIF9_ENST00000452770.2_Silent_p.K520K|KIF9_ENST00000444589.2_Intron|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.K520K	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	520					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AATCCAAGTCCTTCCCATTCA	0.542000													32	37					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73765672	73765672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:73765672C>A	ENST00000373115.4	+	2	509	c.72C>A	c.(70-72)taC>taA	p.Y24*		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	24					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GAAGCAAATACGCCCTTTTCT	0.488000													38	85					4.64027e-19	4.71936e-19	1	1	0
ANK3	288	broad.mit.edu	37	10	61932690	61932690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:61932690G>A	ENST00000280772.1	-	20	2541	c.2350C>T	c.(2350-2352)Cag>Tag	p.Q784*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q778*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q767*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	784					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCGTTGTTCTGAAGTAAGACA	0.478000													31	25					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61748751	61748751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:61748751C>T	ENST00000423902.2	+	16	4377	c.3898C>T	c.(3898-3900)Cca>Tca	p.P1300S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1300	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAGCTGCTGCCAAAACTGAA	0.502000													14	24					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54804141	54804141	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:54804141G>A	ENST00000391745.1	-	5	400	c.85_splice	c.e5+1	p.L28_splice	LILRA3_ENST00000251390.3_Splice_Site_p.L11_splice|LILRA3_ENST00000391744.3_Splice_Site_p.L11_splice					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAATCTCACCGAGACAGATCA	0.587000													101	89					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													3	30					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272830	28272830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:28272830G>A	ENST00000305242.5	-	6	853	c.761C>T	c.(760-762)cCt>cTt	p.P254L	ARMC4_ENST00000239715.3_Missense_Mutation_p.P111L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	254							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCATCGTGAGGTTTCACCAG	0.393000													23	22					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476829	57476829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:57476829C>A	ENST00000371236.2	-	13	1824	c.1561G>T	c.(1561-1563)Gag>Tag	p.E521*	DAB1_ENST00000420954.2_Nonsense_Mutation_p.E519*|DAB1_ENST00000439789.2_Nonsense_Mutation_p.E435*|DAB1_ENST00000371234.4_Nonsense_Mutation_p.E521*|DAB1_ENST00000371231.1_Nonsense_Mutation_p.E554*|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Nonsense_Mutation_p.E503*			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	554					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTCTTGCTCTTCGCTTTTG	0.413000													66	49					1.37693e-34	1.4093e-34	1	1	0
LNX1	84708	broad.mit.edu	37	4	54439943	54439943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:54439943G>A	ENST00000263925.7	-	2	541	c.227C>T	c.(226-228)cCc>cTc	p.P76L	FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	76						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCGGTCCATGGGACAGAAGTC	0.572000													13	22					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755466	38755466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38755466G>A	ENST00000449082.2	-	21	3786	c.3787C>T	c.(3787-3789)Cga>Tga	p.R1263*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1263					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCTTCAAATCGAGAAAGAGCC	0.532000													59	71					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919548	70919548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:70919548G>A	ENST00000264436.3	-	7	1136	c.692C>T	c.(691-693)cCg>cTg	p.P231L	ADD2_ENST00000407644.2_Missense_Mutation_p.P231L|ADD2_ENST00000413157.2_Missense_Mutation_p.P231L|ADD2_ENST00000355733.3_Missense_Mutation_p.P231L|ADD2_ENST00000430656.1_Missense_Mutation_p.P247L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	231					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCTGTGGCCGGTGTGTGCAG	0.587000													8	56					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520260	84520260	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:84520260C>T	ENST00000360700.4	+	6	1801	c.916_splice	c.e6+1	p.I305_splice	ZNF711_ENST00000373165.3_Splice_Site_p.I305_splice|ZNF711_ENST00000542798.1_Splice_Site_p.I101_splice|ZNF711_ENST00000395402.1_Splice_Site_p.I283_splice|ZNF711_ENST00000276123.3_Splice_Site_p.I305_splice			Q9Y462	ZN711_HUMAN	zinc finger protein 711	305					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAGATGATATCAGTAAGAAAA	0.393000													26	3					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431437	110431437	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:110431437C>T	ENST00000378402.5	+	22	2576	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	824					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACAGTCCTTCTATGTGGATG	0.358000										HNSCC(38;0.096)			4	17					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78180377	78180377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:78180377G>A	ENST00000370793.1	-	20	2576	c.2230C>T	c.(2230-2232)Cga>Tga	p.R744*	USP33_ENST00000370794.3_Nonsense_Mutation_p.R713*|USP33_ENST00000370792.3_Nonsense_Mutation_p.R736*|USP33_ENST00000357428.1_Nonsense_Mutation_p.R744*	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	744	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGCCACTGTCGAGAAATATAA	0.373000													49	27					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	436266	436266	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:436266T>C	ENST00000280886.6	-	12	1519	c.1432A>G	c.(1432-1434)Aaa>Gaa	p.K478E	DIP2C_ENST00000381496.3_Missense_Mutation_p.K371E	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	478						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGGGCGGTTTGGAGAGATGT	0.473000													59	35					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023594	76023594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:76023594C>T	ENST00000393004.2	-	5	2175	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	FILIP1_ENST00000237172.7_Missense_Mutation_p.D652N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.D553N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	652										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCATCAAATCCCCTTCGACC	0.418000													72	190					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	734758	734758	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:734758G>A	ENST00000293883.4	-	9	3108	c.2349C>T	c.(2347-2349)tgC>tgT	p.C783C	WDR24_ENST00000248142.6_Silent_p.C913C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	913										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				AGAGGTGGCCGCAGCCTGCGG	0.692000													3	19					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42852511	42852511	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:42852511T>C	ENST00000398585.3	-	6	635	c.575A>G	c.(574-576)aAc>aGc	p.N192S	TMPRSS2_ENST00000332149.5_Missense_Mutation_p.N155S|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.N155S	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	155	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AAGGATGAAGTTTGGTCCGTA	0.517000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								24	42					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21550456	21550456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:21550456C>T	ENST00000298694.4	+	15	3432	c.3305C>T	c.(3304-3306)gCc>gTc	p.A1102V	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A1102V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1102	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GATTACGTGGCCACCTTGAGT	0.637000													29	34					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73151384	73151384	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:73151384G>A	ENST00000222800.3	-	5	759	c.690C>T	c.(688-690)ttC>ttT	p.F230F	ABHD11_ENST00000437775.2_Silent_p.F223F|ABHD11_ENST00000395147.4_Silent_p.F173F|ABHD11_ENST00000458339.1_Intron	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	230							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCTCCACACGAAGCGCCCGT	0.607000													52	138					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120602263	120602263	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:120602263G>A	ENST00000300648.6	-	18	1737	c.1725C>T	c.(1723-1725)agC>agT	p.S575S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	575					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCAGGTGCGGCTCAGGAGCA	0.642000													93	57					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73541499	73541499	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:73541499A>T	ENST00000339362.5	+	11	2152	c.1705A>T	c.(1705-1707)Att>Ttt	p.I569F	NEO1_ENST00000261908.6_Missense_Mutation_p.I569F|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.I569F|NEO1_ENST00000560262.1_Missense_Mutation_p.I569F			Q92859	NEO1_HUMAN	neogenin 1	569	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CAATGGGGAAATTCAGAATTA	0.438000													42	62					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551905	100551905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100551905G>A	ENST00000319509.7	+	1	656	c.656G>A	c.(655-657)gGa>gAa	p.G219E						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTCACTAGGGGAAGTACGTCT	0.428000													74	555					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111896274	111896274	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:111896274G>A	ENST00000280346.6	+	1	737	c.78G>A	c.(76-78)caG>caA	p.Q26Q	DLAT_ENST00000393051.1_Silent_p.Q26Q	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	26					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CGGCCTTGCAGGAGGTACCCG	0.682000													65	73					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4794871	4794871	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4794871C>A	ENST00000355280.6	+	16	2057	c.1861C>A	c.(1861-1863)Cct>Act	p.P621T	MINK1_ENST00000347992.7_Missense_Mutation_p.P621T|MINK1_ENST00000453408.3_Missense_Mutation_p.P601T	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	621					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGACCCCGACCCTGCCATCCC	0.662000													9	26					2.17888e-05	2.19249e-05	1	1	0
MALT1	10892	broad.mit.edu	37	18	56390306	56390306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:56390306G>A	ENST00000348428.3	+	10	1303	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G338R	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	349	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCTTTTGATAGGAAATATGAA	0.388000			T	BIRC3	MALT								12	22					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51250729	51250729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:51250729C>T	ENST00000261842.5	+	14	1695	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L	AP4E1_ENST00000560508.1_Missense_Mutation_p.P455L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	530					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AAGGAAACGCCAGAGGAAGTT	0.343000													11	11					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754297	49754297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:49754297C>T	ENST00000304801.3	-	1	756	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	202					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACTGGGTTTTCCAAGGCTTTA	0.448000													27	88					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28919905	28919905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:28919905G>A	ENST00000257192.4	+	11	1816	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	535					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCCGGAAACGGAGCCAAAGAT	0.413000													58	51					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882618	78882618	+	Silent	SNP	C	C	T	rs141986748		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:78882618C>T	ENST00000299565.5	+	5	1085	c.885C>T	c.(883-885)ttC>ttT	p.F295F	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	295					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TGACTGTCTTCCTTCTGGTTA	0.358000													42	48					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142240017	142240017	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142240017G>A	ENST00000390363.2	-	0	41																											CCCATGGCAGGATCTCCTAGC	0.517000													48	36					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3445875	3445875	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:3445875G>A	ENST00000382774.3	+	5	700	c.585G>A	c.(583-585)aaG>aaA	p.K195K	HGFAC_ENST00000511533.1_Silent_p.K195K	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	195	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCACCGGCAAGGACTGCGGCA	0.687000													13	7					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51274960	51274960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:51274960C>T	ENST00000266037.9	+	21	2064	c.2041C>T	c.(2041-2043)Cac>Tac	p.H681Y		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	681						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAGTATTTTCACTTTCGACC	0.468000													21	24					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541105	55541105	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55541105C>T	ENST00000361760.1	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64_L65>LI(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGTGCTTTTTCCTTAGTCACT	0.398000													37	51					0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117892165	117892165	+	Silent	SNP	A	A	G	rs142695639		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:117892165A>G	ENST00000371666.3	+	5	703	c.636A>G	c.(634-636)aaA>aaG	p.K212K	IL13RA1_ENST00000371642.1_Silent_p.K212K|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	212						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ATGCAGGAAAAATTAAACCAT	0.358000													15	78					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25471999	25471999	+	Silent	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:25471999G>C	ENST00000278886.6	-	11	1546	c.1473C>G	c.(1471-1473)acC>acG	p.T491T	NINL_ENST00000422516.1_Silent_p.T491T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	491					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCAGGGCCAGGGTCAGCTTCT	0.677000													48	67					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362936	175362936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:175362936C>T	ENST00000367674.1	-	6	2044	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	TNR_ENST00000263525.2_Missense_Mutation_p.E446K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	446	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGCTGATTTCCCACCCATCG	0.473000													89	208					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152826342	152826342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:152826342G>A	ENST00000367255.5	-	9	1373	c.772C>T	c.(772-774)Cct>Tct	p.P258S	SYNE1_ENST00000367248.3_Missense_Mutation_p.P265S|SYNE1_ENST00000265368.4_Missense_Mutation_p.P258S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P265S|SYNE1_ENST00000367253.4_Missense_Mutation_p.P258S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P258S|SYNE1_ENST00000413186.2_Missense_Mutation_p.P258S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P265S|SYNE1_ENST00000466159.2_Missense_Mutation_p.P258S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	258	Actin-binding.|CH 2.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACCTTCAGGATCTAGCAGT	0.428000										HNSCC(10;0.0054)			22	38					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900343	123900343	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:123900343G>C	ENST00000431524.1	+	1	47	c.14G>C	c.(13-15)aGc>aCc	p.S5T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		TCCAACGCCAGCCTACTGACA	0.527000													5	208					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58018666	58018666	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:58018666G>C	ENST00000379218.2	+	11	1663	c.1352G>C	c.(1351-1353)gGc>gCc	p.G451A	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000320442.4_Silent_p.G415G			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	0	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGGTCCCGGGGCTCTGCATCC	0.582000													96	18					0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72083724	72083724	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:72083724G>C	ENST00000355790.4	-	4	772	c.295C>G	c.(295-297)Ctc>Gtc	p.L99V	LRRC20_ENST00000373224.1_Missense_Mutation_p.L99V|LRRC20_ENST00000358141.2_Missense_Mutation_p.L49V|LRRC20_ENST00000395011.1_Missense_Mutation_p.L49V|LRRC20_ENST00000395010.1_Intron	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	99										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						ATGGCCTTGAGGTGCTGCAGG	0.617000													35	76					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28543164	28543164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:28543164G>A	ENST00000401766.2	-	6	1420	c.908C>T	c.(907-909)cCt>cTt	p.P303L	SLC6A4_ENST00000261707.3_Missense_Mutation_p.P303L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	303					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCAGGCTCCAGGGAGGGTGGC	0.522000													38	78					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925335	27925335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:27925335C>T	ENST00000244623.1	+	1	317	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATTTCTGGCCTTGGGGGCT	0.443000													24	41					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14824048	14824048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:14824048G>A	ENST00000380881.4	-	13	2962	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V	FREM1_ENST00000422223.2_Missense_Mutation_p.A715V|FREM1_ENST00000380880.3_Missense_Mutation_p.A715V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	715					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGCTCCAGGGCCGTAGGATT	0.428000													11	1					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166012313	166012313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:166012313G>A	ENST00000360093.3	-	10	1623	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R378*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R378*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	378						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R378*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTCATGAGTCGAAATAGAGAC	0.413000													35	47					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38524763	38524763	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38524763C>T	ENST00000352511.3	+	11	1951	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	493					activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CGGACTGTCTCGTTTCCCTGG	0.587000													77	81					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96506961	96506961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:96506961G>A	ENST00000283109.3	-	6	796	c.728C>T	c.(727-729)aCc>aTc	p.T243I	RIOK2_ENST00000508447.1_Missense_Mutation_p.T243I|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	243							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATCAATCATGGTGATATGGTC	0.318000													26	46					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806954	33806954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:33806954C>T	ENST00000260908.7	-	2	392	c.275G>A	c.(274-276)gGa>gAa	p.G92E	SLFN12L_ENST00000361112.4_Missense_Mutation_p.G121E|SLFN12L_ENST00000449046.1_Missense_Mutation_p.G123E	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	124						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TAGCCCTATTCCATCTTTTTT	0.383000													22	23					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137622308	137622308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:137622308C>T	ENST00000371817.3	+	7	1565	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	384	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCGACACCTCCAACTCCTCC	0.607000													60	13					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83636188	83636188	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:83636188A>C	ENST00000566620.1	+	8	1380	c.1090A>C	c.(1090-1092)Acc>Ccc	p.T364P	CDH13_ENST00000268613.10_Missense_Mutation_p.T411P|CDH13_ENST00000428848.3_Missense_Mutation_p.T325P	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	364	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACCAAAATTCACCAAGAAAGA	0.473000													83	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579780	179579780	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179579780C>T	ENST00000589042.1	-	90	26357	c.26133G>A	c.(26131-26133)ggG>ggA	p.G8711G	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.G7467G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.G8394G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8394	Ig-like 70.						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)			ACTGATATTCCCCAATGTCTG	0.453000													127	183					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98606063	98606063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:98606063C>T	ENST00000359863.4	+	69	10984	c.10775C>T	c.(10774-10776)tCc>tTc	p.S3592F	TRRAP_ENST00000355540.3_Missense_Mutation_p.S3563F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S3581F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3592	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTCACTTTCCCTTGTGGAG	0.617000													87	247					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418502	55418502	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55418502C>T	ENST00000312422.2	+	1	123	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGGAAATCTCCTCATCATGC	0.393000													51	66					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644818	207644818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:207644818G>A	ENST00000367057.3	+	9	1733	c.1544G>A	c.(1543-1545)tGg>tAg	p.W515*	CR2_ENST00000458541.2_Intron|CR2_ENST00000367059.3_Nonsense_Mutation_p.W515*|CR2_ENST00000367058.3_Nonsense_Mutation_p.W515*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	515	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ACAATTCCTTGGTTTATGGAG	0.388000													103	70					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725413	26725413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:26725413C>T	ENST00000396005.3	-	5	916	c.607G>A	c.(607-609)Gga>Aga	p.G203R	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G203R	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	203					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.G203R(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGAGTTGATCCTTGAATGAGA	0.393000													93	107					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238303650	238303650	+	Missense_Mutation	SNP	G	G	A	rs144651558		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:238303650G>A	ENST00000295550.4	-	3	741	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.R97C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R97C|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	97	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTTTAGTACGATACGTATTT	0.388000													55	67					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42915883	42915883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:42915883C>T	ENST00000316161.4	-	1	1750	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	476					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CGCTGCGGGTCAACATGGGGT	0.562000													35	46					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855666	2855666	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:2855666G>A	ENST00000602557.1	-	55	8802	c.8247C>T	c.(8245-8247)ttC>ttT	p.F2749F	CSMD1_ENST00000537824.1_Silent_p.F2748F|CSMD1_ENST00000542608.1_Silent_p.F2690F|CSMD1_ENST00000400186.3_Silent_p.F2691F|CSMD1_ENST00000520002.1_Silent_p.F2749F|CSMD1_ENST00000602723.1_Silent_p.F2691F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2749	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCATTAGTGAATCCGTGGG	0.507000													59	111					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058260	56058260	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:56058260G>A	ENST00000313022.2	-	1	306	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGCAGCCCATGAAGGAAATAT	0.403000													170	180					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123910972	123910972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:123910972C>T	ENST00000373855.1	+	24	3742	c.3482C>T	c.(3481-3483)gCc>gTc	p.A1161V	CNTRL_ENST00000373847.1_Missense_Mutation_p.A609V|CNTRL_ENST00000238341.5_Missense_Mutation_p.A1161V|CNTRL_ENST00000373850.1_Missense_Mutation_p.A609V			Q7Z7A1	CNTRL_HUMAN	centriolin	1161					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGTTCCCAGGCCACCAAGGAC	0.478000													47	6					0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16275677	16275677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16275677C>T	ENST00000269878.4	-	5	443	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CIB3_ENST00000379859.3_Missense_Mutation_p.V83M|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	132	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						AGTTTGGTCACCGTCTGCTCC	0.602000													90	142					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50950946	50950946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:50950946G>A	ENST00000374103.4	-	15	2025	c.1940C>T	c.(1939-1941)gCc>gTc	p.A647V	OGDHL_ENST00000432695.1_Missense_Mutation_p.A438V|OGDHL_ENST00000419399.1_Missense_Mutation_p.A590V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	647					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGAGCCAAAGGCCATGTACTC	0.642000													35	31					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111955450	111955450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:111955450C>T	ENST00000218789.5	+	21	2605	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T644I|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T719I|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T729I|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T644I			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGGATGAGACCAATCTATAA	0.512000													10	13					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145012363	145012363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145012363G>A	ENST00000322810.4	-	3	800	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	PLEC_ENST00000345136.3_Missense_Mutation_p.H74Y|PLEC_ENST00000436759.2_Missense_Mutation_p.H101Y|PLEC_ENST00000356346.3_Missense_Mutation_p.H60Y|PLEC_ENST00000357649.2_Missense_Mutation_p.H78Y|PLEC_ENST00000354589.3_Missense_Mutation_p.H74Y|PLEC_ENST00000398774.2_Missense_Mutation_p.H42Y|PLEC_ENST00000354958.2_Missense_Mutation_p.H52Y|PLEC_ENST00000527096.1_Missense_Mutation_p.H101Y	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	211	Actin-binding.|CH 1.|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						ATGAGGTTGTGGCCATCGCGG	0.682000													9	42					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140409855	140409855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:140409855G>A	ENST00000286349.3	+	4	2097	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	636	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGAGATGGAATTCTATGA	0.418000													28	89					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37032697	37032697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:37032697G>A	ENST00000379242.3	+	14	1581	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	VIT_ENST00000401530.1_Missense_Mutation_p.E391K|VIT_ENST00000497382.1_Missense_Mutation_p.E81K|VIT_ENST00000379241.3_Missense_Mutation_p.E390K|VIT_ENST00000404084.1_Missense_Mutation_p.E364K|VIT_ENST00000389975.3_Missense_Mutation_p.E412K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	412	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAAGTGGAGGAGGCTTCAAG	0.498000													53	129					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978181	247978181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247978181G>A	ENST00000357627.1	-	1	850	c.851C>T	c.(850-852)cCc>cTc	p.P284L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GTATATAATGGGATTAAAGGT	0.403000													20	24					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40873681	40873681	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40873681C>T	ENST00000409587.1	+	6	721	c.324C>T	c.(322-324)gcC>gcT	p.A108A	PLD3_ENST00000356508.5_Silent_p.A108A|PLD3_ENST00000409281.1_Silent_p.A108A|PLD3_ENST00000409735.4_Silent_p.A108A|PLD3_ENST00000409419.1_Silent_p.A108A			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	108					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CCAGCCAGGCCTGGCTGGGCC	0.652000													26	41					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539964	133539964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:133539964C>T	ENST00000409261.1	-	14	4793	c.4420G>A	c.(4420-4422)Gaa>Aaa	p.E1474K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1474K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1474							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGACCTTTTCTTCGATTGTG	0.507000													35	31					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96101487	96101487	+	Silent	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:96101487T>A	ENST00000371361.3	-	14	1687	c.1587A>T	c.(1585-1587)atA>atT	p.I529I	NOC3L_ENST00000543788.1_Silent_p.I267I|NOC3L_ENST00000371350.1_Silent_p.I529I	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	529						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATTCCACATTTATAAGGTGAG	0.274000													16	38					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138423	126138423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:126138423G>A	ENST00000299308.3	+	9	2412	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCAGCAATGATATTGAGGG	0.473000													40	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439960	179439960	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179439960C>T	ENST00000589042.1	-	326	71123	c.70899G>A	c.(70897-70899)ctG>ctA	p.L23633L	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.L14760L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.L14693L|TTN_ENST00000342992.6_Silent_p.L21065L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.L14568L|TTN_ENST00000591111.1_Silent_p.L21992L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21992	Fibronectin type-III 71.						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)			CACGGAGATCCAGCTCTGGAA	0.507000													8	20					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351701	156351701	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156351701G>A	ENST00000400992.2	+	6	1217	c.849G>A	c.(847-849)ggG>ggA	p.G283G	RHBG_ENST00000537040.1_Silent_p.G153G|RHBG_ENST00000368249.1_Silent_p.G315G|RHBG_ENST00000255013.3_Silent_p.G246G|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000368246.2_Silent_p.G315G			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	315					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTTGGCTGGGACTGTCTCCA	0.562000													71	59					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141772	8141772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:8141772C>T	ENST00000315684.8	-	3	380	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	125					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CACTCTTGTTCCAAGTCTGCC	0.542000													114	84					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23405551	23405551	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:23405551C>G	ENST00000400181.4	+	17	2040	c.1936C>G	c.(1936-1938)Ctc>Gtc	p.L646V	KDM1A_ENST00000542151.1_Missense_Mutation_p.L646V|KDM1A_ENST00000356634.3_Missense_Mutation_p.L622V|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	622	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CGACGCAGTTCTCTGTACCCT	0.517000													42	139					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329301	56329301	+	Silent	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:56329301A>G	ENST00000443188.1	-	4	950	c.240T>C	c.(238-240)gaT>gaC	p.D80D	NLRP11_ENST00000589824.2_Silent_p.D80D|NLRP11_ENST00000360133.3_Silent_p.D80D|NLRP11_ENST00000589093.1_Silent_p.D80D|NLRP11_ENST00000592953.1_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	80	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCCTACAAAGATCTTCCTTAC	0.458000													60	80					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124567266	124567266	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:124567266C>T	ENST00000296181.4	-	4	797	c.501G>A	c.(499-501)gaG>gaA	p.E167E	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	167	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GCTTCCTCATCTCCTCCGCGA	0.527000													44	142					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779300	31779300	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31779300G>A	ENST00000375654.4	-	2	639	c.450C>T	c.(448-450)gcC>gcT	p.A150A	HSPA1L_ENST00000417199.3_Silent_p.A150A	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	150					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CATTGAAATAGGCTGGCACGG	0.488000													28	51					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27209606	27209606	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:27209606G>A	ENST00000394906.2	-	7	692	c.615C>T	c.(613-615)ctC>ctT	p.L205L	FLOT2_ENST00000585169.1_Silent_p.L150L|FLOT2_ENST00000394908.4_Silent_p.L150L|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	150					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTGAAGCTGAGGATCTCAA	0.577000													109	98					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59308076	59308076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:59308076G>A	ENST00000320743.3	-	2	564	c.278C>T	c.(277-279)tCc>tTc	p.S93F	LRIG3_ENST00000379141.4_Missense_Mutation_p.S33F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	93						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTGGCTCATGGAACTTGCCTT	0.323000			T	ROS1	NSCLC								76	21					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43343978	43343978	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:43343978G>A	ENST00000344686.2	-	0	2609				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCGAGCCTCGGCCTGGCTGCT	0.607000													79	110					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24896233	24896233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:24896233C>T	ENST00000326010.5	+	2	607	c.263C>T	c.(262-264)cCt>cTt	p.P88L	UPB1_ENST00000382760.2_Missense_Mutation_p.P88L|UPB1_ENST00000413389.2_Intron	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	88	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCAAATGCCCCTGTGGCAGAA	0.577000													30	60					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579076	82579076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:82579076C>T	ENST00000423517.2	-	6	11165	c.10828G>A	c.(10828-10830)Gta>Ata	p.V3610I	PCLO_ENST00000333891.8_Missense_Mutation_p.V3610I|PCLO_ENST00000437081.1_Missense_Mutation_p.V330I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3541					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCAGCTGTACTGTGGAATCT	0.488000													23	56					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167254736	167254736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:167254736C>T	ENST00000308378.3	-	7	1125	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	WDR49_ENST00000453925.2_Missense_Mutation_p.E338K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.E99K	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	274										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTCCATTCTTCAGGCTGGATG	0.388000													23	19					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44384217	44384217	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:44384217C>T	ENST00000587539.1	-	2	80	c.81G>A	c.(79-81)caG>caA	p.Q27Q	ZNF404_ENST00000324394.6_Silent_p.Q25Q	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ACAAATCCCTCTGATCCGAGT	0.383000													27	142					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395279	94395279	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:94395279C>T	ENST00000267594.5	+	3	1141	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FAM181A_ENST00000556222.1_Silent_p.F216F|FAM181A_ENST00000557719.1_Silent_p.F216F|FAM181A_ENST00000557000.2_Silent_p.F216F	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	278										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTGCCCCTTCCAGTACCATG	0.642000													30	4					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13613109	13613109	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:13613109G>A	ENST00000404922.3	+	2	1373	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	FBLN2_ENST00000535798.1_Silent_p.E444E|FBLN2_ENST00000295760.7_Silent_p.E418E|FBLN2_ENST00000492059.1_Silent_p.E418E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	418	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCCACGTGGAGGAGGACACAG	0.582000													24	52					0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12534911	12534911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:12534911G>A	ENST00000538608.1	+	9	779	c.643G>A	c.(643-645)Gga>Aga	p.G215R	PARVA_ENST00000334956.8_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000539723.1_Intron			Q9NVD7	PARVA_HUMAN	parvin, alpha	171					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GAAAAAGGTGGGAAAGGGGTG	0.522000													25	153					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105815148	105815148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:105815148C>T	ENST00000353479.5	-	19	1989	c.1699G>A	c.(1699-1701)Gga>Aga	p.G567R	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.G567R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	567	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCAGGGCTTCCTCGGAGATTT	0.458000													36	75					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583692	145583692	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145583692C>T	ENST00000532887.1	+	3	1123	c.540C>T	c.(538-540)acC>acT	p.T180T	SLC52A2_ENST00000402965.1_Silent_p.T180T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000329994.2_Silent_p.T180T|SLC52A2_ENST00000530047.1_Silent_p.T180T|SLC52A2_ENST00000527078.1_Silent_p.T180T|SLC52A2_ENST00000540505.1_Silent_p.T92T			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	180						integral to plasma membrane	receptor activity|riboflavin transporter activity										TCAACGGCACCCCTGGCCCCC	0.672000													92	50					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881634	26881634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:26881634C>T	ENST00000231021.4	-	12	2153	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D661Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCGCCTTCATCGTTGTAGGTC	0.438000													51	66					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38947606	38947606	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:38947606C>T	ENST00000487273.2	+	19	2187	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	703					activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TGGTCTTCTTCTTCCTAATTG	0.378000													46	112					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725339	66725339	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:66725339G>T	ENST00000247815.4	+	12	3135	c.3076G>T	c.(3076-3078)Gat>Tat	p.D1026Y		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1026					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGATGGAGTAGATACAGATGA	0.438000													68	64					1.15062e-32	1.17692e-32	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36896953	36896953	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:36896953C>T	ENST00000301807.6	-	12	4375	c.2478G>A	c.(2476-2478)agG>agA	p.R826R	TRANK1_ENST00000428977.2_Silent_p.R826R|TRANK1_ENST00000429976.2_Silent_p.R1376R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1376					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTTCGACAGCCTCCGGGATA	0.502000													79	122					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71952944	71952944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:71952944G>A	ENST00000355327.3	+	8	1362	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	THSD4_ENST00000261862.6_Missense_Mutation_p.G410S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.G50S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	410						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGACAACACGGGCTGTCAGGT	0.532000													136	146					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93773739	93773739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:93773739C>T	ENST00000265990.6	+	32	4845	c.4537C>T	c.(4537-4539)Cca>Tca	p.P1513S	BTAF1_ENST00000544642.1_Missense_Mutation_p.P341S	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1513					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCAGGATCTTCCACCTAAAAT	0.368000													30	106					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52539755	52539755	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:52539755G>A	ENST00000321725.6	+	15	1729	c.1653G>A	c.(1651-1653)gtG>gtA	p.V551V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	551	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGAGGCTGTGGACAGCTTGC	0.647000													69	106					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9000146	9000146	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9000146C>T	ENST00000397910.4	-	55	40814		c.e55+1		MUC16_ENST00000380951.5_Splice_Site	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGTTCTCACCTGAGCAAGG	0.577000													67	76					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30516734	30516734	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:30516734G>T	ENST00000356798.6	+	20	2497	c.2317G>T	c.(2317-2319)Gag>Tag	p.E773*	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.E689*	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	773					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAACTGTGGGGAGGACAAGAA	0.527000													151	34					2.283e-98	2.36522e-98	1	1	0
OSGIN1	29948	broad.mit.edu	37	16	83991322	83991322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:83991322C>T	ENST00000343939.2	+	3	678	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	OSGIN1_ENST00000565123.1_Missense_Mutation_p.P16S|OSGIN1_ENST00000361711.3_Missense_Mutation_p.P16S|OSGIN1_ENST00000393306.1_Missense_Mutation_p.P16S			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	99					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CAGCTCAGAGCCCCTCCCGGT	0.697000													18	2					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9974647	9974647	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:9974647G>A	ENST00000295981.3	+	19	1964	c.1746G>A	c.(1744-1746)agG>agA	p.R582R	IL17RC_ENST00000455057.1_Silent_p.R479R|IL17RC_ENST00000383812.4_Silent_p.R496R|IL17RC_ENST00000416074.2_Silent_p.R337R|IL17RC_ENST00000403601.3_Silent_p.R511R|IL17RC_ENST00000413608.1_Silent_p.R498R|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	582						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGGCCGCCAGGGGCCGCGCGG	0.736000											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706317	96706317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:96706317G>A	ENST00000389672.5	+	3	632	c.594G>A	c.(592-594)atG>atA	p.M198I	EPHA6_ENST00000470610.2_Missense_Mutation_p.M198I|EPHA6_ENST00000542517.1_Missense_Mutation_p.M104I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	103	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGTGGAAATGAAATTCACAC	0.403000													19	45					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230807279	230807279	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:230807279T>A	ENST00000534989.1	+	8	950	c.615T>A	c.(613-615)ttT>ttA	p.F205L	COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Missense_Mutation_p.F148L|COG2_ENST00000366668.3_Missense_Mutation_p.F264L|COG2_ENST00000366669.4_Missense_Mutation_p.F264L			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	264					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TAGAGCAGTTTGTTGAATCTC	0.358000													21	36					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141535834	141535834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:141535834G>A	ENST00000264952.2	+	4	1741	c.1604G>A	c.(1603-1605)aGa>aAa	p.R535K		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	535					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GACCCCAACAGACCTACGGGT	0.463000													72	194					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129526	3129526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:3129526G>A	ENST00000380266.3	-	2	512	c.191C>T	c.(190-192)tCt>tTt	p.S64F	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	64					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TCTCCGAGAAGAGAAGGTGCT	0.512000													51	40					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733041	152733041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:152733041G>A	ENST00000368773.1	+	2	1035	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	KPRP_ENST00000606109.1_Missense_Mutation_p.R326Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	326	Pro-rich.					cytoplasm		p.R326Q(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAAGTGCCGAATCGAGATT	0.617000													26	64					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59485716	59485716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:59485716C>T	ENST00000240328.3	+	7	2269	c.1988C>T	c.(1987-1989)gCt>gTt	p.A663V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	663					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CCCGAGCTGGCTCTCCGCAAA	0.677000													7	10					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738697	8738697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:8738697G>A	ENST00000311434.9	-	8	777	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	180					platelet activation	cytosol											TGCTGCGCCTGGGCCGCCTCG	0.647000													18	28					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18702887	18702887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:18702887C>T	ENST00000251296.1	+	7	1482	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	367	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCATGGGTTTCAGGTCAGCCT	0.577000													72	190					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424116	125424116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:125424116G>A	ENST00000373686.1	+	1	272	c.272G>A	c.(271-273)gGa>gAa	p.G91E				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ACAGTGATAGGAAACCTGCTT	0.493000													41	3					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30632944	30632944	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30632944G>A	ENST00000376442.3	-	6	1224	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	343					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CAGCATCTCGGGCCCCAAACT	0.627000													18	28					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4024062	4024062	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:4024062G>A	ENST00000262971.2	+	3	598	c.483G>A	c.(481-483)gaG>gaA	p.E161E	PIAS4_ENST00000596144.1_3'UTR	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	161	PINIT.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTCAGGAGAGCCCGTGCA	0.637000													37	150					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	597479	597479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:597479C>T	ENST00000219611.2	+	4	1004	c.641C>T	c.(640-642)cCa>cTa	p.P214L	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GCCAACCCCCCAGCCACCAGC	0.746000													23	5					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133627324	133627324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:133627324C>T	ENST00000519595.1	-	8	1032	c.934G>A	c.(934-936)Gat>Aat	p.D312N	LRRC6_ENST00000518642.1_Missense_Mutation_p.D312N|LRRC6_ENST00000250173.1_Missense_Mutation_p.D312N			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	312	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTTCGTTATCTTTCAAAGAG	0.333000													19	51					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83839611	83839611	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:83839611T>C	ENST00000302236.5	+	5	2297	c.2246T>C	c.(2245-2247)aTt>aCt	p.I749T	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	749							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCCTCTAAAATTGGGTCACTA	0.378000													32	39					0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23899059	23899059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:23899059C>T	ENST00000379226.4	-	2	251	c.20G>A	c.(19-21)aGg>aAg	p.R7K	APOO_ENST00000379220.3_Missense_Mutation_p.R7K	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	7					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						CCCCACGGACCTCTGAATTAC	0.478000													36	6					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104160129	104160129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:104160129G>A	ENST00000369966.3	+	16	1929	c.1679G>A	c.(1678-1680)gGa>gAa	p.G560E	NFKB2_ENST00000189444.6_Missense_Mutation_p.G560E|NFKB2_ENST00000428099.1_Missense_Mutation_p.G560E	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	560					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GATCGGCATGGAGACTCAGCC	0.657000			T	IGH@	B-NHL								36	78					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47064588	47064588	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:47064588C>T	ENST00000406902.1	+	12	1146	c.933C>T	c.(931-933)aaC>aaT	p.N311N	GRAMD4_ENST00000361034.3_Silent_p.N311N			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	311					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TCACACAGAACCTTTTCGGGA	0.652000													56	192					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053792	97053792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:97053792G>A	ENST00000326771.2	+	5	729	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	FHL5_ENST00000541107.1_Missense_Mutation_p.E117K	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	117	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCGCAAAATGGAATTTAAGGG	0.363000													34	17					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864607	22864607	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:22864607C>T	ENST00000251822.6	+	5	1386	c.849C>T	c.(847-849)atC>atT	p.I283I	RHOBTB2_ENST00000522948.1_Silent_p.I290I|RHOBTB2_ENST00000519685.1_Silent_p.I305I|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	283	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCCACAAGATCTACCTCTCCA	0.662000													147	133					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752382	36752382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:36752382C>T	ENST00000354618.5	+	4	775	c.551C>T	c.(550-552)tCt>tTt	p.S184F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S184F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	184	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGTCCTCTTCTAAGGATAGC	0.527000			T	USP6	aneurysmal bone cysts								65	199					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	56032809	56032809	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:56032809G>A	ENST00000389286.4	-	2	215	c.168C>T	c.(166-168)gtC>gtT	p.V56V	PRTG_ENST00000561292.1_Silent_p.V56V	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	56	Ig-like 1.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCTAAAACGACTGGGTCCT	0.408000													80	102					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401192	89401192	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:89401192C>T	ENST00000439576.2	+	12	5750	c.5376C>T	c.(5374-5376)gtC>gtT	p.V1792V	ACAN_ENST00000559004.1_Silent_p.V1792V|ACAN_ENST00000352105.7_Silent_p.V1792V|ACAN_ENST00000561243.1_Silent_p.V1792V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1792					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CATCTGGGGTCCCTGATCTCA	0.527000													23	30					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71334792	71334792	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:71334792G>A	ENST00000392650.3	-	45	6453	c.6453C>T	c.(6451-6453)taC>taT	p.Y2151Y	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.Y2132Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2151					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGGGGGACGGTAGAGGGTGC	0.602000													20	20					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108475997	108475997	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:108475997G>A	ENST00000295755.6	-	1	234	c.36C>T	c.(34-36)atC>atT	p.I12I		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	12					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGAGAAGGGGGATTAGGATGA	0.507000													15	47					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696447	7696447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:7696447C>T	ENST00000572933.1	+	48	8953	c.7493C>T	c.(7492-7494)cCc>cTc	p.P2498L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P2498L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2498	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCAGCCACCCCTGGAGCTG	0.517000													72	63					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986293	53986293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:53986293C>T	ENST00000514921.1	+	2	225	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.P38S|MLIP_ENST00000358276.5_Missense_Mutation_p.P32S|MLIP_ENST00000502396.1_Missense_Mutation_p.P49S|MLIP_ENST00000511744.1_3'UTR			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	38	Interaction with LMNA.					nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CACATTTGTCCCCACTGTCAG	0.413000													47	120					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156352044	156352044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156352044C>T	ENST00000537040.1	+	4	700	c.662C>T	c.(661-663)tCt>tTt	p.S221F	RHBG_ENST00000400992.2_Intron|RHBG_ENST00000368249.1_Intron|RHBG_ENST00000255013.3_Intron|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000494874.1_Intron			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	0					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGAATGACCTCTGTCATTCTC	0.463000													68	36					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64972383	64972383	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:64972383G>A	ENST00000326648.3	+	6	3897		c.e6-1			NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609							nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTTCCACAGGTTCCTACCT	0.517000													86	77					0	0	1	0	0
SMR3B	10879	broad.mit.edu	37	4	71255502	71255502	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:71255502C>T	ENST00000304915.3	+	3	326	c.177C>T	c.(175-177)atC>atT	p.I59I	SMR3B_ENST00000504825.1_Silent_p.I59I	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B											large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CAGGGAGAATCCCACCTCCTC	0.597000													56	111					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176008476	176008476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:176008476G>A	ENST00000510636.1	+	17	2225	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	CDHR2_ENST00000261944.5_Missense_Mutation_p.E651K|CDHR2_ENST00000506348.1_Missense_Mutation_p.E651K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	651	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTGGACAGAGAGGCCATCGA	0.622000													43	36					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													5	296					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314082	48314082	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:48314082A>G	ENST00000435803.1	+	17	4843	c.4819A>G	c.(4819-4821)Agc>Ggc	p.S1607G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1607					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCTTGCCTTCAGCTTATCTCA	0.348000													26	123					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038981	31038981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:31038981C>T	ENST00000355537.3	+	4	2602	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCCAAATCAAGACCACAA	0.567000													69	108					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015685	41015685	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:41015685G>A	ENST00000295974.8	-	6	1379	c.750C>T	c.(748-750)atC>atT	p.I250I	APBB2_ENST00000513140.1_Silent_p.I250I|APBB2_ENST00000506352.1_Silent_p.I250I|APBB2_ENST00000508593.1_Silent_p.I250I	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	250					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.I250I(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCAGGTTCTGGATCCGGTGCA	0.587000													328	266					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100192755	100192755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100192755C>T	ENST00000241071.6	+	7	1305	c.983C>T	c.(982-984)aCc>aTc	p.T328I	FBXO24_ENST00000465843.1_Intron|FBXO24_ENST00000427939.2_Missense_Mutation_p.T366I|FBXO24_ENST00000360609.2_Intron|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.T316I|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	328						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAGGTGCATACCCCAGGGGTG	0.607000													43	107					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242373707	242373707	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:242373707C>T	ENST00000264042.3	+	10	1172	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	FARP2_ENST00000545004.1_Silent_p.F334F|FARP2_ENST00000373287.4_Silent_p.F334F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	334					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)		AAGCCGTCTTCTTCAGCCGGG	0.468000													49	44					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72186208	72186208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:72186208C>T	ENST00000324262.4	+	11	1551	c.1235C>T	c.(1234-1236)aCc>aTc	p.T412I	CNDP2_ENST00000579847.1_Missense_Mutation_p.T412I|CNDP2_ENST00000324301.8_Missense_Mutation_p.T328I	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	412						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCAGACTTGACCAGGGAAGGC	0.557000													49	148					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202484	39202484	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:39202484G>A	ENST00000351578.6	-	2	769	c.579C>T	c.(577-579)ttC>ttT	p.F193F	FYB_ENST00000505428.1_Silent_p.F193F|FYB_ENST00000515010.1_Silent_p.F193F|FYB_ENST00000540520.1_Silent_p.F203F|FYB_ENST00000512982.1_Silent_p.F193F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	193					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CGGGTTTGGGGAAGAGGGGCT	0.493000													33	42					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61096997	61096997	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:61096997C>T	ENST00000301764.7	-	4	784	c.387G>A	c.(385-387)cgG>cgA	p.R129R	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	129	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCCAATCATCCGGCACTCAG	0.512000								Nucleotide excision repair (NER)					22	30					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104461797	104461797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:104461797G>T	ENST00000229330.4	+	3	489	c.385G>T	c.(385-387)Gga>Tga	p.G129*		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	129					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTCGGCTTGGACATAGCTT	0.423000													39	125					7.40236e-40	7.60536e-40	1	1	0
CEP152	22995	broad.mit.edu	37	15	49064872	49064872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:49064872C>T	ENST00000380950.2	-	13	1781	c.1594G>A	c.(1594-1596)Gac>Aac	p.D532N	CEP152_ENST00000325747.5_Missense_Mutation_p.D439N|CEP152_ENST00000399334.3_Missense_Mutation_p.D532N|CEP152_ENST00000559398.1_5'UTR	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	532					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCATTTGGGTCTTCTTCTTGT	0.378000													12	61					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	171009587	171009587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:171009587C>T	ENST00000337664.4	-	2	472	c.196G>A	c.(196-198)Gag>Aag	p.E66K	AADAT_ENST00000509167.1_Missense_Mutation_p.E70K|AADAT_ENST00000515480.1_Missense_Mutation_p.E66K|AADAT_ENST00000353187.2_Missense_Mutation_p.E66K	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	66					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTCATCATCTCTTCTCCAAAT	0.373000													56	63					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45518006	45518006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:45518006C>T	ENST00000415258.1	+	9	1046	c.905C>T	c.(904-906)aCc>aTc	p.T302I	LARS2_ENST00000414984.1_Missense_Mutation_p.T259I|LARS2_ENST00000265537.3_Missense_Mutation_p.T302I			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	302					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TATACGGCCACCCCTGAAGCC	0.562000													79	121					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889190	38889190	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38889190G>A	ENST00000450244.1	-	26	4569	c.4371C>T	c.(4369-4371)ttC>ttT	p.F1457F	SCN11A_ENST00000456224.3_Silent_p.F1419F|SCN11A_ENST00000302328.3_Silent_p.F1457F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1457					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCGTCGGAGGGAAAGGAATGT	0.493000													20	26					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495102	96495102	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:96495102G>A	ENST00000285979.6	+	9	1573	c.1374G>A	c.(1372-1374)ctG>ctA	p.L458L	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Silent_p.L399L	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		ACTTTAACCTGAAATCTCAGG	0.468000													63	66					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43420636	43420636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43420636G>A	ENST00000187910.2	-	2	133	c.68C>T	c.(67-69)tCa>tTa	p.S23L	PSG6_ENST00000601833.1_5'UTR|PSG6_ENST00000402603.4_Missense_Mutation_p.S23L|PSG6_ENST00000292125.2_Missense_Mutation_p.S23L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTTAAAAGTGATGCTAGGAG	0.468000													110	135					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806654	6806654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:6806654C>T	ENST00000307401.4	+	1	407	c.386C>T	c.(385-387)cCt>cTt	p.P129L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATTTGTCATCCTCTGACATAC	0.537000													24	59					0	0	1	0	0
PTRH2	51651	broad.mit.edu	37	17	57774865	57774865	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:57774865G>A	ENST00000470557.2	-	1	3921	c.475C>T	c.(475-477)Cta>Tta	p.L159L	PTRH2_ENST00000537860.1_Silent_p.L159L|PTRH2_ENST00000409433.2_Silent_p.L160L|PTRH2_ENST00000393038.2_Silent_p.L159L			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	159					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCAATCCCTAGGACAGTTTGA	0.458000													39	50					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112085529	112085529	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:112085529G>A	ENST00000357685.5	+	10	1512	c.1377G>A	c.(1375-1377)aaG>aaA	p.K459K	BCO2_ENST00000531169.1_Silent_p.K425K|BCO2_ENST00000361053.4_Silent_p.K386K|BCO2_ENST00000526088.1_Silent_p.K425K|BCO2_ENST00000532593.1_Silent_p.K354K|BCO2_ENST00000393032.2_Silent_p.K425K|BCO2_ENST00000438022.1_Silent_p.K425K			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	459					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ACCTAGAAAAGGAAGGAGGCA	0.378000													48	45					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25783883	25783883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:25783883G>A	ENST00000319524.6	+	1	214	c.214G>A	c.(214-216)Gag>Aag	p.E72K	KSR1_ENST00000509603.2_Missense_Mutation_p.E72K			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	70					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACCCAGCAGGAGATACGGAC	0.682000													17	56					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22247572	22247572	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:22247572C>G	ENST00000324559.8	+	6	654	c.337C>G	c.(337-339)Ctt>Gtt	p.L113V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	113						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAAACAGGTCTTGAGTTGGA	0.323000													9	22					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31027130	31027130	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:31027130C>T	ENST00000399914.1	-	5	1301	c.780_splice	c.e5+1	p.L260_splice	GRIK1_ENST00000399913.1_Splice_Site_p.L260_splice|GRIK1_ENST00000389125.3_Splice_Site_p.L260_splice|GRIK1_ENST00000327783.4_Splice_Site_p.L260_splice|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Splice_Site_p.L260_splice|GRIK1_ENST00000399907.1_Splice_Site_p.L260_splice|GRIK1_ENST00000309434.7_Splice_Site_p.L260_splice|GRIK1_ENST00000535441.1_Splice_Site_p.L260_splice|GRIK1_ENST00000399909.1_Splice_Site_p.L260_splice			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	260					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATGCACTTACCAGGGTTGTGA	0.413000													120	105					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3381966	3381966	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:3381966T>G	ENST00000589123.1	+	2	380	c.260T>G	c.(259-261)aTc>aGc	p.I87S	NFIC_ENST00000586919.1_Missense_Mutation_p.I87S|NFIC_ENST00000590282.1_Missense_Mutation_p.I96S|NFIC_ENST00000443272.2_Missense_Mutation_p.I96S|NFIC_ENST00000395111.3_Missense_Mutation_p.I87S|NFIC_ENST00000341919.3_Missense_Mutation_p.I96S|NFIC_ENST00000346156.5_Missense_Mutation_p.I87S	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	96					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GTGCTGAGCATCACCGGCAAG	0.682000													112	150					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21551913	21551913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:21551913C>T	ENST00000415912.2	-	17	1947	c.1822G>A	c.(1822-1824)Ggg>Agg	p.G608R	ECE1_ENST00000436918.2_Missense_Mutation_p.G624R|ECE1_ENST00000374893.6_Missense_Mutation_p.G624R|ECE1_ENST00000357071.4_Missense_Mutation_p.G612R|ECE1_ENST00000264205.6_Missense_Mutation_p.G621R	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	624					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGAGGTTCCCGTCCTTGTCA	0.612000													19	66					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121430231	121430231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:121430231G>A	ENST00000260197.7	+	21	3043	c.2914G>A	c.(2914-2916)Gaa>Aaa	p.E972K		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	972					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTTTAGAATGAAATCTACTG	0.468000													30	30					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954063	21954063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:21954063C>T	ENST00000261200.4	-	38	4564	c.4565G>A	c.(4564-4566)gGa>gAa	p.G1522E		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1522	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G1522E(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAATATTTCCTCGCTTCAT	0.408000													28	44					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389691	48389691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:48389691G>A	ENST00000224600.4	-	1	1300	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	396	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCCAAGAAGGAGTTTCTGT	0.647000													16	51					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489678	65489678	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:65489678C>T	ENST00000261883.4	-	9	3112	c.2946G>A	c.(2944-2946)ggG>ggA	p.G982G		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	982					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATACAGCTTCCCCACTGTCT	0.557000													75	99					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640161	36640161	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:36640161G>A	ENST00000373448.2	-	3	2296	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	TTI1_ENST00000449821.1_Silent_p.S686S|TTI1_ENST00000373447.3_Silent_p.S686S	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	686							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGTGCTGCAGGGAGTCGTAGC	0.488000													38	64					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79945341	79945341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:79945341G>A	ENST00000373275.4	-	33	3949	c.3733C>T	c.(3733-3735)Cag>Tag	p.Q1245*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1245										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTACAGCTCTGATCCCTAAGA	0.284000													11	0					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709278	176709278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:176709278C>T	ENST00000367662.3	+	14	5261	c.4097C>T	c.(4096-4098)tCg>tTg	p.S1366L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1366					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTGGTCTTTCGGCTCCCAGT	0.512000													21	54					0	0	1	0	0
BUD31	8896	broad.mit.edu	37	7	99008806	99008806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:99008806G>A	ENST00000403633.2	+	3	620	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	BUD31_ENST00000222969.5_Missense_Mutation_p.E31K|BUD31_ENST00000456893.1_Missense_Mutation_p.E31K			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	31					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAAGATGAGAGAAGGTGAGTA	0.493000													30	24					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101723	58101723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:58101723C>T	ENST00000597850.1	+	4	759	c.544C>T	c.(544-546)Ctt>Ttt	p.L182F	ZIK1_ENST00000536878.2_Missense_Mutation_p.L169F|ZIK1_ENST00000599456.1_Missense_Mutation_p.L127F|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATGTTGCGGCTTCTGAGGTC	0.493000													49	65					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38102879	38102879	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:38102879A>C	ENST00000592533.1	+	5	1030	c.698A>C	c.(697-699)cAt>cCt	p.H233P	ZNF540_ENST00000589117.1_Missense_Mutation_p.H201P|ZNF540_ENST00000316433.4_Missense_Mutation_p.H233P|ZNF540_ENST00000343599.5_Missense_Mutation_p.H233P	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTACTCTGCATCAGAGATTT	0.363000													17	35					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036443	32036443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:32036443G>A	ENST00000375244.3	-	17	6145	c.5944C>T	c.(5944-5946)Ccc>Tcc	p.P1982S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1982S			P22105	TENX_HUMAN	tenascin XB	2064	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGGCTCGGGGGTTGCGGTG	0.632000													73	113					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94612	94612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:94612C>T	ENST00000332708.5	-	2	141	c.111G>A	c.(109-111)tgG>tgA	p.W37*	TUBB8_ENST00000309812.4_Missense_Mutation_p.D74N|TUBB8_ENST00000447903.2_Missense_Mutation_p.D2N|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	351					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CGCACAGAGTCCATGGTGCCC	0.697000													42	26					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140058344	140058344	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:140058344G>A	ENST00000371561.3	+	18	3674	c.2577G>A	c.(2575-2577)cgG>cgA	p.R859R	GRIN1_ENST00000371550.4_Silent_p.R859R|GRIN1_ENST00000350902.5_Silent_p.R859R|GRIN1_ENST00000371555.4_Silent_p.R880R|GRIN1_ENST00000371560.3_Silent_p.R880R|GRIN1_ENST00000371546.4_Silent_p.R880R|GRIN1_ENST00000371559.4_Silent_p.R859R|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Silent_p.R859R|GRIN1_ENST00000371553.3_Silent_p.R880R	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	859					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACGTGTGGCGGAAGAACCTGC	0.657000													38	7					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71715819	71715819	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:71715819G>C	ENST00000393695.3	-	24	6204	c.5873C>G	c.(5872-5874)aCt>aGt	p.T1958S	NUMA1_ENST00000351960.6_Missense_Mutation_p.T822S|NUMA1_ENST00000358965.6_Missense_Mutation_p.T1944S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1958					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGGTCTCCAGTTTTCATCTC	0.607000			T	RARA	APL								47	58					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52556610	52556610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:52556610G>A	ENST00000321725.6	+	61	6726	c.6650G>A	c.(6649-6651)gGc>gAc	p.G2217D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2217	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCACCAGCGGCCCTTATGGT	0.602000													109	113					0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266165	225266165	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:225266165A>T	ENST00000389874.3	-	1	546	c.321T>A	c.(319-321)tgT>tgA	p.C107*	FAM124B_ENST00000409685.3_Nonsense_Mutation_p.C107*|FAM124B_ENST00000243806.2_Nonsense_Mutation_p.C107*	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	107							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AAAAGTAGGGACACAGCCTTC	0.592000													26	32					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528012	7528012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:7528012C>T	ENST00000313599.3	-	11	2923	c.2866G>A	c.(2866-2868)Gga>Aga	p.G956R	CD163L1_ENST00000416109.2_Missense_Mutation_p.G966R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G956R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	956	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTTCTTTCTCCAATATATTTT	0.498000													30	36					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915871	72915871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:72915871C>T	ENST00000319642.1	-	2	1242	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	354					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGCTGTCATCGTCCAGGCTG	0.677000													90	114					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982294	7982294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:7982294G>A	ENST00000328600.2	-	2	1026	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	289	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGGTGATGAGAAGGGAGCAC	0.542000													85	110					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569061	49569061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49569061C>T	ENST00000545947.1	+	6	1839	c.1117C>T	c.(1117-1119)Cga>Tga	p.R373*	DAG1_ENST00000541308.1_Nonsense_Mutation_p.R373*|DAG1_ENST00000539901.1_Nonsense_Mutation_p.R373*|DAG1_ENST00000515359.2_Nonsense_Mutation_p.R373*|DAG1_ENST00000308775.2_Nonsense_Mutation_p.R373*|DAG1_ENST00000538711.1_Nonsense_Mutation_p.R373*	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	373	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATCCGGACTCGAGGCGCCAT	0.597000													111	136					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622860	20622860	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:20622860G>A	ENST00000525748.1	+	2	462	c.189G>A	c.(187-189)caG>caA	p.Q63Q		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	63					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAACTTTCCAGTCAGCGGACG	0.731000													12	11					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909270	909270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:909270G>A	ENST00000379409.2	+	13	1678	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.V463M|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.V498M			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	550										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACTCCCCTCGGTGCCTGTGTC	0.697000													34	102					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33673082	33673082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:33673082C>T	ENST00000354992.2	-	15	2608	c.2037G>A	c.(2035-2037)tgG>tgA	p.W679*	LARGE_ENST00000397394.2_Nonsense_Mutation_p.W679*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.W627*|LARGE_ENST00000452586.2_Nonsense_Mutation_p.W478*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.W630*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.W627*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	679					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCACTTTGTTCCAGCCAAAGC	0.557000													37	106					0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149760129	149760129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:149760129G>A	ENST00000369168.4	+	4	569	c.515G>A	c.(514-516)gGa>gAa	p.G172E	RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	172	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	p.G172E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGGCATGGGAAAGCATCGC	0.438000													69	128					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54101512	54101512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:54101512C>T	ENST00000404125.1	-	43	5119	c.5064G>A	c.(5062-5064)tgG>tgA	p.W1688*	PSME4_ENST00000476586.1_Intron|PSME4_ENST00000421748.2_Nonsense_Mutation_p.W832*	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1688					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTATAACCAGCCACCTGATAT	0.368000													46	59					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39088946	39088946	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:39088946G>A	ENST00000295373.6	-	5	732	c.606C>T	c.(604-606)gtC>gtT	p.V202V	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	202	UBA.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACATCCTCAGGACCGCTTGAC	0.433000													25	46					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5391461	5391461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:5391461G>A	ENST00000399537.4	-	17	5807	c.5459C>T	c.(5458-5460)tCg>tTg	p.S1820L	TNRC18_ENST00000430969.1_Missense_Mutation_p.S1820L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1820							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TTGGTCAAACGATTCCTCCGA	0.577000													11	24					0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416246	57416246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:57416246G>A	ENST00000565912.1	+	2	3088	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G172R|CX3CL1_ENST00000006053.6_Missense_Mutation_p.G166R			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	166	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGGTTCCTCAGGGACCAGGCT	0.672000													39	9					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84562262	84562262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:84562262C>T	ENST00000262753.4	-	11	1216	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	POF1B_ENST00000373145.3_Missense_Mutation_p.M357I	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	357							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						TCTCAAGTCTCATCTTGTCAT	0.338000													9	0					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735466	55735466	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55735466G>A	ENST00000312345.2	-	1	524	c.474C>T	c.(472-474)ccC>ccT	p.P158P		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCGCAAAAGGGCAAAAGGA	0.393000													10	57					0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20471157	20471157	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:20471157C>T	ENST00000375102.3	+	4	501	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	90					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ATCACACCATCGAGAACAACA	0.597000													10	34					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497788	95497788	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:95497788C>T	ENST00000432432.2	-	0	1055					NR_040113.1																						TTTCCTTTTTCATGCGAAGGT	0.413000													109	139					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43769853	43769853	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:43769853T>A	ENST00000263801.3	-	8	1130	c.878A>T	c.(877-879)aAg>aTg	p.K293M	TP53BP1_ENST00000450115.2_Missense_Mutation_p.K298M|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K298M|TP53BP1_ENST00000382044.4_Missense_Mutation_p.K298M	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	293					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCTGGTGACTTCTGAATCTG	0.443000								Other conserved DNA damage response genes					17	97					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209141445	209141445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:209141445G>A	ENST00000264380.4	+	4	490	c.332G>A	c.(331-333)aGg>aAg	p.R111K	PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R111K|PIKFYVE_ENST00000308862.6_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	111					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GACACAAGAAGGAAAGCAGAA	0.418000													34	37					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33310184	33310184	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:33310184A>G	ENST00000378526.4	+	2	293	c.160A>G	c.(160-162)Aag>Gag	p.K54E	LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.K54E	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	54					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCTGAGAAGAAAGCCTGTTCT	0.498000								Other BER factors					39	115					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45946486	45946486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:45946486C>T	ENST00000348697.2	+	14	1835	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	FBLN1_ENST00000327858.6_Missense_Mutation_p.S563F|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000402984.3_Missense_Mutation_p.S601F|FBLN1_ENST00000262722.7_Missense_Mutation_p.S563F|FBLN1_ENST00000340923.5_Missense_Mutation_p.S563F|FBLN1_ENST00000442170.2_Missense_Mutation_p.S563F			P23142	FBLN1_HUMAN	fibulin 1	563	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCGCCGCTCCGCAGCCACG	0.612000													37	123					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94527379	94527379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:94527379G>A	ENST00000330836.5	-	4	1408	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	DDX24_ENST00000544005.1_Missense_Mutation_p.S176F|DDX24_ENST00000555054.1_Missense_Mutation_p.S383F	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	426	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTCTGCGTGGACATTCCACC	0.428000													89	22					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713681	70713681	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:70713681C>T	ENST00000530196.1	-	0	837					NR_003951.1																						AATACATCCTCTTGCACCTTT	0.388000													52	52					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76803431	76803431	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:76803431C>T	ENST00000312010.6	-	14	2019	c.1695G>A	c.(1693-1695)ggG>ggA	p.G565G	USP36_ENST00000542802.2_Silent_p.G565G|USP36_ENST00000449938.2_Silent_p.G265G	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	565					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCCTTTGGCTCCCAGATCTGC	0.592000													42	41					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205280897	205280897	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:205280897G>A	ENST00000367157.3	-	2	414	c.288C>T	c.(286-288)caC>caT	p.H96H		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	96	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCTCCGTATGTGCATCAGAT	0.488000													10	147					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119295648	119295648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:119295648C>T	ENST00000338891.7	-	14	3303	c.2860G>A	c.(2860-2862)Gat>Aat	p.D954N	FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	954										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTATTAAAATCTGCCCGCATG	0.338000													78	64					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74525028	74525028	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:74525028G>A	ENST00000422840.2	-	8	1319	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	GLG1_ENST00000205061.5_Silent_p.I440I|GLG1_ENST00000447066.2_Silent_p.I429I	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	440						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGCTTAGGATGATCTCAGGGC	0.512000													136	27					0	0	1	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21168679	21168679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:21168679C>T	ENST00000421593.2	+	1	50	c.50C>T	c.(49-51)tCt>tTt	p.S17F	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATATCCTCTTCTCTTGTTGGT	0.303000													12	8					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59308075	59308075	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:59308075G>A	ENST00000320743.3	-	2	565	c.279C>T	c.(277-279)tcC>tcT	p.S93S	LRIG3_ENST00000379141.4_Silent_p.S33S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	93						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GGTGGCTCATGGAACTTGCCT	0.323000			T	ROS1	NSCLC								76	21					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71334793	71334793	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:71334793T>G	ENST00000392650.3	-	45	6452	c.6452A>C	c.(6451-6453)tAc>tCc	p.Y2151S	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.Y2132S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2151					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGGGGACGGTAGAGGGTGCT	0.597000													21	19					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189441	62189441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:62189441G>A	ENST00000474889.1	+	12	2349	c.1972G>A	c.(1972-1974)Gga>Aga	p.G658R	PTPRG_ENST00000295874.10_Missense_Mutation_p.G658R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	658					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCAGACGGGCGGAAGGAGGGA	0.647000													13	12					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115964519	115964519	+	Silent	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:115964519A>G	ENST00000251864.2	+	10	1317	c.1164A>G	c.(1162-1164)gaA>gaG	p.E388E	TDRD1_ENST00000369282.1_Silent_p.E388E|TDRD1_ENST00000369281.2_Silent_p.E388E|TDRD1_ENST00000369280.1_Silent_p.E388E|TDRD1_ENST00000422662.1_Silent_p.E49E	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	388					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCCAGCAGAAGGGAATTGGA	0.358000													33	18					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71165992	71165992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:71165992G>A	ENST00000357585.2	+	2	903	c.534G>A	c.(532-534)atG>atA	p.M178I	SSTR2_ENST00000315332.2_Missense_Mutation_p.M178I|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	178					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TGCCCATCATGATATATGCTG	0.572000													48	54					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598151	28598151	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:28598151T>A	ENST00000434452.1	-	9	1303	c.1149A>T	c.(1147-1149)ttA>ttT	p.L383F	DSC3_ENST00000360428.4_Missense_Mutation_p.L383F	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	383	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CAGTGTTAATTAAATCCTTAT	0.318000													11	39					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089263	10089263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:10089263G>A	ENST00000264828.3	-	41	3090	c.3005C>T	c.(3004-3006)cCc>cTc	p.P1002L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1002	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGCCCCCACGGGCCCTGGGGG	0.542000													17	30					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142639585	142639585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142639585C>T	ENST00000355265.2	-	18	2447	c.1973G>A	c.(1972-1974)gGg>gAg	p.G658E		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	658					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GACAGTCTCCCCATGGTGCCG	0.597000													9	19					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26676319	26676319	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:26676319G>A	ENST00000288710.2	+	14	1895	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		aaggggagaaggaagaagagg	0.567000													6	38					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85971952	85971952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:85971952C>T	ENST00000372117.3	+	15	1674	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	CDHR1_ENST00000332904.3_Missense_Mutation_p.S524F|CDHR1_ENST00000440770.2_Missense_Mutation_p.S228F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	524	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATCCACCCATCCACTGGGCTT	0.537000													34	111					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17036182	17036182	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:17036182C>T	ENST00000443236.1	-	26	3543	c.3511_splice	c.e26-1	p.G1171_splice		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1124						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATGACGTCCCCTGGTGGGAA	0.562000													68	76					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139889280	139889280	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:139889280T>C	ENST00000297183.6	+	21	3948	c.3824T>C	c.(3823-3825)gTt>gCt	p.V1275A	ANKHD1_ENST00000360839.2_Missense_Mutation_p.V1275A|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V1275A	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGAAGAGTTCTTCTTGAT	0.413000													46	6					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91136933	91136933	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:91136933C>T	ENST00000420329.2	+	3	444	c.297C>T	c.(295-297)tcC>tcT	p.S99S	CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Intron|CRTC3_ENST00000268184.6_Silent_p.S99S	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	99	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGAGGCCATCCAGGAACCGCT	0.537000			T	MAML2	salivary gland mucoepidermoid								61	88					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205211090	205211090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:205211090C>T	ENST00000358024.3	+	2	1054	c.665C>T	c.(664-666)tCc>tTc	p.S222F	TMCC2_ENST00000545499.1_Missense_Mutation_p.S144F|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	222						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCTCTTCCTCCACCACCGAC	0.687000													29	33					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160086658	160086658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:160086658C>T	ENST00000263635.6	+	27	4958	c.4721C>T	c.(4720-4722)cCt>cTt	p.P1574L	TANC1_ENST00000454300.1_Missense_Mutation_p.P1468L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1574						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCTGCCACTCCTGCTGGGAGC	0.557000													76	48					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614683	247614683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247614683G>A	ENST00000318749.6	-	1	625	c.602C>T	c.(601-603)aCc>aTc	p.T201I		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCCAGTATGGTGTCATTCAC	0.572000													26	43					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186953726	186953726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:186953726C>T	ENST00000296280.6	-	11	2158	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.E532K	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	627	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AACATGTTCTCCGTGACGCTG	0.547000													86	38					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47655579	47655579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:47655579C>T	ENST00000273857.4	-	13	1833	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	CORIN_ENST00000502252.1_Missense_Mutation_p.E545K|CORIN_ENST00000505909.1_Missense_Mutation_p.E575K|CORIN_ENST00000504584.1_Missense_Mutation_p.E575K|CORIN_ENST00000508498.1_Missense_Mutation_p.E473K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	612	LDL-receptor class A 5.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CCACAGTTTTCCTCATCACTG	0.408000													38	74					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083035	9083035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9083035G>A	ENST00000397910.4	-	1	8983	c.8780C>T	c.(8779-8781)tCc>tTc	p.S2927F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2928	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACAGTGAGGAAGATGCTGT	0.453000													25	27					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684907	80684907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:80684907C>T	ENST00000269373.6	+	6	863	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	FN3KRP_ENST00000535965.1_Missense_Mutation_p.H214Y	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	264							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTCCGCCTACCACGGCAAAAT	0.507000													69	58					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752194	140752194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140752194G>A	ENST00000576222.1	+	1	2364	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTACAGCGAAAGGACTTT	0.512000													51	4					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161677099	161677099	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:161677099C>T	ENST00000367959.2	+	1	338	c.96C>T	c.(94-96)tcC>tcT	p.S32S	FCRLA_ENST00000350710.3_Silent_p.S32S|FCRLA_ENST00000349527.4_Silent_p.S15S|FCRLA_ENST00000367949.2_Silent_p.S32S|FCRLA_ENST00000236938.6_Silent_p.S32S|FCRLA_ENST00000367950.1_5'UTR|FCRLA_ENST00000294796.4_Silent_p.S15S|FCRLA_ENST00000367957.2_Silent_p.S32S|FCRLA_ENST00000367953.3_Silent_p.S15S|FCRLA_ENST00000546024.1_Silent_p.S32S|FCRLA_ENST00000540926.1_Silent_p.S15S|FCRLA_ENST00000309691.6_Silent_p.S15S|FCRLA_ENST00000540521.1_Silent_p.S32S	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	15					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCTACCTTTCCCTTGGTGTGC	0.493000													24	13					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:30365209G>A	ENST00000389194.2	-	1	61	c.56C>T	c.(55-57)tCt>tTt	p.S19F	LTN1_ENST00000389195.2_Missense_Mutation_p.S19F|LTN1_ENST00000361371.4_5'UTR			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000													7	6					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13613110	13613110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:13613110G>A	ENST00000404922.3	+	2	1374	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	FBLN2_ENST00000535798.1_Missense_Mutation_p.E445K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E419K|FBLN2_ENST00000492059.1_Missense_Mutation_p.E419K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	419	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCACGTGGAGGAGGACACAGA	0.582000													24	52					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183085947	183085947	+	Silent	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:183085947T>C	ENST00000258341.4	+	8	1730	c.1473T>C	c.(1471-1473)ggT>ggC	p.G491G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	491	Laminin EGF-like 4.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCTCGGGGTTGCACACCCT	0.373000													55	51					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053943	49053943	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49053943G>A	ENST00000440857.1	-	9	1266	c.562_splice	c.e9-1	p.D188_splice	DALRD3_ENST00000341949.4_Splice_Site_p.D355_splice|DALRD3_ENST00000313778.5_Splice_Site_p.D188_splice|DALRD3_ENST00000441576.2_Splice_Site_p.D355_splice|DALRD3_ENST00000395462.4_Splice_Site_p.D188_splice			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	355					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCAGGCTGGGTCTGAGGGAG	0.562000													42	53					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107032347	107032347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:107032347C>T	ENST00000409886.3	-	21	5110	c.5023G>A	c.(5023-5025)Gaa>Aaa	p.E1675K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1675K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1675					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCTCTATTTCCCGAAGCAGG	0.438000													95	109					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21842282	21842282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:21842282G>A	ENST00000382254.1	-	8	1888	c.802C>T	c.(802-804)Cga>Tga	p.R268*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.R228*|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R268*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	268	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGGGGAATCGAGGTGGATTG	0.403000										HNSCC(59;0.17)			78	91					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043512	30043512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30043512G>A	ENST00000244360.6	-	1	152	c.55C>T	c.(55-57)Cca>Tca	p.P19S	RNF39_ENST00000376751.3_Missense_Mutation_p.P19S	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	19						cytoplasm	zinc ion binding										CCCTCTCCTGGGATTGCCTCT	0.582000													36	100					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87195442	87195442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:87195442G>A	ENST00000265724.3	-	8	1063	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	ABCB1_ENST00000543898.1_Missense_Mutation_p.L152F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	216	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAAATCACAAGGGTTAGCTTC	0.433000													25	49					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338182	122338182	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:122338182T>G	ENST00000340112.2	-	1	1028	c.791A>C	c.(790-792)aAg>aCg	p.K264T	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	264						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTCATTAGGCTTATAGCGTTC	0.403000													8	98					0	0	1	0	0
NDUFS4	4724	broad.mit.edu	37	5	52954388	52954388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:52954388C>T	ENST00000296684.5	+	4	386	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	120					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	CAGGGCTGATCCCTTATCCAA	0.303000													40	37					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445943	4445943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4445943G>A	ENST00000254718.4	-	21	3292	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P996S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	996					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGAACATGGGAACTGTGAGG	0.632000													131	70					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34085940	34085940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:34085940G>A	ENST00000297161.2	+	8	973	c.599G>A	c.(598-600)aGa>aAa	p.R200K	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Missense_Mutation_p.R200K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	200	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAATGTGTGAGAGAAGTCTGT	0.423000													84	61					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20616169	20616169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:20616169G>A	ENST00000202677.6	-	9	1040	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	300					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAAACAACACGAGCTGCCATA	0.358000													64	110					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731320	24731320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24731320G>A	ENST00000206765.6	-	2	362	c.239C>T	c.(238-240)cCt>cTt	p.P80L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	80	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCGGGAGCCAGGTCTTCGAGT	0.652000													58	95					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156216477	156216477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156216477G>A	ENST00000292291.5	-	2	204	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Intron|PAQR6_ENST00000356983.2_5'UTR|PAQR6_ENST00000368270.1_Intron|PAQR6_ENST00000335852.1_5'UTR|PAQR6_ENST00000360733.2_5'UTR	NM_001272104.1|NM_001272105.1|NM_198406.1	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	16						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CTCACCCGGGGGACCTGGTGG	0.592000													35	56					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170397	39170397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:39170397G>A	ENST00000301819.6	+	14	2071	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	TTC21A_ENST00000431162.2_Missense_Mutation_p.E631K|TTC21A_ENST00000440121.1_Missense_Mutation_p.E583K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	631							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAACTGGTGGAGGCCCTCCG	0.577000													52	57					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863050	154863050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:154863050G>A	ENST00000287907.2	+	1	1017	c.441G>A	c.(439-441)atG>atA	p.M147I	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	147						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)		CGCGCCACATGGAATACACGC	0.622000													45	113					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	695156	695156	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:695156C>T	ENST00000304478.4	+	4	1216	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	370					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		TGCAGCTGGCCGAGAGCACTG	0.617000													51	107					0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7584289	7584289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:7584289C>T	ENST00000597229.1	+	2	331	c.161C>T	c.(160-162)cCg>cTg	p.P54L	CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.P54L	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	54					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AACACTGTCCCGGAAGACGTG	0.612000													44	51					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119469924	119469924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:119469924C>T	ENST00000273390.5	+	17	2361	c.2284C>T	c.(2284-2286)Caa>Taa	p.Q762*	MAATS1_ENST00000472117.1_3'UTR	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GAAAGAAACTCAAAATGAGAA	0.413000													32	25					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52556609	52556609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:52556609G>A	ENST00000321725.6	+	61	6725	c.6649G>A	c.(6649-6651)Ggc>Agc	p.G2217S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2217	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCCACCAGCGGCCCTTATGG	0.602000													105	115					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82838072	82838072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:82838072G>A	ENST00000265077.3	+	8	9815	c.9250G>A	c.(9250-9252)Gca>Aca	p.A3084T	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A2097T|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3084	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGAAGGCACGGCAATCTATTT	0.373000													25	38					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91222268	91222268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:91222268C>T	ENST00000371790.4	-	3	368	c.68G>A	c.(67-69)gGa>gAa	p.G23E	SLC16A12_ENST00000341233.4_5'UTR|RP11-168O10.6_ENST00000454270.1_RNA			Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	0						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TTCTTCTTTTCCAGGTTGCTC	0.488000													15	19					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117714068	117714068	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:117714068G>A	ENST00000276204.6	+	14	1595	c.1521G>A	c.(1519-1521)caG>caA	p.Q507Q	DOCK11_ENST00000498252.1_3'UTR|DOCK11_ENST00000276202.7_Silent_p.Q507Q			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	507					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGACGGCCCAGAAGGTGCACA	0.463000													27	5					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46653009	46653009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:46653009C>T	ENST00000181383.4	-	5	428	c.412G>A	c.(412-414)Gag>Aag	p.E138K	CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.E138K|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	138					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GGATGCCTCTCAGTTATAAAT	0.393000													28	48					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6424307	6424307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:6424307C>T	ENST00000449001.2	+	3	829	c.335C>T	c.(334-336)tCc>tTc	p.S112F	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.S144F|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.S144F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.S144F	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	144					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATCGAGAAGTCCTGGAGGGAG	0.607000													41	48					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35696766	35696766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:35696766C>T	ENST00000353139.5	-	2	564	c.83G>A	c.(82-84)aGa>aAa	p.R28K	ACACA_ENST00000394406.2_5'UTR|ACACA_ENST00000416895.1_5'UTR	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	0					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)	TAACTGACCTCTTATAATTCT	0.284000													12	47					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53736791	53736791	+	Silent	SNP	C	C	T	rs145203578		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:53736791C>T	ENST00000288139.3	+	9	1462	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	CACNA1D_ENST00000350061.5_Silent_p.I448I|CACNA1D_ENST00000422281.2_Silent_p.I448I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	448					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGAGGACATCGATCCGGAGA	0.542000													48	53					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8974052	8974052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:8974052G>A	ENST00000397910.4	-	76	42822	c.42619C>T	c.(42619-42621)Cac>Tac	p.H14207Y	MUC16_ENST00000380951.5_Missense_Mutation_p.H848Y|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14268	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGACAATGTGGAAATTTATC	0.502000													12	26					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47693322	47693322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:47693322G>A	ENST00000397708.1	-	8	2430	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R726C			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	726					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCACGCGTGCGGTTCCACACG	0.507000													34	66					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36211255	36211255	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:36211255T>G	ENST00000222270.7	+	3	1006	c.1006T>G	c.(1006-1008)Tgg>Ggg	p.W336G	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Missense_Mutation_p.W336G|WBP7_ENST00000420124.1_Missense_Mutation_p.W336G	NM_014727.1	NP_055542.1																					TGAGGAAAGTTGGCAGGATGT	0.473000													17	13					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652236	24652236	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24652236G>A	ENST00000354464.6	-	23	2543	c.2367C>T	c.(2365-2367)ccC>ccT	p.P789P	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	789					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GGCGCCCAGGGGGCTTCAGTG	0.677000													38	88					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74283914	74283914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:74283914C>T	ENST00000295897.4	+	12	1627	c.1538C>T	c.(1537-1539)tCa>tTa	p.S513L	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.S513L|ALB_ENST00000503124.1_Missense_Mutation_p.S363L|ALB_ENST00000401494.3_Missense_Mutation_p.S398L|ALB_ENST00000415165.2_Missense_Mutation_p.S321L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	513	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCATGCTTTTCAGCTCTGGAA	0.443000													43	33					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698525	43698525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43698525C>T	ENST00000405312.3	-	5	1447	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PSG4_ENST00000244295.9_Missense_Mutation_p.E311K|PSG4_ENST00000433626.2_Missense_Mutation_p.E311K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	404	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTGGAGCTTTCCTTGCCAGTG	0.468000													193	248					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676348	20676348	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:20676348C>T	ENST00000525748.1	+	16	2601	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	776					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P776P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGATCGACCCCTTGGGAACCT	0.557000													136	166					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73568065	73568065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:73568065G>A	ENST00000392550.3	+	19	2497	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	LLGL2_ENST00000577200.1_Missense_Mutation_p.E794K|LLGL2_ENST00000167462.5_Missense_Mutation_p.E794K	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	794					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGAGCCCCTCGAAGTGGCCCA	0.652000													32	62					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20568666	20568666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:20568666G>A	ENST00000377252.3	+	14	2349	c.1508G>A	c.(1507-1509)aGa>aAa	p.R503K	PLXDC2_ENST00000377242.3_Missense_Mutation_p.R454K|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	503						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATGAAGTTTAGAAGAGGCTCT	0.418000													23	21					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140097	56140097	+	Splice_Site	SNP	T	T	A	rs140553751		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:56140097T>A	ENST00000319441.4	+	9	1484	c.1318_splice	c.e9-1	p.G440_splice	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Splice_Site_p.G123_splice	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	440					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGCTAAAGGTGTCCCTCTAG	0.468000													15	140					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91523621	91523621	+	Splice_Site	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:91523621T>G	ENST00000361188.5	-	7	2034		c.e7-2		PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Splice_Site|PRC1_ENST00000442656.2_Splice_Site|PRC1_ENST00000394249.3_Splice_Site			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1						cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TAATTGCAGCTGAAAGAAAGA	0.408000													43	68					0	0	1	0	0
CHP1	11261	broad.mit.edu	37	15	41555047	41555047	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:41555047C>T	ENST00000334660.5	+	4	555	c.315C>T	c.(313-315)ccC>ccT	p.P105P	CHP1_ENST00000560397.1_Silent_p.P105P|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	105					potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										TGAATGGACCCGAACCACTCA	0.418000													56	96					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122627011	122627011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:122627011G>A	ENST00000303924.4	-	4	1534	c.997C>T	c.(997-999)Cga>Tga	p.R333*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	333						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CACTTAGATCGAGCTGTGTAT	0.468000													63	33					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70178196	70178196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:70178196C>T	ENST00000253925.7	+	9	1423	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S403F	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	403					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCAGCGCTTTCCAAGGTAGTG	0.567000													108	127					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	93962767	93962767	+	Silent	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:93962767T>C	ENST00000553484.1	+	6	877	c.723T>C	c.(721-723)tgT>tgC	p.C241C	UNC79_ENST00000393151.2_Silent_p.C241C|UNC79_ENST00000555664.1_Silent_p.C241C|UNC79_ENST00000256339.4_Silent_p.C64C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	241						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGTATCATTGTCAATTACTGG	0.274000													23	33					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59931274	59931274	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:59931274C>T	ENST00000256858.6	+	17	2651	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	KIAA1468_ENST00000398130.2_Silent_p.I801I			Q9P260	K1468_HUMAN	KIAA1468	801							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCACTATTATCGGAAGTCGTG	0.438000													26	23					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461038	12461038	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:12461038G>C	ENST00000242804.4	-	6	1943	c.1361C>G	c.(1360-1362)aCt>aGt	p.T454S	ZNF442_ENST00000438182.1_Missense_Mutation_p.T385S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCAGTGTGAGTTGTTTCATG	0.388000													19	68					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208693168	208693168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:208693168G>A	ENST00000427836.2	-	8	2650	c.2161C>T	c.(2161-2163)Ccc>Tcc	p.P721S		NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	721					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCGGGCAGGGGACAGACTTT	0.502000													42	62					0	0	1	0	0
PSMC3	5702	broad.mit.edu	37	11	47444150	47444150	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:47444150C>G	ENST00000298852.3	-	8	1016	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	PSMC3_ENST00000530912.1_Missense_Mutation_p.E245Q|PSMC3_ENST00000602866.1_Missense_Mutation_p.E271Q	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	287					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCATCCAACTCATCAATGAAG	0.567000													51	189					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39070657	39070657	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:39070657C>T	ENST00000355481.4	+	99	14516	c.14385C>T	c.(14383-14385)tcC>tcT	p.S4795S	RYR1_ENST00000360985.3_Silent_p.S4795S|RYR1_ENST00000359596.3_Silent_p.S4800S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4800					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGTGATGTCCCTCTTGGGAC	0.592000													161	206					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159162704	159162704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:159162704G>A	ENST00000296529.6	+	11	1366	c.846G>A	c.(844-846)tgG>tgA	p.W282*	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	282						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CCTGCTGTTGGTTCATAGCAA	0.403000													72	170					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392772	124392772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:124392772G>A	ENST00000338354.3	+	49	6182	c.6076G>A	c.(6076-6078)Ggg>Agg	p.G2026R	DMBT1_ENST00000368955.3_Missense_Mutation_p.G2016R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G746R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G2026R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G2016R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1398R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1398R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2026	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTCTATCCCGGGAACTATCC	0.507000													33	101					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35660481	35660481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:35660481G>A	ENST00000342879.3	+	8	1278	c.500G>A	c.(499-501)aGg>aAg	p.R167K	FXYD5_ENST00000541435.2_Missense_Mutation_p.R167K|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392219.2_Missense_Mutation_p.R167K|FXYD5_ENST00000392217.3_Missense_Mutation_p.R96K|FXYD5_ENST00000588699.1_3'UTR|FXYD5_ENST00000590686.1_Missense_Mutation_p.R167K|FXYD5_ENST00000423817.3_Missense_Mutation_p.R167K			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	167					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)			GGCAAGTGCAGGCAGCTGTCC	0.542000													47	61					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155206068	155206068	+	Nonsense_Mutation	SNP	G	G	A	rs121908309		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:155206068G>A	ENST00000428024.2	-	7	1433	c.931C>T	c.(931-933)Cga>Tga	p.R311*	GBA_ENST00000327247.5_Nonsense_Mutation_p.R398*|GBA_ENST00000427500.2_Nonsense_Mutation_p.R349*|GBA_ENST00000368373.3_Nonsense_Mutation_p.R398*|GBA_ENST00000536770.1_Nonsense_Mutation_p.R285*	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	398					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGCATCCCTCGATCCCAGGAG	0.572000									Gaucher disease type I				21	44					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789236	48789236	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:48789236C>A	ENST00000595607.1	+	6	849	c.355C>A	c.(355-357)Cct>Act	p.P119T	ZNF114_ENST00000600687.1_Missense_Mutation_p.P119T|ZNF114_ENST00000315849.1_Missense_Mutation_p.P119T|ZNF114_ENST00000597695.1_Missense_Mutation_p.P85T			Q8NC26	ZN114_HUMAN	zinc finger protein 114	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AGATGAATCTCCTGTTAGCAT	0.463000													63	76					6.88731e-43	7.08522e-43	1	1	0
HRNR	388697	broad.mit.edu	37	1	152185671	152185671	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:152185671A>G	ENST00000368801.2	-	3	8509	c.8434T>C	c.(8434-8436)Tat>Cat	p.Y2812H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2812					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTGCAATAAGAATACCCA	0.483000													6	175					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65804671	65804671	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:65804671T>C	ENST00000341861.5	-	2	1849	c.269A>G	c.(268-270)gAt>gGt	p.D90G	DPP8_ENST00000358939.4_Missense_Mutation_p.D74G|DPP8_ENST00000339244.5_Missense_Mutation_p.D90G|DPP8_ENST00000321118.7_Missense_Mutation_p.D90G|DPP8_ENST00000321147.6_Missense_Mutation_p.D90G|DPP8_ENST00000300141.6_Missense_Mutation_p.D74G|DPP8_ENST00000559233.1_Missense_Mutation_p.D90G	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	90					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCATCTGGATCATTCCTCTT	0.403000													25	92					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115943	15115943	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:15115943G>A	ENST00000253699.3	-	14	2314	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	ZFYVE20_ENST00000476527.2_Silent_p.T567T	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	567	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AAGCAAGGTGGGTGCGAGGCT	0.577000													32	43					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48385556	48385556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:48385556C>T	ENST00000285737.4	+	15	2495	c.2402C>T	c.(2401-2403)cCt>cTt	p.P801L	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.P757L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	801					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTCATTATTCCTCGGAGAAAT	0.448000													30	9					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67151177	67151177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:67151177G>A	ENST00000269081.4	-	31	4586	c.3677C>T	c.(3676-3678)tCc>tTc	p.S1226F	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1226	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AACACAAAAGGAAACATTTCT	0.289000													10	19					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526214	52526214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:52526214C>T	ENST00000345716.4	+	21	4365	c.4231C>T	c.(4231-4233)Cgc>Tgc	p.R1411C	NISCH_ENST00000479054.1_Missense_Mutation_p.R1411C	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1411					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGACGATGGCCGCCGCGTCCG	0.632000													54	202					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672022	30672022	+	Silent	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30672022A>T	ENST00000376406.3	-	10	5585	c.4938T>A	c.(4936-4938)tcT>tcA	p.S1646S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.S1382S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1646					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GAGTCTTGACAGAGGACCTAT	0.577000								Other conserved DNA damage response genes					102	142					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31423046	31423046	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:31423046C>A	ENST00000373747.3	-	17	2886	c.2787G>T	c.(2785-2787)ttG>ttT	p.L929F	PUM1_ENST00000440538.2_Missense_Mutation_p.L902F|PUM1_ENST00000424085.2_Missense_Mutation_p.L686F|PUM1_ENST00000257075.5_Missense_Mutation_p.L928F|PUM1_ENST00000373742.2_Missense_Mutation_p.L869F|PUM1_ENST00000426105.2_Missense_Mutation_p.L928F|PUM1_ENST00000373741.4_Missense_Mutation_p.L964F|PUM1_ENST00000423018.2_Missense_Mutation_p.L784F	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	928	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCTGTAGTGCCAATGACAGGA	0.438000													28	102					2.08457e-15	2.11476e-15	1	1	0
MUC16	94025	broad.mit.edu	37	19	9058095	9058095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9058095G>A	ENST00000397910.4	-	3	29554	c.29351C>T	c.(29350-29352)cCa>cTa	p.P9784L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9786	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCAAATTTGGAGATGAACT	0.478000													39	38					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8242577	8242577	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:8242577G>A	ENST00000539824.1	+	18	4052	c.3678G>A	c.(3676-3678)caG>caA	p.Q1226Q	SH3TC1_ENST00000245105.3_Silent_p.Q1302Q			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1302							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						TCTTCTACCAGAAGGCCAGGA	0.622000													82	76					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227947039	227947039	+	Missense_Mutation	SNP	C	C	T	rs143073539		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:227947039C>T	ENST00000366759.4	+	3	1390	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	SNAP47_ENST00000366760.1_Missense_Mutation_p.R84C|SNAP47_ENST00000315781.5_Missense_Mutation_p.R326C	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	326						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGGCCTATCGTTTGATATC	0.478000													49	101					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95290162	95290162	+	Silent	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:95290162T>C	ENST00000271227.6	+	3	351	c.249T>C	c.(247-249)ccT>ccC	p.P83P	SLC44A3_ENST00000467909.1_Silent_p.P35P|SLC44A3_ENST00000527077.1_Silent_p.P47P|SLC44A3_ENST00000446120.2_Silent_p.P47P|SLC44A3_ENST00000529450.1_Silent_p.P83P|SLC44A3_ENST00000532427.1_Silent_p.P35P	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	83						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AAGGGGCCCCTCTTTCAGGGC	0.488000													135	72					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659684	121659684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:121659684G>A	ENST00000489711.1	+	22	2408	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	SLC15A2_ENST00000295605.2_Missense_Mutation_p.E643K	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	674					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCAGTGGGCCGAATTCATTTT	0.473000													52	46					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302346	31302346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:31302346G>A	ENST00000265071.2	+	6	1205	c.940G>A	c.(940-942)Gat>Aat	p.D314N	CDH6_ENST00000514738.1_Missense_Mutation_p.D259N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	314	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGAGGGGCTGGATATGTTTGA	0.473000													44	60					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695452	153695452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:153695452C>T	ENST00000369682.3	+	18	3335	c.3160C>T	c.(3160-3162)Ccc>Tcc	p.P1054S		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1054	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCCAGGAGCCCCGGGTCCG	0.672000													127	17					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75812356	75812356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:75812356G>A	ENST00000322507.8	-	56	8681	c.8372C>T	c.(8371-8373)cCa>cTa	p.P2791L	COL12A1_ENST00000345356.6_Missense_Mutation_p.P1627L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2715L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2791L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2791	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGAGGGCCTGGAGGACCCTG	0.478000													30	23					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83195190	83195190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:83195190C>T	ENST00000398309.2	-	17	2430	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	DLG2_ENST00000426717.2_Intron|DLG2_ENST00000543673.1_Missense_Mutation_p.E759K|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.E759K|DLG2_ENST00000531015.1_Missense_Mutation_p.E621K|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.E693K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	654						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCACTGGTTTCCTGCTCACTC	0.408000													39	51					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846528	228846528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:228846528C>T	ENST00000392056.3	-	12	5054	c.5008G>A	c.(5008-5010)Gat>Aat	p.D1670N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1641N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1670						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGAAGATATCACCCACTTTC	0.478000													35	40					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322470	152322470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:152322470C>T	ENST00000243326.4	+	29	6919	c.6436C>T	c.(6436-6438)Caa>Taa	p.Q2146*	RIF1_ENST00000428287.2_Nonsense_Mutation_p.Q2146*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.Q2146*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.Q2146*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.Q2146*			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2146	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCATCTCCTCAAAAACTAAG	0.453000													38	46					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143798171	143798171	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:143798171A>C	ENST00000264170.4	+	13	1474	c.1216A>C	c.(1216-1218)Aca>Cca	p.T406P	KYNU_ENST00000409512.1_Missense_Mutation_p.T406P	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	406					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GCTAACAATAACATTTTCTGT	0.413000													20	25					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682600	140682600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140682600G>A	ENST00000239451.4	-	1	1012	c.833C>T	c.(832-834)cCt>cTt	p.P278L		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	278					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCATTGGCAGGGATTGCTCG	0.438000													39	6					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49430446	49430446	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:49430446G>A	ENST00000374201.3	-	12	1667	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	FRMPD2_ENST00000305531.3_Silent_p.I431I|FRMPD2_ENST00000407470.4_Silent_p.I424I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	455	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTCCTCCAGGATATCTTTCC	0.512000													58	48					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769025	247769025	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247769025C>T	ENST00000320002.2	+	1	170	c.138C>T	c.(136-138)atC>atT	p.I46I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCACCATAATCATCATCTCAT	0.463000													82	156					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558231	149558231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:149558231C>T	ENST00000223210.4	+	7	2227	c.1982C>T	c.(1981-1983)cCt>cTt	p.P661L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ACTCTGGCCCCTCTCTACAGT	0.592000													31	25					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052274	90052274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:90052274G>A	ENST00000405460.2	+	56	11680	c.11584G>A	c.(11584-11586)Gac>Aac	p.D3862N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3862	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCCCAGGATGACCTTCCTGA	0.413000													93	108					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62416967	62416967	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62416967C>A	ENST00000330574.2	-	2	637	c.585G>T	c.(583-585)caG>caT	p.Q195H		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	195					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCGAGAGGCACTGCACATAGA	0.542000													96	103					2.25818e-43	2.32455e-43	1	1	0
ZNF480	147657	broad.mit.edu	37	19	52825826	52825826	+	Silent	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52825826C>G	ENST00000595962.1	+	5	1389	c.1323C>G	c.(1321-1323)ggC>ggG	p.G441G	ZNF480_ENST00000335090.6_Silent_p.G364G|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.G398G|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGTATTCAGGCCTTTCAGCCC	0.388000													62	105					0	0	1	0	0
LOC101929066	101929066	broad.mit.edu	37	8	17944394	17944394	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:17944394C>T	ENST00000499554.2	+	0	319				CTD-2547L16.1_ENST00000517747.1_RNA|CTD-2547L16.1_ENST00000505114.2_RNA|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000521775.1_RNA																							TTTTACAGGTCTTTGTGGGAA	0.299000													12	12					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379631	204379631	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:204379631G>A	ENST00000367188.4	-	1	1288	c.909C>T	c.(907-909)ttC>ttT	p.F303F	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	303					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCTGTTGAAGGAATTCCAGCC	0.532000													153	151					0	0	1	0	0
COMMD9	29099	broad.mit.edu	37	11	36302279	36302279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:36302279G>A	ENST00000263401.5	-	2	176	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	COMMD9_ENST00000452374.2_Intron|COMMD9_ENST00000532705.1_Nonsense_Mutation_p.Q54*	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	54										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GCCTCCTCCTGGGTCACAGAC	0.463000													58	78					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218807	49218807	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:49218807G>A	ENST00000327979.2	-	13	1860	c.1449C>T	c.(1447-1449)tcC>tcT	p.S483S	FAM65C_ENST00000045083.2_Silent_p.S483S|FAM65C_ENST00000535356.1_Silent_p.S487S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	483										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTGGAACAGGGAGCCCTGTG	0.682000													27	42					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300618	18300618	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:18300618G>A	ENST00000441493.2	-	26	5161	c.4809C>T	c.(4807-4809)tcC>tcT	p.S1603S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1603						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.S1603S(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTCTTCACGGACTTCTCCC	0.692000													3	57					0	0	1	0	0
GPHB5	122876	broad.mit.edu	37	14	63784528	63784528	+	RNA	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:63784528G>T	ENST00000539258.1	-	0	92							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GAAGGAGGAGGGCCATGGGGC	0.582000													39	17					1.23713e-20	1.25981e-20	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26286818	26286818	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:26286818C>T	ENST00000335473.7	+	26	4660	c.4410C>T	c.(4408-4410)gcC>gcT	p.A1470A	MYO18B_ENST00000407587.2_Silent_p.A1471A|MYO18B_ENST00000536101.1_Silent_p.A1470A|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000600211.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1470	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCTACAGGCCTTCCGGGAGG	0.612000													14	39					0	0	1	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339441	11339441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:11339441C>T	ENST00000334266.1	-	1	102	c.103G>A	c.(103-105)Ggg>Agg	p.G35R		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TTCTTGATCCCTTCAGAGCAG	0.438000													62	100					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39777066	39777066	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:39777066G>A	ENST00000540235.1	-	9	1502	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	KRT17_ENST00000311208.8_Silent_p.I342I			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCAGCCCCTGGATCTGGGACA	0.607000													47	160					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927895	22927895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:22927895G>A	ENST00000166244.3	+	16	2904	c.2832G>A	c.(2830-2832)atG>atA	p.M944I		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	944	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATCCGCATGGGCCGGTACC	0.692000													68	205					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3801800	3801800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:3801800G>A	ENST00000225538.3	-	10	1284	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	337	Pore-forming motif (Potential).				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCAATTCCAGAGCCGATGGT	0.592000													20	64					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557273	40557273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40557273G>A	ENST00000357037.5	-	2	1024	c.605C>T	c.(604-606)tCg>tTg	p.S202L		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	202					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTCGTCCGACGAAAGCTCCAG	0.667000													170	189					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823709	47823709	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:47823709C>T	ENST00000355085.3	+	2	697	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	225					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACACTTTCATCCTGCTCCGGA	0.612000													127	167					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416433	113416433	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:113416433C>T	ENST00000272542.3	+	7	1349	c.810C>T	c.(808-810)ccC>ccT	p.P270P	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	270					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CTGAAAGCCCCTTAATGGAAA	0.403000													37	49					0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11034639	11034639	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:11034639C>A	ENST00000586748.1	-	7	693	c.521G>T	c.(520-522)tGg>tTg	p.W174L	YIPF2_ENST00000590329.1_Missense_Mutation_p.W135L|YIPF2_ENST00000253031.2_Missense_Mutation_p.W174L			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	174						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GGGCACCAGCCACGCATAGCA	0.672000													18	28					4.35082e-09	4.39446e-09	1	1	0
OR8H2	390151	broad.mit.edu	37	11	55872770	55872770	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55872770G>A	ENST00000313503.1	+	1	252	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAACCTTAGCGAACTTACTGA	0.438000										HNSCC(53;0.14)			193	242					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97363851	97363851	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:97363851G>A	ENST00000457909.1	+	0	3817							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						AACTCTACCAGGAGCAGCCCA	0.602000													12	24					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140058343	140058343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:140058343G>A	ENST00000371561.3	+	18	3673	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	GRIN1_ENST00000371550.4_Missense_Mutation_p.R859Q|GRIN1_ENST00000350902.5_Missense_Mutation_p.R859Q|GRIN1_ENST00000371555.4_Missense_Mutation_p.R880Q|GRIN1_ENST00000371560.3_Missense_Mutation_p.R880Q|GRIN1_ENST00000371546.4_Missense_Mutation_p.R880Q|GRIN1_ENST00000371559.4_Missense_Mutation_p.R859Q|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Missense_Mutation_p.R859Q|GRIN1_ENST00000371553.3_Missense_Mutation_p.R880Q	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	859					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AACGTGTGGCGGAAGAACCTG	0.657000													39	7					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821895	72821895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:72821895G>A	ENST00000268489.5	-	10	10952	c.10280C>T	c.(10279-10281)aCc>aTc	p.T3427I	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T2513I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3427					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCACGGGGGGTGTTTTTCTG	0.577000													113	15					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109282807	109282807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:109282807G>A	ENST00000392644.4	+	14	2116	c.1948G>A	c.(1948-1950)Gtg>Atg	p.V650M	ARMC2_ENST00000368972.3_Missense_Mutation_p.V485M|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	650							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TGAGGAGCTGGTGATCAATGC	0.378000													15	36					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632538	143632538	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:143632538C>T	ENST00000408955.2	+	1	280	c.213C>T	c.(211-213)gtC>gtT	p.V71V		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTGTCGATGTCTCCTATGCCA	0.512000													113	246					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402931	248402931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248402931G>A	ENST00000306687.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			GGGGAAAGTCGTCGCAAGGCC	0.483000													22	27					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62339039	62339039	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62339039G>A	ENST00000378019.3	-	4	591	c.501C>T	c.(499-501)acC>acT	p.T167T	EEF1G_ENST00000329251.4_Silent_p.T117T|EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	117	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGATGCCCAAGGTGGGGAACA	0.572000													5	12					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95733109	95733109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:95733109C>T	ENST00000311106.3	-	12	1890	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Nonsense_Mutation_p.W504*	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	551					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATGAAGTCCCAATTCTTAA	0.393000													32	34					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101742024	101742024	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:101742024T>A	ENST00000251127.6	-	30	3560	c.3479A>T	c.(3478-3480)aAt>aTt	p.N1160I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1160						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGTTTTCATTGAAATTAGC	0.388000													12	33					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22154060	22154060	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:22154060A>G	ENST00000389398.5	+	25	2662	c.2566A>G	c.(2566-2568)Aag>Gag	p.K856E	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	856						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTTACCCAGAAAGGATACAGT	0.448000													7	2					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976887	119976887	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:119976887G>A	ENST00000313400.4	-	3	865	c.765C>T	c.(763-765)atC>atT	p.I255I	ASTN2_ENST00000373996.3_Silent_p.I255I|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.I255I			O75129	ASTN2_HUMAN	astrotactin 2	255						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						GCACAGATGGGATGTAGTGGA	0.622000													56	9					0	0	1	0	0
LRAT	9227	broad.mit.edu	37	4	155665896	155665896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:155665896G>A	ENST00000336356.3	+	2	671	c.418G>A	c.(418-420)Gag>Aag	p.E140K	LRAT_ENST00000507827.1_Missense_Mutation_p.E140K	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	140					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GCTCAACGAGGAGGTGGCGCG	0.587000													62	58					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067908	9067908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9067908G>A	ENST00000397910.4	-	3	19741	c.19538C>T	c.(19537-19539)tCc>tTc	p.S6513F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6515	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACAGAAGGGAAGAGGAAGA	0.473000													16	13					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123296237	123296237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:123296237G>A	ENST00000458573.2	+	1	377	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	LMOD2_ENST00000456238.2_Missense_Mutation_p.E74K	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	74	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										GGCCTATTGGGAAAAGGAGTC	0.552000													7	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615801	179615801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179615801G>A	ENST00000360870.5	-	46	11548	c.11326C>T	c.(11326-11328)Ctt>Ttt	p.L3776F	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9613							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)			TGATTAGAAAGGGCATGTGGA	0.353000													37	59					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9220803	9220803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:9220803C>T	ENST00000318602.7	-	35	4691	c.4384G>A	c.(4384-4386)Gag>Aag	p.E1462K		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1462					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCATTGTACTCAGCAATTGCA	0.423000													25	33					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153317847	153317847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:153317847C>T	ENST00000359650.5	-	4	215	c.151G>A	c.(151-153)Gat>Aat	p.D51N	PGLYRP4_ENST00000368739.3_Splice_Site|PGLYRP4_ENST00000490266.1_Splice_Site	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	51					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGAGACATCTGTGGGAAGG	0.587000													79	117					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173675	207173675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:207173675G>A	ENST00000374423.3	+	5	4809	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1475							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTCTTACAAAGAGGCAGACCT	0.373000													4	7					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696448	7696448	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:7696448C>T	ENST00000572933.1	+	48	8954	c.7494C>T	c.(7492-7494)ccC>ccT	p.P2498P	DNAH2_ENST00000389173.2_Silent_p.P2498P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2498	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAGCCACCCCTGGAGCTGA	0.512000													73	64					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345282	5345282	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:5345282G>A	ENST00000328813.2	-	1	300	c.246C>T	c.(244-246)atC>atT	p.I82I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCCATAGGATGCCCATTA	0.502000													39	43					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274538	238274538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:238274538G>A	ENST00000295550.4	-	12	6093	c.5641C>T	c.(5641-5643)Cgc>Tgc	p.R1881C	COL6A3_ENST00000409809.1_Missense_Mutation_p.R1675C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1675C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1680C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1681C|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1274C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1881	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTGGGCGAGCGGCCACCGCTG	0.597000													93	141					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42488319	42488319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:42488319C>T	ENST00000318522.5	+	4	659	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Missense_Mutation_p.H133Y	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	133					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.H133D(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						agaggaaTCTCATTCTAATGA	0.368000			T	ALK	NSCLC								33	41					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41820202	41820202	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:41820202G>A	ENST00000304330.4	-	11	1400	c.1284C>T	c.(1282-1284)gaC>gaT	p.D428D	RPAP1_ENST00000561603.1_Silent_p.D428D|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	428						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGCTAGCCGGTCCCCAAACT	0.542000													21	43					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329126	80329126	+	Missense_Mutation	SNP	C	C	T	rs149134428		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:80329126C>T	ENST00000358842.3	-	1	246	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	77					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ATATTCAGTTCGTCAAGTTTC	0.418000													116	104					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17191139	17191139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:17191139G>A	ENST00000285681.2	+	10	1423	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.E352K|USP25_ENST00000400183.2_Missense_Mutation_p.E352K			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	352					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTTACATTCAGAGAATTCAGG	0.403000													74	106					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87370828	87370828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:87370828G>A	ENST00000338056.3	+	7	1024	c.613G>A	c.(613-615)Gga>Aga	p.G205R	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.G188R|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.G188R	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	205	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTGCCTAAAGGGAGAGGGGCT	0.299000													9	28					0	0	1	0	0
BDNF-AS	497258	broad.mit.edu	37	11	27528409	27528409	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:27528409C>T	ENST00000499008.3	+	0	11				BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA	NR_002832.2																						ATCGCGAGATCAGGAAGGTGG	0.622000													9	9					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79536116	79536116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:79536116C>T	ENST00000374747.5	-	14	1504	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	NPLOC4_ENST00000539314.1_Missense_Mutation_p.D298N|NPLOC4_ENST00000331134.6_Missense_Mutation_p.D459N			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	459					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TAAACTGGATCCTTGGGGAAA	0.423000													10	84					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325976	57325976	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:57325976T>G	ENST00000326441.9	-	10	4197	c.3834A>C	c.(3832-3834)gaA>gaC	p.E1278D	PEG3_ENST00000593695.1_Missense_Mutation_p.E1152D|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1278D|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1154D|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1278					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAGTCTCTCTTCGGTCTGAC	0.468000													27	43					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953106	196953106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:196953106C>T	ENST00000367414.5	+	3	397	c.341C>T	c.(340-342)cCt>cTt	p.P114L	CFHR5_ENST00000256785.4_Missense_Mutation_p.P90L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	90	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGTTCCTTTCCTTTTGTGAAA	0.308000													15	29					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19373209	19373209	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:19373209C>T	ENST00000263208.5	-	12	1420	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E	HIRA_ENST00000541063.1_Silent_p.E344E|HIRA_ENST00000340170.4_Silent_p.E388E|HIRA_ENST00000546308.1_Silent_p.E344E	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	388					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGAGCTGGGCCTCGGTCATGA	0.597000													21	22					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152095957	152095957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:152095957G>A	ENST00000409598.4	-	7	1726	c.559C>T	c.(559-561)Cca>Tca	p.P187S	SH3D19_ENST00000427414.2_Missense_Mutation_p.P187S|SH3D19_ENST00000514152.1_Missense_Mutation_p.P187S|SH3D19_ENST00000424281.1_Missense_Mutation_p.P187S|SH3D19_ENST00000409252.2_Missense_Mutation_p.P187S|SH3D19_ENST00000455740.1_Missense_Mutation_p.P187S|SH3D19_ENST00000304527.4_Missense_Mutation_p.P187S			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	187	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGGTTGGCTGGGGGCCCTTCT	0.572000													194	408					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24145601	24145601	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:24145601A>G	ENST00000344921.6	+	5	854	c.647A>G	c.(646-648)aAc>aGc	p.N216S	SMARCB1_ENST00000263121.7_Missense_Mutation_p.N207S|SMARCB1_ENST00000407422.3_Missense_Mutation_p.N198S|SMARCB1_ENST00000407082.3_Missense_Mutation_p.N161S			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	207	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTCACCTGGAACATGAATGGT	0.612000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							19	54					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414344	121414344	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:121414344G>A	ENST00000260197.7	+	13	1902	c.1773G>A	c.(1771-1773)ggG>ggA	p.G591G	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	591					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGAACCTGGGGAGAAGAGCA	0.507000													83	103					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25471998	25471998	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:25471998G>A	ENST00000278886.6	-	11	1547	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	NINL_ENST00000422516.1_Silent_p.L492L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	492					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCAGGGCCAGGGTCAGCTTC	0.672000													48	67					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928671	49928671	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49928671C>T	ENST00000296474.3	-	17	3630	c.3603G>A	c.(3601-3603)gaG>gaA	p.E1201E	MST1R_ENST00000344206.4_Silent_p.E1152E	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1201	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAACTTCTGCTCTGCCAGGT	0.617000													67	81					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996995	31996995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31996995G>A	ENST00000435363.2	+	28	3640	c.3556G>A	c.(3556-3558)Ggg>Agg	p.G1186R	C4B_ENST00000425700.2_Missense_Mutation_p.G1186R	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1186					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGCAAGTGCTGGGCTCCTGGG	0.617000													59	176					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112155002	112155002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:112155002G>A	ENST00000457016.1	+	10	1653	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	APC_ENST00000257430.4_Missense_Mutation_p.E425K|APC_ENST00000508376.2_Missense_Mutation_p.E425K			P25054	APC_HUMAN	adenomatous polyposis coli	425	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAGTGGCAGGAAGCTCATGA	0.443000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			30	56					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20525458	20525458	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:20525458C>T	ENST00000504154.1	+	13	1458	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	SLIT2_ENST00000503837.1_Silent_p.S406S|SLIT2_ENST00000503823.1_Silent_p.S402S|SLIT2_ENST00000273739.5_Silent_p.S406S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	402					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCTTCTCTCCCTATATGACA	0.398000													98	107					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612277	189612277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:189612277G>A	ENST00000264731.3	+	14	2118	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	TP63_ENST00000449992.1_Missense_Mutation_p.E498K|TP63_ENST00000354600.5_Missense_Mutation_p.E583K|TP63_ENST00000440651.2_Missense_Mutation_p.E673K|TP63_ENST00000382063.4_Missense_Mutation_p.E592K|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Missense_Mutation_p.E579K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	677	Transactivation inhibition.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCGCATCAAAGAGGAGGGGGA	0.527000										HNSCC(45;0.13)			36	31					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62567416	62567416	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:62567416G>A	ENST00000430451.2	+	6	2126	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	643										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACACTTTGCTGGAATCCTAGG	0.517000													12	24					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14077499	14077499	+	Silent	SNP	G	G	A	rs145518949		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:14077499G>A	ENST00000254325.4	-	13	2031	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	599					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGGCCCGACGCCCTCAGGCA	0.672000													5	184					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813294	106813294	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:106813294C>T	ENST00000407775.2	+	8	1234	c.984C>T	c.(982-984)ttC>ttT	p.F328F	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.F196F|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.F196F|ZFPM2_ENST00000378472.4_Silent_p.F59F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	328					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGAAGAATTCCTGCCCCCTG	0.428000													41	128					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4881825	4881825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4881825G>A	ENST00000361571.5	-	9	2147	c.1736C>T	c.(1735-1737)cCt>cTt	p.P579L	CAMTA2_ENST00000414043.3_Missense_Mutation_p.P603L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P580L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P582L|CAMTA2_ENST00000348066.3_Missense_Mutation_p.P580L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P585L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	580	IPT/TIG.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TAAGACACCAGGCTGGACAAG	0.577000													135	87					0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797110	20797110	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:20797110C>T	ENST00000356192.6	-	5	1130	c.510G>A	c.(508-510)ggG>ggA	p.G170G	GJB6_ENST00000241124.6_Silent_p.G170G|GJB6_ENST00000400065.3_Silent_p.G170G|GJB6_ENST00000400066.3_Silent_p.G170G	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	170					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AGGGGTCAATCCCACATTTCA	0.443000													33	58					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109367830	109367830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:109367830C>T	ENST00000283195.6	+	10	1510	c.1384C>T	c.(1384-1386)Cat>Tat	p.H462Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	462					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACAGCTTTTCCATCATTTGCC	0.368000													81	144					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294703	31294703	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:31294703G>A	ENST00000542188.1	-	27	4564	c.4251C>T	c.(4249-4251)tcC>tcT	p.S1417S	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.S1378S|TRPM1_ENST00000256552.6_Silent_p.S1400S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1378					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTAAACTTGGGGAAATAGTTT	0.348000													46	65					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631024	67631024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:67631024C>T	ENST00000272342.5	+	5	1340	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	404						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGAACTCTTTCCTTCTAAAAC	0.353000													40	54					0	0	1	0	0
THY1	7070	broad.mit.edu	37	11	119290157	119290157	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:119290157G>A	ENST00000284240.5	-	4	1486	c.447C>T	c.(445-447)tcC>tcT	p.S149S	USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Silent_p.S149S|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000580275.1_Silent_p.S132S|USP2-AS1_ENST00000578923.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	149					angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GGAGGGAGAGGGAGAGCAGGA	0.602000													64	93					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681841	69681841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:69681841G>A	ENST00000265403.7	+	1	131	c.104G>A	c.(103-105)tGg>tAg	p.W35*	UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.W35*	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	35					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACAGCCTTTGGATGAATATG	0.443000													34	40					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553770	140553770	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140553770A>G	ENST00000231137.3	+	1	1528	c.1354A>G	c.(1354-1356)Acc>Gcc	p.T452A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		452					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCGCCTTCACCCAAACCTC	0.602000													80	117					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23808674	23808674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:23808674G>A	ENST00000354639.3	+	12	1872	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	STK31_ENST00000433467.2_Missense_Mutation_p.E493K|STK31_ENST00000428484.1_Missense_Mutation_p.E470K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E493K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	493							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATTCTGATGAAATACTTAA	0.368000													11	34					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93773740	93773740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:93773740C>T	ENST00000265990.6	+	32	4846	c.4538C>T	c.(4537-4539)cCa>cTa	p.P1513L	BTAF1_ENST00000544642.1_Missense_Mutation_p.P341L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1513					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CAGGATCTTCCACCTAAAATT	0.368000													31	106					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64124590	64124590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:64124590G>A	ENST00000359902.2	+	14	1919	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000301897.4_3'UTR			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1413					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGGCTTGGGAGTGCAGCCT	0.647000													67	69					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157818074	157818074	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:157818074T>A	ENST00000490689.2	-	3	1728	c.195A>T	c.(193-195)aaA>aaT	p.K65N	SHOX2_ENST00000483851.2_Missense_Mutation_p.K194N|SHOX2_ENST00000441443.2_Missense_Mutation_p.K65N|SHOX2_ENST00000389589.4_Missense_Mutation_p.K218N|SHOX2_ENST00000425436.3_Missense_Mutation_p.K194N			O60902	SHOX2_HUMAN	short stature homeobox 2	194	Poly-Gly.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTTTCTACATTTAGCTCTTC	0.294000													26	68					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154247884	154247884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:154247884C>T	ENST00000328703.7	+	6	892	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HAX1_ENST00000532105.1_Missense_Mutation_p.R99W|HAX1_ENST00000457918.2_Missense_Mutation_p.R179W|HAX1_ENST00000483970.2_Missense_Mutation_p.R235W	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	227	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGAGCGCCGGACTGTGGT	0.498000									Kostmann syndrome				86	177					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46331304	46331304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:46331304G>A	ENST00000359930.4	-	4	1377	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SULF2_ENST00000484875.1_Missense_Mutation_p.R176W|SULF2_ENST00000467815.1_Missense_Mutation_p.R176W|SULF2_ENST00000361612.4_Missense_Mutation_p.R176W	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	176					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACCCCGTTCCGACACAGCGTG	0.542000													55	44					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32739683	32739683	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:32739683A>G	ENST00000531481.1	-	3	422	c.146T>C	c.(145-147)aTt>aCt	p.I49T	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000335185.5_Missense_Mutation_p.I49T			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	49										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCATAATGAATTTCTGCTTC	0.338000													44	49					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695453	153695453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:153695453C>T	ENST00000369682.3	+	18	3336	c.3161C>T	c.(3160-3162)cCc>cTc	p.P1054L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1054	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCCAGGAGCCCCGGGTCCGT	0.672000													126	17					0	0	1	0	0
GSTK1	373156	broad.mit.edu	37	7	142961653	142961653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142961653C>T	ENST00000479303.1	+	3	225	c.167C>T	c.(166-168)cCa>cTa	p.P56L	GSTK1_ENST00000409500.3_Missense_Mutation_p.P56L|GSTK1_ENST00000358406.5_Missense_Mutation_p.P56L|GSTK1_ENST00000443571.2_Intron|GSTK1_ENST00000494735.1_3'UTR|AC073342.12_ENST00000427392.1_RNA	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	56						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AACAAGCCTCCAGGTCTGCTT	0.532000													68	215					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45935913	45935913	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:45935913C>T	ENST00000374391.2	+	8	1070	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	ALOX5_ENST00000542434.1_Silent_p.F339F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	339	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCCTATTTTCCTCCCTTCGG	0.483000													50	51					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167852752	167852752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:167852752G>A	ENST00000367848.1	-	9	1164	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	ADCY10_ENST00000545172.1_Nonsense_Mutation_p.Q162*|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.Q315*			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	315					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAGGCATCCTGGATGGCTGGG	0.453000													71	96					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897926	36897926	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:36897926A>C	ENST00000301807.6	-	12	3402	c.1505T>G	c.(1504-1506)gTt>gGt	p.V502G	TRANK1_ENST00000428977.2_Missense_Mutation_p.V502G|TRANK1_ENST00000429976.2_Missense_Mutation_p.V1052G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1052					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCCAGTAAACGTGGAATTT	0.527000													9	11					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183491520	183491520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:183491520C>A	ENST00000305135.5	+	17	2501	c.2306C>A	c.(2305-2307)tCa>tAa	p.S769*		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	769					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAGAACCCTTCAGGAAAAGGA	0.463000													12	48					0.000219431	0.000220664	1	1	0
USP45	85015	broad.mit.edu	37	6	99958081	99958081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:99958081G>A	ENST00000327681.6	-	2	548	c.16C>T	c.(16-18)Cca>Tca	p.P6S	USP45_ENST00000500704.2_Missense_Mutation_p.P6S|USP45_ENST00000329966.5_Missense_Mutation_p.P6S|USP45_ENST00000369231.3_Missense_Mutation_p.P6S|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000369233.2_Missense_Mutation_p.P6S|USP45_ENST00000472914.2_Missense_Mutation_p.P6S	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	6					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GCTTTAGTTGGATCTTTCACC	0.308000													36	100					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682602	140682602	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140682602G>C	ENST00000239451.4	-	1	1010	c.831C>G	c.(829-831)atC>atG	p.I277M		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	277					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CATTGGCAGGGATTGCTCGAA	0.443000													38	6					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746477	158746477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:158746477G>A	ENST00000339258.1	-	1	948	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GAAAGTCAAAGATGAGCAAGA	0.378000													58	81					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76083028	76083028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:76083028C>T	ENST00000335749.4	+	13	4216	c.3647C>T	c.(3646-3648)cCg>cTg	p.P1216L	TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1216L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1219L|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1219L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1219L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1216L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1219	Pro-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCACCGCCACCGCCCCCGCCG	0.667000													37	57					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142030475	142030475	+	Nonsense_Mutation	SNP	G	G	A	rs78926178		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:142030475G>A	ENST00000264951.4	-	42	5116	c.4999C>T	c.(4999-5001)Caa>Taa	p.Q1667*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.Q1655*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1667					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTTTCAACTTGAAAAGAAGAT	0.418000													49	25					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182396419	182396419	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:182396419C>T	ENST00000397033.2	+	25	3130	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	900					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.F900L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTTTAAATTTCTTGTGTAATT	0.308000													37	50					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493444	60493444	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:60493444C>T	ENST00000450662.2	+	12	1298	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	EFCAB3_ENST00000305286.3_Silent_p.I357I	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	357							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GGCAGAAGATCCGAGGGGATT	0.423000													24	78					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104682758	104682758	+	Silent	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:104682758C>G	ENST00000526691.1	+	2	516	c.60C>G	c.(58-60)acC>acG	p.T20T	TXNRD1_ENST00000525566.1_Silent_p.T118T|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000542918.1_Silent_p.T18T|TXNRD1_ENST00000429002.2_Silent_p.T118T|TXNRD1_ENST00000388854.3_Silent_p.T20T|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000378070.4_Silent_p.T67T|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000526390.1_5'UTR	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	118					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CCGCGGAAACCGATCTGCCCG	0.552000													61	134					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151514067	151514067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:151514067C>T	ENST00000370314.4	-	3	486	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GABRA3_ENST00000370311.1_Missense_Mutation_p.R83Q|GABRA3_ENST00000535043.1_Missense_Mutation_p.R83Q	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	83					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R83Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGCCCAGGTCGCAGCCGGTT	0.453000													40	9					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9476009	9476009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:9476009C>T	ENST00000407969.1	+	3	240	c.226C>T	c.(226-228)Cct>Tct	p.P76S	SETD5_ENST00000402198.1_Intron|SETD5_ENST00000302463.6_Intron|SETD5_ENST00000406341.1_Intron|SETD5_ENST00000402466.1_Intron			Q9C0A6	SETD5_HUMAN	SET domain containing 5	59										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGCTTCTCCCCCTGTCCAGAC	0.527000													15	41					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640164	156640164	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156640164G>A	ENST00000368223.3	-	4	3948	c.3816C>T	c.(3814-3816)ccC>ccT	p.P1272P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1272	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.P1272P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGGCCCTCGGGGATCTCCC	0.642000													39	86					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818917	159818917	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:159818917C>T	ENST00000497452.1	-	0	517																											gaagCGAGATCGAGACCGGGT	0.488000													67	156					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554741	34554741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:34554741C>T	ENST00000373381.4	-	2	417	c.241G>A	c.(241-243)Ggg>Agg	p.G81R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	41	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TATGGGAACCCTGGGCTCTCA	0.537000													20	66					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173939703	173939703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:173939703C>T	ENST00000367696.2	-	9	1625	c.1274G>A	c.(1273-1275)aGa>aAa	p.R425K	RC3H1_ENST00000258349.4_Missense_Mutation_p.R425K|RC3H1_ENST00000367694.2_Missense_Mutation_p.R425K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	425					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCATCCTCCTCTCTGCTTCAT	0.428000													129	135					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8402739	8402739	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:8402739C>T	ENST00000330915.3	-	0	39				KANK3_ENST00000593649.1_De_novo_Start_InFrame	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3											breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GTCAGAGGCACCCTGCAAAAG	0.577000													41	69					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085622	92085622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:92085622C>T	ENST00000298047.6	+	1	361	c.344C>T	c.(343-345)gCc>gTc	p.A115V	FAT3_ENST00000541502.1_Missense_Mutation_p.A115V|FAT3_ENST00000409404.2_Missense_Mutation_p.A115V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	115	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCAATTCTGCCATATTAAAT	0.378000										TCGA Ovarian(4;0.039)			13	18					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457264	25457264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:25457264G>A	ENST00000278886.6	-	17	2736	c.2663C>T	c.(2662-2664)aCg>aTg	p.T888M	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	888					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGGCTCTGCGTAGCTTCTGT	0.697000													7	44					0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122968515	122968515	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:122968515C>T	ENST00000448775.2	-	2	514	c.174G>A	c.(172-174)ggG>ggA	p.G58G		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	58	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CTTTTTGGTTCCCTTCATTAT	0.493000													59	79					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86693821	86693821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:86693821C>T	ENST00000409556.1	+	11	1699	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	KDM3A_ENST00000542128.1_Missense_Mutation_p.S393F|KDM3A_ENST00000312912.5_Missense_Mutation_p.S445F|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000409064.1_Missense_Mutation_p.S445F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	445					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CATGCACCTTCCCCATCGGAT	0.448000													56	95					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95552020	95552020	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:95552020C>T	ENST00000325542.5	+	6	889	c.651C>T	c.(649-651)ctC>ctT	p.L217L	CEP57_ENST00000537677.1_Silent_p.L190L|CEP57_ENST00000541150.1_Silent_p.L208L|CEP57_ENST00000538658.1_Silent_p.L217L|CEP57_ENST00000325486.5_Silent_p.L217L	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	217	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGCAAAACTCCATGAAGAAG	0.353000									Mosaic Variegated Aneuploidy Syndrome				25	40					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910146	108910146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:108910146G>A	ENST00000326853.5	+	2	476	c.23G>A	c.(22-24)gGg>gAg	p.G8E	SULT1C2_ENST00000251481.6_Missense_Mutation_p.G8E|SULT1C2_ENST00000409880.1_Missense_Mutation_p.G8E|SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000437390.2_Missense_Mutation_p.G8E	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	8					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCAGACCTGGGGAAACAGATA	0.483000													38	50					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380889	108380889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:108380889G>A	ENST00000265843.4	-	6	5455	c.5345C>T	c.(5344-5346)tCt>tTt	p.S1782F	EXPH5_ENST00000428840.1_Missense_Mutation_p.S1706F|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1594F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1775F	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1782					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)		CCACTCCAGAGATGAAGCACT	0.478000													62	67					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228447306	228447306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:228447306G>A	ENST00000570156.2	+	17	5040	c.4966G>A	c.(4966-4968)Gag>Aag	p.E1656K	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.E128K|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	642	Ig-like 17.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCAGACAGAGGTGACTTG	0.617000													43	113					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107780385	107780385	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:107780385C>T	ENST00000369037.4	-	1	382	c.105G>A	c.(103-105)gtG>gtA	p.V35V	PDSS2_ENST00000369031.4_Silent_p.V35V|PDSS2_ENST00000453874.2_Silent_p.V35V	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	35					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCCAAGAGCCCACCGAGGAGA	0.632000											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	93	59					0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140174065	140174065	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:140174065G>A	ENST00000357503.2	+	2	1120	c.924G>A	c.(922-924)acG>acA	p.T308T		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	308					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										CCGAGGTCACGCGCTTCGTGC	0.721000													6	11					0	0	1	0	0
PPCDC	60490	broad.mit.edu	37	15	75341001	75341001	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:75341001C>T	ENST00000342932.3	+	5	612	c.468C>T	c.(466-468)ctC>ctT	p.L156L	PPCDC_ENST00000567336.1_Silent_p.L124L|PPCDC_ENST00000568649.1_Silent_p.L113L|PPCDC_ENST00000564923.1_Silent_p.L81L|PPCDC_ENST00000563393.1_Silent_p.L33L	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	156					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						TAGACCAGCTCAAGGCCTTTG	0.612000													105	121					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268743	44268743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:44268743G>A	ENST00000315087.7	-	4	1111	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.P120S|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.P187S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	151					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGCACCTTGGGAAACATGCGG	0.592000													58	139					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2833848	2833848	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:2833848C>T	ENST00000317243.5	+	5	813	c.615C>T	c.(613-615)tcC>tcT	p.S205S	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAGGCATCCCTTCACGTAG	0.493000													34	138					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410025	159410025	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:159410025C>T	ENST00000423932.3	+	1	514	c.477C>T	c.(475-477)gcC>gcT	p.A159A	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	159					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCCTGGGGGCCTGCAGCATTG	0.502000													71	128					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471316	121471316	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:121471316C>T	ENST00000257570.5	-	2	699	c.429G>A	c.(427-429)agG>agA	p.R143R	OASL_ENST00000339275.5_Silent_p.R143R	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	143					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGCAGTCCCCCTGGTCTGGA	0.627000													17	84					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153791335	153791335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:153791335C>T	ENST00000368655.4	-	4	772	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	177	CR1.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTCGGGCTTCTTCCAATCGT	0.483000													37	91					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053555	142053555	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:142053555G>A	ENST00000306799.3	-	1	1061	c.408C>T	c.(406-408)ttC>ttT	p.F136F	RNF150_ENST00000507500.1_Silent_p.F136F|RNF150_ENST00000515673.1_Silent_p.F136F|RNF150_ENST00000420921.2_Intron	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	136	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CGTTCTGCAGGAACGCGTTCC	0.642000													12	12					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60854354	60854354	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:60854354G>A	ENST00000313733.3	+	7	835	c.633G>A	c.(631-633)gtG>gtA	p.V211V	OSBPL2_ENST00000439951.2_Silent_p.V119V|OSBPL2_ENST00000358053.2_Silent_p.V199V	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	211					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GCAAAAGCGTGGAGGCGGAGC	0.592000													45	53					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17424266	17424266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:17424266G>A	ENST00000302539.4	-	29	3720	c.3595C>T	c.(3595-3597)Cca>Tca	p.P1199S	ABCC8_ENST00000389817.3_Missense_Mutation_p.P1198S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1198	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GAGAGAAGTGGAAGCTGGGTG	0.602000													123	161					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193374900	193374900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:193374900C>T	ENST00000361510.2	+	23	2444	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F	OPA1_ENST00000361908.3_Missense_Mutation_p.S719F|OPA1_ENST00000361828.2_Missense_Mutation_p.S700F|OPA1_ENST00000392438.3_Missense_Mutation_p.S682F|OPA1_ENST00000361150.2_Missense_Mutation_p.S683F|OPA1_ENST00000361715.2_Missense_Mutation_p.S701F	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	682					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)		GAAGAATTTTCCCGCTTTATG	0.328000													10	31					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492517	74492517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:74492517G>A	ENST00000354431.4	-	8	2046	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	619										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTCCATTGGGAACTTTAAAG	0.289000													16	8					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931122	150931122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:150931122C>T	ENST00000309170.3	-	3	1295	c.983G>A	c.(982-984)gGa>gAa	p.G328E	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.G328E	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTGTATTTCCTCTTTTGAT	0.363000													41	51					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217817	134217817	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:134217817T>C	ENST00000359579.4	+	4	733	c.413T>C	c.(412-414)tTc>tCc	p.F138S	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	138					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AAAGCAACGTTCTTGGATGCC	0.458000													36	117					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639138	179639138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179639138C>T	ENST00000589042.1	-	30	7077	c.6853G>A	c.(6853-6855)Gaa>Aaa	p.E2285K	TTN_ENST00000342175.6_Missense_Mutation_p.E2239K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2239K|TTN_ENST00000342992.6_Missense_Mutation_p.E2285K|TTN_ENST00000360870.5_Missense_Mutation_p.E2285K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2239K|TTN_ENST00000591111.1_Missense_Mutation_p.E2285K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2009	Ig-like 12.						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)			CACTCTAATTCTCCTGAATAT	0.343000													22	45					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392041	117392041	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:117392041C>T	ENST00000321322.6	-	6	1198	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	DSCAML1_ENST00000527706.1_Silent_p.T129T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	339	Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGGGGAGCCCGTCAGGGCAC	0.632000													47	68					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857562	124857562	+	Silent	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:124857562A>G	ENST00000529051.1	+	8	1699	c.1440A>G	c.(1438-1440)ttA>ttG	p.L480L	CCDC15_ENST00000344762.5_Silent_p.L480L			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	480						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTTTTTATCTAGAGACC	0.408000													3	172					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111398779	111398779	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:111398779C>T	ENST00000428084.1	-	41	4502	c.4230G>A	c.(4228-4230)ccG>ccA	p.P1410P	DOCK4_ENST00000494651.2_Silent_p.P284P|DOCK4_ENST00000437633.1_Silent_p.P1401P			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1401	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGATGTTGTCCGGAACACCCT	0.438000													18	21					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102239	66102239	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:66102239C>T	ENST00000349533.6	+	20	3224	c.3039C>T	c.(3037-3039)ttC>ttT	p.F1013F	LEPR_ENST00000406510.3_Silent_p.F80F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1013					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCAAGTGCTTCTCTAGCAAAA	0.403000													14	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477040	179477040	+	Missense_Mutation	SNP	C	C	T	rs148018042	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179477040C>T	ENST00000589042.1	-	266	50436	c.50212G>A	c.(50212-50214)Gaa>Aaa	p.E16738K	TTN_ENST00000342175.6_Missense_Mutation_p.E7865K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7798K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14170K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7673K|TTN_ENST00000591111.1_Missense_Mutation_p.E15097K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15097	Ig-like 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E7865K(1)|p.E7673K(1)|p.E14170K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCAATTTCGGTGTAGTCG	0.453000													13	23					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453400	21453400	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:21453400G>A	ENST00000307378.6	-	9	1512	c.792C>T	c.(790-792)ttC>ttT	p.F264F	SLCO1A2_ENST00000537524.1_Silent_p.F132F|SLCO1A2_ENST00000452078.1_Silent_p.F264F|SLCO1A2_ENST00000390670.3_Silent_p.F262F|SLCO1A2_ENST00000458504.1_Silent_p.F132F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	264					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TGGGCAAAAAGAAAAAAGGAA	0.413000													8	15					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8948716	8948716	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:8948716C>T	ENST00000326053.5	-	4	436	c.330G>A	c.(328-330)gaG>gaA	p.E110E	C11orf16_ENST00000525780.1_Silent_p.E110E|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	110										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CCCCCTGTCTCTCCAGCTGTG	0.542000													17	18					0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31843357	31843357	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:31843357C>T	ENST00000343307.4	+	8	752	c.603C>T	c.(601-603)acC>acT	p.T201T	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	201					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTAGGCTTACCAAGAGACTAA	0.299000													40	42					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49087451	49087451	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:49087451C>T	ENST00000376265.2	-	4	443	c.381_splice	c.e4-1	p.E128_splice	CACNA1F_ENST00000376251.1_Splice_Site_p.E63_splice|CACNA1F_ENST00000323022.5_Splice_Site_p.E128_splice	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	128					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TCCACCTGCTCCTGGGGGTGG	0.637000													23	1					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156771	22156771	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22156771G>A	ENST00000397126.4	-	4	1213	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTAGTAAGGATTGAGAACT	0.393000													18	43					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031558	38031558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38031558C>T	ENST00000377940.3	+	6	833	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	ZPBP2_ENST00000348931.4_Missense_Mutation_p.H254Y|ZPBP2_ENST00000584588.1_Missense_Mutation_p.H181Y	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	254					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TATTTTCTACCATAACTTTAA	0.383000													26	25					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529366	57529366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:57529366G>A	ENST00000420713.1	+	4	1311	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TACCACAAGAGAACTCATACT	0.403000													37	19					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27278210	27278210	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:27278210C>T	ENST00000397501.1	+	9	1228	c.420C>T	c.(418-420)ttC>ttT	p.F140F	PTK2B_ENST00000338238.4_Silent_p.F140F|PTK2B_ENST00000346049.5_Silent_p.F140F|PTK2B_ENST00000517339.1_Silent_p.F140F|PTK2B_ENST00000544172.1_Silent_p.F140F|PTK2B_ENST00000420218.2_Silent_p.F140F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	140	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CAGAAGACTTCATGGAGAGCC	0.478000													56	130					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85590219	85590219	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:85590219G>A	ENST00000315658.7	+	4	388		c.e4-1		ELMOD3_ENST00000428955.2_Splice_Site|ELMOD3_ENST00000409890.2_Splice_Site|ELMOD3_ENST00000490508.1_Splice_Site|ELMOD3_ENST00000409344.3_Splice_Site|ELMOD3_ENST00000409013.3_Splice_Site|ELMOD3_ENST00000393852.4_Splice_Site	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3						phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TGCCTCTACAGATCTCAGAGT	0.507000													17	25					0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4475576	4475576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:4475576C>T	ENST00000301284.4	+	3	348	c.284C>T	c.(283-285)cCt>cTt	p.P95L	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.P95L	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		95					transcription, DNA-dependent	nucleus	DNA binding|protein binding										TACAGCGCCCCTCCGGTGAGT	0.582000													15	52					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9787362	9787362	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:9787362C>T	ENST00000383829.2	+	11	3578	c.3174C>T	c.(3172-3174)tcC>tcT	p.S1058S	BRPF1_ENST00000457855.1_Silent_p.S1052S|BRPF1_ENST00000433861.2_Silent_p.S957S|BRPF1_ENST00000424362.1_Silent_p.S1051S|BRPF1_ENST00000302054.3_Silent_p.S1052S	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1052	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGGCCTACTCCGTGGGCACTG	0.647000													59	63					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814835	106814835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:106814835G>A	ENST00000407775.2	+	8	2775	c.2525G>A	c.(2524-2526)cGg>cAg	p.R842Q	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R710Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R710Q|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R573Q	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	842					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGTCTGAGCGGACGACCACG	0.463000													4	5					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654981	161654981	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:161654981C>T	ENST00000426558.1	-	0	61					NR_002595.1																						TTCTTGCCACCCTTCTTTGCG	0.502000													8	11					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99218999	99218999	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:99218999C>G	ENST00000394152.2	+	5	718	c.391C>G	c.(391-393)Cca>Gca	p.P131A	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P131A|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.P131A|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		TTCTTAGGTTCCATGCCACAG	0.522000													50	116					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845761	176845761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:176845761C>T	ENST00000367654.2	-	21	3412	c.3399G>A	c.(3397-3399)tgG>tgA	p.W1133*	ASTN1_ENST00000424564.2_Nonsense_Mutation_p.W1125*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.W1125*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.W1125*			O14525	ASTN1_HUMAN	astrotactin 1	1133	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTCCACTCCCCACAGCGTGA	0.602000													20	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592888	179592888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179592888C>T	ENST00000589042.1	-	67	19887	c.19663G>A	c.(19663-19665)Gtg>Atg	p.V6555M	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5311M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V6238M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6238	Ig-like 47.						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)			ACATTTGACACTTTGCATGTG	0.378000													12	11					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863263	154863263	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:154863263C>T	ENST00000287907.2	+	1	1230	c.654C>T	c.(652-654)ttC>ttT	p.F218F	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	218						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)		TGGTGCTCTTCGTGTACTGGA	0.592000													50	30					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9808452	9808452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:9808452C>T	ENST00000226193.5	-	1	486	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	16					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						AGCTGCAGCTCCTCCAGGATC	0.622000													10	24					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369264	20369264	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:20369264G>A	ENST00000593655.1	-	0	199																											ACTACCCTATGGAAAATGGCA	0.378000													51	189					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779373	159779373	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:159779373C>T	ENST00000321935.6	+	6	893	c.807C>T	c.(805-807)ctC>ctT	p.L269L	FCRL6_ENST00000339348.5_Silent_p.L262L|FCRL6_ENST00000368106.3_Silent_p.L262L|FCRL6_ENST00000392235.3_Silent_p.L167L			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	262	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCTCCCTCCTCTTCCCAGTGA	0.557000													32	40					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11400711	11400711	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:11400711G>A	ENST00000227756.4	-	4	1107	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CCCTGGAGCGGATGAGGCCTT	0.582000													24	37					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26620782	26620782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:26620782G>A	ENST00000374222.1	-	9	937	c.473C>T	c.(472-474)cCc>cTc	p.P158L	UBXN11_ENST00000374221.3_Missense_Mutation_p.P158L|UBXN11_ENST00000436301.2_Missense_Mutation_p.P83L|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000357089.4_Missense_Mutation_p.P125L|UBXN11_ENST00000535108.1_5'UTR|UBXN11_ENST00000374217.2_Missense_Mutation_p.P125L			Q5T124	UBX11_HUMAN	UBX domain protein 11	158						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTGGTCCATGGGCTCGCCCAC	0.612000													56	79					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32014231	32014231	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:32014231G>T	ENST00000375244.3	-	31	10528	c.10327C>A	c.(10327-10329)Ccc>Acc	p.P3443T	TNXB_ENST00000375247.2_Missense_Mutation_p.P3441T			P22105	TENX_HUMAN	tenascin XB	3488	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCTCCAGGGGAGCTGTGCAG	0.632000													21	22					5.45024e-15	5.52222e-15	1	1	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609155	32609155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:32609155G>A	ENST00000343139.5	+	2	253	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.E51K|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.E51K	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	51	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTACACCCATGAATTTGATGG	0.532000													71	57					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870395	4870395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:4870395G>A	ENST00000322101.2	-	1	119	c.44C>T	c.(43-45)tCa>tTa	p.S15L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGGCCATTGAAGTGCTGCT	0.498000													68	103					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61877874	61877874	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:61877874T>G	ENST00000578681.1	+	7	1119	c.518T>G	c.(517-519)gTt>gGt	p.V173G	DDX42_ENST00000583590.1_Missense_Mutation_p.V173G|DDX42_ENST00000457800.2_Missense_Mutation_p.V173G|DDX42_ENST00000389924.2_Missense_Mutation_p.V173G|DDX42_ENST00000359353.5_Missense_Mutation_p.V54G	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	173					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCTGGTGTGGTTCAGGAGGAA	0.408000													55	75					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48801704	48801704	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:48801704A>T	ENST00000314191.2	-	34	4204	c.4148T>A	c.(4147-4149)tTc>tAc	p.F1383Y	PRKDC_ENST00000338368.3_Missense_Mutation_p.F1383Y|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1384					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCGATGTTGAAACCTATGCT	0.453000								Non-homologous end-joining					45	27					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644410	18644410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:18644410G>A	ENST00000433979.1	+	19	2704	c.2588G>A	c.(2587-2589)aGa>aAa	p.R863K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R904K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R863K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	863					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAATTGGCAGACTAGAAGAG	0.333000													38	56					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9784410	9784410	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:9784410T>G	ENST00000536656.1	+	22	3075	c.2867T>G	c.(2866-2868)tTc>tGc	p.F956C	PIK3CD_ENST00000377346.4_Missense_Mutation_p.F932C|PIK3CD_ENST00000361110.2_Missense_Mutation_p.F956C			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	932	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGTCCCATTCATCCTCACC	0.517000													105	225					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53758000	53758000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:53758000C>T	ENST00000288139.3	+	15	2252	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P692S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P692S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	692					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGACAATTTCCCTCAAGCACT	0.478000													40	51					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4645012	4645012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4645012G>A	ENST00000433935.1	+	3	785	c.728G>A	c.(727-729)tGg>tAg	p.W243*	ZMYND15_ENST00000269289.6_Nonsense_Mutation_p.W243*|ZMYND15_ENST00000592813.1_Nonsense_Mutation_p.W243*|ZMYND15_ENST00000573751.2_Nonsense_Mutation_p.W243*	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	243							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTGGCTCCTTGGGCCTATGCT	0.622000													37	65					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104157369	104157369	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:104157369C>T	ENST00000369966.3	+	8	838	c.588C>T	c.(586-588)gcC>gcT	p.A196A	NFKB2_ENST00000189444.6_Silent_p.A196A|NFKB2_ENST00000428099.1_Silent_p.A196A	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	196	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GCTTCTCTGCCTTCCTTAGAG	0.582000			T	IGH@	B-NHL								128	248					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110739	55110739	+	Silent	SNP	G	G	A	rs78513473		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55110739G>A	ENST00000314721.2	+	1	113	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACAT	0.413000													19	28					0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70238062	70238062	+	Missense_Mutation	SNP	G	G	A	rs142745234		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:70238062G>A	ENST00000553521.1	+	9	2156	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	SRSF5_ENST00000394366.2_Missense_Mutation_p.V235M|SRSF5_ENST00000557154.1_Missense_Mutation_p.V235M|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553635.1_Missense_Mutation_p.V232M			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	235	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						TAGGTCTCCCGTGCCTGAGAA	0.562000													70	161					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026359	27026359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:27026359G>A	ENST00000354760.3	+	6	534	c.499G>A	c.(499-501)Gat>Aat	p.D167N	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	167	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTGGAATGCGATCACCATTC	0.547000													21	33					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47454229	47454229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:47454229C>T	ENST00000265562.4	+	25	4542	c.4465C>T	c.(4465-4467)Ctc>Ttc	p.L1489F	PTPN23_ENST00000431726.1_Missense_Mutation_p.L1363F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1489					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACCTGGTCCTCGGTGGGGA	0.627000													108	119					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366208	40366208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40366208C>T	ENST00000221347.6	-	30	14033	c.14026G>A	c.(14026-14028)Ggc>Agc	p.G4676S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4676	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGCGGGCCGTCGGTGGCG	0.706000													34	99					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584283	82584283	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:82584283A>G	ENST00000423517.2	-	5	6323	c.5986T>C	c.(5986-5988)Tca>Cca	p.S1996P	PCLO_ENST00000333891.8_Missense_Mutation_p.S1996P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1927					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTGTTCTGAAAGTCTTATC	0.383000													53	48					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150923080	150923080	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:150923080A>G	ENST00000271640.5	+	13	1917	c.1727A>G	c.(1726-1728)cAt>cGt	p.H576R	SETDB1_ENST00000368969.4_Missense_Mutation_p.H576R|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACTTACCTCATGTCTGCAGC	0.582000													52	117					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913867	32913867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:32913867C>T	ENST00000544455.1	+	11	5602	c.5375C>T	c.(5374-5376)tCc>tTc	p.S1792F	BRCA2_ENST00000380152.3_Missense_Mutation_p.S1792F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1792					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTAATATCCAATGTAAAA	0.328000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			29	39					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113353703	113353703	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:113353703G>A	ENST00000458497.1	+	11	3279	c.3000G>A	c.(2998-3000)ggG>ggA	p.G1000G	ALPK1_ENST00000177648.9_Silent_p.G1000G|ALPK1_ENST00000504176.2_Silent_p.G922G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1000							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGAATACGGGGGTTTTTAAGC	0.488000													83	59					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116988073	116988073	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:116988073A>C	ENST00000368576.3	-	2	526	c.283T>G	c.(283-285)Tgt>Ggt	p.C95G	ZUFSP_ENST00000368573.1_Missense_Mutation_p.C95G|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	95						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTAGATGCACAACCTGAAAGA	0.333000													22	64					0	0	1	0	0
MIR320A	407037	broad.mit.edu	37	8	22102540	22102540	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:22102540G>A	ENST00000385302.1	-	0	16					NR_029714.1																						GGAAGAGAAGGCGGAGGGGAG	0.657000													31	85					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3182248	3182248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:3182248C>T	ENST00000355072.5	+	36	4764	c.4619C>T	c.(4618-4620)cCg>cTg	p.P1540L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1540					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACAGCCATACCGGCTCTGCAG	0.423000													31	66					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94527378	94527378	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:94527378G>A	ENST00000330836.5	-	4	1409	c.1278C>T	c.(1276-1278)tcC>tcT	p.S426S	DDX24_ENST00000544005.1_Silent_p.S176S|DDX24_ENST00000555054.1_Silent_p.S383S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	426	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GTTTCTGCGTGGACATTCCAC	0.423000													90	22					0	0	1	0	0
NDUFS6	4726	broad.mit.edu	37	5	1816024	1816024	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:1816024C>G	ENST00000274137.5	+	4	387	c.369C>G	c.(367-369)caC>caG	p.H123Q		NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	123					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	GACAGCACCACCACTAGAGCG	0.522000													9	248					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117644	11117644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:11117644C>T	ENST00000304623.8	-	13	2384	c.2195G>A	c.(2194-2196)aGg>aAg	p.R732K	CTNND2_ENST00000359640.2_Missense_Mutation_p.R732K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R641K|CTNND2_ENST00000503622.1_Missense_Mutation_p.R395K|CTNND2_ENST00000458100.2_Missense_Mutation_p.R299K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	732					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCTCTCATCCTTCTGCGGGC	0.532000													56	85					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61559941	61559941	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:61559941G>A	ENST00000290866.4	+	8	1257	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ACE_ENST00000538928.1_Silent_p.G411G|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.G411G	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	411	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGCGTCGGGGGGCCAACCCCG	0.607000													127	148					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113841986	113841986	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:113841986C>T	ENST00000297405.5	-	12	2032	c.1788G>A	c.(1786-1788)ctG>ctA	p.L596L	CSMD3_ENST00000352409.3_Silent_p.L596L|CSMD3_ENST00000343508.3_Silent_p.L556L|CSMD3_ENST00000455883.2_Silent_p.L492L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	596	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCCAATCTCCAGATCAAATT	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	33					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302799	163302799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:163302799G>A	ENST00000332142.5	-	7	1382	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	KCNH7_ENST00000328032.4_Missense_Mutation_p.S421F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	428					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GAAGGCTGCAGAGTAGGGAGT	0.428000													23	31					0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46685477	46685477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:46685477G>A	ENST00000349485.5	-	9	1236	c.1210C>T	c.(1210-1212)Ccc>Tcc	p.P404S	POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	404					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GTCGTCTTGGGGTCCAACCCC	0.517000													34	75					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17898033	17898033	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:17898033C>G	ENST00000448223.2	-	14	1590	c.1321G>C	c.(1321-1323)Gac>Cac	p.D441H	SMC6_ENST00000381272.4_Missense_Mutation_p.D467H|SMC6_ENST00000402989.1_Missense_Mutation_p.D441H|SMC6_ENST00000351948.4_Missense_Mutation_p.D441H	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	441					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTCTTTGTCCTTTTCTATG	0.299000													15	67					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4927261	4927261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4927261G>A	ENST00000320785.5	+	23	3484	c.3127G>A	c.(3127-3129)Gcg>Acg	p.A1043T		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1043	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATCCCGGGGAGCGGGTTCTGC	0.692000													29	52					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721205	160721205	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:160721205C>T	ENST00000274547.2	-	11	1639	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	GABRB2_ENST00000520240.1_Silent_p.L436L|GABRB2_ENST00000517901.1_Silent_p.L373L|GABRB2_ENST00000393959.1_Silent_p.L474L|GABRB2_ENST00000353437.6_Silent_p.L436L|GABRB2_ENST00000517547.1_Silent_p.L276L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	474					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGTGATTTTCAGTTGGGAGG	0.502000													38	7					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815211	147815211	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:147815211G>A	ENST00000361727.3	+	16	2901	c.2383_splice	c.e16-1	p.R795_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	795	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCCCACAGGGAATTATTGGA	0.418000										HNSCC(39;0.1)			36	85					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542902	55542902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:55542902G>A	ENST00000220676.1	+	4	6608	c.6460G>A	c.(6460-6462)Gaa>Aaa	p.E2154K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2154					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E2154K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGAGAACAAGAAGATTTATA	0.313000													14	15					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66258746	66258746	+	Silent	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:66258746G>T	ENST00000532677.1	+	7	1148	c.747G>T	c.(745-747)gtG>gtT	p.V249V	DPP3_ENST00000360510.2_Silent_p.V230V|DPP3_ENST00000531863.1_Silent_p.V250V|DPP3_ENST00000453114.1_Silent_p.V230V|DPP3_ENST00000530165.1_Silent_p.V200V|DPP3_ENST00000541961.1_Silent_p.V230V	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	230					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACTCTGAGGTGACTTCCAAGC	0.557000											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	106	113					1.6696e-61	1.72529e-61	1	1	0
TXLNB	167838	broad.mit.edu	37	6	139591700	139591700	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:139591700G>T	ENST00000358430.3	-	4	812	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	194						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTTCTTTTTGAATTTGTACC	0.438000													34	17					2.09667e-21	2.1378e-21	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74506959	74506959	+	Silent	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:74506959A>G	ENST00000354431.4	-	7	1847	c.1656T>C	c.(1654-1656)gtT>gtC	p.V552V	LRRIQ3_ENST00000395089.1_Silent_p.V552V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	552										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTTTTTGCTTAACAATCAGGC	0.313000													6	23					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598157	28598157	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:28598157C>T	ENST00000434452.1	-	9	1297	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	DSC3_ENST00000360428.4_Silent_p.K381K	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	381	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAATTAAATCCTTATCTTCTA	0.303000													12	38					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156447389	156447389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:156447389G>A	ENST00000392741.2	+	3	482	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	RNF32_ENST00000317955.5_Missense_Mutation_p.E132K|RNF32_ENST00000343665.4_Missense_Mutation_p.E132K|RNF32_ENST00000432459.2_Missense_Mutation_p.E132K|RNF32_ENST00000405335.1_Missense_Mutation_p.E132K|RNF32_ENST00000311822.8_Missense_Mutation_p.E132K|RNF32_ENST00000392743.2_Missense_Mutation_p.E132K|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	132						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CATCTGTAAAGAAGAATTCGA	0.557000													52	57					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363477	22363477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22363477G>A	ENST00000397121.2	-	3	1359	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTGAGGATCGATTAAAAGCT	0.413000													4	87					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488688	25488688	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:25488688C>T	ENST00000453082.2	+	0	2316					NR_003343.1																						ACACCCTGGTCTCCTGCACTA	0.592000													51	69					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215953204	215953204	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:215953204C>T	ENST00000366943.2	-	55	11306	c.10920G>A	c.(10918-10920)agG>agA	p.R3640R	USH2A_ENST00000307340.3_Silent_p.R3640R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3640	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R3640S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATGCTGTCTCCTGTCAGTGG	0.493000										HNSCC(13;0.011)			19	46					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182408	57182408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:57182408C>T	ENST00000504228.1	+	6	2845	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P907S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P914S			Q6ZU35	K1211_HUMAN	KIAA1211	914										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAAGCAAGCCCCTTCCACCCG	0.687000													33	27					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908545	48908545	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:48908545C>T	ENST00000263269.3	+	3	1108	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	340						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ATTATGGTTTCCTTCCTGAGC	0.682000													21	21					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	597478	597478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:597478C>T	ENST00000219611.2	+	4	1003	c.640C>T	c.(640-642)Cca>Tca	p.P214S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GGCCAACCCCCCAGCCACCAG	0.746000													23	4					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431695	135431695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:135431695G>A	ENST00000394143.1	+	6	6121	c.5830G>A	c.(5830-5832)Gga>Aga	p.G1944R	GPR112_ENST00000412101.1_Missense_Mutation_p.G1739R|GPR112_ENST00000370652.1_Missense_Mutation_p.G1944R|GPR112_ENST00000394141.1_Missense_Mutation_p.G1739R|GPR112_ENST00000287534.4_Missense_Mutation_p.G1881R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1944					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCTATGTCAGGAATTCTTCC	0.423000													44	4					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20702391	20702391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:20702391C>T	ENST00000307493.4	-	1	187	c.120G>A	c.(118-120)tgG>tgA	p.W40*	ACSM1_ENST00000520010.1_Nonsense_Mutation_p.W40*|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	40					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATAGTCATTCCATCTTGGGG	0.498000													101	15					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74632090	74632090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:74632090G>A	ENST00000358632.4	-	6	1216	c.521C>T	c.(520-522)tCc>tTc	p.S174F	CYP11A1_ENST00000268053.6_Missense_Mutation_p.S332F|CYP11A1_ENST00000419019.2_Missense_Mutation_p.S174F|CYP11A1_ENST00000541301.1_3'UTR	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	332					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CAGGGTCATGGACGTCTGGTG	0.582000													44	74					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7295773	7295773	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:7295773C>T	ENST00000537408.1	+	11	2287	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P	CLSTN3_ENST00000266546.6_Silent_p.P571P			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	571					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACGTGAACCCCTCACAGTCCC	0.622000													102	146					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16068475	16068475	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:16068475C>T	ENST00000268712.3	-	5	693	c.435_splice	c.e5-1	p.D146_splice	NCOR1_ENST00000395851.1_Splice_Site_p.D146_splice|NCOR1_ENST00000395848.1_Splice_Site_p.D37_splice	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	146	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.D146Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATGCTGGATCCTTTAGAGAA	0.393000													17	119					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72030778	72030778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:72030778G>A	ENST00000378743.3	-	8	2145	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	596	Pro-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						TGGTAGAGGAGGTAGAGGTTC	0.438000													56	613					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215368394	215368394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:215368394G>A	ENST00000444842.2	+	6	1072	c.922G>A	c.(922-924)Gga>Aga	p.G308R	KCNK2_ENST00000391894.2_Missense_Mutation_p.G293R|KCNK2_ENST00000391895.2_Missense_Mutation_p.G304R	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	308							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAGCATGATTGGAGATTGGCT	0.383000													90	153					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220427190	220427190	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:220427190C>G	ENST00000404537.1	-	8	2943	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	OBSL1_ENST00000265318.4_Missense_Mutation_p.E963Q|OBSL1_ENST00000289656.3_Missense_Mutation_p.E550Q|OBSL1_ENST00000603926.1_Missense_Mutation_p.E963Q|OBSL1_ENST00000373876.1_Missense_Mutation_p.E963Q|OBSL1_ENST00000373873.4_Missense_Mutation_p.E963Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	963	Ig-like 7.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGGAGTCCTCGAGCTGGACA	0.647000													29	151					0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661546	3661546	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:3661546G>T	ENST00000397068.3	-	2	505	c.113C>A	c.(112-114)aCc>aAc	p.T38N	ART5_ENST00000397067.3_Missense_Mutation_p.T38N|ART5_ENST00000359918.4_Missense_Mutation_p.T38N	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	38						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCACATAGGTATCGTCAAA	0.597000													42	65					1.52319e-26	1.55504e-26	1	1	0
CWH43	80157	broad.mit.edu	37	4	49005925	49005925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:49005925G>A	ENST00000226432.4	+	7	1159	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	CWH43_ENST00000513409.1_Missense_Mutation_p.E299K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	326					GPI anchor biosynthetic process	integral to membrane		p.E326K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTATCTTCTAGAAATATTTTT	0.423000													22	32					0	0	1	0	0
GOLGA6L2	283685	broad.mit.edu	37	15	23689122	23689122	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:23689122C>T	ENST00000567107.1	-	5	445	c.393G>A	c.(391-393)ggG>ggA	p.G131G	GOLGA6L2_ENST00000345070.5_5'UTR|GOLGA6L2_ENST00000312015.5_Silent_p.G131G					golgin A6 family-like 2											breast(1)|endometrium(7)	8						TGCCCAGGTTCCCATCTTCAA	0.512000													6	5					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147175	52147175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52147175C>T	ENST00000360844.6	-	5	910	c.869G>A	c.(868-870)gGa>gAa	p.G290E	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	290	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGGCTTTTCCCTCCCGGAA	0.597000													45	65					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29628691	29628691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:29628691G>A	ENST00000434693.2	+	4	1091	c.391G>A	c.(391-393)Gct>Act	p.A131T	RBMS3_ENST00000445033.1_Missense_Mutation_p.A132T|RBMS3_ENST00000452462.1_Missense_Mutation_p.A132T|RBMS3_ENST00000273139.9_Missense_Mutation_p.A132T|RBMS3_ENST00000396583.3_Missense_Mutation_p.A132T|RBMS3_ENST00000383767.2_Missense_Mutation_p.A132T|RBMS3_ENST00000456853.1_Missense_Mutation_p.A132T|RBMS3_ENST00000383766.2_Missense_Mutation_p.A131T	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	132	RRM 1.					cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GGCACAGATGGCTAAGGTAAG	0.423000													31	45					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78293183	78293183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:78293183C>T	ENST00000319921.4	+	17	3236	c.3095C>T	c.(3094-3096)gCt>gTt	p.A1032V	RNF213_ENST00000508628.2_Intron|RNF213_ENST00000582970.1_Intron|RNF213_ENST00000456466.1_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCTAAGGGCTATGAAGCAC	0.572000													77	106					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367099	32367099	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:32367099G>C	ENST00000298386.2	+	16	1731	c.1660G>C	c.(1660-1662)Gta>Cta	p.V554L	RXFP2_ENST00000380314.1_Missense_Mutation_p.V530L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	554						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTTAATAGCTGTAATTCCATT	0.388000													23	41					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119065134	119065134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:119065134G>A	ENST00000328252.3	+	10	3421	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.G56R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1018					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACGCCCCAGGGATTCCTGGA	0.517000													53	14					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768340	57768340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:57768340G>A	ENST00000371030.2	+	1	2266	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	756						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGAGGCTGGAACTGGGGTG	0.642000													8	27					0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96034881	96034881	+	Missense_Mutation	SNP	A	A	G	rs148967607	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:96034881A>G	ENST00000369293.1	+	2	700	c.566A>G	c.(565-567)tAt>tGt	p.Y189C	MANEA_ENST00000358812.4_Intron			Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	0	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		atatatatatatgtgtgtttg	0.299000													3	28					0	0	1	0	0
DUS4L	11062	broad.mit.edu	37	7	107217950	107217950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:107217950C>T	ENST00000265720.3	+	8	1261	c.899C>T	c.(898-900)gCt>gTt	p.A300V	DUS4L_ENST00000402620.1_Missense_Mutation_p.A179V	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	300					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						GTATTTAATGCTCTGTCAAGC	0.353000													31	71					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250815	142250815	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142250815C>T	ENST00000390360.3	-	0	252																											TCAGGGACTTCTCCTTTGCCA	0.473000													20	42					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183563	197183563	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:197183563C>A	ENST00000260983.2	-	9	2233	c.2051G>T	c.(2050-2052)tGt>tTt	p.C684F	HECW2_ENST00000409111.1_Missense_Mutation_p.C328F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	684					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.C684S(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCTGCTGCACAGGCTCCGTC	0.602000													35	45					5.71845e-15	5.79034e-15	1	1	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E170K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000													185	208					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78885442	78885442	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:78885442A>T	ENST00000299565.5	+	6	1454	c.1254A>T	c.(1252-1254)gaA>gaT	p.E418D	CHRNA3_ENST00000348639.3_3'UTR|CHRNA5_ENST00000559554.1_Missense_Mutation_p.K156M	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	418					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						AGGTTGTTGAAGATTGGAAAT	0.318000													56	76					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632510	179632510	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179632510G>A	ENST00000589042.1	-	40	9671	c.9447C>T	c.(9445-9447)atC>atT	p.I3149I	TTN_ENST00000342175.6_Silent_p.I3103I|TTN_ENST00000359218.5_Silent_p.I3103I|TTN_ENST00000342992.6_Silent_p.I3149I|TTN_ENST00000360870.5_Silent_p.I3149I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I3103I|TTN_ENST00000591111.1_Silent_p.I3149I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2884							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)			TAATACTTCGGATGCGAACAT	0.403000													88	112					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183479380	183479380	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:183479380G>T	ENST00000305135.5	+	14	1937	c.1742G>T	c.(1741-1743)gGa>gTa	p.G581V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	581					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTATAACAGGAGGACTTGGA	0.438000													76	65					8.6838e-40	8.91625e-40	1	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21542540	21542540	+	Silent	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:21542540T>G	ENST00000298694.4	+	3	778	c.651T>G	c.(649-651)ctT>ctG	p.L217L	ARHGEF40_ENST00000298693.3_Silent_p.L217L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	217					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCCCTCCACTTCCTGAGGAGG	0.612000													15	30					0	0	1	0	0
MANF	7873	broad.mit.edu	37	3	51426377	51426377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:51426377C>T	ENST00000528157.1	+	4	702	c.406C>T	c.(406-408)Cga>Tga	p.R136*	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	136					response to unfolded protein	extracellular region	growth factor activity			lung(1)|ovary(1)	2						GAAGAAGCTCCGAGTTAAAGA	0.527000											OREG0015594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688735	65688735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:65688735G>A	ENST00000335257.6	+	9	1077	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.A244T|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	244					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CACTCAGGAAGCCACCAACAA	0.468000													73	110					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172644339	172644339	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:172644339G>A	ENST00000422440.2	-	16	1741	c.1704C>T	c.(1702-1704)ctC>ctT	p.L568L	SLC25A12_ENST00000392592.4_Silent_p.L461L	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	568					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CTTCTTCCCGGAGAATCTTCC	0.582000													39	67					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31940123G>A	ENST00000375331.2	+	2	431	c.265G>A	c.(265-267)Gac>Aac	p.D89N	STK19_ENST00000375333.2_Missense_Mutation_p.D89N	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(4)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000													51	177					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39086356	39086356	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:39086356C>T	ENST00000591517.1	-	28	2221	c.2193G>A	c.(2191-2193)ctG>ctA	p.L731L	MAP4K1_ENST00000396857.2_Silent_p.L731L|MAP4K1_ENST00000589130.1_Silent_p.L727L|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	731	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGGGTCACCAGCTTCACAG	0.572000													24	27					0	0	1	0	0
CLNS1A	1207	broad.mit.edu	37	11	77330736	77330736	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:77330736C>T	ENST00000525428.1	-	6	741	c.651G>A	c.(649-651)ggG>ggA	p.G217G	CLNS1A_ENST00000525064.1_Silent_p.G159G|CLNS1A_ENST00000528364.1_Silent_p.G217G|CLNS1A_ENST00000532069.1_Silent_p.G147G|CLNS1A_ENST00000263309.3_Silent_p.G183G	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	217					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CCACCTCCATCCCATCTAAAC	0.388000													52	56					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302456	6302456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:6302456C>T	ENST00000344683.5	+	8	1289	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	MCPH1_ENST00000522905.1_Missense_Mutation_p.L357F|MCPH1_ENST00000519480.1_Missense_Mutation_p.L405F	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	405						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCTGGAGGCTCTTAGCTGTGG	0.512000													52	31					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69718851	69718851	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:69718851C>T	ENST00000349945.1	+	12	3022	c.1470C>T	c.(1468-1470)tgC>tgT	p.C490C	NFAT5_ENST00000354436.2_Silent_p.C566C|NFAT5_ENST00000567239.1_Silent_p.C583C|NFAT5_ENST00000566899.1_Silent_p.C490C|NFAT5_ENST00000393742.2_Silent_p.C490C|NFAT5_ENST00000432919.1_Silent_p.C584C	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	566					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAAGACCTTGCTCTTTTGAAG	0.343000													54	14					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043008	25043008	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:25043008G>A	ENST00000216336.2	-	5	639	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	201	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GGGGGCCTCCGGAATCCCCCT	0.607000													25	71					0	0	1	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805693	20805693	+	RNA	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:20805693T>C	ENST00000577537.1	+	0	877				RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA																							GGCGCCGGCTTCACCCTCGGC	0.557000													6	43					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139175232	139175232	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:139175232A>G	ENST00000423192.1	+	9	1300	c.1139A>G	c.(1138-1140)tAt>tGt	p.Y380C	ECT2L_ENST00000541398.1_Missense_Mutation_p.Y311C|ECT2L_ENST00000367682.2_Missense_Mutation_p.Y380C|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	380					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						TTAGGAAGCTATGTGGCCACT	0.433000			"""N, Splice, Mis"""		ETP ALL								82	210					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987384	22987384	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:22987384C>T	ENST00000509305.1	+	3	607	c.261C>T	c.(259-261)gtC>gtT	p.V87V	C1QB_ENST00000314933.6_Silent_p.V89V			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	89	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAAAAGTCGGCCCCAAGG	0.617000													17	15					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120355	94120355	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:94120355C>T	ENST00000369303.4	-	3	880	c.696G>A	c.(694-696)ggG>ggA	p.G232G	EPHA7_ENST00000369297.1_Silent_p.G232G	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	232	Cys-rich.		G -> R (in a metastatic melanoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGACACATGTCCCTCGAACCT	0.463000													18	39					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113380144	113380144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:113380144G>A	ENST00000316407.4	-	7	795	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	KIAA2018_ENST00000478658.1_Missense_Mutation_p.L129F|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	129					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGTTTTTAAGATTTCCTTTC	0.368000													28	62					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738948	138738948	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:138738948A>C	ENST00000329447.5	-	1	820	c.556T>G	c.(556-558)Ttc>Gtc	p.F186V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	186										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGGGGATGAACATACTTCTA	0.632000													3	114					0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36987004	36987004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:36987004G>A	ENST00000518149.1	-	3	1200	c.595C>T	c.(595-597)Cac>Tac	p.H199Y	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.H199Y|NKX2-1_ENST00000354822.5_Missense_Mutation_p.H229Y|NKX2-1_ENST00000522719.2_Missense_Mutation_p.H199Y			P43699	NKX21_HUMAN	NK2 homeobox 1	199					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GGCGTCAGGTGGATCATGCTG	0.622000			A		NSCLC								25	13					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225692710	225692710	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:225692710G>A	ENST00000366844.2	-	12	2035	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	ENAH_ENST00000284563.6_Intron|ENAH_ENST00000366843.2_Intron	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	528	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ATGAATCATAGGACCTGTTGT	0.368000													36	37					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50285961	50285961	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:50285961C>T	ENST00000354293.5	+	4	619	c.453C>T	c.(451-453)atC>atT	p.I151I	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000359032.5_Silent_p.I151I	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	151					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCGCTGACATCCCCCGCATCC	0.672000													26	22					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078922	133078922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:133078922G>A	ENST00000326499.6	-	1	225	c.101C>T	c.(100-102)gCt>gTt	p.A34V	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.A34V|VNN2_ENST00000525270.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	34	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.A34V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CAAAATGACAGCATGTTCATA	0.428000													25	78					0	0	1	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217100	53217100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:53217100C>T	ENST00000342657.3	+	7	1546	c.473C>T	c.(472-474)tCc>tTc	p.S158F	HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.S158F|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.S158F	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	158	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						GACCATGACTCCGTGGATAAG	0.433000													40	66					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564117	176564117	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:176564117C>T	ENST00000367662.3	+	3	2541	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	PAPPA2_ENST00000367661.3_Silent_p.S459S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	459	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGACAGCGAGCTTTGAGCCTG	0.537000													78	69					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125460023	125460023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:125460023G>A	ENST00000308736.2	-	6	1020	c.922C>T	c.(922-924)Cga>Tga	p.R308*	DHX37_ENST00000544745.1_Nonsense_Mutation_p.R95*	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	308	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCGGCCACTCGGCGGGGCTCC	0.632000													64	142					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7678084	7678084	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:7678084G>A	ENST00000572933.1	+	29	5969	c.4509G>A	c.(4507-4509)ctG>ctA	p.L1503L	DNAH2_ENST00000389173.2_Silent_p.L1503L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1503	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGGCCTCCTGGACACATTGA	0.448000													34	23					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004786	42004786	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:42004786G>A	ENST00000395925.3	-	15	3969	c.3885C>T	c.(3883-3885)ttC>ttT	p.F1295F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1295					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCGGCAGGCCGAAATTCAGCT	0.632000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				53	47					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599564	136599564	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:136599564T>C	ENST00000531224.1	-	4	707	c.455A>G	c.(454-456)aAa>aGa	p.K152R	BCLAF1_ENST00000527759.1_Missense_Mutation_p.K150R|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K152R|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K152R|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K150R|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K150R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	152					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACAGGAGATTTGCTATATGG	0.438000													37	70					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925439	70925439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:70925439G>A	ENST00000603540.1	+	2	1481	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ADAM21_ENST00000267499.3_Missense_Mutation_p.R408H|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	408	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATGCTAAAGCGCTGTGGGAAT	0.458000													25	90					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518896	129518896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:129518896G>A	ENST00000276218.2	-	1	615	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	176						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGCATGGCTGGGAAGAAGCCA	0.527000													55	4					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136665000	136665000	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:136665000T>G	ENST00000469404.1	+	2	701	c.610T>G	c.(610-612)Tac>Gac	p.Y204D	NCK1_ENST00000481752.1_Missense_Mutation_p.Y268D|NCK1_ENST00000288986.2_Missense_Mutation_p.Y268D	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	268	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						ACAGTGTGATTACATTAGGCC	0.408000													8	142					0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108700206	108700206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:108700206C>T	ENST00000565488.1	-	5	766	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	SLC25A24_ENST00000370041.4_Missense_Mutation_p.E164K	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	183					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TCCGTGAATTCATCTGGAATA	0.438000													85	53					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375791	175375791	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:175375791G>A	ENST00000367674.1	-	3	768	c.60C>T	c.(58-60)atC>atT	p.I20I	TNR_ENST00000263525.2_Silent_p.I20I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	20					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I20I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCCAGAAGGATCAGGTTGA	0.552000													91	168					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146214476	146214476	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:146214476G>A	ENST00000367503.3	-	28	5159	c.4761C>T	c.(4759-4761)ccC>ccT	p.P1587P	SHPRH_ENST00000367505.2_Silent_p.P1583P|SHPRH_ENST00000275233.7_Silent_p.P1583P|SHPRH_ENST00000438092.2_Silent_p.P1587P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1583	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTGTGCAGGGGCAGCAGCA	0.403000													3	15					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123718	135123718	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:135123718C>T	ENST00000359035.3	+	4	483	c.480C>T	c.(478-480)gaC>gaT	p.D160D	ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Silent_p.D160D|ZNF511_ENST00000368554.4_Silent_p.D95D			Q8NB15	ZN511_HUMAN	zinc finger protein 511	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CCAGCAGAGACCGGAAGGATC	0.572000													96	82					0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4290474	4290474	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:4290474C>T	ENST00000543264.2	+	6	2330	c.867C>T	c.(865-867)ttC>ttT	p.F289F	SHD_ENST00000599689.1_Silent_p.F249F	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	289	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGAAGTTCGCGCGGACCC	0.657000													101	150					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	284360	284360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:284360G>A	ENST00000534750.1	+	6	2534	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	NLRP6_ENST00000312165.5_Missense_Mutation_p.E778K	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	778						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TATGCTGAGTGAGGGCCTAGC	0.692000													51	69					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87342598	87342598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:87342598C>T	ENST00000304053.6	+	9	1366	c.883C>T	c.(883-885)Cca>Tca	p.P295S	NTRK2_ENST00000395866.2_Missense_Mutation_p.P139S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P295S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P295S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P295S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P295S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P295S|NTRK2_ENST00000395882.1_Missense_Mutation_p.P295S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P295S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	295	Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TCTCGAATCTCCAACCTCAGA	0.443000										TSP Lung(25;0.17)			38	12					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151336913	151336913	+	Silent	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:151336913G>T	ENST00000370314.4	-	10	1504	c.1266C>A	c.(1264-1266)ccC>ccA	p.P422P	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Silent_p.P422P|GABRA3_ENST00000535043.1_Silent_p.P422P	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	422					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGAGGCACTGGGAGCAGCGC	0.542000													13	167					3.41278e-10	3.44918e-10	1	1	0
EMB	133418	broad.mit.edu	37	5	49699045	49699045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:49699045C>T	ENST00000303221.5	-	6	1059	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	EMB_ENST00000514111.1_Missense_Mutation_p.E232K|EMB_ENST00000508934.1_Missense_Mutation_p.E228K	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	282						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTGTACTTTTCACAAAGCAGA	0.348000													11	18					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570315	248570315	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248570315C>T	ENST00000366474.1	+	1	1020	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			CCCTCATCTACAGCCTTAGAA	0.517000													99	82					0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509204	22509204	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:22509204G>A	ENST00000390448.3	+	0	211																											CAGTTACACAGTCAGCGGTTT	0.522000													15	30					0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524113	73524113	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:73524113G>A	ENST00000339534.2	+	1	89	c.12G>A	c.(10-12)aaG>aaA	p.K4K		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	4							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TGAGCAGTAAGGATTTCTTCG	0.612000													10	1					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996503	19996503	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:19996503G>A	ENST00000391403.2	-	1	1375	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	424						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTTTCTCATGGAGAATAATCT	0.368000													36	31					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61865687	61865687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:61865687C>T	ENST00000280772.1	-	28	3495	c.3304G>A	c.(3304-3306)Gag>Aag	p.E1102K	ANK3_ENST00000373827.2_Missense_Mutation_p.E1096K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1103K|ANK3_ENST00000355288.2_Missense_Mutation_p.E236K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1102					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAGTAACTCGGTTAAATCT	0.383000													32	24					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821894	72821894	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:72821894G>A	ENST00000268489.5	-	10	10953	c.10281C>T	c.(10279-10281)acC>acT	p.T3427T	ZFHX3_ENST00000397992.5_Silent_p.T2513T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3427					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTCACGGGGGGTGTTTTTCT	0.577000													114	16					0	0	1	0	0
LOC653712	653712	broad.mit.edu	37	3	128580685	128580685	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:128580685G>A	ENST00000498297.1	-	0	768				RP11-723O4.2_ENST00000480931.1_RNA	NR_034179.1																						TGCTGGCTTTGATGTTGAGGT	0.572000													36	19					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108822756	108822756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:108822756C>T	ENST00000232603.5	-	4	245	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	MORC1_ENST00000483760.1_Missense_Mutation_p.E55K|MORC1-AS1_ENST00000480826.1_RNA	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	55					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCAGTTTTTCATTATCCACT	0.383000													24	86					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99057785	99057785	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:99057785G>A	ENST00000555673.1	-	2	67	c.45C>T	c.(43-45)gtC>gtT	p.V15V	ATP5J2_ENST00000449683.1_Silent_p.V25V|ATP5J2_ENST00000394186.3_Silent_p.V15V|ATP5J2_ENST00000359832.4_Silent_p.V21V|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000544611.1_Silent_p.V15V|ATP5J2_ENST00000488775.1_Silent_p.V15V|ATP5J2_ENST00000292475.3_Silent_p.V21V|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.V15V	NM_001198879.1	NP_001185808.1			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCCAGTTTGACCTCCAGAA	0.473000													103	219					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512841	101512841	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:101512841G>A	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							TGCTCATGTCGAATCGTACAG	0.483000													58	10					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37425444	37425444	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:37425444C>T	ENST00000397225.2	+	3	1698	c.783C>T	c.(781-783)gcC>gcT	p.A261A	MPST_ENST00000404802.3_Silent_p.A261A|MPST_ENST00000429360.2_Silent_p.A261A|MPST_ENST00000401419.3_Silent_p.A261A|MPST_ENST00000397129.1_Silent_p.A281A|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000341116.3_Silent_p.A261A			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	261	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CACTAGGGGCCTACCTCTGCG	0.637000													24	20					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25442804	25442804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:25442804C>T	ENST00000255324.5	+	31	4280	c.4228C>T	c.(4228-4230)Cca>Tca	p.P1410S	RNF17_ENST00000339524.3_Missense_Mutation_p.P420S|RNF17_ENST00000381921.1_Missense_Mutation_p.P1368S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1410					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTGCCTTCCCCAGGAGAACT	0.373000													80	118					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425666	77425666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:77425666G>A	ENST00000560626.2	-	6	4233	c.3758C>T	c.(3757-3759)tCc>tTc	p.S1253F	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1253F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1253					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GCTGGAGAGGGATTCCATGCT	0.537000													52	65					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71395348	71395348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:71395348C>T	ENST00000392650.3	-	22	3052	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	SDK2_ENST00000388726.3_Missense_Mutation_p.D1018N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1018	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTTTTCCCATCGTAGCCTGGC	0.652000													25	37					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660215	77660215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:77660215G>A	ENST00000296043.6	+	5	1842	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	297					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGCCTCCTCGAAGGGATGAG	0.557000													40	71					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160086657	160086657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:160086657C>T	ENST00000263635.6	+	27	4957	c.4720C>T	c.(4720-4722)Cct>Tct	p.P1574S	TANC1_ENST00000454300.1_Missense_Mutation_p.P1468S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1574						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CGCTGCCACTCCTGCTGGGAG	0.557000													75	50					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14291101	14291101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:14291101G>A	ENST00000344204.4	+	5	841	c.817G>A	c.(817-819)Gag>Aag	p.E273K	TRIO_ENST00000509967.2_Missense_Mutation_p.E224K|TRIO_ENST00000537187.1_Missense_Mutation_p.E273K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	273					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGCCCCCATCGAGGACCTGGA	0.507000													42	56					0	0	1	0	0
ZFAND5	7763	broad.mit.edu	37	9	74971949	74971949	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:74971949C>G	ENST00000237937.3	-	5	948	c.391G>C	c.(391-393)Gtt>Ctt	p.V131L	ZFAND5_ENST00000376962.5_Missense_Mutation_p.V131L|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V131L|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.V131L	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	131							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GGCTGAGAAACTGATGGACTG	0.378000													4	39					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66782952	66782952	+	Nonstop_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:66782952A>C	ENST00000307102.5	+	11	1712	c.1181A>C	c.(1180-1182)tAa>tCa	p.*394S	SNAPC5_ENST00000563480.2_3'UTR|SNAPC5_ENST00000395589.2_3'UTR|MAP2K1_ENST00000566326.1_Nonstop_Mutation_p.*218S|CTD-3185P2.1_ENST00000565387.1_RNA	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	0					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GCTGGCGTCTAAGTGTTTGGG	0.542000													5	112					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949681	118949681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:118949681G>A	ENST00000328252.3	+	2	1033	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	222					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACCTCTGGGGAACAAGTGGG	0.567000													24	50					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37284583	37284583	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:37284583G>A	ENST00000233099.5	-	15	2195	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	HEATR5B_ENST00000354531.2_Silent_p.F700F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	700							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAGTCAAAGTGAATTCCGCTA	0.363000													17	36					0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64378080	64378080	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:64378080T>A	ENST00000476120.1	+	2	295	c.224T>A	c.(223-225)tTc>tAc	p.F75Y	ZNF273_ENST00000545510.1_Missense_Mutation_p.F42Y|ZNF273_ENST00000319636.5_Missense_Mutation_p.F10Y|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AACCTGGTCTTCCTGGGTGAG	0.358000													22	71					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846284	55846284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:55846284C>T	ENST00000322678.1	+	1	287	c.287C>T	c.(286-288)gCc>gTc	p.A96V	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AATGCTTGTGCCAGTCAAATA	0.388000													60	15					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47570941	47570941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:47570941G>A	ENST00000273859.3	+	16	3210	c.2941G>A	c.(2941-2943)Gat>Aat	p.D981N		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	981					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATTAAGTGAAGATTTACTTCA	0.478000													68	97					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504274	151504274	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:151504274C>T	ENST00000317605.4	+	1	1198	c.93C>T	c.(91-93)atC>atT	p.I31I	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	31					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCAAAACCATCCGAGAGGTCT	0.592000													30	19					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156216478	156216478	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156216478G>A	ENST00000292291.5	-	2	203	c.45C>T	c.(43-45)gtC>gtT	p.V15V	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Intron|PAQR6_ENST00000356983.2_5'UTR|PAQR6_ENST00000368270.1_Intron|PAQR6_ENST00000335852.1_5'UTR|PAQR6_ENST00000360733.2_5'UTR	NM_001272104.1|NM_001272105.1|NM_198406.1	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	15						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					TCACCCGGGGGACCTGGTGGA	0.592000													35	54					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279071	152279071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:152279071C>T	ENST00000368799.1	-	3	8326	c.8291G>A	c.(8290-8292)gGa>gAa	p.G2764E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2764	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGCGGGATCCTTGTCTTCC	0.577000									Ichthyosis				110	471					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144662305	144662305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:144662305C>T	ENST00000532741.1	-	7	2160	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	EEF1D_ENST00000532400.1_Missense_Mutation_p.G44E|EEF1D_ENST00000531621.1_Nonsense_Mutation_p.W185*|EEF1D_ENST00000524624.1_Nonsense_Mutation_p.W204*|EEF1D_ENST00000528610.1_Nonsense_Mutation_p.W204*|EEF1D_ENST00000442189.2_Nonsense_Mutation_p.W594*|EEF1D_ENST00000526838.1_Nonsense_Mutation_p.W209*|EEF1D_ENST00000395119.3_Nonsense_Mutation_p.W228*|EEF1D_ENST00000423316.2_Nonsense_Mutation_p.W594*|EEF1D_ENST00000529272.1_Nonsense_Mutation_p.W228*|EEF1D_ENST00000419152.2_Nonsense_Mutation_p.W228*|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000317198.6_Nonsense_Mutation_p.W228*			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	228					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TGGAAGCCCCCCAGACCAGCC	0.622000													22	50					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153965405	153965405	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:153965405A>G	ENST00000368559.3	-	40	5644	c.5573T>C	c.(5572-5574)tTt>tCt	p.F1858S	NUP210L_ENST00000368553.1_Missense_Mutation_p.F639S|NUP210L_ENST00000271854.3_Missense_Mutation_p.F1706S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1858				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345).		integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTGGAGTTAAAAAAACCTAG	0.438000													90	78					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3639003	3639003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:3639003G>A	ENST00000335312.3	-	16	1887	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.S600F|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.S600F|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.S600F	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	600					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ACCGGCCGGGGAAGCCTCCAC	0.687000													35	40					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203620270	203620270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:203620270C>T	ENST00000303116.6	+	5	980	c.238C>T	c.(238-240)Cca>Tca	p.P80S	FAM117B_ENST00000392238.2_Missense_Mutation_p.P324S	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	324	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GGCTCCTGTTCCAAAGAGTGC	0.398000													55	98					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727965	181727965	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:181727965C>T	ENST00000526775.1	+	31	4674	c.4509C>T	c.(4507-4509)tcC>tcT	p.S1503S	CACNA1E_ENST00000360108.3_Silent_p.S1503S|CACNA1E_ENST00000367573.2_Silent_p.S1522S|CACNA1E_ENST00000357570.5_Silent_p.S1473S|CACNA1E_ENST00000367567.4_Silent_p.S1129S|CACNA1E_ENST00000367570.1_Silent_p.S1522S|CACNA1E_ENST00000358338.5_Silent_p.S1454S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1522					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGTGTTTTCCCTGGAATGTG	0.478000													40	48					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108277597	108277597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:108277597G>A	ENST00000525729.1	-	3	244	c.175C>T	c.(175-177)Cca>Tca	p.P59S	C11orf65_ENST00000393084.1_Missense_Mutation_p.P108S|C11orf65_ENST00000529391.1_Missense_Mutation_p.P108S			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	108										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TGCTTTGCTGGAAGTTTTGCA	0.368000													38	58					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22051977	22051977	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:22051977G>A	ENST00000306385.5	+	11	1987	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	BMP1_ENST00000397816.3_Silent_p.V439V|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.V439V|BMP1_ENST00000306349.8_Silent_p.V439V	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	439	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGGGTGATGTGAAAAAGGACT	0.582000													38	84					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583579	179583579	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179583579C>T	ENST00000589042.1	-	84	24572	c.24348G>A	c.(24346-24348)agG>agA	p.R8116R	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.R6872R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.R7799R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7799	Ig-like 63.						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)			GCACCAGTTCCCTGCTGCCTT	0.488000													17	19					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3430129	3430129	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:3430129C>T	ENST00000529482.1	+	0	2258																											CAAATCCTTTCGAGCAGCGCC	0.547000													28	33					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757999	53757999	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:53757999C>T	ENST00000288139.3	+	15	2251	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	CACNA1D_ENST00000350061.5_Silent_p.F691F|CACNA1D_ENST00000422281.2_Silent_p.F691F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	691					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTGACAATTTCCCTCAAGCAC	0.473000													40	52					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110451555	110451555	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:110451555T>G	ENST00000265175.5	+	19	3242	c.3187T>G	c.(3187-3189)Tct>Gct	p.S1063A	SEC24B_ENST00000504968.2_Missense_Mutation_p.S1093A|SEC24B_ENST00000399100.2_Missense_Mutation_p.S1028A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1063					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTTACAGCACTCTGCATTGAT	0.418000													25	67					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88934497	88934497	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:88934497C>A	ENST00000556564.1	-	19	3793	c.3509G>T	c.(3508-3510)aGc>aTc	p.S1170I	PTPN21_ENST00000328736.3_Missense_Mutation_p.S1170I	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1170						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAGCCTGGAGCTTTTCAGGAA	0.483000													4	142					1	1	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46805046	46805046	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:46805046G>A	ENST00000262738.3	-	9	5072	c.5073C>T	c.(5071-5073)ccC>ccT	p.P1691P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1691	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGAAGAGCTGGGGGTGAGGCA	0.652000													29	86					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983995	97983995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:97983995G>A	ENST00000383696.2	+	1	908	c.867G>A	c.(865-867)atG>atA	p.M289I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGATATGATGGAGTCTCTAT	0.403000													12	27					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49227692	49227692	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:49227692G>A	ENST00000222145.4	-	10	2650	c.2446C>T	c.(2446-2448)Cta>Tta	p.L816L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	816	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GCTCCCTGTAGCCAGTCCAAG	0.567000													93	154					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137790600	137790600	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:137790600C>T	ENST00000327532.2	-	12	1862	c.1500G>A	c.(1498-1500)cgG>cgA	p.R500R	DZIP1L_ENST00000469243.1_Silent_p.R500R|DZIP1L_ENST00000488595.1_Intron	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	500						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CAGAAAACTTCCGGGCCTTCT	0.542000													51	30					0	0	1	0	0
FECH	2235	broad.mit.edu	37	18	55240527	55240527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:55240527G>A	ENST00000262093.5	-	3	416	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Missense_Mutation_p.L95F	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	89					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				AGTCTCAGAAGGAAGTCGTGA	0.383000													28	45					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046245	1046245	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:1046245C>A	ENST00000263094.6	+	13	1693	c.1462C>A	c.(1462-1464)Cca>Aca	p.P488T	ABCA7_ENST00000433129.1_Missense_Mutation_p.P488T|ABCA7_ENST00000435683.2_Missense_Mutation_p.P350T|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	488					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCCTGGCCCAGCCGCGGA	0.657000													74	315					9.25274e-37	9.48229e-37	1	1	0
ZNF783	100289678	broad.mit.edu	37	7	148964213	148964213	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:148964213C>T	ENST00000434415.1	+	4	736	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	191					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AACCAGACATCCTCACCCGGA	0.542000													28	49					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150922936	150922936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:150922936C>T	ENST00000271640.5	+	13	1773	c.1583C>T	c.(1582-1584)tCa>tTa	p.S528L	SETDB1_ENST00000368969.4_Missense_Mutation_p.S528L|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATTTGCAGATCACCTTTAGGC	0.547000													72	100					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74077595	74077595	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:74077595C>T	ENST00000394070.2	+	7	1463	c.960C>T	c.(958-960)ttC>ttT	p.F320F	STAMBP_ENST00000409707.1_Silent_p.F320F|STAMBP_ENST00000339566.3_Silent_p.F320F|STAMBP_ENST00000394073.1_Silent_p.F320F|STAMBP_ENST00000486458.1_3'UTR	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	320	MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AAGAACTTTTCCTCATACAGG	0.468000													42	56					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82891739	82891739	+	Silent	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:82891739A>T	ENST00000306270.7	-	26	4131	c.3582T>A	c.(3580-3582)tcT>tcA	p.S1194S	IBTK_ENST00000510291.1_Silent_p.S1179S|IBTK_ENST00000503631.1_Silent_p.S993S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1194					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AATGCAGAGAAGATGCCCTGC	0.353000													25	20					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939770	22939770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22939770C>T	ENST00000397104.3	-	6	2560	c.2561G>A	c.(2560-2562)gGg>gAg	p.G854E						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGGTTTCTCCCCAGTATGAAT	0.348000													23	31					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469293	10469293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:10469293G>A	ENST00000382483.3	-	4	2538	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	772					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGGCCGGCGAGCATGTCCT	0.662000													43	154					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103563995	103563995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:103563995G>A	ENST00000285402.3	+	1	196	c.40G>A	c.(40-42)Gac>Aac	p.D14N		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	14					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTCAGAAGGGACATAAAGAA	0.473000													23	76					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140905	143140905	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:143140905G>A	ENST00000332690.1	+	1	360	c.360G>A	c.(358-360)gtG>gtA	p.V120V	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	120					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTATTGTGTGAAAATTGCTA	0.502000													106	84					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122335957	122335957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:122335957G>T	ENST00000483793.1	+	4	608	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	PARP15_ENST00000493645.1_Nonsense_Mutation_p.E82*|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Nonsense_Mutation_p.E82*|PARP15_ENST00000464300.2_Nonsense_Mutation_p.E316*			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	365	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.E316K(1)|p.E82K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TATAGCCACTGAACAGGTAGA	0.353000													4	137					1	1	1	1	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139106912	139106912	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:139106912C>T	ENST00000354926.4	+	10	1359	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	C7orf55-LUC7L2_ENST00000263545.6_Silent_p.S334S|LUC7L2_ENST00000541515.3_Silent_p.S401S|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000541170.3_Silent_p.S332S	NM_016019.3	NP_057103.2																					TTTTCAGATCCTCAAAAGAAA	0.363000													26	31					0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98250982	98250982	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:98250982C>T	ENST00000284311.3	+	1	240	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	35						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CCTCTGTCTTCCTTCCAGTCT	0.488000													15	53					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48713792	48713792	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:48713792C>T	ENST00000316623.5	-	62	8117	c.7662G>A	c.(7660-7662)cgG>cgA	p.R2554R		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2554	EGF-like 44; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGAGAATCCCCGCTGGCATT	0.527000													16	23					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887166	25887166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:25887166G>A	ENST00000376351.3	+	11	2970	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	871						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGAGTCCACGGAGTCGGTGCC	0.493000													33	28					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21715933	21715933	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:21715933G>A	ENST00000261195.2	-	7	1235	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	327					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.F327F(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCCAGCAATGAAAAGGAACA	0.368000													29	47					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721950	176721950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:176721950G>A	ENST00000439151.2	+	23	7626	c.7581G>A	c.(7579-7581)tgG>tgA	p.W2527*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.W2258*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.W2424*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W2258*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2527					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGGACCCCTGGCAAGCTGTTA	0.532000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			44	175					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637284	60637284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:60637284C>T	ENST00000278853.5	+	3	593	c.593C>T	c.(592-594)tCc>tTc	p.S198F		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	198					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTTTACCATCCCCTGGACCT	0.612000													49	69					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476136	13476136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:13476136C>T	ENST00000360228.5	-	5	778	c.779G>A	c.(778-780)gGg>gAg	p.G260E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G260E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	260					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTACCTGTCCCCTCTTCAAA	0.458000													36	138					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103038452	103038452	+	Missense_Mutation	SNP	C	C	T	rs144199565		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:103038452C>T	ENST00000306312.3	-	9	1159	c.898G>A	c.(898-900)Gga>Aga	p.G300R	SLC26A5_ENST00000393723.1_Missense_Mutation_p.G300R|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G300R|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G263R|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G300R|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G300R|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G300R|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G300R|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G300R	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	300					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.G300*(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATGCCAGTTCCCATTACGACC	0.363000													71	53					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10299903	10299903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:10299903C>T	ENST00000403437.2	-	32	4589	c.4495G>A	c.(4495-4497)Gaa>Aaa	p.E1499K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1499					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTAGCGTTTCGAGTTGATCC	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596191	179596191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179596191C>T	ENST00000589042.1	-	59	17526	c.17302G>A	c.(17302-17304)Gat>Aat	p.D5768N	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4524N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5451N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5451	Ig-like 38.						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)			GTGATTTCATCGCTGTCTTTT	0.483000													16	21					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35456311	35456311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:35456311C>T	ENST00000378880.2	-	10	1820	c.1375G>A	c.(1375-1377)Ggg>Agg	p.G459R	PAMR1_ENST00000378878.3_Missense_Mutation_p.G348R|PAMR1_ENST00000278360.3_Missense_Mutation_p.G476R|PAMR1_ENST00000532848.1_Missense_Mutation_p.G419R	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	459	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGCGCAACCCTTGGGTCTTT	0.542000													94	118					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38560420	38560420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38560420G>A	ENST00000423485.1	-	19	2425	c.2267C>T	c.(2266-2268)tCt>tTt	p.S756F		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	756					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATGATGATAAGAAGACATTTC	0.393000													97	211					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134623952	134623952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:134623952G>A	ENST00000368586.5	-	57	7725	c.7625C>T	c.(7624-7626)tCt>tTt	p.S2542F	TTC40_ENST00000263170.5_Missense_Mutation_p.S703F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	703										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTCTGAAGGAGACGCACTGTT	0.622000													51	71					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72860302	72860302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:72860302C>T	ENST00000455107.2	-	10	1254	c.838G>A	c.(838-840)Gca>Aca	p.A280T	FDXR_ENST00000582944.1_Missense_Mutation_p.A316T|FDXR_ENST00000442102.2_Missense_Mutation_p.A367T|FDXR_ENST00000413947.2_Missense_Mutation_p.A355T|FDXR_ENST00000420580.2_Missense_Mutation_p.A284T|FDXR_ENST00000581530.1_Missense_Mutation_p.A330T|FDXR_ENST00000293195.5_Missense_Mutation_p.A324T|FDXR_ENST00000583917.1_Missense_Mutation_p.A296T|FDXR_ENST00000544854.1_Missense_Mutation_p.A272T			P22570	ADRO_HUMAN	ferredoxin reductase	324					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CGGACACCTGCTGCCCGCCGC	0.667000													43	48					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694723	42694723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:42694723G>A	ENST00000358131.5	+	6	1486	c.1278G>A	c.(1276-1278)atG>atA	p.M426I	TOX2_ENST00000341197.3_Missense_Mutation_p.M444I|TOX2_ENST00000372999.1_Missense_Mutation_p.M402I|TOX2_ENST00000435864.2_Missense_Mutation_p.M322I|TOX2_ENST00000423191.1_Missense_Mutation_p.M402I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	426	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTGGCGATGAGCCCCTCAC	0.662000													39	53					0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110148980	110148980	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:110148980T>A	ENST00000351050.3	-	5	726	c.540A>T	c.(538-540)aaA>aaT	p.K180N		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	180					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGCCCGTGGTTTTGACTCTGG	0.458000													116	66					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39046751	39046751	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:39046751C>T	ENST00000373256.4	+	9	946	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	301					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCAGGAACTCCAACATGAACT	0.587000													221	256					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71158464	71158464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:71158464C>T	ENST00000448642.2	+	22	2983	c.2594C>T	c.(2593-2595)gCc>gTc	p.A865V	HK1_ENST00000359426.6_Missense_Mutation_p.A830V|HK1_ENST00000404387.2_Missense_Mutation_p.A834V|HK1_ENST00000298649.3_Missense_Mutation_p.A829V|HK1_ENST00000360289.2_Missense_Mutation_p.A818V			P19367	HXK1_HUMAN	hexokinase 1	830	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCCAGGAGGGCCGCACAGCTG	0.602000													31	60					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5832940	5832940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:5832940C>T	ENST00000339450.5	-	1	177	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	30					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GCCTCCCTCTCCGGCGGTGGC	0.751000													9	10					0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36079603	36079603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:36079603G>A	ENST00000360731.3	+	3	1454	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	CLIC6_ENST00000349499.2_Missense_Mutation_p.G467E			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	485						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GAGAGTATCGGAAATTGCCCG	0.443000													47	44					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996144	19996144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:19996144C>T	ENST00000391403.2	-	1	1734	c.1631G>A	c.(1630-1632)gGa>gAa	p.G544E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	544						integral to membrane		p.G544V(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCTTGATTCTCCTCTTTCTTT	0.547000													42	55					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100403968	100403968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:100403968G>A	ENST00000281806.2	-	2	370	c.56C>T	c.(55-57)tCc>tTc	p.S19F	MCHR2_ENST00000445970.1_Missense_Mutation_p.S19F|MCHR2_ENST00000369212.1_Missense_Mutation_p.S19F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	19						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTATTCCAGGATTTGTTTAA	0.423000													55	64					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995503	1995503	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:1995503C>T	ENST00000382722.5	-	8	1241	c.879G>A	c.(877-879)gtG>gtA	p.V293V	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Silent_p.V293V|CACNA2D4_ENST00000587995.1_Silent_p.V293V|CACNA2D4_ENST00000585708.1_Silent_p.V229V|CACNA2D4_ENST00000588077.1_Silent_p.V229V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	293	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCACCAAAATCACTATGTCCT	0.507000													48	54					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18740248	18740248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:18740248C>T	ENST00000513874.1	-	8	863	c.724G>A	c.(724-726)Gac>Aac	p.D242N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	242	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GTCTCTTTGTCTTCCAGGGGC	0.473000													128	163					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422232	47422232	+	Silent	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:47422232T>A	ENST00000404338.3	+	1	300	c.300T>A	c.(298-300)atT>atA	p.I100I		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	100					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTGAATTTATTGATGATCAGA	0.468000													90	119					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161132202	161132202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:161132202C>T	ENST00000308192.9	+	4	449	c.386C>T	c.(385-387)tCc>tTc	p.S129F	PLG_ENST00000366924.2_Missense_Mutation_p.S129F|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	129	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAATGGAGTTCCACTTCTCCC	0.453000													17	30					0	0	1	0	0
CTAGE15	441294	broad.mit.edu	37	7	143268938	143268938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:143268938C>T	ENST00000420911.2	+	1	45	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S		NM_001008747.1	NP_001008747.1			CTAGE family, member 15																		TACCCCTCAGCCCTACCTGGG	0.587000													25	25					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530532	110530532	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:110530532C>T	ENST00000378402.5	+	73	11930	c.11826C>T	c.(11824-11826)ttC>ttT	p.F3942F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3942					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGTTTCTTTCCAATTATCTG	0.353000										HNSCC(38;0.096)			22	52					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003998	57003998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:57003998C>T	ENST00000606794.1	-	1	677	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	161						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ACAGGCATGGCCAGGAGGGCG	0.632000													25	56					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59564525	59564525	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:59564525A>C	ENST00000288235.4	-	2	526	c.127T>G	c.(127-129)Tac>Gac	p.Y43D		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	43	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TCATCCATGTATCTCTTCTTC	0.438000													36	95					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596334	6596334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:6596334G>A	ENST00000285599.3	+	7	968	c.932G>A	c.(931-933)aGc>aAc	p.S311N	MAN2B2_ENST00000504248.1_Intron	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	311					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CACATCAACAGCCATGCTGCC	0.602000													91	92					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44105077	44105077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:44105077G>A	ENST00000297283.3	-	1	109	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	18					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CGGTTCTCCTGGTTCCATGTG	0.627000													44	109					0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	34960667	34960667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:34960667G>A	ENST00000453626.1	-	1	285	c.281C>T	c.(280-282)cCc>cTc	p.P94L	DONSON_ENST00000303113.6_Missense_Mutation_p.P94L|DONSON_ENST00000432378.1_Missense_Mutation_p.P94L|DONSON_ENST00000303071.5_Missense_Mutation_p.P94L|AP000304.12_ENST00000429238.1_Intron			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	94					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CGGCCCGTCGGGGGGCTCCGC	0.766000													7	6					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77227603	77227603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:77227603G>A	ENST00000591814.1	+	8	2408	c.2113G>A	c.(2113-2115)Gta>Ata	p.V705I	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000592223.1_Missense_Mutation_p.V692I|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Intron	NM_172390.1	NP_765978.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	0	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTTTCTAACCGTAAGCCGTGA	0.522000													18	45					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90015878	90015878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:90015878C>T	ENST00000405460.2	+	44	9557	c.9461C>T	c.(9460-9462)tCt>tTt	p.S3154F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3154	Calx-beta 22.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTACAAATATCTGCCATATTA	0.368000													57	102					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270527	53270527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:53270527G>A	ENST00000338230.3	-	3	749	c.482C>T	c.(481-483)tCt>tTt	p.S161F		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACATTGGAAAGATTTTTCTCT	0.368000													64	88					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006377	16006377	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16006377G>A	ENST00000221700.5	-	3	377	c.282C>T	c.(280-282)ccC>ccT	p.P94P	CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	94					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGGGGAGATGGGTCCCATCC	0.597000													200	260					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70222682	70222682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:70222682G>A	ENST00000253925.7	+	25	3575	c.3360G>A	c.(3358-3360)atG>atA	p.M1120I	PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1120I|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1120	SAM 3.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTTTGGTCATGGGGACTGATA	0.333000													65	121					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64900542	64900542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:64900542G>A	ENST00000526060.1	-	4	421	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	SYVN1_ENST00000307289.6_Missense_Mutation_p.L77F|SYVN1_ENST00000377190.3_Missense_Mutation_p.L77F|SYVN1_ENST00000294256.8_Missense_Mutation_p.L77F			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	77					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGTTCCAGAAGGTGCTGGGGG	0.552000													48	71					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97098520	97098520	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:97098520G>A	ENST00000524981.3	+	14	1827		c.e14-1					Q6ZTY8	CL063_HUMAN												breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TATTTTGACAGATCTTTCAAT	0.244000													13	3					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582746	90582746	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:90582746C>T	ENST00000371930.4	-	6	738	c.528G>A	c.(526-528)cgG>cgA	p.R176R	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	176										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ATTTTAATCTCCGTGCAATAT	0.403000													76	80					0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4475575	4475575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:4475575C>T	ENST00000301284.4	+	3	347	c.283C>T	c.(283-285)Cct>Tct	p.P95S	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.P95S	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		95					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CTACAGCGCCCCTCCGGTGAG	0.582000													15	51					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57589163	57589163	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:57589163G>A	ENST00000243077.3	+	52	8884	c.8418G>A	c.(8416-8418)gaG>gaA	p.E2806E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2806	LDL-receptor class A 17.				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)	GTGCAGACGAGAGCATCGCAG	0.652000													214	44					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128690270	128690270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:128690270C>T	ENST00000265068.5	-	8	1195	c.1028G>A	c.(1027-1029)gGg>gAg	p.G343E	KIAA1257_ENST00000511438.1_Missense_Mutation_p.G343E|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G231E	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	343										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGAATCTTTCCCTTTAACTGT	0.488000													8	5					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9075271	9075271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:9075271C>T	ENST00000433083.2	+	5	509	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	PHC1_ENST00000536844.1_Intron|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.R167W|PHC1_ENST00000544916.1_Missense_Mutation_p.R167W			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	167					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AACCCTGGGTCGGAATGTGCC	0.557000													4	12					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109777484	109777484	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:109777484A>T	ENST00000356711.2	+	30	3620	c.3494A>T	c.(3493-3495)cAg>cTg	p.Q1165L	MYO16_ENST00000457511.2_Missense_Mutation_p.Q677L|MYO16_ENST00000357550.2_Missense_Mutation_p.Q1165L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1165	IQ.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTAGCACGCCAGCACCTGCTT	0.403000													7	60					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45765931	45765931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:45765931C>T	ENST00000357450.4	-	15	2322	c.2323G>A	c.(2323-2325)Gat>Aat	p.D775N	SMC1B_ENST00000404354.3_Missense_Mutation_p.D775N	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	775					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGGAAGATATCGTCTTCTACC	0.274000													11	6					0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49531560	49531560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:49531560C>T	ENST00000327171.3	+	5	699	c.467C>T	c.(466-468)tCc>tTc	p.S156F	GALK2_ENST00000396509.2_Missense_Mutation_p.S143F|GALK2_ENST00000560031.1_Missense_Mutation_p.S167F|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000543495.1_Missense_Mutation_p.S38F|GALK2_ENST00000544523.1_Missense_Mutation_p.S143F|GALK2_ENST00000559454.1_Missense_Mutation_p.S143F	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	167					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		AGGAATCTATCCAAGGTAACT	0.448000													31	34					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885234	88885234	+	Silent	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:88885234C>G	ENST00000319675.3	-	1	1062	c.966G>C	c.(964-966)gtG>gtC	p.V322V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	322										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTTCTTCGTTCACATGCACGG	0.542000													50	46					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28274109	28274109	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:28274109G>A	ENST00000305242.5	-	4	506	c.414C>T	c.(412-414)ggC>ggT	p.G138G	ARMC4_ENST00000239715.3_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	138							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TATAATCAGAGCCCAGGATTT	0.308000													6	4					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435663	145435663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:145435663C>T	ENST00000511217.1	+	7	1494	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.P481L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	481							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGCCGTCCCTTCAAATCC	0.582000													113	15					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151451863	151451863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:151451863C>T	ENST00000356517.3	+	1	149	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	14						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCTTTGTGTTCTTTTTGTCTC	0.388000													19	11					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624215	32624215	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:32624215G>A	ENST00000286827.3	-	6	1725	c.1254C>T	c.(1252-1254)agC>agT	p.S418S	TIAM1_ENST00000541036.1_Silent_p.S418S|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	418					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCCCGGAGAGCTCAGGGTGC	0.667000													80	75					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10104169	10104169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:10104169C>T	ENST00000324907.9	+	6	1037	c.901C>T	c.(901-903)Cga>Tga	p.R301*	GRHL1_ENST00000324883.5_Nonsense_Mutation_p.R112*|GRHL1_ENST00000405379.2_Nonsense_Mutation_p.R301*	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	301					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CAGCAAAGTTCGAGTAAGTTC	0.478000													28	58					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635227	33635227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:33635227C>T	ENST00000380099.3	+	4	2019	c.2011C>T	c.(2011-2013)Cga>Tga	p.R671*	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	671	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.R671*(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGAGTATGCCCGACTGTGCTT	0.577000													51	71					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41577211	41577211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:41577211C>T	ENST00000396942.1	-	10	1158	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	ANK1_ENST00000352337.4_Missense_Mutation_p.D359N|ANK1_ENST00000347528.4_Missense_Mutation_p.D359N|ANK1_ENST00000379758.2_Missense_Mutation_p.D359N|ANK1_ENST00000289734.7_Missense_Mutation_p.D359N|ANK1_ENST00000396945.1_Missense_Mutation_p.D359N|ANK1_ENST00000265709.8_Missense_Mutation_p.D392N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	359	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCCCTTTATCCAGAAGGACC	0.622000													221	185					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856098	54856098	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:54856098C>T	ENST00000333896.5	+	13	2173	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	SPTBN1_ENST00000356805.4_Silent_p.I609I	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	609					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCAGGTGATCCGAGACCGCG	0.607000													115	135					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130485509	130485509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:130485509G>A	ENST00000373289.3	+	7	849	c.769G>A	c.(769-771)Gat>Aat	p.D257N	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.D81N|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	257							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCGCGCCAAGATGCGGGGAT	0.637000													33	39					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38155261	38155261	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:38155261A>G	ENST00000406386.3	+	17	6569	c.6314A>G	c.(6313-6315)tAc>tGc	p.Y2105C	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.Y392C|TRIOBP_ENST00000407319.2_Missense_Mutation_p.Y392C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2105					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCCCGGGCTACATCTCACAG	0.612000													5	81					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701808	17701808	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:17701808T>G	ENST00000353383.1	+	3	6015	c.5546T>G	c.(5545-5547)aTg>aGg	p.M1849R	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1849						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGGAGGCCATGAAGGTGGCC	0.677000													3	70					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731321	24731321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24731321G>A	ENST00000206765.6	-	2	361	c.238C>T	c.(238-240)Cct>Tct	p.P80S	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	80	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CGGGAGCCAGGTCTTCGAGTG	0.652000													58	95					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123963952	123963952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:123963952G>A	ENST00000314393.4	+	3	1037	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	68						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCTATGGGGGAAAGCCAGTC	0.493000													35	24					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329306	56329306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:56329306C>T	ENST00000443188.1	-	4	945	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	NLRP11_ENST00000589824.2_Missense_Mutation_p.E79K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E79K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E79K|NLRP11_ENST00000592953.1_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	79	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAAGATCTTCCTTACGCATC	0.458000													61	81					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745329	135745329	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:135745329C>T	ENST00000375845.3	-	7	1143	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	MAP3K19_ENST00000392915.1_Silent_p.K388K|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.K258K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		AACTCTCATTCTTTCTTGATG	0.383000													25	34					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135282769	135282769	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:135282769C>T	ENST00000285968.6	+	15	2114	c.2088C>T	c.(2086-2088)tcC>tcT	p.S696S	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	696					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAATAGAATCCCGGTGTGAAG	0.403000													123	77					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206230981	206230981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:206230981C>T	ENST00000367126.4	+	2	1579	c.1114C>T	c.(1114-1116)Ctc>Ttc	p.L372F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	372					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGACGGCAGCCTCTCGAGCCG	0.701000													5	4					0	0	1	0	0
ANKRD39	51239	broad.mit.edu	37	2	97519293	97519293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:97519293C>T	ENST00000393537.4	-	3	360	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	85										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						GCTCCGCTTTCCAGCAGGAAC	0.617000													49	62					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784896	130784896	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:130784896G>A	ENST00000265909.4	-	1	1508	c.939C>T	c.(937-939)ttC>ttT	p.F313F	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Silent_p.F313F|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	313					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGTAACTTAGGAATACTGGGG	0.557000													60	96					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43237099	43237099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43237099C>T	ENST00000327495.5	-	3	730	c.546G>A	c.(544-546)atG>atA	p.M182I	PSG3_ENST00000595140.1_Missense_Mutation_p.M182I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	182	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCTGACCATTCATCCACCACA	0.512000													163	204					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148365	34148365	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:34148365C>T	ENST00000346193.3	-	1	2082	c.2031G>A	c.(2029-2031)agG>agA	p.R677R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	677										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTGGAATTTCCTGCCCCAGT	0.433000													83	6					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4927260	4927260	+	Silent	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4927260A>G	ENST00000320785.5	+	23	3483	c.3126A>G	c.(3124-3126)ggA>ggG	p.G1042G		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1042	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GATCCCGGGGAGCGGGTTCTG	0.687000													29	53					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202658	140202658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140202658C>T	ENST00000529859.1	+	1	1298	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S433L|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S433L	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.637000													195	36					0	0	1	0	0
TSPAN7	7102	broad.mit.edu	37	X	38420808	38420808	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:38420808G>A	ENST00000378482.2	+	1	186	c.9G>A	c.(7-9)tcG>tcA	p.S3S	TSPAN7_ENST00000545599.1_5'UTR|TSPAN7_ENST00000422612.2_5'UTR|TSPAN7_ENST00000286824.6_Silent_p.S3S|TM4SF2_ENST00000465127.1_Intron	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	3					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTATGGCATCGAGGAGAATGG	0.706000													52	7					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42062260	42062260	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:42062260A>G	ENST00000264451.6	+	10	1073	c.893A>G	c.(892-894)cAt>cGt	p.H298R		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	298					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GATCCTTCTCATCCGTAAGGA	0.353000													53	152					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2537724	2537724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:2537724C>T	ENST00000288709.6	-	8	926	c.686G>A	c.(685-687)tGg>tAg	p.W229*	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.W238*	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	238					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GTCGTCGTTCCAGATGAAGAG	0.647000													69	41					0	0	1	0	0
TRIM44	54765	broad.mit.edu	37	11	35747489	35747489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:35747489G>A	ENST00000299413.5	+	3	1072	c.765G>A	c.(763-765)atG>atA	p.M255I	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	255						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				GGGACCAAATGAAGATGTTTA	0.408000													17	24					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80750364	80750364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:80750364G>A	ENST00000509894.1	+	21	3260	c.2431G>A	c.(2431-2433)Gtt>Att	p.V811I	TTK_ENST00000230510.3_Missense_Mutation_p.V811I|TTK_ENST00000369798.2_Missense_Mutation_p.V812I			P33981	TTK_HUMAN	TTK protein kinase	812					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATGAAATATGTTCTGGGCCA	0.299000													21	35					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070984	73070984	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:73070984C>T	ENST00000429829.1	-	0	1604					NR_001564.2																						ATGCAGCAATCCAGCACTGTC	0.512000													319	22					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153633	2153633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:2153633G>A	ENST00000262304.4	-	23	8633	c.8425C>T	c.(8425-8427)Ccc>Tcc	p.P2809S	PKD1_ENST00000423118.1_Missense_Mutation_p.P2809S|PKD1_ENST00000561991.1_Intron	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2809	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGCCTCGGGGATGGAGAAG	0.647000													28	47					0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156263217	156263217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156263217G>A	ENST00000362007.1	-	5	975	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_3'UTR	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	317					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					CGGACAATGGGTGACTGGGGA	0.572000													44	40					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36259114	36259114	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:36259114C>G	ENST00000394571.2	+	2	223	c.223C>G	c.(223-225)Ctc>Gtc	p.L75V	PNPLA1_ENST00000388715.3_5'UTR|PNPLA1_ENST00000312917.5_5'UTR	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	75	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCTCAGAGTCCTCAACGTGGG	0.582000													34	30					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52596091	52596091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:52596091C>T	ENST00000591504.1	-	8	897	c.623G>A	c.(622-624)aGa>aAa	p.R208K	CCDC68_ENST00000337363.4_Missense_Mutation_p.R208K|CCDC68_ENST00000432185.1_Missense_Mutation_p.R208K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	208										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGACAGTTTTCTTTCTAGTAG	0.363000													6	20					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949515	38949515	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38949515C>T	ENST00000450244.1	-	10	1596	c.1398G>A	c.(1396-1398)agG>agA	p.R466R	SCN11A_ENST00000444237.2_Silent_p.R466R|SCN11A_ENST00000456224.3_Silent_p.R466R|SCN11A_ENST00000302328.3_Silent_p.R466R			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	466					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGAAGGACTTCCTTTTCTTAT	0.403000													27	47					0	0	1	0	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165195	39165195	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:39165195C>T	ENST00000391588.1	-	1	171	c.132G>A	c.(130-132)caG>caA	p.Q44Q	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	44	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				AGCAGATGGGCTGAAGGAGGC	0.597000													36	23					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613385	3613385	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:3613385G>A	ENST00000301749.7	-	0	1958				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGAGGCCGGAGAGGAAGCG	0.687000													7	3					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196199272	196199272	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:196199272G>A	ENST00000318037.3	-	6	1728	c.1134C>T	c.(1132-1134)tgC>tgT	p.C378C		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	378					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TGATCAGTAGGCACGACTCTT	0.443000													45	109					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26620781	26620781	+	Silent	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:26620781G>T	ENST00000374222.1	-	9	938	c.474C>A	c.(472-474)ccC>ccA	p.P158P	UBXN11_ENST00000374221.3_Silent_p.P158P|UBXN11_ENST00000436301.2_Silent_p.P83P|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000357089.4_Silent_p.P125P|UBXN11_ENST00000535108.1_5'UTR|UBXN11_ENST00000374217.2_Silent_p.P125P			Q5T124	UBX11_HUMAN	UBX domain protein 11	158						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CCTGGTCCATGGGCTCGCCCA	0.612000													66	80					3.78446e-69	3.9132e-69	1	1	0
ELFN2	114794	broad.mit.edu	37	22	37771076	37771076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:37771076C>T	ENST00000402918.1	-	3	1284	c.499G>A	c.(499-501)Gac>Aac	p.D167N	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.D167N	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	167						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTGGCACCGTCCAGGCGGCTG	0.647000													101	65					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65268401	65268401	+	RNA	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:65268401T>C	ENST00000534336.1	+	0	3169					NR_002819.2																						TTTTCAGGCTTATACTCATGA	0.403000													11	56					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806653	6806653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:6806653C>T	ENST00000307401.4	+	1	406	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATTTGTCATCCTCTGACATA	0.537000													25	58					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525084	112525084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:112525084C>T	ENST00000369697.1	-	1	334	c.265G>A	c.(265-267)Gag>Aag	p.E89K	KCND3_ENST00000315987.2_Missense_Mutation_p.E89K|KCND3_ENST00000302127.4_Missense_Mutation_p.E89K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	89						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CGGAACACCTCGGGGTCCCGG	0.622000													55	175					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179622629	179622629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179622629C>T	ENST00000589042.1	-	45	10542	c.10318G>A	c.(10318-10320)Gaa>Aaa	p.E3440K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3394K|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3146							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)			GTATTTTCTTCAAATTTGCTA	0.388000													21	43					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678703	130678703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:130678703G>A	ENST00000338616.3	+	1	754	c.656G>A	c.(655-657)cGa>cAa	p.R219Q		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCCTACATACGAATTGCTATG	0.483000													144	11					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75830736	75830736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:75830736C>T	ENST00000211998.4	+	4	488	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R132C	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	132	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TTTTCAGGTCCGTAAAATTAT	0.368000													14	23					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119575764	119575764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:119575764G>A	ENST00000235521.4	-	6	879	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.L191F	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	285					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TCCACGGAGAGCCCCGTCACC	0.627000													90	43					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49688098	49688098	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49688098C>T	ENST00000296452.4	+	4	1686	c.1572C>T	c.(1570-1572)agC>agT	p.S524S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	524					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGAGGGCAGCCTAGGAGAGC	0.587000													121	153					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9043099	9043099	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:9043099C>T	ENST00000382496.5	-	23	3800	c.3135G>A	c.(3133-3135)gaG>gaA	p.E1045E	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1045					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTTTCTTTCCTCTAGGATCA	0.313000													20	16					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618572	122618572	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:122618572C>T	ENST00000377037.2	+	2	540	c.540C>T	c.(538-540)ccC>ccT	p.P180P	MLXIP_ENST00000538698.1_Intron|MLXIP_ENST00000319080.6_Intron			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	59	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGCTCCCCCCGACCCAGAGG	0.587000													12	9					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51581361	51581361	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:51581361G>C	ENST00000452682.1	+	6	763	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R	NCOA4_ENST00000374082.1_Missense_Mutation_p.G155R|NCOA4_ENST00000374087.4_Missense_Mutation_p.G155R|NCOA4_ENST00000438493.1_Missense_Mutation_p.G171R|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.G155R|NCOA4_ENST00000443446.1_Missense_Mutation_p.G155R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G55R|NCOA4_ENST00000498586.1_3'UTR	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	155					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CACCACATTTGGGTCTCTCAA	0.443000			T	RET	papillary thyroid								34	91					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84270636	84270636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:84270636G>A	ENST00000428679.2	-	27	3066	c.2473C>T	c.(2473-2475)Cct>Tct	p.P825S	SNAP91_ENST00000439399.2_Missense_Mutation_p.P825S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P518S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P820S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P518S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P825S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P820S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P795S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P825S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	825	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCAACAGGAGGAACTGAACTG	0.423000													19	21					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2833937	2833937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:2833937C>T	ENST00000380739.5	-	7	1247	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	SERPINB1_ENST00000537185.1_Missense_Mutation_p.E198K			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	349					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		AAATTTTCTTCGGGCATCAAC	0.448000													23	28					0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12534912	12534912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:12534912G>A	ENST00000538608.1	+	9	780	c.644G>A	c.(643-645)gGa>gAa	p.G215E	PARVA_ENST00000334956.8_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000539723.1_Intron			Q9NVD7	PARVA_HUMAN	parvin, alpha	171					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		AAAAAGGTGGGAAAGGGGTGC	0.522000													26	153					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725524	87725524	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:87725524C>T	ENST00000305344.4	+	2	1175	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	HTR1E_ENST00000369584.1_Silent_p.L158L	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	158					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CATGCCCCCTCTGTTCTGGAG	0.562000													40	92					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108868931	108868931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:108868931C>T	ENST00000329106.2	+	2	283	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	SULT1C3_ENST00000376700.1_Missense_Mutation_p.P95S	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	95						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACTGAAATTTCCCCATAAAGA	0.398000													26	43					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20003309	20003309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:20003309C>T	ENST00000440926.1	-	17	2013	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	SLC18A1_ENST00000437980.1_Missense_Mutation_p.G470E|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E483K|SLC18A1_ENST00000276373.5_Missense_Mutation_p.E515K|SLC18A1_ENST00000519026.1_Missense_Mutation_p.E483K|SLC18A1_ENST00000381608.4_Missense_Mutation_p.G470E	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	515					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TCACTGTCCTCCCCCAGAGGA	0.547000													24	72					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179656878	179656878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179656878G>A	ENST00000589042.1	-	10	1807	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	TTN_ENST00000342175.6_Missense_Mutation_p.S528F|TTN_ENST00000359218.5_Missense_Mutation_p.S528F|TTN_ENST00000342992.6_Missense_Mutation_p.S528F|TTN_ENST00000360870.5_Missense_Mutation_p.S528F|TTN_ENST00000460472.2_Missense_Mutation_p.S528F|TTN_ENST00000591111.1_Missense_Mutation_p.S528F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	528							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)			TTTAGCTGCGGAAATTACTAC	0.294000													13	22					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60776166	60776166	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:60776166C>T	ENST00000313421.7	+	4	816	c.630C>T	c.(628-630)gcC>gcT	p.A210A	CD6_ENST00000344028.5_Silent_p.A210A|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Silent_p.A210A|CD6_ENST00000352009.5_Silent_p.A210A|CD6_ENST00000452451.2_Silent_p.A210A	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	210	SRCR 2.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGTCCAGGCCCTGCCCGGCT	0.692000													9	17					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102824932	102824932	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:102824932C>G	ENST00000260302.3	-	4	618	c.590G>C	c.(589-591)gGa>gCa	p.G197A	MMP13_ENST00000340273.4_Missense_Mutation_p.G197A	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	197					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGGCATCTCCTCCATAATT	0.423000													7	39					0	0	1	0	0
ODF3L2	284451	broad.mit.edu	37	19	474703	474703	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:474703G>A	ENST00000315489.4	-	1	280	c.45C>T	c.(43-45)gcC>gcT	p.A15A	ODF3L2_ENST00000382696.3_Silent_p.A15A	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	15										large_intestine(1)|lung(2)	3						GGCCAAGGGGGGCTGTGGCCA	0.711000													13	13					0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47602408	47602408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:47602408G>A	ENST00000534716.2	+	4	271	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NDUFS3_ENST00000528192.1_Missense_Mutation_p.E85K|NDUFS3_ENST00000263774.4_Missense_Mutation_p.E85K|NDUFS3_ENST00000534208.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	85					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	CAATGAGTTAGAGGTCTGTAT	0.498000													122	206					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671801	125671801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:125671801C>T	ENST00000431078.1	+	24	4221	c.3857C>T	c.(3856-3858)tCc>tTc	p.S1286F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1286					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGGACAGTTCCTTCAGAAAT	0.428000													23	36					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512186	104512186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:104512186G>A	ENST00000372582.1	+	5	1415	c.659G>A	c.(658-660)gGa>gAa	p.G220E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G220E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	220	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATATGAAGGAAAACTTGTA	0.333000													34	2					0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765303	19765303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:19765303G>A	ENST00000405844.1	-	3	988	c.293C>T	c.(292-294)tCc>tTc	p.S98F	TMEM196_ENST00000433641.1_Missense_Mutation_p.S30F|TMEM196_ENST00000422233.1_Missense_Mutation_p.S30F|TMEM196_ENST00000405764.3_Missense_Mutation_p.S98F|TMEM196_ENST00000493519.1_Missense_Mutation_p.S30F			Q5HYL7	TM196_HUMAN	transmembrane protein 196	104						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GTATAGGGAGGAAGTTTTCTT	0.502000													22	28					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8609072	8609072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:8609072G>A	ENST00000382480.2	+	7	1536	c.736G>A	c.(736-738)Gac>Aac	p.D246N	CPZ_ENST00000315782.6_Missense_Mutation_p.D372N|CPZ_ENST00000360986.4_Missense_Mutation_p.D383N|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	383					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCATGGGGGCGACCTGGTGGT	0.607000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	86	90					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122439497	122439497	+	Silent	SNP	C	C	T	rs138943666	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:122439497C>T	ENST00000288912.4	+	21	4184	c.3330C>T	c.(3328-3330)tcC>tcT	p.S1110S		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1110							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAACCTGCTCCGTCAAAGGTA	0.507000													82	64					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33330872	33330872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:33330872G>A	ENST00000374796.2	-	12	5758	c.3188C>T	c.(3187-3189)cCc>cTc	p.P1063L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1063L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1063	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.P1063L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGGAGTCGGGGTTCAGGGG	0.527000													158	225					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45288156	45288156	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:45288156G>A	ENST00000372192.3	-	22	3673	c.3543C>T	c.(3541-3543)ccC>ccT	p.P1181P	PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1181					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)					GGGACCAAGGGGGCTCATCAG	0.627000									Basal Cell Nevus syndrome				71	42					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196199271	196199271	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:196199271G>A	ENST00000318037.3	-	6	1729	c.1135C>T	c.(1135-1137)Cta>Tta	p.L379L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	379					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGATCAGTAGGCACGACTCT	0.448000													45	109					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26912209	26912209	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:26912209T>C	ENST00000321765.5	-	10	2310	c.1978A>G	c.(1978-1980)Agt>Ggt	p.S660G		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	660	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CGGGACCGACTCAGCAAAGCT	0.498000													102	71					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37398061	37398061	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:37398061C>T	ENST00000405091.2	-	4	557	c.306G>A	c.(304-306)tcG>tcA	p.S102S	TEX33_ENST00000381821.1_Silent_p.S102S|TEX33_ENST00000402860.3_Silent_p.S17S			O43247	EAN57_HUMAN	testis expressed 33	102																	TGTTCTCTCTCGAGGAGGATC	0.657000													14	14					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36625327	36625327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:36625327C>T	ENST00000373448.2	-	7	3060	c.2822G>A	c.(2821-2823)gGt>gAt	p.G941D	TTI1_ENST00000449821.1_Missense_Mutation_p.G941D|TTI1_ENST00000373447.3_Missense_Mutation_p.G941D	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	941							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGAAAGTCACCACACTTGCT	0.542000													75	126					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130079376	130079376	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:130079376T>C	ENST00000278742.5	+	18	2727	c.2309T>C	c.(2308-2310)gTc>gCc	p.V770A		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	770	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGATCCGCGTCATCAACCAG	0.662000													3	17					0	0	1	0	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691741	12691741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:12691741G>A	ENST00000593682.1	-	1	48	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	ZNF490_ENST00000311437.6_Missense_Mutation_p.T383I																							TCCAAAATGAGTTCTTTCGTG	0.413000													59	64					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155307003	155307003	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:155307003G>A	ENST00000392825.3	+	13	2178	c.1611G>A	c.(1609-1611)caG>caA	p.Q537Q	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	537	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTACAATGCAGGACTGTAGTG	0.443000													23	24					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6194852	6194852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:6194852C>T	ENST00000262450.3	-	19	3037	c.2938G>A	c.(2938-2940)Gta>Ata	p.V980I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	980					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCAGCGATACTTGGTTCCCG	0.567000													312	188					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101450243	101450243	+	RNA	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:101450243A>G	ENST00000554693.2	+	0	799				SNORD114-23_ENST00000363536.1_RNA																							GTGGCGTATGAGTCATAGACA	0.363000													46	72					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981663	40981663	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:40981663G>A	ENST00000313164.9	+	18	2879	c.2520G>A	c.(2518-2520)gcG>gcA	p.A840A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	840	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTTGTGCTGCGGAAACCCAGT	0.587000													8	13					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3225781	3225781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:3225781C>T	ENST00000355072.5	+	56	7833	c.7688C>T	c.(7687-7689)tCa>tTa	p.S2563L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2563					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCAATGGTTTCAAAGAGAGAG	0.453000													140	136					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925336	27925336	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:27925336C>T	ENST00000244623.1	+	1	318	c.318C>T	c.(316-318)gcC>gcT	p.A106A		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATTTCTGGCCTTGGGGGCTA	0.448000													23	41					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212554	100212554	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100212554G>A	ENST00000393950.2	+	4	858	c.576G>A	c.(574-576)gtG>gtA	p.V192V	MOSPD3_ENST00000424091.2_Silent_p.V182V|MOSPD3_ENST00000379527.2_Silent_p.V192V|MOSPD3_ENST00000223054.4_Silent_p.V192V	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	192						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGTGTCTGTGGCCTTCCTGC	0.612000													179	124					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319147	21319147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:21319147C>T	ENST00000583088.1	+	3	1388	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	KCNJ12_ENST00000331718.5_Nonsense_Mutation_p.Q165*	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGTGGTGGCCCAGTCCATCGT	0.622000										Prostate(3;0.18)			16	133					0	0	1	0	0
FAM209B	388799	broad.mit.edu	37	20	55111278	55111278	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:55111278G>A	ENST00000371325.1	+	2	396	c.300G>A	c.(298-300)aaG>aaA	p.K100K		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	100						integral to membrane											CTCCACTAAAGAAAAATCAAA	0.393000													18	100					0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7894035	7894035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:7894035C>T	ENST00000542353.1	-	4	707	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	CLEC4C_ENST00000354629.5_Missense_Mutation_p.E42K|CLEC4C_ENST00000360345.3_Missense_Mutation_p.E73K|CLEC4C_ENST00000540085.1_Missense_Mutation_p.E42K	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	73					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TCCTTTCCTTCCATGACGCAG	0.413000													85	108					0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128750708	128750708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:128750708C>T	ENST00000377970.2	+	2	755	c.245C>T	c.(244-246)tCc>tTc	p.S82F	MYC_ENST00000524013.1_Missense_Mutation_p.S81F|MYC_ENST00000259523.6_Missense_Mutation_p.S67F	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	67					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AGCCGCCGCTCCGGGCTCTGC	0.692000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	26					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694932	247694932	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247694932C>T	ENST00000366487.3	-	2	1243	c.882G>A	c.(880-882)agG>agA	p.R294R	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCTCCGTGTTCCTCAGGGTGT	0.547000													35	55					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185039047	185039047	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:185039047G>A	ENST00000296741.2	-	4	681	c.540C>T	c.(538-540)ggC>ggT	p.G180G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	180					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGTCGGCCCGGCCACTCCTGG	0.617000													15	31					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565289	58565289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:58565289G>A	ENST00000282326.1	+	6	1344	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	366					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCAGGGATGGAGCCCAGGGC	0.662000													23	28					0	0	1	0	0
PHF10	55274	broad.mit.edu	37	6	170110429	170110429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:170110429G>A	ENST00000339209.4	-	9	1139	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	PHF10_ENST00000366780.4_Missense_Mutation_p.S337F	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	339					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TCCCTGGAAAGAGTCCTCCTG	0.458000													38	38					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90381983	90381983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:90381983G>A	ENST00000369393.3	-	82	13845	c.13730C>T	c.(13729-13731)gCc>gTc	p.A4577V	MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Missense_Mutation_p.A4577V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4577					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCGGAGATGGCAGAAATTAT	0.468000													65	41					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271759	22271759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22271759G>A	ENST00000594947.1	+	4	1351	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTACAAATGTGATGAATATTG	0.388000													11	9					0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31211796	31211796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:31211796C>T	ENST00000294507.3	-	5	575	c.501G>A	c.(499-501)atG>atA	p.M167I		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	167					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGTGGTTCATGGACTTGA	0.552000													17	19					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	237028857	237028857	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:237028857C>T	ENST00000409538.1	+	16	3268	c.2772C>T	c.(2770-2772)atC>atT	p.I924I	AGAP1_ENST00000336665.5_Silent_p.I659I|AGAP1_ENST00000304032.7_Silent_p.I712I|AGAP1_ENST00000428334.2_Silent_p.I551I			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	712					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACGGTGGATCCGTGCCAAGT	0.667000													66	54					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40589724	40589724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:40589724G>A	ENST00000260402.3	-	13	1570	c.1321C>T	c.(1321-1323)Cca>Tca	p.P441S	PLCB2_ENST00000557821.1_Missense_Mutation_p.P441S|PLCB2_ENST00000456256.2_Missense_Mutation_p.P441S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	441	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCACTCACTGGGAACTTTTCC	0.597000													65	63					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40844654	40844654	+	Nonsense_Mutation	SNP	C	C	T	rs144659252		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40844654C>T	ENST00000264638.4	+	17	2885	c.2668C>T	c.(2668-2670)Cga>Tga	p.R890*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	890	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGCCCGGCTCCGAGTGGATCA	0.572000													110	128					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72736948	72736948	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:72736948C>T	ENST00000392610.1	+	2	176	c.135C>T	c.(133-135)ttC>ttT	p.F45F	RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Silent_p.F50F|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000528438.1_Silent_p.F18F|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392613.5_Silent_p.F45F			Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	45					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AAACATGTTTCCTGATCCAAT	0.572000													191	292					0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62380861	62380861	+	Silent	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62380861C>A	ENST00000278833.3	+	1	649	c.108C>A	c.(106-108)ctC>ctA	p.L36L	ROM1_ENST00000534093.1_Intron	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	36					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCGTCATCCTCCTCTGTAGTG	0.687000													14	17					1.64113e-05	1.65242e-05	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88423659	88423659	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:88423659C>A	ENST00000394480.1	-	18	2455	c.2133_splice	c.e18-1	p.V712_splice	NTRK3_ENST00000357724.2_Splice_Site_p.V718_splice|NTRK3_ENST00000355254.2_Splice_Site_p.V712_splice|NTRK3_ENST00000557856.1_Splice_Site_p.V704_splice|NTRK3_ENST00000360948.2_Splice_Site_p.V726_splice	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	726	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTCCTCCCACCTAAAAGGGG	0.502000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			17	30					2.32416e-17	2.36079e-17	1	1	0
CFB	629	broad.mit.edu	37	6	31896607	31896607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31896607G>A	ENST00000477310.1	+	3	384	c.355G>A	c.(355-357)Gat>Aat	p.D119N	C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.D119N|C2_ENST00000299367.5_Missense_Mutation_p.D119N			P00751	CFAB_HUMAN	complement factor B	133	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGAGTGTGAGGATGGCTTCAT	0.577000													100	125					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308161	72308161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:72308161G>A	ENST00000579490.1	+	11	1820	c.1685G>A	c.(1684-1686)cGg>cAg	p.R562Q	DNAI2_ENST00000311014.6_Missense_Mutation_p.R505Q|DNAI2_ENST00000582036.1_Missense_Mutation_p.R493Q|DNAI2_ENST00000446837.2_Missense_Mutation_p.R505Q|DNAI2_ENST00000307504.5_Missense_Mutation_p.R362Q			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	505					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGTGAGACCCGGCGAGAGAAG	0.662000									Kartagener syndrome				34	61					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995794	143995794	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:143995794G>A	ENST00000323110.2	-	5	842	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	280					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GAGGGCGGTTGAAGGCCAGTT	0.547000									Familial Hyperaldosteronism type I				14	33					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76462806	76462806	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:76462806G>A	ENST00000389840.5	-	56	8953	c.8829C>T	c.(8827-8829)ttC>ttT	p.F2943F	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.F2952F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCACTCGTGGAACCAGTCGA	0.627000													42	50					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231339757	231339757	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:231339757G>T	ENST00000444294.3	+	6	2531	c.1674_splice	c.e6+1	p.R558_splice	TRIM67_ENST00000366652.2_Splice_Site_p.R560_splice|TRIM67_ENST00000366653.5_Splice_Site_p.R560_splice|TRIM67_ENST00000449018.3_Splice_Site_p.R498_splice	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	560	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGACAGTTCCGGGTGAGGCCT	0.632000													54	38					1.931e-44	1.98903e-44	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40424134	40424134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40424134G>A	ENST00000221347.6	-	4	2076	c.2069C>T	c.(2068-2070)aCc>aTc	p.T690I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	690	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGTCCAGGGTGTCATGGCA	0.652000													182	204					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672023	30672023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30672023G>A	ENST00000376406.3	-	10	5584	c.4937C>T	c.(4936-4938)tCt>tTt	p.S1646F	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1382F	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1646					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGTCTTGACAGAGGACCTATT	0.577000								Other conserved DNA damage response genes					100	143					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55780074	55780074	+	Silent	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:55780074A>G	ENST00000373965.2	-	21	3044	c.2650T>C	c.(2650-2652)Tta>Cta	p.L884L	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.L488L|PCDH15_ENST00000320301.6_Silent_p.L877L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.L806L|PCDH15_ENST00000395445.1_Silent_p.L884L|PCDH15_ENST00000395430.1_Silent_p.L877L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.L877L|PCDH15_ENST00000361849.3_Silent_p.L877L|PCDH15_ENST00000373955.1_Silent_p.L877L|PCDH15_ENST00000395433.1_Silent_p.L855L|PCDH15_ENST00000414778.1_Silent_p.L882L|PCDH15_ENST00000395432.2_Silent_p.L840L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	877	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAACTCCTTAAAAGCGATAGT	0.413000										HNSCC(58;0.16)			29	67					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39734710	39734710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:39734710C>T	ENST00000413851.2	-	3	384	c.346G>A	c.(346-348)Ggg>Agg	p.G116R		NM_172139.2	NP_742151.2			interferon, lambda 3																		AAGACATCCCCCAGGGCTGGG	0.662000													115	111					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91630434	91630434	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:91630434C>T	ENST00000359028.2	+	9	1464	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	AKAP9_ENST00000356239.3_Silent_p.V401V|AKAP9_ENST00000358100.2_Silent_p.V413V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	413	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGGGACAGTCGAAGAACTTC	0.343000			T	BRAF	papillary thyroid								29	26					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81791162	81791162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:81791162C>T	ENST00000358105.3	+	4	398	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	C4orf22_ENST00000508675.1_Missense_Mutation_p.R134C	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	117								p.R117C(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GATCTTTATTCGTGACAGAAA	0.358000													30	46					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557226	157557226	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:157557226G>A	ENST00000271532.1	-	5	822	c.687C>T	c.(685-687)ttC>ttT	p.F229F	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	229	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CATCTCTGAAGAAGTTGAAGT	0.527000													159	134					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269669	185269669	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:185269669C>A	ENST00000367498.3	-	11	1764	c.1142G>T	c.(1141-1143)tGt>tTt	p.C381F	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.C163F	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	381					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGTTCGAAGACATTCCTCTCT	0.388000													27	74					2.75727e-19	2.80604e-19	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179380307	179380307	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:179380307A>C	ENST00000367618.3	+	12	1523	c.1136A>C	c.(1135-1137)tAt>tCt	p.Y379S	AXDND1_ENST00000457238.2_Missense_Mutation_p.Y379S|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	379										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CATGACTTATATACATTACAA	0.289000													53	52					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128368934	128368934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:128368934G>A	ENST00000262462.4	+	10	2829	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	SLC27A6_ENST00000395266.1_Missense_Mutation_p.E607K|SLC27A6_ENST00000506176.1_Missense_Mutation_p.E607K			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	607					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACTGACCAGGGAACTTTATGA	0.338000													13	3					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834809	125834809	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:125834809G>A	ENST00000299308.3	+	2	872	c.864G>A	c.(862-864)ctG>ctA	p.L288L		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	288						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGGTACCTCTGAATCTAGTCC	0.547000													247	163					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23428959	23428959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:23428959C>T	ENST00000519973.1	+	4	806	c.608C>T	c.(607-609)aCg>aTg	p.T203M		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	203					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		AGCTACACCACGCAGCTGACC	0.602000													60	60					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170828642	170828642	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:170828642C>T	ENST00000436636.2	-	19	2489	c.2145G>A	c.(2143-2145)gaG>gaA	p.E715E	TNIK_ENST00000357327.5_Silent_p.E686E|TNIK_ENST00000284483.8_Silent_p.E715E|TNIK_ENST00000341852.6_Silent_p.E631E|TNIK_ENST00000369326.5_Silent_p.E686E|TNIK_ENST00000538048.1_Silent_p.E660E|TNIK_ENST00000488470.1_Silent_p.E660E|TNIK_ENST00000470834.1_Silent_p.E686E|TNIK_ENST00000460047.1_Silent_p.E660E|TNIK_ENST00000475336.1_Silent_p.E631E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	715	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCAAGATGGGCTCAGTTCTCC	0.572000													4	20					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61585313	61585313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:61585313G>A	ENST00000238508.3	+	4	408	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GATATATGGAGAGAAAACGTA	0.353000													12	33					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003999	57003999	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:57003999C>T	ENST00000606794.1	-	1	676	c.480G>A	c.(478-480)ctG>ctA	p.L160L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	160						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGGCATGGCCAGGAGGGCGG	0.637000													25	56					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308740	140308740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140308740C>T	ENST00000253807.2	+	1	2263	c.2263C>T	c.(2263-2265)Ctc>Ttc	p.L755F	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L755F|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGACTTATCTCTATCGGGC	0.473000													74	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463960	179463960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179463960C>T	ENST00000589042.1	-	290	56784	c.56560G>A	c.(56560-56562)Gaa>Aaa	p.E18854K	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9981K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9914K|TTN_ENST00000342992.6_Missense_Mutation_p.E16286K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9789K|TTN_ENST00000591111.1_Missense_Mutation_p.E17213K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17213	Ig-like 107.						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)			AATACATATTCATGGCCTTCT	0.428000													77	103					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9836604	9836604	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:9836604C>T	ENST00000506583.1	-	13	1450	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	SLC2A9_ENST00000264784.3_Silent_p.E440E|SLC2A9_ENST00000309065.3_Silent_p.E411E			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	440					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCTGGAAGAACTCACCAGTCA	0.532000													53	73					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777424	123777424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:123777424G>A	ENST00000321355.2	+	1	316	c.286G>A	c.(286-288)Gga>Aga	p.G96R		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCCTATTCTGGATGCATGAT	0.428000													99	121					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253509	65253509	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:65253509C>T	ENST00000389722.3	-	15	3227	c.3174G>A	c.(3172-3174)ggG>ggA	p.G1058G	SPTB_ENST00000542895.1_Silent_p.G1058G|SPTB_ENST00000389720.3_Silent_p.G1058G|SPTB_ENST00000389721.5_Silent_p.G1058G|SPTB_ENST00000556626.1_Silent_p.G1058G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1058					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGCTGACTTCCCCCAGCAAGT	0.602000													56	45					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840587	36840587	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:36840587C>T	ENST00000557188.1	+	0	218																											TTCAAAGATCCAGGAGAAGCT	0.448000													3	16					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14839148	14839148	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:14839148C>T	ENST00000261170.3	-	3	478	c.342G>A	c.(340-342)cgG>cgA	p.R114R	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	114			R -> Q (in dbSNP:rs56275235).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CACAGCCCATCCGTTGTGCAT	0.438000													21	33					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:46914959T>C	ENST00000307522.3	-	1	1882	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCTGGGGCCTCTGCCCTCTG	0.607000													5	374					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942595	154942595	+	Silent	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:154942595G>C	ENST00000448116.2	-	1	628	c.408C>G	c.(406-408)cgC>cgG	p.R136R	SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Silent_p.R26R|SHC1_ENST00000368450.1_Silent_p.R26R|SHC1_ENST00000368445.5_Silent_p.R136R|SHC1_ENST00000606391.1_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	136					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCTCCCGTGGCGGGTCCACT	0.647000													54	81					0	0	1	0	0
RAB21	23011	broad.mit.edu	37	12	72148967	72148967	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:72148967T>G	ENST00000261263.3	+	1	314	c.58T>G	c.(58-60)Ttc>Gtc	p.F20V		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	20					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						AGCCTACTCGTTCAAGGTGGT	0.716000													4	152					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659657	39659657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:39659657G>A	ENST00000246635.3	-	3	663	c.617C>T	c.(616-618)gCc>gTc	p.A206V	KRT13_ENST00000336861.3_Missense_Mutation_p.A206V|KRT13_ENST00000587544.1_Missense_Mutation_p.A206V	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	206	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GTTGATGTCGGCCTCCACGCT	0.468000													35	83					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75585546	75585546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:75585546G>A	ENST00000238616.5	-	5	775	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	206	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTCAGCCATGGAATACTCAGA	0.328000													33	6					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254603	3254603	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:3254603C>T	ENST00000304646.2	+	1	357	c.357C>T	c.(355-357)gcC>gcT	p.A119A	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTGTGATGGCCTATGACCACT	0.502000													171	31					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825827	52825827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52825827C>T	ENST00000595962.1	+	5	1390	c.1324C>T	c.(1324-1326)Ctt>Ttt	p.L442F	ZNF480_ENST00000335090.6_Missense_Mutation_p.L365F|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Missense_Mutation_p.L399F|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTATTCAGGCCTTTCAGCCCA	0.393000													61	107					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8020163	8020163	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:8020163T>G	ENST00000380149.1	-	2	781	c.751A>C	c.(751-753)Agt>Cgt	p.S251R	ALOXE3_ENST00000318227.3_Missense_Mutation_p.S227R|ALOXE3_ENST00000448843.2_Missense_Mutation_p.S95R			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	95	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TGGGATACACTACCATCCGGT	0.567000													37	159					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287704	46287704	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:46287704C>T	ENST00000378966.3	+	2	852	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	SPERT_ENST00000310521.1_Silent_p.L182L			Q8NA61	SPERT_HUMAN	spermatid associated	182						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GAACAAGGCCCTGCGCGAGGA	0.627000													80	98					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153035694	153035694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:153035694C>T	ENST00000538966.1	+	9	2117	c.1846C>T	c.(1846-1848)Cca>Tca	p.P616S	PLXNB3_ENST00000538543.1_Missense_Mutation_p.P143S|PLXNB3_ENST00000361971.5_Missense_Mutation_p.P593S|PLXNB3_ENST00000538282.1_Missense_Mutation_p.P203S|PLXNB3_ENST00000538776.1_Missense_Mutation_p.P246S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	593					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTAACCCTCCAGGCACAGG	0.637000													66	6					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111137338	111137338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:111137338G>A	ENST00000360467.5	+	33	3295	c.2989G>A	c.(2989-2991)Ggg>Agg	p.G997R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	997	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGAGATGAAGGGCCTATGGG	0.617000													5	42					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790485	133790485	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:133790485G>A	ENST00000321016.8	-	18	3365	c.3135C>T	c.(3133-3135)ttC>ttT	p.F1045F	IGSF9B_ENST00000533871.2_Silent_p.F1045F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1045	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCCGAAGGGGAATTCTGGCC	0.662000													91	106					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699601	67699601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:67699601C>T	ENST00000545606.1	+	10	2590	c.2153C>T	c.(2152-2154)aCt>aTt	p.T718I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	718					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTCTTACCACTTTGGCAAAA	0.433000													57	436					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921760	130921760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:130921760C>T	ENST00000261655.4	-	10	1845	c.1682G>A	c.(1681-1683)gGc>gAc	p.G561D	RIMBP2_ENST00000535703.1_Missense_Mutation_p.G469D|RIMBP2_ENST00000536002.1_Missense_Mutation_p.G469D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	561	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACGGTCACGCCCTTGGCCTC	0.687000													11	2					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897927	36897927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:36897927C>T	ENST00000301807.6	-	12	3401	c.1504G>A	c.(1504-1506)Gtt>Att	p.V502I	TRANK1_ENST00000428977.2_Missense_Mutation_p.V502I|TRANK1_ENST00000429976.2_Missense_Mutation_p.V1052I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1052					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.V502I(2)|p.V1052I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCCAGTAAACGTGGAATTTC	0.532000													9	11					0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206681268	206681268	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:206681268G>A	ENST00000338603.2	+	1	390	c.333G>A	c.(331-333)caG>caA	p.Q111Q	RASSF5_ENST00000355294.4_Silent_p.Q111Q|RASSF5_ENST00000367117.3_Silent_p.Q111Q	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	111					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCAGCCGCAGGATCCCAGAG	0.746000													4	5					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285489	48285489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:48285489C>T	ENST00000320048.1	+	1	77	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S26Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AGGGTCATTTCTGTGATGTTT	0.463000													32	37					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26676320	26676320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:26676320G>A	ENST00000288710.2	+	14	1896	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		aggggagaaggaagaagagga	0.572000													9	36					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56599282	56599282	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:56599282C>T	ENST00000426861.1	-	6	872	c.786G>A	c.(784-786)aaG>aaA	p.K262K	SEPT4_ENST00000393086.1_Intron|SEPT4_ENST00000583114.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000580809.1_Silent_p.K163K|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000457347.2_Intron|SEPT4_ENST00000412945.3_Intron|SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000317268.3_Intron	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	0					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCTGTTCCCTTGACAGCAC	0.597000													51	70					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197881	204197881	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:204197881T>C	ENST00000272203.3	-	20	3176	c.2860A>G	c.(2860-2862)Atc>Gtc	p.I954V	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.I974V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	954										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGTGTCTTGATCCTCTCCACC	0.547000													36	71					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16111229	16111229	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:16111229C>T	ENST00000428559.2	+	3	449	c.237C>T	c.(235-237)atC>atT	p.I79I	DERA_ENST00000532964.1_Silent_p.I79I|DERA_ENST00000526530.1_5'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	79					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				AATACCCAATCCGGGAAGATC	0.358000													11	7					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41265055	41265055	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:41265055G>C	ENST00000357137.4	+	2	201	c.117G>C	c.(115-117)agG>agC	p.R39S	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R16S|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.R39S|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.R39S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	39					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TCCCAGAAAGGAGGATTCCAA	0.458000													99	82					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47985697	47985697	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:47985697C>T	ENST00000318711.7	+	36	4422	c.4239C>T	c.(4237-4239)gaC>gaT	p.D1413D	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Silent_p.D1412D|DIP2A_ENST00000400274.1_Silent_p.D1408D	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1412					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTCATGCCGACCACTTCAGTG	0.587000													38	86					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10215381	10215381	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:10215381A>G	ENST00000418404.3	-	31	4541	c.4378T>C	c.(4378-4380)Tgg>Cgg	p.W1460R	MYH13_ENST00000570743.1_Missense_Mutation_p.W1460R|MYH13_ENST00000252172.4_Missense_Mutation_p.W1460R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1460					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTTGCTTCCACTCTGCAAGG	0.507000													19	40					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207787770	207787770	+	Silent	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:207787770T>C	ENST00000367049.4	+	40	6597	c.6597T>C	c.(6595-6597)tcT>tcC	p.S2199S	CR1_ENST00000367053.1_Silent_p.S1749S|CR1_ENST00000400960.2_Silent_p.S1749S|CR1_ENST00000367052.1_Silent_p.S1749S|CR1_ENST00000367051.1_Silent_p.S1749S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1749					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAGGCAGGTCTGCTAGTCATT	0.423000													7	87					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135079073	135079073	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:135079073G>A	ENST00000428680.2	-	10	1494	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	CNOT4_ENST00000423368.2_Silent_p.F408F|CNOT4_ENST00000315544.5_Silent_p.F408F|CNOT4_ENST00000451834.1_Silent_p.F405F|CNOT4_ENST00000414802.1_Silent_p.F408F|CNOT4_ENST00000356162.4_Silent_p.F408F|CNOT4_ENST00000361528.4_Silent_p.F405F|CNOT4_ENST00000541284.1_Silent_p.F408F	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	408					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAGTGACATCGAAGGGATCAA	0.468000													61	56					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643672	94643672	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:94643672C>T	ENST00000260526.6	-	21	2714	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	844	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTCCAAATATCACCCCCAAGT	0.423000													72	46					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949594	45949594	+	Silent	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:45949594G>T	ENST00000531526.1	+	12	1839	c.1728G>T	c.(1726-1728)ctG>ctT	p.L576L	GYLTL1B_ENST00000401752.1_Silent_p.L576L|GYLTL1B_ENST00000529052.1_Silent_p.L545L|GYLTL1B_ENST00000325468.5_Silent_p.L576L|GYLTL1B_ENST00000536139.1_Silent_p.L545L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	576					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGGCCTTGCTGGATGCGGGCA	0.632000													43	73					1.11015e-26	1.13408e-26	1	1	0
GTF2B	2959	broad.mit.edu	37	1	89329731	89329731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:89329731G>A	ENST00000370500.5	-	3	309	c.191C>T	c.(190-192)cCa>cTa	p.P64L	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	64					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		AACTCGAGATGGATCTTTTGT	0.398000													28	92					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224716	77224716	+	Silent	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:77224716G>T	ENST00000458128.1	-	1	419	c.420C>A	c.(418-420)cgC>cgA	p.R140R	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	140					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CTGCATACCTGCGATCCTTAC	0.527000													80	9					4.10028e-47	4.2262e-47	1	1	0
BAHCC1	57597	broad.mit.edu	37	17	79410078	79410078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:79410078C>T	ENST00000307745.7	+	9	1703	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F																								AAGCGCAAGTCCCTGGAGCTG	0.701000													43	73					0	0	1	0	0
UBE2H	7328	broad.mit.edu	37	7	129497352	129497352	+	Splice_Site	SNP	A	A	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:129497352A>C	ENST00000355621.3	-	5	690	c.298_splice	c.e5+1	p.Y99_splice	UBE2H_ENST00000473814.2_Intron	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	99					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CAAACTCACCATAGAGAGCTG	0.338000													33	73					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264888	48264888	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:48264888C>G	ENST00000225964.5	-	46	3498	c.3380G>C	c.(3379-3381)gGt>gCt	p.G1127A		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1127	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCTTGTTCACCAGGAGAGCC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						14	89					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395360	179395360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179395360C>T	ENST00000589042.1	-	358	106206	c.105982G>A	c.(105982-105984)Gaa>Aaa	p.E35328K	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26455K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26388K|TTN_ENST00000342992.6_Missense_Mutation_p.E32760K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26263K|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33687K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33687							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)			TGCCCATTTTCCTTCAGTTTC	0.388000													33	31					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064192	70064192	+	Missense_Mutation	SNP	C	C	T	rs142863825		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:70064192C>T	ENST00000370598.1	+	27	4348	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_ENST00000238918.8_Missense_Mutation_p.S382L|BAI3_ENST00000546190.1_Missense_Mutation_p.S140L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1176	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCGAGTTCGTTTCCTAAT	0.393000													35	63					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2458006	2458006	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:2458006G>A	ENST00000378466.3	-	1	33	c.21C>T	c.(19-21)agC>agT	p.S7S	PANK4_ENST00000435556.3_Silent_p.S7S	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	7					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCCGCTGCCGCTCGCTCCAC	0.592000													56	184					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440590	40440590	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:40440590G>A	ENST00000319592.4	-	4	1030	c.321C>T	c.(319-321)gaC>gaT	p.D107D	RBM47_ENST00000295971.7_Silent_p.D107D|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.D69D|RBM47_ENST00000381793.2_Silent_p.D107D|RBM47_ENST00000381795.6_Silent_p.D107D			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	107	RRM 1.					nucleus	nucleotide binding|RNA binding	p.D107D(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGTTCTTGCCGTCAAAGTCCA	0.647000													125	113					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811773	25811773	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:25811773C>T	ENST00000244527.4	-	10	1146	c.1030_splice	c.e10-1	p.G344_splice	SLC17A1_ENST00000476801.1_Splice_Site_p.G344_splice|SLC17A1_ENST00000427328.1_Splice_Site_p.G290_splice|SLC17A1_ENST00000468082.1_Splice_Site_p.G290_splice	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	344					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAGGAGAAATCCTGGGGAGTG	0.473000													35	45					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823716	47823716	+	Missense_Mutation	SNP	C	C	T	rs146163744		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:47823716C>T	ENST00000355085.3	+	2	704	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	228					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.R228R(1)|p.R228W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CATCCTGCTCCGGACGTGGAG	0.612000													116	137					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462576	66462576	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:66462576C>T	ENST00000404260.3	+	29	7886	c.7578C>T	c.(7576-7578)tcC>tcT	p.S2526S	MAST4_ENST00000403666.1_Silent_p.S2334S|MAST4_ENST00000261569.7_Silent_p.S2329S|MAST4_ENST00000405643.1_Silent_p.S2344S|MAST4_ENST00000403625.2_Silent_p.S2523S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2526						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCCTGCCCTCCTTCCGGGTCT	0.667000													10	12					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63188832	63188832	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:63188832G>A	ENST00000399298.3	-	4	825	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	TMEM26_ENST00000399293.1_Silent_p.L153L	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	153						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGCATTAACAGGAATGTCTGA	0.418000													15	44					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422233	47422233	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:47422233G>T	ENST00000404338.3	+	1	301	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	101					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TGAATTTATTGATGATCAGAC	0.468000													89	118					1.99536e-56	2.05927e-56	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137722	40137722	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:40137722G>A	ENST00000278198.2	-	2	2084	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	LRRC4C_ENST00000530763.1_Silent_p.L41L|LRRC4C_ENST00000528697.1_Silent_p.L41L|LRRC4C_ENST00000527150.1_Silent_p.L41L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	41					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCCGCACCAGACCAGCCACC	0.537000													15	13					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900458	123900458	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:123900458C>G	ENST00000431524.1	+	1	162	c.129C>G	c.(127-129)atC>atG	p.I43M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		ACCTCCTCATCCTGCTGGTGA	0.572000													7	204					0	0	1	0	0
SLC38A6	145389	broad.mit.edu	37	14	61497233	61497233	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:61497233C>T	ENST00000354886.2	+	6	638	c.474C>T	c.(472-474)gaC>gaT	p.D158D	SLC38A6_ENST00000267488.4_Silent_p.D158D|SLC38A6_ENST00000456840.2_Silent_p.D135D	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	158					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGACTGGAGACTATAGTAGGT	0.308000													11	41					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70350930	70350930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:70350930G>A	ENST00000305107.6	-	5	1352	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P300S|UGT2B4_ENST00000512583.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	436					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACTCACAAAGGATCATTAATT	0.378000													52	66					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208738	23208738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:23208738G>A	ENST00000300061.2	+	6	1210	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	356					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACCTCTATAGGAATGCACCTG	0.453000													39	7					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135000021	135000021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:135000021C>T	ENST00000304613.3	+	6	1190	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	KNDC1_ENST00000368572.2_Missense_Mutation_p.P390L|KNDC1_ENST00000368571.2_Missense_Mutation_p.P325L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	390					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTGGGGTGCCCGGCAGTCCA	0.697000													11	10					0	0	1	0	0
OGFOD3	79701	broad.mit.edu	37	17	80373289	80373289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:80373289G>A	ENST00000313056.5	-	2	440	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	OGFOD3_ENST00000329197.5_Missense_Mutation_p.H97Y	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		AACCTGCGGTGACTGTCGTAG	0.587000													82	302					0	0	1	0	0
UBE2Z	65264	broad.mit.edu	37	17	46990249	46990249	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:46990249C>T	ENST00000360943.5	+	3	579	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	148					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										GGGGTTTCTTCCTGTTCGTGT	0.488000													153	246					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187942	62187942	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:62187942T>C	ENST00000370098.3	+	2	1018	c.926T>C	c.(925-927)cTg>cCg	p.L309P	C20orf195_ENST00000370097.1_Missense_Mutation_p.L309P	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	309										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCGGAGCCCCTGGAGGGGCCC	0.512000													132	163					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080479	42080479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:42080479G>A	ENST00000400454.1	-	2	739	c.262C>T	c.(262-264)Cct>Tct	p.P88S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	88	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAGCTTGAAGGAGGGAAGGGG	0.498000													54	55					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135300379	135300379	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:135300379T>G	ENST00000367837.5	-	14	1831	c.1625A>C	c.(1624-1626)gAc>gCc	p.D542A	HBS1L_ENST00000367824.4_Missense_Mutation_p.D378A|HBS1L_ENST00000367826.2_Missense_Mutation_p.D500A|HBS1L_ENST00000527578.1_Missense_Mutation_p.D378A|HBS1L_ENST00000415177.2_Missense_Mutation_p.D477A|HBS1L_ENST00000445176.2_Missense_Mutation_p.D266A	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	542					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TGCCGCCCAGTCGACAGGTTC	0.428000													26	21					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41064604	41064604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:41064604C>T	ENST00000399564.4	-	5	880	c.430G>A	c.(430-432)Gat>Aat	p.D144N		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATCCTTTCATCCTCGGCCAGC	0.463000													19	41					0	0	1	0	0
HOGA1	112817	broad.mit.edu	37	10	99358907	99358907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:99358907G>A	ENST00000370646.4	+	3	763	c.402G>A	c.(400-402)atG>atA	p.M134I	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						ACGCGGCCATGGTGGTGACCC	0.612000													45	121					0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67432187	67432187	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:67432187G>A	ENST00000348579.2	-	8	1196	c.855C>T	c.(853-855)caC>caT	p.H285H		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	285						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GTGGTGGGCGGTGCTGCACGA	0.622000													76	143					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12865573	12865573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:12865573C>T	ENST00000549706.1	+	4	779	c.455C>T	c.(454-456)cCc>cTc	p.P152L	BEST2_ENST00000042931.1_Missense_Mutation_p.P152L|BEST2_ENST00000553030.1_Missense_Mutation_p.P152L			Q8NFU1	BEST2_HUMAN	bestrophin 2	152					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AAGCGCTTCCCCACCATAGAC	0.687000													8	10					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71528294	71528294	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:71528294G>A	ENST00000261413.5	-	7	606	c.567C>T	c.(565-567)tgC>tgT	p.C189C	MRPS27_ENST00000457646.4_Silent_p.C133C|MRPS27_ENST00000513900.1_Silent_p.C203C|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000515404.1_Silent_p.C133C	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	189						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TCTTTGCCAGGCAATGAAATA	0.418000													24	32					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835468	247835468	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247835468C>T	ENST00000359688.2	-	1	897	c.876G>A	c.(874-876)agG>agA	p.R292R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCTGCATCTCCCTATTCTGGA	0.438000													30	70					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183700571	183700571	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:183700571G>A	ENST00000334444.6	-	6	1056	c.816C>T	c.(814-816)tcC>tcT	p.S272S	ABCC5_ENST00000265586.6_Silent_p.S272S|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	272	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCACCCAGGGATTTCTCTT	0.488000													11	45					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407577	50407577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:50407577G>A	ENST00000217086.4	-	2	1556	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	482					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAGCCCTACAGAGGTGGTTAC	0.557000													124	155					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26698339	26698339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:26698339G>A	ENST00000272371.2	-	25	3140	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L	OTOF_ENST00000339598.3_Missense_Mutation_p.P258L|OTOF_ENST00000402415.3_Missense_Mutation_p.P315L|OTOF_ENST00000403946.3_Missense_Mutation_p.P1005L|OTOF_ENST00000338581.6_Missense_Mutation_p.P258L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1005	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCAGGTGGGACACAGGGT	0.557000													76	116					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357319	38357319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:38357319G>A	ENST00000379705.3	-	2	1009	c.152C>T	c.(151-153)tCc>tTc	p.S51F	TRPC4_ENST00000358477.2_Missense_Mutation_p.S51F|TRPC4_ENST00000426868.2_Missense_Mutation_p.S51F|TRPC4_ENST00000355779.2_Missense_Mutation_p.S51F|TRPC4_ENST00000379681.3_Missense_Mutation_p.S51F|TRPC4_ENST00000338947.5_Missense_Mutation_p.S51F|TRPC4_ENST00000379673.2_Missense_Mutation_p.S51F|TRPC4_ENST00000379679.1_Missense_Mutation_p.S51F|TRPC4_ENST00000447043.1_Missense_Mutation_p.S51F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	51					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCTCTAGGGATTTCTTGAC	0.388000													56	85					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477219	128477219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:128477219G>A	ENST00000322313.4	-	16	2538	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	794					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCAGGACCCTGGTTCTCCCGG	0.607000													22	36					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56469702	56469702	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:56469702T>C	ENST00000370754.5	-	39	9624	c.9625A>G	c.(9625-9627)Atc>Gtc	p.I3209V	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.I2705V|DST_ENST00000370769.4_Missense_Mutation_p.I3031V|DST_ENST00000312431.6_Missense_Mutation_p.I3031V|DST_ENST00000361203.3_Missense_Mutation_p.I3031V|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3031					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGCTTTGGATCATGTCATTA	0.363000													12	18					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836116	247836116	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247836116C>T	ENST00000359688.2	-	1	249	c.228G>A	c.(226-228)ccG>ccA	p.P76P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCAGCATCTTCGGTATGATGC	0.458000													14	24					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75147556	75147556	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:75147556C>T	ENST00000300051.4	-	8	1078	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	LDHD_ENST00000450168.2_Silent_p.E321E	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	344							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GCTGGACTATCTCCTCTGCAG	0.672000													59	13					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86115857	86115857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:86115857C>T	ENST00000383699.3	+	10	1766	c.1139C>T	c.(1138-1140)cCa>cTa	p.P380L	CADM2_ENST00000405615.2_Missense_Mutation_p.P413L|CADM2_ENST00000407528.2_Missense_Mutation_p.P411L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	411					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAAGATGCACCAGATGCTGAT	0.383000													20	59					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43623415	43623415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:43623415C>T	ENST00000360835.3	-	10	1298	c.1172G>A	c.(1171-1173)gGg>gAg	p.G391E		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	391	EGF-like 9; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GAGCCGCCTCCCCGGGGGACA	0.662000													32	12					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1979046	1979046	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:1979046G>A	ENST00000255641.8	+	6	1131	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	212	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGAGCCTGACGGGCACGG	0.687000													28	83					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129486	149129486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:149129486G>A	ENST00000247930.4	-	6	2200	c.1877C>T	c.(1876-1878)tCt>tTt	p.S626F		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCGCTACCAGAGCTGGGTGA	0.667000													91	205					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113673157	113673157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:113673157G>A	ENST00000330212.3	+	3	1071	c.772G>A	c.(772-774)Gag>Aag	p.E258K	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.E252K	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	258						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CAAAGCGAAGGAGGACTGGTG	0.582000													27	24					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703593	55703593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55703593G>A	ENST00000301532.3	-	1	283	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCATAATAGGAAATAGATTT	0.408000													7	14					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89082392	89082392	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:89082392C>T	ENST00000393525.3	+	0	526																											GAGAAAGATTCTGTTTCGAAT	0.343000													22	32					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169418	42169418	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:42169418C>A	ENST00000444063.1	+	18	2219	c.2087C>A	c.(2086-2088)aCa>aAa	p.T696K	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.T764K|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.T764K|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.T701K|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.T696K			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	696	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CAGACCCTGACAGGTTGTGAG	0.552000													31	41					3.78316e-11	3.82831e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179654825	179654825	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179654825C>T	ENST00000589042.1	-	12	2042	c.1818G>A	c.(1816-1818)agG>agA	p.R606R	TTN_ENST00000342175.6_Silent_p.R560R|TTN_ENST00000359218.5_Silent_p.R560R|TTN_ENST00000342992.6_Silent_p.R606R|TTN_ENST00000360870.5_Silent_p.R606R|TTN_ENST00000460472.2_Silent_p.R560R|TTN_ENST00000591111.1_Silent_p.R606R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	606							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)			CAACTGTTTTCCTAGTTTCCT	0.313000													21	29					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34022609	34022609	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:34022609G>A	ENST00000382499.2	-	23	3038	c.3039C>T	c.(3037-3039)atC>atT	p.I1013I	SYNJ1_ENST00000357345.3_Silent_p.I974I|SYNJ1_ENST00000433931.2_Silent_p.I1013I|SYNJ1_ENST00000382491.3_Silent_p.I969I|SYNJ1_ENST00000322229.7_Silent_p.I974I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	974	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCAAATTTTTGATCCAGTCTG	0.348000													42	126					0	0	1	0	0
SNRNP40	9410	broad.mit.edu	37	1	31762188	31762188	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:31762188C>T	ENST00000263694.4	-	4	462	c.444G>A	c.(442-444)aaG>aaA	p.K148K	SNRNP40_ENST00000446633.2_Silent_p.K148K	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	148						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AAGTATGTCCCTTTAGCCTTT	0.458000													169	102					0	0	1	0	0
SP5	389058	broad.mit.edu	37	2	171572829	171572829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:171572829G>A	ENST00000375281.3	+	2	274	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	SP5_ENST00000487037.1_3'UTR	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						ATTGCTGGCCGCCACCTGTAG	0.726000													4	111					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10702984	10702984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:10702984G>A	ENST00000377022.3	-	20	4411	c.4094C>T	c.(4093-4095)tCc>tTc	p.S1365F	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGACTCAGAGGACATGGCGCC	0.667000													38	20					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466668	57466668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:57466668C>T	ENST00000287169.3	+	11	3122	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S534L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	587						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AGTTCCTCCTCAGATGATTCA	0.612000													110	137					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104160128	104160128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:104160128G>A	ENST00000369966.3	+	16	1928	c.1678G>A	c.(1678-1680)Gga>Aga	p.G560R	NFKB2_ENST00000189444.6_Missense_Mutation_p.G560R|NFKB2_ENST00000428099.1_Missense_Mutation_p.G560R	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	560					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GGATCGGCATGGAGACTCAGC	0.652000			T	IGH@	B-NHL								36	79					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217200	21217200	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:21217200C>T	ENST00000380216.1	-	1	110	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	35					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCAAGGCCCTCCTATTACCCA	0.507000													66	19					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347291	48347291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:48347291G>A	ENST00000319856.4	+	1	820	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CACCTGTGGAGCCCACTTCAT	0.438000													46	86					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750006	30750006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:30750006C>T	ENST00000262518.4	+	34	9030	c.8645C>T	c.(8644-8646)tCa>tTa	p.S2882L	SRCAP_ENST00000344771.4_Missense_Mutation_p.S2724L|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2820L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2882	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGGCACCCTCATCCACCTTG	0.587000													40	5					0	0	1	0	0
HSH2D	84941	broad.mit.edu	37	19	16268289	16268289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16268289G>A	ENST00000253680.6	+	9	1274	c.743G>A	c.(742-744)gGa>gAa	p.G248E	HSH2D_ENST00000397372.4_Missense_Mutation_p.G158E|HSH2D_ENST00000593154.2_Silent_p.R248R|HSH2D_ENST00000588246.1_Silent_p.R248R			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	248						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCTGGGACCGGAAAAGGCAGC	0.597000													46	142					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98257818	98257818	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:98257818C>T	ENST00000265634.3	+	5	1338	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	391	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTCAACATCGCCAACTGCT	0.577000													14	18					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170717	113170717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:113170717G>A	ENST00000401783.2	-	38	7499	c.7163C>T	c.(7162-7164)tCc>tTc	p.S2388F	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2365F|SVEP1_ENST00000297826.5_Missense_Mutation_p.S314F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2388	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACACCAAAGGAAATTAGGGG	0.458000													23	6					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39826491	39826491	+	Missense_Mutation	SNP	C	C	T	rs138693822	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:39826491C>T	ENST00000564288.1	+	48	13048	c.12271C>T	c.(12271-12273)Ctc>Ttc	p.L4091F	MACF1_ENST00000372915.3_Missense_Mutation_p.L4096F|MACF1_ENST00000545844.1_Missense_Mutation_p.L2029F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.L2531F|MACF1_ENST00000567887.1_Missense_Mutation_p.L4128F|MACF1_ENST00000539005.1_Missense_Mutation_p.L2029F|MACF1_ENST00000317713.7_Missense_Mutation_p.L2029F|MACF1_ENST00000361689.2_Missense_Mutation_p.L2029F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4096					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTCCAAAGCCTCTCCTATAG	0.423000													10	49					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20848605	20848605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:20848605G>A	ENST00000262715.5	-	34	4832	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.L1490F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1598					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCTCGGGGAGCTTTTGTTCC	0.572000													48	27					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118948832	118948832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:118948832G>A	ENST00000467604.1	-	3	506	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	B4GALT4_ENST00000460321.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Nonsense_Mutation_p.Q39*|B4GALT4_ENST00000483209.1_Nonsense_Mutation_p.Q39*|B4GALT4_ENST00000471675.1_5'UTR|B4GALT4_ENST00000393765.2_Nonsense_Mutation_p.Q39*			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	39					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGAATCTCTTGAATGGCACCC	0.453000													54	33					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10360752	10360752	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:10360752G>C	ENST00000255381.2	-	16	1992	c.1882C>G	c.(1882-1884)Caa>Gaa	p.Q628E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	628	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGCAGTTTGTGCCCCAGAG	0.443000													3	61					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70546163	70546163	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:70546163G>A	ENST00000323786.5	-	5	738	c.717C>T	c.(715-717)ttC>ttT	p.F239F	COG4_ENST00000393612.4_Silent_p.F235F	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	235					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GGTACTCCGAGAACTTTCTTA	0.517000													45	5					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293505	94293505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:94293505C>T	ENST00000482108.1	+	2	1116	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	PEG10_ENST00000488574.1_Missense_Mutation_p.H213Y	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	213	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTCAGCGACCACATTCAGGA	0.577000													53	154					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453000													4	73					0	0	1	0	0
GTF2B	2959	broad.mit.edu	37	1	89329732	89329732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:89329732G>A	ENST00000370500.5	-	3	308	c.190C>T	c.(190-192)Cca>Tca	p.P64S	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	64					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		ACTCGAGATGGATCTTTTGTT	0.398000													27	92					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060904	9060904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9060904C>T	ENST00000397910.4	-	3	26745	c.26542G>A	c.(26542-26544)Gaa>Aaa	p.E8848K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8850	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTTTTTTCCACTGATGGG	0.512000													78	98					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616437	248616437	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248616437C>T	ENST00000342927.3	+	1	361	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			GAGGGGAATTCTTCCTGCTGG	0.542000													32	142					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211459	45211459	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:45211459C>T	ENST00000587331.1	+	6	1482	c.1267_splice	c.e6+1	p.P423_splice	CEACAM16_ENST00000405314.2_Splice_Site_p.P423_splice|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	423										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCAGGTGGCCCGTGAGTGTGT	0.582000													5	12					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899048	205899048	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:205899048G>C	ENST00000367135.3	-	6	802	c.689C>G	c.(688-690)tCc>tGc	p.S230C	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S230C|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S230C	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	230						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCCTGTGTAGGAGGGGATGGT	0.567000													47	55					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770925	145770925	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145770925G>A	ENST00000276826.5	-	5	2430	c.2229C>T	c.(2227-2229)gcC>gcT	p.A743A	ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Silent_p.A743A|ARHGAP39_ENST00000540274.1_Silent_p.A743A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	743	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGAGCTCGCAGGCCTCCTTCT	0.637000													24	60					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	232010954	232010954	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:232010954G>A	ENST00000308696.6	+	18	2161	c.1998_splice	c.e18-1	p.E667_splice	PSMD1_ENST00000409643.1_Splice_Site_p.E667_splice|PSMD1_ENST00000373635.4_Splice_Site_p.E667_splice	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	667					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATTCTTTCAGGAAGCCATTAA	0.398000													23	32					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414446	105414446	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:105414446T>C	ENST00000333244.5	-	7	7461	c.7342A>G	c.(7342-7344)Agc>Ggc	p.S2448G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2448						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCACGCTGGGCTGAGAC	0.632000													12	244					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651051	96651051	+	Missense_Mutation	SNP	G	G	A	rs146406553		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:96651051G>A	ENST00000302103.5	+	3	346	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	7					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.G7E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACATCCAAAGGAATTCTTCGC	0.388000													56	55					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7295772	7295772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:7295772C>T	ENST00000537408.1	+	11	2286	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	CLSTN3_ENST00000266546.6_Missense_Mutation_p.P571L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	571					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CACGTGAACCCCTCACAGTCC	0.617000													102	146					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255178	51255178	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:51255178G>A	ENST00000404971.1	-	2	1573	c.234C>T	c.(232-234)ttC>ttT	p.F78F	NRXN1_ENST00000406859.3_Silent_p.F78F|NRXN1_ENST00000402717.3_Silent_p.F78F|NRXN1_ENST00000405472.3_Silent_p.F78F|NRXN1_ENST00000405581.1_Silent_p.F78F|NRXN1_ENST00000406316.2_Silent_p.F78F|NRXN1_ENST00000401669.2_Silent_p.F78F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	78	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCAGCTCCAGGAAGTCGCAGA	0.652000													15	18					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112687117	112687117	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:112687117G>A	ENST00000295408.4	+	2	739	c.482_splice	c.e2+1	p.S161_splice	MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Splice_Site_p.S161_splice			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	161	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCTTCCTTCAGGTATGTGttc	0.343000													44	49					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103266681	103266681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:103266681G>A	ENST00000520539.1	-	59	8855	c.8249C>T	c.(8248-8250)cCc>cTc	p.P2750L	UBR5_ENST00000521922.1_Missense_Mutation_p.P2743L|UBR5_ENST00000518205.1_Missense_Mutation_p.P478L|UBR5_ENST00000220959.4_Missense_Mutation_p.P2749L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2750	HECT.|Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTGATTGAGGGCATAGGCTG	0.413000													54	44					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86659237	86659237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:86659237G>A	ENST00000456692.2	+	11	1110	c.995G>A	c.(994-996)aGc>aAc	p.S332N	RASA1_ENST00000506290.1_Missense_Mutation_p.S343N|RASA1_ENST00000512763.1_Missense_Mutation_p.S342N|RASA1_ENST00000274376.6_Missense_Mutation_p.S509N	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	509	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TATTTTGAAAGCGAAAAACGA	0.333000													25	31					0	0	1	0	0
CNPY1	285888	broad.mit.edu	37	7	155301711	155301711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:155301711C>T	ENST00000321736.5	-	2	184	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	CNPY1_ENST00000406197.1_Missense_Mutation_p.E8K	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	8										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACAGGGTCTTCCTCAAGCTTG	0.428000													51	46					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23270363	23270363	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:23270363C>T	ENST00000298032.5	+	9	1095	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	ARMC3_ENST00000409049.3_Silent_p.S337S|ARMC3_ENST00000376528.4_Silent_p.S74S|ARMC3_ENST00000409983.3_Silent_p.S337S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	337							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGCTGCTTCCCAAGCTATTT	0.353000													24	12					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949641	198949641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:198949641C>T	ENST00000428675.1	+	2	1798	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	PLCL1_ENST00000437704.2_Missense_Mutation_p.S369F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	467	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACCCATGTTTCCTTTCGAAGT	0.408000													8	30					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43414809	43414809	+	Missense_Mutation	SNP	A	A	G	rs140437421	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43414809A>G	ENST00000187910.2	-	3	694	c.629T>C	c.(628-630)aTt>aCt	p.I210T	PSG6_ENST00000402603.4_Missense_Mutation_p.I210T|PSG6_ENST00000292125.2_Missense_Mutation_p.I210T	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGGTCCTGCAATATACTTTGT	0.493000													59	318					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24475372	24475372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:24475372C>T	ENST00000230036.1	-	5	528	c.418G>A	c.(418-420)Gga>Aga	p.G140R	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	140						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTAAGGAATCCTTGTTCAAGG	0.463000													75	109					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031129	33031129	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:33031129T>A	ENST00000340811.4	-	3	793	c.685A>T	c.(685-687)Acc>Tcc	p.T229S	PKP2_ENST00000070846.6_Missense_Mutation_p.T229S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	229					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAAAAACGGTGTCGCTAACA	0.602000													29	82					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615354	179615354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179615354C>T	ENST00000360870.5	-	46	11995	c.11773G>A	c.(11773-11775)Gaa>Aaa	p.E3925K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9745							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)			ATGTTTTCTTCCTTCTGTTCG	0.338000													8	14					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3241730	3241730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:3241730C>T	ENST00000355072.5	+	67	9518	c.9373C>T	c.(9373-9375)Cca>Tca	p.P3125S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	3125					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCAGGAAGCCCATATCACCG	0.607000													8	18					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808333	8808333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:8808333C>T	ENST00000324436.3	-	1	839	c.719G>A	c.(718-720)gGc>gAc	p.G240D		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	240						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGGGGCAGGCCGGCCTGGAG	0.657000													62	73					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777825	110777825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:110777825C>T	ENST00000368919.3	-	2	515	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.R150Q|SLC22A16_ENST00000456137.2_Missense_Mutation_p.R150Q|SLC22A16_ENST00000330550.4_Missense_Mutation_p.R116Q	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	150					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AAGCCATTTTCGGTCACAGAC	0.448000													20	32					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72406574	72406574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:72406574G>A	ENST00000272427.6	-	22	2456	c.2326C>T	c.(2326-2328)Cgc>Tgc	p.R776C	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	776					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TTGTTCTTGCGGCTAGTATCC	0.483000													46	52					0	0	1	0	0
CHKA	1119	broad.mit.edu	37	11	67829480	67829480	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:67829480G>A	ENST00000265689.4	-	11	1280	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	CHKA_ENST00000356135.5_Silent_p.F400F	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	418					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	GTCCCCAGAGGAAATGAGATG	0.368000													9	11					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809918	5809918	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:5809918C>T	ENST00000317078.1	-	1	128	c.129G>A	c.(127-129)ggG>ggA	p.G43G	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43G(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCCGAAGTTCCCTGTAATAG	0.463000													23	33					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28519529	28519529	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:28519529G>A	ENST00000261609.7	-	7	816	c.708C>T	c.(706-708)ccC>ccT	p.P236P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	236					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCGAGGCCTCGGGAAGTGCTC	0.657000													24	31					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116941601	116941601	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:116941601C>T	ENST00000537345.1	+	17	2706	c.2343C>T	c.(2341-2343)acC>acT	p.T781T	ATP1A1_ENST00000369496.4_Silent_p.T750T|ATP1A1_ENST00000295598.5_Silent_p.T781T	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	781					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATACCTTAACCAGTAACATTC	0.413000													39	128					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100391745	100391745	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100391745G>A	ENST00000542585.1	+	0	8200				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTTCTAGCTGGGCAGCAGCTT	0.642000													26	19					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874293	24874293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:24874293G>A	ENST00000396432.2	-	26	5411	c.4925C>T	c.(4924-4926)cCc>cTc	p.P1642L		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1641	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGGAACACGGGAAACTCGCT	0.532000													37	43					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605181	142605181	+	Silent	SNP	C	C	T	rs148202641		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:142605181C>T	ENST00000370503.2	-	1	122	c.39G>A	c.(37-39)acG>acA	p.T13T		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	13										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCTCTTCGTCTTCTCCC	0.458000													91	11					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27308664	27308664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:27308664C>T	ENST00000317338.12	-	2	877	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SEZ6_ENST00000360295.9_Missense_Mutation_p.R150Q|SEZ6_ENST00000442608.3_Missense_Mutation_p.R150Q|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.R150Q			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	150	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGCTGTGATTCGAAGCATAGG	0.642000													22	8					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20403926	20403926	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:20403926T>A	ENST00000285600.4	+	1	160	c.101T>A	c.(100-102)gTc>gAc	p.V34D		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTCTCTATAGTCTATGTGACA	0.373000													78	59					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74319583	74319583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:74319583G>A	ENST00000395792.2	+	13	1854	c.1754G>A	c.(1753-1755)gGc>gAc	p.G585D	AFP_ENST00000226359.2_Missense_Mutation_p.G585D|AFP_ENST00000506820.1_3'UTR	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	585	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGCCAAGGCCAGGAACAG	0.418000									Alpha-Fetoprotein, Hereditary Persistence of				19	44					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239140630	239140630	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:239140630G>A	ENST00000456601.1	+	0	306																											CCAGTTTCCAGGGGCGTGTGG	0.542000													17	29					0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55913399	55913399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:55913399C>T	ENST00000371263.3	+	9	921	c.812C>T	c.(811-813)cCt>cTt	p.P271L	SPO11_ENST00000371260.4_Missense_Mutation_p.P229L|SPO11_ENST00000345868.4_Missense_Mutation_p.P233L	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	271					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TTTCATGTTCCTGTTTTCACT	0.323000								Editing and processing nucleases					32	38					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031532	38031532	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38031532T>A	ENST00000377940.3	+	6	807	c.668T>A	c.(667-669)tTt>tAt	p.F223Y	ZPBP2_ENST00000348931.4_Missense_Mutation_p.F245Y|ZPBP2_ENST00000584588.1_Missense_Mutation_p.F172Y	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	245					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAGACTTTTTTCGGAGCCAA	0.373000													29	26					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6031493	6031493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:6031493C>T	ENST00000409021.3	-	20	2844	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E614K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	570					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTTTGTCCTCCAGTTCTCGG	0.418000													6	6					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36179185	36179185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:36179185C>T	ENST00000357641.6	+	7	2583	c.2330C>T	c.(2329-2331)gCc>gTc	p.A777V	BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.A777V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	777					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GAGATCAATGCCCTTCGGCAG	0.642000													16	19					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8494734	8494734	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:8494734C>T	ENST00000447869.1	-	2	1233	c.315G>A	c.(313-315)agG>agA	p.R105R	STK33_ENST00000315204.1_Silent_p.R105R|STK33_ENST00000396673.1_Silent_p.R105R|STK33_ENST00000396672.1_Silent_p.R105R|STK33_ENST00000534493.1_Silent_p.R64R|STK33_ENST00000358872.3_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	105						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CATTCTCAATCCTTATGTGAG	0.403000													51	84					0	0	1	0	0
ADAT1	23536	broad.mit.edu	37	16	75651152	75651152	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:75651152G>A	ENST00000307921.3	-	6	457	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	104	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CTGCCAACTGGAGTTGGTGGA	0.458000													113	17					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156883768	156883768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156883768G>A	ENST00000338302.3	+	23	3063	c.2838G>A	c.(2836-2838)atG>atA	p.M946I	PEAR1_ENST00000292357.7_Missense_Mutation_p.M946I			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	946	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACATGGAGATGAAAGGCCCTC	0.657000													23	26					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35740805	35740805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:35740805C>T	ENST00000400441.3	-	21	2735	c.2736G>A	c.(2734-2736)tgG>tgA	p.W912*	MROH8_ENST00000441008.2_Nonsense_Mutation_p.W898*|MROH8_ENST00000217333.8_Nonsense_Mutation_p.W741*					maestro heat-like repeat family member 8																		GGGGCAGCTTCCACTTCAGGA	0.413000													36	28					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063559	9063559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9063559G>A	ENST00000397910.4	-	3	24090	c.23887C>T	c.(23887-23889)Ccc>Tcc	p.P7963S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7965	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGAAGGGGAGGGCTCATC	0.453000													23	23					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9580154	9580154	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:9580154C>T	ENST00000285199.6	+	5	1021	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	USP43_ENST00000570827.2_5'UTR|USP43_ENST00000575346.1_3'UTR|USP43_ENST00000570475.1_Silent_p.L309L	NM_153210.4	NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	309					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGTGGCAGCCCTGAGGAAGAT	0.562000													34	18					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363813	22363813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22363813G>A	ENST00000397121.2	-	3	1023	c.706C>T	c.(706-708)Cga>Tga	p.R236*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTGAGGATCGATTAAAAGCT	0.363000													18	107					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130106988	130106988	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:130106988C>T	ENST00000525842.1	-	5	1635	c.1267_splice	c.e5-1	p.G423_splice	ZBTB44_ENST00000530205.1_Splice_Site_p.G423_splice|ZBTB44_ENST00000357899.4_Splice_Site_p.G423_splice|ZBTB44_ENST00000397753.1_Splice_Site_p.G423_splice	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TGGTTTAATTCCTGTAAATAA	0.363000													40	55					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103467999	103467999	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:103467999C>T	ENST00000358392.2	-	23	2435	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G	COL11A1_ENST00000512756.1_Silent_p.G578G|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Silent_p.G655G|COL11A1_ENST00000370096.3_Silent_p.G694G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	694	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCTGGATTCCCTTGTTGAC	0.423000													5	11					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570124	136570124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:136570124C>T	ENST00000264162.2	-	7	2120	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	704	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCAATGGTATCATAGCTAGGG	0.552000													66	71					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62949984	62949984	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:62949984C>T	ENST00000561311.1	+	8	905	c.675C>T	c.(673-675)atC>atT	p.I225I	TLN2_ENST00000306829.6_Silent_p.I225I			Q9Y4G6	TLN2_HUMAN	talin 2	225	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGATGACATCCTGAATGGCT	0.498000													47	72					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522870	57522870	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:57522870C>T	ENST00000420713.1	+	3	370	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TAGCCAAACACCCAGGTAGGT	0.443000													37	33					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102668786	102668786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:102668786C>T	ENST00000315274.6	-	1	105	c.38G>A	c.(37-39)tGg>tAg	p.W13*	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	13					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CACCACACCCCAGAACAGCAG	0.498000													23	35					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684209	74684209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:74684209G>A	ENST00000334011.5	+	7	1392	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	392	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ATTCACTCTGGAGATCTTCAA	0.512000													30	78					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124335307	124335307	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:124335307C>T	ENST00000287394.5	-	27	4110		c.e27-1		ATAD2_ENST00000521903.1_Splice_Site	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCAAAAGATTCTAAAAGAAAA	0.333000													5	12					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628356	172628356	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:172628356C>T	ENST00000367721.2	+	1	199	c.15C>T	c.(13-15)ttC>ttT	p.F5F	FASLG_ENST00000340030.3_Silent_p.F5F	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	5	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						AGCAGCCCTTCAATTACCCAT	0.582000													43	59					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927366	43927366	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:43927366C>T	ENST00000282406.4	+	8	1379	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	423						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTAACTCACTCTCTGGAAAAG	0.443000													65	123					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370222	20370222	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:20370222C>T	ENST00000593655.1	-	0	199																											TGTGACTGTTCGATAAACTCC	0.413000													34	42					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27233234	27233234	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:27233234C>T	ENST00000332830.4	-	15	3792	c.2982G>A	c.(2980-2982)caG>caA	p.Q994Q	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	994					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCACAGGGCCCTGGTGGGGCT	0.587000													24	49					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49388759	49388759	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:49388759G>T	ENST00000221399.3	-	9	1151	c.1007C>A	c.(1006-1008)tCc>tAc	p.S336Y		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	336					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGGATCCAGGGAGATGAGGTA	0.517000													103	133					6.53543e-73	6.76209e-73	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207173679	207173679	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:207173679C>G	ENST00000374423.3	+	5	4813	c.4427C>G	c.(4426-4428)gCa>gGa	p.A1476G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1476							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TACAAAGAGGCAGACCTTCAG	0.373000													4	7					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21785991	21785991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:21785991G>A	ENST00000206660.6	+	10	1288	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E403K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E430K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E72K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E403K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	430					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGTTTTACTTGAGCTGTCCAG	0.502000													7	16					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19165058	19165058	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:19165058G>A	ENST00000535612.1	+	6	1383	c.951G>A	c.(949-951)ggG>ggA	p.G317G	ARMC6_ENST00000392336.3_Silent_p.G317G|ARMC6_ENST00000392335.2_Silent_p.G292G|ARMC6_ENST00000269932.6_Silent_p.G292G|ARMC6_ENST00000546344.1_Silent_p.G224G	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	317							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TCGACCTCGGGGGCCTGAGCA	0.622000											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	154					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196397274	196397274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:196397274C>T	ENST00000367433.5	-	10	1046	c.945G>A	c.(943-945)atG>atA	p.M315I	KCNT2_ENST00000294725.8_Missense_Mutation_p.M315I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.M315I|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	315						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTAAAAAATCCATAAGTAAAT	0.378000													8	29					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052520	52052520	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:52052520G>A	ENST00000340057.1	+	2	192	c.147G>A	c.(145-147)ctG>ctA	p.L49L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	49					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TGGTCAACCTGAACATCCATA	0.493000													60	84					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33466067	33466067	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:33466067A>G	ENST00000379471.2	-	18	2452		c.e18+1		NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Splice_Site			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)						rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CACCAGCCTAACCTTAAGGAC	0.622000													55	9					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85612913	85612913	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:85612913G>A	ENST00000322366.6	-	59	9431	c.9024C>T	c.(9022-9024)atC>atT	p.I3008I	WDFY3_ENST00000295888.4_Silent_p.I3025I			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3025						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGTACATACGATTTGTCCTA	0.373000													14	30					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	420825	420825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:420825G>A	ENST00000332826.6	-	18	1610	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	509						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCCGGACTCGGAGGCCCGCAG	0.711000													11	21					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32014232	32014232	+	Splice_Site	SNP	A	A	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:32014232A>T	ENST00000375244.3	-	31	10527	c.10324_splice	c.e31-1	p.A3442_splice	TNXB_ENST00000375247.2_Splice_Site_p.A3440_splice			P22105	TENX_HUMAN	tenascin XB	3487	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCCAGGGGAGCTGTGCAGA	0.637000													20	22					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125434442	125434442	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:125434442C>T	ENST00000284674.1	+	2	830	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	259					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCTATGTGATCACCAGGTGAG	0.567000													17	11					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83991323	83991323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:83991323C>T	ENST00000343939.2	+	3	679	c.296C>T	c.(295-297)cCc>cTc	p.P99L	OSGIN1_ENST00000565123.1_Missense_Mutation_p.P16L|OSGIN1_ENST00000361711.3_Missense_Mutation_p.P16L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.P16L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	99					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AGCTCAGAGCCCCTCCCGGTC	0.692000													18	2					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348031	38348031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38348031G>A	ENST00000273173.4	+	1	605	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SLC22A14_ENST00000448498.1_Missense_Mutation_p.E172K	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	172						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCTGATCAATGAGGTATGTCT	0.498000													36	158					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172831	5172831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:5172831G>A	ENST00000380367.1	-	2	1186	c.769C>T	c.(769-771)Ctt>Ttt	p.L257F	OR52A1_ENST00000328942.1_Missense_Mutation_p.L257F			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	257					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAAGGCAAGGAGGTAGAAC	0.428000													28	71					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65686869	65686869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:65686869G>A	ENST00000352385.2	-	9	1803	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	532	Fibronectin type-III 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGGGAGAGCTGGGGTGCTGCA	0.622000													68	86					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241813462	241813462	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:241813462C>T	ENST00000307503.3	+	6	1050	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	221					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CGCTCATCTCCTTCAGTGACA	0.652000													74	81					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835110	27835110	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:27835110C>T	ENST00000331442.3	-	1	249	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	66	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTAAGGCCTTCTTAAGGGCTG	0.587000													93	146					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3240668	3240668	+	Silent	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:3240668T>C	ENST00000252032.9	-	32	2947	c.2880A>G	c.(2878-2880)gaA>gaG	p.E960E	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	960										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCAATTTACCTTCATACCTTA	0.498000													21	61					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135764126	135764126	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:135764126C>T	ENST00000250617.6	-	14	2686	c.1479_splice	c.e14-1	p.G494_splice	ARHGEF6_ENST00000370622.1_Splice_Site_p.G340_splice|ARHGEF6_ENST00000370620.1_Splice_Site_p.G340_splice|ARHGEF6_ENST00000535227.1_Splice_Site_p.G367_splice	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	494	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGGTATTTTTCCCTATTAGAA	0.358000													22	28					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142487553	142487553	+	RNA	SNP	A	A	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:142487553A>G	ENST00000430863.1	-	0	1475					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GCGTGCACAGAGTGTCCTGGG	0.672000													15	76					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101594224	101594224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:101594224C>T	ENST00000375011.3	+	4	902	c.902C>T	c.(901-903)cCc>cTc	p.P301L		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	301						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				ATGCAATCCCCCGTCGATGTC	0.582000													26	4					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103309516	103309516	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:103309516T>A	ENST00000376052.3	+	25	3118	c.3102T>A	c.(3100-3102)ttT>ttA	p.F1034L	TPP2_ENST00000376065.4_Missense_Mutation_p.F1021L|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1021					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAAGAGTTTACTGAAGCAT	0.289000													29	47					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351246	36351246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:36351246G>A	ENST00000360202.5	+	6	919	c.721G>A	c.(721-723)Gga>Aga	p.G241R	KIRREL2_ENST00000586102.2_Missense_Mutation_p.G221R|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G241R|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G191R|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G241R|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	241	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane		p.G241R(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTGCAGGAGGGAGAGAAGGT	0.607000													51	89					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128819638	128819638	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:128819638T>C	ENST00000270861.5	+	16	3129	c.2855T>C	c.(2854-2856)tTa>tCa	p.L952S	PLK4_ENST00000513090.1_Missense_Mutation_p.L920S|PLK4_ENST00000507249.1_Missense_Mutation_p.L891S|PLK4_ENST00000514379.1_Missense_Mutation_p.L911S|PLK4_ENST00000515069.1_Missense_Mutation_p.L874S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	952	POLO box.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAACAGAAATTACAGTGTCTG	0.294000													3	130					0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125448076	125448076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:125448076C>T	ENST00000278903.6	+	6	606	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	EI24_ENST00000343678.4_Missense_Mutation_p.L122F|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	122					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GGAATTCTTCCTCACGTCAAT	0.458000													80	88					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616440	248616440	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248616440C>T	ENST00000342927.3	+	1	364	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			GGGAATTCTTCCTGCTGGGTC	0.542000													33	134					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102839334	102839334	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:102839334C>T	ENST00000504592.1	+	11	1567	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	BANK1_ENST00000508653.1_Silent_p.F265F|BANK1_ENST00000428908.1_Silent_p.F265F|BANK1_ENST00000322953.4_Silent_p.F398F|BANK1_ENST00000444316.2_Silent_p.F368F			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	398			A -> T (influences susceptibility to SLE; dbSNP:rs3733197).		B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGAAAATCTTCGAAGACTTTT	0.353000													17	17					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90170219	90170219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:90170219G>T	ENST00000268138.7	+	22	5740	c.5635G>T	c.(5635-5637)Gaa>Taa	p.E1879*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.E1878*|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		CTCCACTGTAGAAGACTCTCC	0.493000													227	256					1.01307e-103	1.05023e-103	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54314540	54314540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:54314540G>A	ENST00000324134.6	-	3	541	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	NLRP12_ENST00000391775.3_Missense_Mutation_p.P125S|NLRP12_ENST00000354278.3_Missense_Mutation_p.P125S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P125S|NLRP12_ENST00000351894.4_Missense_Mutation_p.P125S|NLRP12_ENST00000345770.5_Missense_Mutation_p.P125S|NLRP12_ENST00000391772.1_Missense_Mutation_p.P125S|NLRP12_ENST00000535162.1_Missense_Mutation_p.P125S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	125					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTTCCTGGGGATCTAGGGGA	0.532000													103	133					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104648	5104648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:5104648C>T	ENST00000396912.1	+	5	2080	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.L521F	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	521	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAAACCTTCCTTGTAAATTC	0.393000													55	39					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5757934	5757934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:5757934C>T	ENST00000317121.3	+	1	254	c.188C>T	c.(187-189)tCt>tTt	p.S63F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CAGAACCCTTCTTTACAGCAG	0.498000													23	35					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245848919	245848919	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:245848919G>A	ENST00000366518.4	+	9	1595	c.1491G>A	c.(1489-1491)aaG>aaA	p.K497K	KIF26B_ENST00000407071.2_Silent_p.K878K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	878	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTCTGACAAGGAGCTCACCG	0.667000													25	26					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211675	50211675	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:50211675G>A	ENST00000002829.3	+	5	832	c.348G>A	c.(346-348)ggG>ggA	p.G116G	SEMA3F_ENST00000413852.1_Silent_p.G48G|SEMA3F_ENST00000434342.1_Silent_p.G116G	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	116	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCGAGTGTGGGAACTTCGTCA	0.637000													61	77					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607648	55607648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:55607648G>A	ENST00000263433.3	-	7	1022	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.S262F|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.S336F	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	336						cytoplasm		p.S336Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTTGCTGCTAGAGGGCGCTTG	0.652000													139	189					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803747	137803747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:137803747C>T	ENST00000239938.4	+	2	1881	c.1609C>T	c.(1609-1611)Ccc>Tcc	p.P537S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	537					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AACCTTTTCTCCCAGGACAAT	0.512000													80	14					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631714	116631714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:116631714G>A	ENST00000395715.3	-	3	1188	c.611C>T	c.(610-612)tCa>tTa	p.S204L	TRPS1_ENST00000520276.1_Missense_Mutation_p.S195L|TRPS1_ENST00000519076.1_Missense_Mutation_p.S145L|TRPS1_ENST00000519674.1_Missense_Mutation_p.S191L|TRPS1_ENST00000220888.5_Missense_Mutation_p.S191L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	191					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACCCCCATCTGAAGGCACTTG	0.488000									Langer-Giedion syndrome				24	80					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819536	20819536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:20819536G>A	ENST00000328879.4	-	4	877	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	KLHL22_ENST00000440659.2_Missense_Mutation_p.L98F	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	241					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)			ACTGTCTCAAGGAGCTTTGGG	0.612000													22	34					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81582746	81582746	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:81582746G>A	ENST00000327835.3	-	5	882	c.651C>T	c.(649-651)atC>atT	p.I217I	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	217						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ACCCCAGATGGATGGTTCGGA	0.512000													82	61					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154185346	154185346	+	Silent	SNP	C	C	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:154185346C>G	ENST00000360256.4	-	11	1838	c.1638G>C	c.(1636-1638)cgG>cgC	p.R546R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	546	F5/8 type A 2.|Plastocyanin-like 3.		R -> W (in HEMA; mild; dbSNP:rs28937277).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGTCAGGCACCGAGGATCTG	0.413000													98	12					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046488	17046488	+	RNA	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:17046488G>A	ENST00000492551.1	-	0	164					NR_026567.1																						GAAGCCTCAGGGAGGGGAAGT	0.617000													20	97					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73406971	73406971	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:73406971C>T	ENST00000555042.1	+	4	302	c.237C>T	c.(235-237)ttC>ttT	p.F79F	DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000358377.2_Silent_p.F79F|DCAF4_ENST00000509153.1_Silent_p.F79F|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000353777.3_Silent_p.F79F|DCAF4_ENST00000553457.1_5'UTR	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	79						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AACGCTACTTCCGCTTGCTCC	0.483000													101	71					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9043098	9043098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:9043098C>T	ENST00000382496.5	-	23	3801	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1046					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTGTTTCTTTCCTCTAGGATC	0.318000													20	16					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745679	33745679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:33745679C>T	ENST00000403687.3	+	6	1036	c.296C>T	c.(295-297)aCt>aTt	p.T99I	RASGRP3_ENST00000402538.3_Missense_Mutation_p.T99I|RASGRP3_ENST00000407811.1_Missense_Mutation_p.T99I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	99	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATTCGTATGACTGAGGAATTT	0.423000													117	141					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373853	138373853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:138373853G>A	ENST00000409968.1	+	18	3710	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E1181K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1150K|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCCTGAATGAAAATTGCTT	0.453000													74	108					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785286	12785286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:12785286G>A	ENST00000332530.3	+	3	392	c.166G>A	c.(166-168)Gat>Aat	p.D56N	AADACL3_ENST00000359318.5_Missense_Mutation_p.D126N	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	126							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATATGGAGTGGATCCAGCCCG	0.547000													28	100					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1371150	1371150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:1371150G>A	ENST00000359786.5	-	29	3275	c.2951C>T	c.(2950-2952)gCg>gTg	p.A984V	MYO1C_ENST00000438665.2_Missense_Mutation_p.A965V|MYO1C_ENST00000361007.2_Missense_Mutation_p.A949V|MYO1C_ENST00000575158.1_Missense_Mutation_p.A949V|MYO1C_ENST00000545534.2_Missense_Mutation_p.A960V	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	984					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTATTGTCCGCACGCTGTAC	0.582000													3	67					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11606375	11606375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:11606375G>A	ENST00000273038.3	-	4	738	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	VGLL4_ENST00000424529.2_Missense_Mutation_p.P41S|VGLL4_ENST00000430365.2_Missense_Mutation_p.P131S|VGLL4_ENST00000413604.1_Missense_Mutation_p.P66S|VGLL4_ENST00000451674.2_Missense_Mutation_p.P45S|VGLL4_ENST00000404339.1_Missense_Mutation_p.P130S	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CCAAGGCTGGGGAGGGAGGTG	0.721000													38	47					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826539	23826539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:23826539C>T	ENST00000354639.3	+	20	2878	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L	STK31_ENST00000433467.2_Missense_Mutation_p.S828L|STK31_ENST00000428484.1_Missense_Mutation_p.S805L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.S828L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	828	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTTTAAATTCAGAAGTAAGT	0.353000													39	46					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215674232	215674232	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:215674232C>A	ENST00000260947.4	-	1	196	c.62G>T	c.(61-63)cGt>cTt	p.R21L	BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	21					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGCGCGGAACGAGGCTCGTT	0.692000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	12					0.000308642	0.000310182	1	1	0
GPR87	53836	broad.mit.edu	37	3	151012161	151012161	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:151012161G>A	ENST00000260843.4	-	3	1337	c.873C>T	c.(871-873)atC>atT	p.I291I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	291						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTAATATAGGATTTTTTGTG	0.348000													25	53					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206230980	206230980	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:206230980C>T	ENST00000367126.4	+	2	1578	c.1113C>T	c.(1111-1113)agC>agT	p.S371S		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	371					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGACGGCAGCCTCTCGAGCC	0.701000													5	3					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62021184	62021184	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:62021184C>T	ENST00000435607.1	-	22	4015	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T	SCN4A_ENST00000578147.1_Silent_p.T1313T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTGTTCCTCCGTCATAAAGA	0.552000													20	53					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75548578	75548578	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:75548578T>C	ENST00000604729.1	+	2	656	c.359T>C	c.(358-360)aTt>aCt	p.I120T	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.I120T|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.I120T|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.I120T|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.I120T					zinc finger, SWIM-type containing 8																		GAAGAGGACATTCGGTGAGGC	0.507000													12	31					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53245583	53245583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:53245583G>A	ENST00000294353.6	+	4	1155	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	ZYG11B_ENST00000545132.1_Missense_Mutation_p.R337Q|ZYG11B_ENST00000443756.2_Missense_Mutation_p.R337Q	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	337							protein binding	p.R337L(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TACAGTGAACGGGCATTCTTT	0.388000													78	49					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725283	158725283	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:158725283G>A	ENST00000368144.2	+	1	774	c.678G>A	c.(676-678)gtG>gtA	p.V226V		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGTCATTGTGGATGCCATCC	0.483000													31	48					0	0	1	0	0
PTGR2	145482	broad.mit.edu	37	14	74345864	74345864	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:74345864C>T	ENST00000555661.1	+	6	730	c.585C>T	c.(583-585)ctC>ctT	p.L195L	PTGR2_ENST00000555228.1_Silent_p.L195L|RP5-1021I20.4_ENST00000553813.1_Silent_p.L61L|PTGR2_ENST00000554885.1_Silent_p.L146L|PTGR2_ENST00000267568.4_Silent_p.L195L			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	195					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						AATGCATCCTCTTGACCTCAG	0.413000													88	52					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161916	239161916	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:239161916C>T	ENST00000254657.3	-	19	3027	c.2748G>A	c.(2746-2748)ggG>ggA	p.G916G	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	916	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTTTGGGGTCCCCGAGGGGA	0.617000													81	100					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38937408	38937408	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:38937408G>A	ENST00000355481.4	+	9	931	c.800_splice	c.e9+1	p.S267_splice	RYR1_ENST00000360985.3_Splice_Site_p.S267_splice|RYR1_ENST00000359596.3_Splice_Site_p.S267_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	267					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAGAATCAGGTAGGGCGGG	0.577000													27	100					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471315	121471315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:121471315C>T	ENST00000257570.5	-	2	700	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	OASL_ENST00000339275.5_Missense_Mutation_p.G144R	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	144					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCGCAGTCCCCCTGGTCTGG	0.627000													18	83					0	0	1	0	0
MAFG	4097	broad.mit.edu	37	17	79880485	79880485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:79880485G>A	ENST00000357736.4	-	3	700	c.485C>T	c.(484-486)tCg>tTg	p.S162L	MAFG_ENST00000392366.3_Missense_Mutation_p.S162L	NM_002359.3|NM_032711.3	NP_002350.1|NP_116100.2	O15525	MAFG_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G	162					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCGTCCCTACGATCGGGCATC	0.652000													17	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091429	9091429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9091429G>A	ENST00000397910.4	-	1	589	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	129	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGGTCCTTGGGGAACTCAA	0.502000													45	80					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138644168	138644168	+	Missense_Mutation	SNP	G	G	A	rs137852267		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:138644168G>A	ENST00000218099.2	+	8	1331	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	F9_ENST00000394090.2_Missense_Mutation_p.G404R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	442	Peptidase S1.		G -> E (in HEMB).|G -> R (in HEMB; severe; Angers).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGGCAAATATGGAATATATAC	0.398000													44	6					0	0	1	0	0
LURAP1	541468	broad.mit.edu	37	1	46685580	46685580	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:46685580C>T	ENST00000371980.3	+	2	501	c.408C>T	c.(406-408)acC>acT	p.T136T	POMGNT1_ENST00000396420.3_5'UTR|POMGNT1_ENST00000371992.1_5'UTR	NM_001013615.2	NP_001013633.1	Q96LR2	CA190_HUMAN	leucine rich adaptor protein 1	136					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm											CCAGCACCACCGACCGGCTGG	0.642000													22	86					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154088746	154088746	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:154088746G>A	ENST00000360256.4	-	25	7061	c.6861C>T	c.(6859-6861)ggC>ggT	p.G2287G	F8_ENST00000330287.6_Silent_p.G152G	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2287	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACTGATGGCCATCTTGAC	0.418000													81	8					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181922	81181922	+	RNA	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:81181922C>T	ENST00000525539.1	-	0	4793				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGAGCTCTCCAGGCCAATCA	0.557000													71	12					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69455944	69455944	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:69455944G>A	ENST00000374521.3	+	3	251	c.210G>A	c.(208-210)agG>agA	p.R70R	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	70					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCTGGGTAAGGAACTGGTGTG	0.517000													38	5					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168066367	168066367	+	Silent	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:168066367G>A	ENST00000367838.1	-	5	791	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	GPR161_ENST00000367835.1_Silent_p.L160L|GPR161_ENST00000367836.1_Silent_p.L28L|GPR161_ENST00000539777.1_Silent_p.L82L|GPR161_ENST00000546300.1_Silent_p.L46L|GPR161_ENST00000271357.5_Silent_p.L160L|GPR161_ENST00000361697.2_Silent_p.L160L|GPR161_ENST00000537209.1_Silent_p.L180L	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	160					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGGGGTGGCAGGCAGCCGATG	0.572000													41	87					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123055670	123055670	+	Silent	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:123055670C>T	ENST00000333479.7	+	24	2193	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	KNTC1_ENST00000450485.2_Silent_p.S635S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	672					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATTGGATTTCCTTGGTATGAT	0.378000													9	43					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915030	48915030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:48915030G>A	ENST00000294954.7	-	11	1927	c.1906C>T	c.(1906-1908)Ctt>Ttt	p.L636F	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.L574F|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.L609F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	636					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTCAGCAAAAGAAAGAAATCT	0.373000													37	143					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10443985	10443985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:10443985C>T	ENST00000245503.5	-	11	1318	c.934G>A	c.(934-936)Gat>Aat	p.D312N	MYH2_ENST00000532183.1_Missense_Mutation_p.D312N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D312N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	312	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATGGGTAATCATATGGGTTC	0.373000													38	34					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725279	38725279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:38725279C>T	ENST00000409072.3	-	2	1261	c.327G>A	c.(325-327)atG>atA	p.M109I						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						TGAAGTGGTTCATCCTGTGGT	0.522000													69	181					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74963888	74963888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:74963888G>A	ENST00000315127.4	-	3	573	c.392C>T	c.(391-393)tCc>tTc	p.S131F	EDC3_ENST00000568176.1_Missense_Mutation_p.S131F|EDC3_ENST00000426797.3_Missense_Mutation_p.S131F	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	131					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTGCTGCGGGGAAACGGCAAC	0.517000													79	98					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940221	144940221	+	Silent	SNP	G	G	A	rs71520550		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:144940221G>A	ENST00000525985.1	-	2	7272	c.7201C>T	c.(7201-7203)Ctg>Ttg	p.L2401L				P58107	EPIPL_HUMAN	epiplakin 1	2401						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCTCTGCAGAAGCTGCAGG	0.592000													38	117					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377887	113377887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:113377887G>A	ENST00000316407.4	-	7	3052	c.2642C>T	c.(2641-2643)tCg>tTg	p.S881L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.S881L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	881	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTTAGATTTCGATACAGACTC	0.428000													38	99					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55168105	55168105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:55168105G>A	ENST00000396834.1	+	6	719	c.223G>A	c.(223-225)Gga>Aga	p.G75R	IL31RA_ENST00000396836.2_Missense_Mutation_p.G94R|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000447346.2_Missense_Mutation_p.G94R|IL31RA_ENST00000359040.5_Missense_Mutation_p.G94R|IL31RA_ENST00000354961.4_Missense_Mutation_p.G75R	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	62	Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AAGCGCTTTTGGAGAAAAACA	0.308000													11	19					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6648404	6648405	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:6648404_6648405delAG	ENST00000377674.4	+	9	1741_1742	c.1583_1584delAG	c.(1582-1584)cfs	p.Q528fs		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	528						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TTCTGTGAACAGCGCTTCACTG	0.629													34	51	---	---	---	---					
CLCN6	1185	broad.mit.edu	37	1	11889301	11889302	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:11889301_11889302delTG	ENST00000346436.6	+	13	1222_1223	c.1170_1171delTG	c.(1168-1173)tttgfs	p.FV390fs	CLCN6_ENST00000376487.3_Frame_Shift_Del_p.FV368fs|CLCN6_ENST00000312413.6_Frame_Shift_Del_p.C335fs|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Frame_Shift_Del_p.FV390fs	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	390					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGTGTTTGTGGCCTCGAT	0.525													89	219	---	---	---	---					
KLHDC7A	127707	broad.mit.edu	37	1	18809692	18809693	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:18809692_18809693delCT	ENST00000400664.1	+	1	2269_2270	c.2217_2218delCT	c.(2215-2220)gactfs	p.DS739fs		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	739						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTAGCAGACTCTGTCTCACC	0.658													12	261	---	---	---	---					
HNRNPR	10236	broad.mit.edu	37	1	23665029	23665030	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:23665029_23665030delAG	ENST00000374612.1	-	3	352_353	c.229_230delCT	c.(229-231)gfs	p.L77fs	HNRNPR_ENST00000374616.3_Frame_Shift_Del_p.L77fs|HNRNPR_ENST00000427764.2_Frame_Shift_Del_p.L77fs|HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000302271.6_Frame_Shift_Del_p.L77fs|HNRNPR_ENST00000478691.1_5'UTR	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	77	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TAGTACAGACAGAGCTCCTTCT	0.351													11	241	---	---	---	---					
KIAA0319L	79932	broad.mit.edu	37	1	35972235	35972236	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:35972235_35972236delAG	ENST00000325722.3	-	3	877_878	c.643_644delCT	c.(643-645)gfs	p.L215fs		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	215						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTGGTAGTCAGACCACCTAAT	0.421													62	261	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43916008	43916009	+	Splice_Site	DEL	TC	TC	-	rs139371901		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:43916008_43916009delTC	ENST00000562955.1	+	71	9985_9986	c.9984_splice	c.e71-1	p.S3329_splice	SZT2_ENST00000372442.1_Splice_Site_p.S2487_splice	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3386						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCCCCACAGTCTCTGACAGTG	0.634													8	478	---	---	---	---					
LINC01359	101927084	broad.mit.edu	37	1	65451008	65451009	+	RNA	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:65451008_65451009delCA	ENST00000447748.1	-	0	1775																											AGAGCTCCAGCACAGTGACTTG	0.485													15	52	---	---	---	---					
DNTTIP2	30836	broad.mit.edu	37	1	94342789	94342790	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:94342789_94342790delCA	ENST00000436063.2	-	2	758_759	c.701_702delTG	c.(700-702)gfs	p.V234fs	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CCTCTGAATTCACAGGTGTACC	0.361													60	288	---	---	---	---					
CLCC1	23155	broad.mit.edu	37	1	109479818	109479819	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:109479818_109479819delTC	ENST00000369971.2	-	10	1392_1393	c.1263_1264delGA	c.(1261-1266)gattfs	p.EI421fs	CLCC1_ENST00000302500.4_Frame_Shift_Del_p.EI300fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.EI371fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.EI371fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.EI300fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.EI421fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.EI236fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.EI236fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	421						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TCTCTCAAAATCTCTCTTCTAC	0.515													18	148	---	---	---	---					
ABL2	27	broad.mit.edu	37	1	179095686	179095687	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:179095686_179095687delGT	ENST00000502732.1	-	4	715_716	c.512_513delAC	c.(511-513)cfs	p.H171fs	ABL2_ENST00000408940.3_Frame_Shift_Del_p.H135fs|ABL2_ENST00000511413.1_Frame_Shift_Del_p.H171fs|ABL2_ENST00000367623.4_Frame_Shift_Del_p.H150fs|ABL2_ENST00000344730.3_Frame_Shift_Del_p.H156fs|ABL2_ENST00000512653.1_Frame_Shift_Del_p.H156fs|ABL2_ENST00000392043.3_Frame_Shift_Del_p.H150fs|ABL2_ENST00000504405.1_Frame_Shift_Del_p.H135fs|ABL2_ENST00000507173.1_Frame_Shift_Del_p.H150fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	171					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTACCAGGAGTGTTTTTCCAG	0.530			T	ETV6	AML								81	169	---	---	---	---					
CNIH3	149111	broad.mit.edu	37	1	224804897	224804897	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:224804897delG	ENST00000272133.3	+	1	903	c.21delG	c.(19-21)gcfs	p.A7fs		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	7					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTTTCGCTGCGTTCTGCTACA	0.597													379	745	---	---	---	---					
NTPCR	84284	broad.mit.edu	37	1	233105685	233105686	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:233105685_233105686delGT	ENST00000366627.4	+	4	396_397	c.325_326delGT	c.(325-327)gfs	p.V109fs	NTPCR_ENST00000366628.4_Frame_Shift_Del_p.V109fs|NTPCR_ENST00000490098.1_3'UTR			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	109							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						AGGGCAAAGAGTGTGCGTCATC	0.520													62	117	---	---	---	---					
ITSN2	50618	broad.mit.edu	37	2	24469741	24469742	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:24469741_24469742delTC	ENST00000355123.4	-	28	3752_3753	c.3309_3310delGA	c.(3307-3312)caaafs	p.QK1103fs	ITSN2_ENST00000406921.3_Frame_Shift_Del_p.QK1103fs|ITSN2_ENST00000361999.3_Frame_Shift_Del_p.QK1076fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1103	SH3 4.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.K1103Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCATCCTTTCTGTCGCTTTT	0.347													17	84	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													8	424	---	---	---	---					
EIF2AK2	5610	broad.mit.edu	37	2	37334636	37334637	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:37334636_37334637delTC	ENST00000233057.4	-	16	1835_1836	c.1513_1514delGA	c.(1513-1515)tfs	p.D505fs	EIF2AK2_ENST00000395127.2_Frame_Shift_Del_p.D505fs|EIF2AK2_ENST00000405334.1_Frame_Shift_Del_p.D464fs	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	505	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				ATCAAATATATCTGAGATGATG	0.302													41	82	---	---	---	---					
SMYD5	10322	broad.mit.edu	37	2	73452993	73452994	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:73452993_73452994delAG	ENST00000389501.4	+	13	1221_1222	c.1176_1177delAG	c.(1174-1179)tcaafs	p.SE392fs		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	392	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ATGTGACCTCAgaagaggaaga	0.545													40	208	---	---	---	---					
MITD1	129531	broad.mit.edu	37	2	99790457	99790458	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:99790457_99790458delTC	ENST00000289359.2	-	2	249_250	c.173_174delGA	c.(172-174)afs	p.R58fs	MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'UTR	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	58	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						TGAGATTACATCTCTTAGTATT	0.272													7	47	---	---	---	---					
ITGB6	3694	broad.mit.edu	37	2	160994167	160994168	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:160994167_160994168delCA	ENST00000283249.2	-	10	1674_1675	c.1437_1438delTG	c.(1435-1440)tgccfs	p.CA479fs	ITGB6_ENST00000428609.2_Frame_Shift_Del_p.CA437fs|ITGB6_ENST00000409967.2_Frame_Shift_Del_p.CA479fs|ITGB6_ENST00000409872.1_Frame_Shift_Del_p.CA479fs			P18564	ITB6_HUMAN	integrin, beta 6	479	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GGGTGGCAGGCACACACCCCAC	0.584													13	95	---	---	---	---					
CASP8	841	broad.mit.edu	37	2	202137381	202137382	+	Frame_Shift_Del	DEL	AG	AG	-	rs149933993	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:202137381_202137382delAG	ENST00000358485.4	+	4	805_806	c.609_610delAG	c.(607-612)atagfs	p.IE203fs	CASP8_ENST00000323492.7_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.IE176fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	144					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATATTTTCATAGAGATGGAGAA	0.396										HNSCC(4;0.00038)			37	224	---	---	---	---					
INO80D	54891	broad.mit.edu	37	2	206911290	206911291	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:206911290_206911291delCT	ENST00000403263.1	-	5	1414_1415	c.1010_1011delAG	c.(1009-1011)gfs	p.E337fs		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	337					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GCGAGGCCTGCTCTGAGTCCTC	0.421													9	226	---	---	---	---					
ZNF142	7701	broad.mit.edu	37	2	219507187	219507189	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:219507187_219507189delTGC	ENST00000411696.2	-	7	4829_4831	c.4050_4052delGCA	c.(4048-4053)cac>ca	p.QH1350del	ZNF142_ENST00000449707.1_In_Frame_Del_p.QH1350del			P52746	ZN142_HUMAN	zinc finger protein 142	1350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGCCGTGGGTGCTGTTTACGGG	0.650													30	77	---	---	---	---					
ACSL3	2181	broad.mit.edu	37	2	223782822	223782823	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:223782822_223782823delAG	ENST00000357430.3	+	6	1146_1147	c.615_616delAG	c.(613-618)acagfs	p.TE205fs	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Frame_Shift_Del_p.TE205fs	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	205					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TAAATGAAACAGAGGTGACCAA	0.351			T	ETV1	prostate								10	267	---	---	---	---					
DNER	92737	broad.mit.edu	37	2	230411682	230411683	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:230411682_230411683insA	ENST00000341772.4	-	5	1107_1108	c.973_974insT	c.(973-975)cacfs	p.H325fs		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	325	EGF-like 3.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTTCGTGGTGCATTTTCCTTTT	0.446													74	292	---	---	---	---					
SP100	6672	broad.mit.edu	37	2	231314322	231314323	+	Frame_Shift_Del	DEL	AG	AG	-	rs140509980		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:231314322_231314323delAG	ENST00000264052.5	+	7	988_989	c.633_634delAG	c.(631-636)acaafs	p.TE211fs	SP100_ENST00000340126.4_Frame_Shift_Del_p.TE211fs|SP100_ENST00000341950.4_Frame_Shift_Del_p.TE211fs|SP100_ENST00000409112.1_Frame_Shift_Del_p.TE211fs|SP100_ENST00000409897.1_Frame_Shift_Del_p.TE176fs|SP100_ENST00000409341.1_Frame_Shift_Del_p.TE211fs|SP100_ENST00000427101.2_Frame_Shift_Del_p.TE186fs|SP100_ENST00000409824.1_Frame_Shift_Del_p.TE186fs	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	211					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTGTGAAACAGAACAGATAAA	0.431													15	98	---	---	---	---					
NCL	4691	broad.mit.edu	37	2	232326309	232326310	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:232326309_232326310delCT	ENST00000322723.4	-	3	794_795	c.554_555delAG	c.(553-555)gfs	p.E185fs		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	185	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		cgtcctcatcCTCTGAGGCAGG	0.505													7	50	---	---	---	---					
NR1D2	9975	broad.mit.edu	37	3	24003893	24003895	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:24003893_24003895delCAG	ENST00000312521.4	+	5	1262_1264	c.943_945delCAG	c.(943-945)del	p.Q316del	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	316					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TAGTGAGAGCCAGCAGCATCTCA	0.424													13	50	---	---	---	---					
TOP2B	7155	broad.mit.edu	37	3	25665051	25665052	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:25665051_25665052delCA	ENST00000435706.2	-	21	2867_2868	c.2666_2667delTG	c.(2665-2667)gfs	p.V889fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.V894fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	894					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGACATTGTTCACAATTTCCCT	0.361													22	107	---	---	---	---					
SLC4A7	9497	broad.mit.edu	37	3	27427459	27427460	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:27427459_27427460delTC	ENST00000295736.5	-	23	3458_3459	c.3388_3389delGA	c.(3388-3390)afs	p.E1130fs	SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.E1139fs|SLC4A7_ENST00000455077.1_Frame_Shift_Del_p.E1011fs|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.E1126fs|SLC4A7_ENST00000428386.1_Frame_Shift_Del_p.E1006fs|SLC4A7_ENST00000388777.4_Frame_Shift_Del_p.E680fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.E1126fs|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000437179.1_Frame_Shift_Del_p.E1011fs|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.E1122fs|SLC4A7_ENST00000435667.2_Frame_Shift_Del_p.E1015fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1130						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CCAACTAAGTTCTCTCTTCGTG	0.327													9	213	---	---	---	---					
GOLGA4	2803	broad.mit.edu	37	3	37365876	37365877	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:37365876_37365877delAG	ENST00000361924.2	+	14	2873_2874	c.2499_2500delAG	c.(2497-2502)acaafs	p.TE833fs	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Frame_Shift_Del_p.TE855fs	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	833	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTTGGAAACAGAAAGAATTCT	0.411													34	141	---	---	---	---					
ZNF197	10168	broad.mit.edu	37	3	44684240	44684241	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:44684240_44684241delTG	ENST00000396058.1	+	5	1785_1786	c.1618_1619delTG	c.(1618-1620)tfs	p.C540fs	ZNF197_ENST00000344387.4_Frame_Shift_Del_p.C540fs|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	540					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ACCCTATAAATGTGATGAATGT	0.406													80	186	---	---	---	---					
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)caa>ca	p.QQ439del	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562													7	175	---	---	---	---					
FAM212A	389119	broad.mit.edu	37	3	49842362	49842363	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49842362_49842363delCT	ENST00000333323.4	+	2	939_940	c.806_807delCT	c.(805-807)gfs	p.A269fs		NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN	family with sequence similarity 212, member A	267																	CGCTTTGCAGCTCTCATGAGCT	0.589													27	727	---	---	---	---					
CYB561D2	11068	broad.mit.edu	37	3	50391061	50391062	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:50391061_50391062delCT	ENST00000418577.1	+	3	1131_1132	c.555_556delCT	c.(553-558)gcctfs	p.AS185fs	CYB561D2_ENST00000232508.5_Frame_Shift_Del_p.AS185fs|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000424512.1_Frame_Shift_Del_p.AS185fs|CYB561D2_ENST00000425346.1_Frame_Shift_Del_p.AS185fs			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	185	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTTCACTGCCTCTGTCACTGG	0.554													30	779	---	---	---	---					
ACY1	95	broad.mit.edu	37	3	52021209	52021210	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:52021209_52021210delAG	ENST00000458031.2	+	12	1205_1206	c.974_975delAG	c.(973-975)cfs	p.Q325fs	ABHD14A-ACY1_ENST00000463937.1_Frame_Shift_Del_p.Q336fs|ACY1_ENST00000404366.2_Frame_Shift_Del_p.Q235fs|ACY1_ENST00000476351.1_Frame_Shift_Del_p.Q200fs|ACY1_ENST00000494103.1_Frame_Shift_Del_p.Q163fs|ACY1_ENST00000476854.1_Intron			Q03154	ACY1_HUMAN	aminoacylase 1	235					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	AAGGAATGGCAGAGGTGAGGCA	0.550													63	369	---	---	---	---					
TMF1	7110	broad.mit.edu	37	3	69079119	69079120	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:69079119_69079120delTC	ENST00000543976.1	-	11	2695_2696	c.2449_2450delGA	c.(2449-2451)afs	p.E817fs	CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.E814fs|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	814					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGCTGCACGTTCTCTCTCAACT	0.421													7	168	---	---	---	---					
C3orf38	285237	broad.mit.edu	37	3	88199298	88199299	+	Frame_Shift_Del	DEL	TG	TG	-	rs17852198	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:88199298_88199299delTG	ENST00000318887.3	+	1	406_407	c.96_97delTG	c.(94-99)actcfs	p.TV32fs	C3orf38_ENST00000486971.1_Frame_Shift_Del_p.TV32fs	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	32					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TATGCGACACTGTCACCAACCG	0.624													25	106	---	---	---	---					
QTRTD1	79691	broad.mit.edu	37	3	113798846	113798847	+	Frame_Shift_Del	DEL	AG	AG	-	rs149531874	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:113798846_113798847delAG	ENST00000281273.4	+	8	1097_1098	c.840_841delAG	c.(838-843)acagfs	p.TE280fs	QTRTD1_ENST00000493014.1_Frame_Shift_Del_p.TE174fs|QTRTD1_ENST00000485050.1_Frame_Shift_Del_p.TE292fs|QTRTD1_ENST00000479882.1_Frame_Shift_Del_p.TE157fs	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	280					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						ATCAAGTAACAGAGCGGGGATG	0.421													11	213	---	---	---	---					
PIGZ	80235	broad.mit.edu	37	3	196674137	196674138	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:196674137_196674138delAA	ENST00000412723.1	-	3	1776_1777	c.1630_1631delTT	c.(1630-1632)afs	p.L544fs		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	544					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATGGGGAAATAAAAGTGTTTCA	0.589													34	109	---	---	---	---					
INTU	27152	broad.mit.edu	37	4	128590269	128590270	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:128590269_128590270delTG	ENST00000335251.5	+	5	1154_1155	c.1051_1052delTG	c.(1051-1053)tfs	p.C351fs	INTU_ENST00000296461.5_Frame_Shift_Del_p.C351fs	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	351										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTCACACTCTGTGACATGCTG	0.327													18	71	---	---	---	---					
DNAJC21	134218	broad.mit.edu	37	5	34937626	34937627	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:34937626_34937627delAA	ENST00000382021.2	+	5	861_862	c.634_635delAA	c.(634-636)afs	p.K212fs	DNAJC21_ENST00000303525.7_Frame_Shift_Del_p.K212fs|DNAJC21_ENST00000342382.4_Frame_Shift_Del_p.K212fs	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	212					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTTCATTCGTAAAAGAGATAAA	0.455													11	154	---	---	---	---					
MAP3K1	4214	broad.mit.edu	37	5	56177863	56177864	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:56177863_56177864delAC	ENST00000399503.3	+	14	2836_2837	c.2836_2837delAC	c.(2836-2838)afs	p.T949fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	949	Poly-Thr.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		aacaacaacaacaacaacaaca	0.416													9	68	---	---	---	---					
TNPO1	3842	broad.mit.edu	37	5	72192962	72192964	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:72192962_72192964delGTT	ENST00000337273.5	+	20	2748_2750	c.2322_2324delGTT	c.(2320-2325)acg>ac	p.TL774del	TNPO1_ENST00000454282.1_In_Frame_Del_p.TL724del|TNPO1_ENST00000523768.1_In_Frame_Del_p.TL724del|TNPO1_ENST00000506351.2_In_Frame_Del_p.TL766del	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	774					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CACCAAAGACGTTGTTAGAGAAT	0.369													30	95	---	---	---	---					
TGFBI	7045	broad.mit.edu	37	5	135382971	135382972	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:135382971_135382972delTG	ENST00000442011.2	+	6	794_795	c.633_634delTG	c.(631-636)actgfs	p.TV211fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.TV211fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	211	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGATTGTAACTGTGAACTGTGC	0.525													13	43	---	---	---	---					
KDM3B	51780	broad.mit.edu	37	5	137715279	137715280	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:137715279_137715280delAC	ENST00000314358.5	+	5	787_788	c.587_588delAC	c.(586-588)tfs	p.Y196fs		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	196					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTAGGTCCCTACAGTGTTCAAG	0.406													18	64	---	---	---	---					
NR3C1	2908	broad.mit.edu	37	5	142780124	142780125	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:142780124_142780125delTC	ENST00000343796.2	-	2	1273_1274	c.280_281delGA	c.(280-282)afs	p.E94fs	NR3C1_ENST00000231509.3_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000394466.2_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000394464.2_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000503201.1_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000424646.2_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000415690.2_Frame_Shift_Del_p.E94fs	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	94	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CACTTTTGTTTCTGTCTCTCCC	0.460													10	198	---	---	---	---					
GPR151	134391	broad.mit.edu	37	5	145895587	145895588	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:145895587_145895588delAG	ENST00000311104.2	-	1	165_166	c.89_90delCT	c.(88-90)tfs	p.S30fs		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	30						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGGAATCAGAGGGCAGGTA	0.559													15	218	---	---	---	---					
NEDD9	4739	broad.mit.edu	37	6	11185769	11185771	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:11185769_11185771delAGA	ENST00000379446.5	-	7	2295_2297	c.2129_2131delTCT	c.(2128-2133)tac>t	p.FY710del	NEDD9_ENST00000504387.1_In_Frame_Del_p.FY710del|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	710	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGGTCATAGTAGAAGCACAGCAA	0.542													116	790	---	---	---	---					
TRIM27	5987	broad.mit.edu	37	6	28889744	28889744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:28889744delG	ENST00000377199.3	-	2	797	c.441delC	c.(439-441)ctfs	p.L147fs	TRIM27_ENST00000377194.3_Frame_Shift_Del_p.L147fs|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	147					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTAAATGGTCGAGCTGGTTCT	0.448			T	RET	papillary thyroid								79	109	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29634038	29634039	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:29634038_29634039delGA	ENST00000376894.4	+	3	664_665	c.546_547delGA	c.(544-549)ctgafs	p.LR182fs	MOG_ENST00000376917.3_Frame_Shift_Del_p.LR182fs|MOG_ENST00000396701.2_Frame_Shift_Del_p.LR182fs|MOG_ENST00000376891.4_Frame_Shift_Del_p.LR182fs|MOG_ENST00000490427.1_Frame_Shift_Del_p.LR66fs|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000494692.1_Frame_Shift_Del_p.LR182fs|MOG_ENST00000483013.1_Frame_Shift_Del_p.LR66fs|MOG_ENST00000416766.2_Intron|MOG_ENST00000396704.3_Frame_Shift_Del_p.LR182fs|MOG_ENST00000376888.2_Frame_Shift_Del_p.LR66fs|MOG_ENST00000376898.3_Frame_Shift_Del_p.LR182fs|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000431798.2_Frame_Shift_Del_p.LR182fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	182					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGTACAGACTGAGAGGTACAGG	0.540													40	255	---	---	---	---					
RXRB	6257	broad.mit.edu	37	6	33162541	33162542	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:33162541_33162542delAG	ENST00000374680.3	-	10	1730_1731	c.1519_1520delCT	c.(1519-1521)gfs	p.L507fs	RXRB_ENST00000374685.4_Frame_Shift_Del_p.L511fs|RXRB_ENST00000544186.1_Frame_Shift_Del_p.L321fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	507	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAAGAAAAACAGATGCTCTAGA	0.564													32	138	---	---	---	---					
LYRM2	57226	broad.mit.edu	37	6	90347572	90347574	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:90347572_90347574delGAG	ENST00000523377.1	-	2	109_111	c.73_75delCTC	c.(73-75)del	p.L25del	LYRM2_ENST00000520318.1_In_Frame_Del_p.L25del|LYRM2_ENST00000517396.1_5'UTR|LYRM2_ENST00000520441.1_In_Frame_Del_p.L25del	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	25										kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		TCCTTCTGTAGAGGAGAAGAACT	0.404													12	277	---	---	---	---					
AKAP12	9590	broad.mit.edu	37	6	151673453	151673454	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:151673453_151673454delAG	ENST00000402676.2	+	4	4167_4168	c.3927_3928delAG	c.(3925-3930)acaafs	p.TE1309fs	AKAP12_ENST00000354675.6_Frame_Shift_Del_p.TE1211fs|AKAP12_ENST00000253332.1_Frame_Shift_Del_p.TE1309fs|AKAP12_ENST00000359755.5_Frame_Shift_Del_p.TE1204fs	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1309					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTGAAGGGACAGAAGAAGCTGA	0.470													27	110	---	---	---	---					
POMZP3	22932	broad.mit.edu	37	7	76239534	76239535	+	Splice_Site	DEL	TG	TG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:76239534_76239535delTG	ENST00000310842.4	-	7	1260		c.e7-2		AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Splice_Site	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion											kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CTTCTGTCACTGTGAAAGGAGA	0.505													10	159	---	---	---	---					
CUX1	1523	broad.mit.edu	37	7	101845205	101845206	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:101845205_101845206delAG	ENST00000360264.3	+	18	2681_2682	c.2661_2662delAG	c.(2659-2664)tcagfs	p.SE887fs	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_Frame_Shift_Del_p.SE876fs|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Frame_Shift_Del_p.SE854fs|CUX1_ENST00000546411.2_Frame_Shift_Del_p.SE774fs|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Frame_Shift_Del_p.SE718fs|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Frame_Shift_Del_p.SE820fs	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	876					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTCGTCGTCAGAGTACTGGAA	0.673													12	181	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104752698	104752699	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:104752698_104752699delTT	ENST00000334877.4	+	26	4903_4904	c.4369_4370delTT	c.(4369-4371)tfs	p.F1457fs	KMT2E_ENST00000257745.4_Frame_Shift_Del_p.F1499fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.F1499fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.F554fs|SRPK2_ENST00000493638.1_Intron					lysine (K)-specific methyltransferase 2E																		TCAAAGAAACTTTTATCCAGCA	0.470													20	35	---	---	---	---					
KCP	375616	broad.mit.edu	37	7	128532910	128532910	+	RNA	DEL	C	C	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:128532910delC	ENST00000476647.2	-	0	1463							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region				central_nervous_system(1)|endometrium(3)	4						CCAGGATCAGCCCAGGCACTC	0.672													2	4	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209270	28209271	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:28209270_28209271delCT	ENST00000344423.5	-	7	1105_1106	c.974_975delAG	c.(973-975)gfs	p.E325fs	ZNF395_ENST00000523202.1_Frame_Shift_Del_p.E325fs|ZNF395_ENST00000523095.1_Frame_Shift_Del_p.E325fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	325					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TCAGCTGCACCTCTGTGTAGTA	0.619													12	441	---	---	---	---					
SHARPIN	81858	broad.mit.edu	37	8	145154268	145154269	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145154268_145154269delCA	ENST00000398712.2	-	6	1269_1270	c.833_834delTG	c.(832-834)gfs	p.V278fs		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	278	Interaction with SHANK1 (By similarity).|Ubiquitin-like.				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCGCTCAGGCACACACAGGCA	0.619													25	131	---	---	---	---					
FBXL6	26233	broad.mit.edu	37	8	145579332	145579333	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145579332_145579333delCA	ENST00000331890.5	-	9	1542_1543	c.1478_1479delTG	c.(1477-1479)gfs	p.V493fs	FBXL6_ENST00000455319.2_Frame_Shift_Del_p.V487fs|FBXL6_ENST00000526524.1_5'UTR	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	493					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTGCTGATCACAGAGCTGTG	0.653													12	43	---	---	---	---					
NFX1	4799	broad.mit.edu	37	9	33366735	33366736	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:33366735_33366736delAG	ENST00000379540.3	+	22	3210_3211	c.3148_3149delAG	c.(3148-3150)tfs	p.S1050fs	NFX1_ENST00000463421.1_3'UTR	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1050	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAGCTATGACAGTGAACCGAAG	0.545													23	49	---	---	---	---					
ACTL7B	10880	broad.mit.edu	37	9	111617184	111617185	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:111617184_111617185delCA	ENST00000374667.3	-	1	2054_2055	c.1026_1027delTG	c.(1024-1029)tggcfs	p.CG342fs		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	342						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTGCAGCCGCCACACAGTAGCA	0.693													39	79	---	---	---	---					
PPP6C	5537	broad.mit.edu	37	9	127933387	127933388	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:127933387_127933388delCT	ENST00000451402.1	-	3	478_479	c.258_259delAG	c.(256-261)actgfs	p.TV86fs	PPP6C_ENST00000373547.4_Frame_Shift_Del_p.TV49fs|PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000415905.1_Frame_Shift_Del_p.TV49fs	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	49					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCTCCACACACTGTTACTGGTG	0.371													9	282	---	---	---	---					
REXO4	57109	broad.mit.edu	37	9	136272149	136272151	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:136272149_136272151delCTT	ENST00000371942.3	-	8	1394_1396	c.1195_1197delAAG	c.(1195-1197)del	p.K399del	REXO4_ENST00000371935.2_In_Frame_Del_p.K227del	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	399						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	p.K399delK(1)		kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TCTCCCACTCCTTCTTCACCATG	0.621											OREG0019587	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	102	---	---	---	---					
NACC2	138151	broad.mit.edu	37	9	138903681	138903681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:138903681delT	ENST00000371753.1	-	5	1503	c.1445delA	c.(1444-1446)ggfs	p.E482fs	NACC2_ENST00000277554.2_Frame_Shift_Del_p.E482fs			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	482					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						AGGCGGGAACTCGGGGTCGAG	0.687													9	0	---	---	---	---					
TET1	80312	broad.mit.edu	37	10	70451223	70451224	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:70451223_70451224delGT	ENST00000373644.4	+	12	6272_6273	c.6063_6064delGT	c.(6061-6066)gagtfs	p.EC2021fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2021					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTTGATTGAGTGTGCCCGGCG	0.520													33	174	---	---	---	---					
AGAP11	119385	broad.mit.edu	37	10	88768817	88768819	+	RNA	DEL	GAA	GAA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:88768817_88768819delGAA	ENST00000444431.1	+	0	3417_3419				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACTGCTGAGGAAGAAGAAGAAA	0.493													24	96	---	---	---	---					
CALHM2	51063	broad.mit.edu	37	10	105209357	105209358	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:105209357_105209358delAG	ENST00000393235.1	-	3	1538_1539	c.341_342delCT	c.(340-342)cfs	p.P114fs	CALHM2_ENST00000260743.5_Frame_Shift_Del_p.P114fs|CALHM2_ENST00000369788.3_Frame_Shift_Del_p.P114fs			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	114						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ACCAGGTGACAGGGGCCACAGC	0.624													51	183	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129902322	129902323	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:129902322_129902323delTG	ENST00000368654.3	-	13	8156_8157	c.7781_7782delCA	c.(7780-7782)afs	p.T2594fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.T2234fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2594	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGCAGTGTCTGTTAGTTCTGG	0.485													42	120	---	---	---	---					
MUC5B	727897	broad.mit.edu	37	11	1254404	1254410	+	Frame_Shift_Del	DEL	GCGGGCG	GCGGGCG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:1254404_1254410delGCGGGCG	ENST00000447027.1	+	18	2294_2300	c.2236_2242delGCGGGCG	c.(2236-2244)ccfs	p.AGA746fs	MUC5B_ENST00000529681.1_Frame_Shift_Del_p.AGA743fs			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	743	TIL 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCAATGACGCGGGCGCCTGTGTGCC	0.700													16	23	---	---	---	---					
MADD	8567	broad.mit.edu	37	11	47307065	47307066	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:47307065_47307066delCT	ENST00000342922.4	+	14	2832_2833	c.2475_2476delCT	c.(2473-2478)gactfs	p.DS825fs	MADD_ENST00000349238.3_Frame_Shift_Del_p.DS825fs|MADD_ENST00000311027.5_Frame_Shift_Del_p.DS825fs|MADD_ENST00000406482.1_Frame_Shift_Del_p.DS782fs|MADD_ENST00000407859.3_Frame_Shift_Del_p.DS782fs|MADD_ENST00000402799.1_Frame_Shift_Del_p.DS782fs|MADD_ENST00000402192.2_Frame_Shift_Del_p.DS825fs|MADD_ENST00000395336.3_Frame_Shift_Del_p.DS825fs|MADD_ENST00000395344.3_Frame_Shift_Del_p.DS782fs	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	825					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGAGTCAGACTCTCGGGCAAG	0.574													217	284	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60698117	60698118	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:60698117_60698118delAG	ENST00000005286.4	+	5	1155_1156	c.1002_1003delAG	c.(1000-1005)acagfs	p.TE334fs	TMEM132A_ENST00000453848.2_Frame_Shift_Del_p.TE334fs	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	334						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGGGCTCACAGAGCCAGATTC	0.634													32	118	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61076533	61076534	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:61076533_61076534delCA	ENST00000301764.7	-	21	2979_2980	c.2582_2583delTG	c.(2581-2583)gfs	p.V861fs	DDB1_ENST00000450997.2_Frame_Shift_Del_p.V172fs	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	861	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTTTTCAGCCACAGTCTGTAG	0.480								Nucleotide excision repair (NER)					30	188	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62288507	62288508	+	Frame_Shift_Del	DEL	AT	AT	-	rs114666146		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62288507_62288508delAT	ENST00000378024.4	-	5	13655_13656	c.13381_13382delAT	c.(13381-13383)gfs	p.M4461fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4461					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAAGTCAGGCATAGAGATTTTG	0.450													12	379	---	---	---	---					
SF3B2	10992	broad.mit.edu	37	11	65822714	65822716	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:65822714_65822716delAGA	ENST00000528302.1	+	4	480_482	c.426_428delAGA	c.(424-429)tcg>tc	p.SE142del	SF3B2_ENST00000322535.6_In_Frame_Del_p.SE142del			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	142					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGGCACTGTCAGAGGAGGAGCGG	0.650													18	90	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70171677	70171678	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:70171677_70171678delAG	ENST00000253925.7	+	5	818_819	c.603_604delAG	c.(601-606)aaagfs	p.KE201fs	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.KE201fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	201					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCACACACAAAGAGGTAAGCTT	0.421													37	236	---	---	---	---					
INPPL1	3636	broad.mit.edu	37	11	71939239	71939240	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:71939239_71939240delAG	ENST00000298229.2	+	2	392_393	c.188_189delAG	c.(187-189)cfs	p.Q63fs	INPPL1_ENST00000541756.1_5'UTR|INPPL1_ENST00000538751.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	63	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATCAGGTATCAGAAGCATGTGC	0.579													46	244	---	---	---	---					
OR2AT4	341152	broad.mit.edu	37	11	74800209	74800210	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:74800209_74800210delAG	ENST00000305159.3	-	1	589_590	c.549_550delCT	c.(547-552)ttgtfs	p.FC183fs		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGATGATCACAGAAGCAGTGGT	0.584													15	76	---	---	---	---					
DISC1FP1	101929222	broad.mit.edu	37	11	90461664	90461665	+	RNA	INS	-	-	TGA	rs71058352	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:90461664_90461665insTGA	ENST00000562678.1	+	0	185																											aaattttgtggtggtggtggtg	0.391													6	3	---	---	---	---					
BIRC2	329	broad.mit.edu	37	11	102221293	102221294	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:102221293_102221294insA	ENST00000227758.2	+	2	2107_2108	c.708_709insA	c.(706-711)gctgtcfs	p.V237fs	BIRC2_ENST00000532672.1_Frame_Shift_Ins_p.V216fs|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Frame_Shift_Ins_p.V188fs	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	237					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGGATGATGCTATGTCAGAACA	0.441													56	211	---	---	---	---					
TTC12	54970	broad.mit.edu	37	11	113215119	113215120	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:113215119_113215120delGA	ENST00000393020.1	+	13	1516_1517	c.1111_1112delGA	c.(1111-1113)gfs	p.E371fs	TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Frame_Shift_Del_p.E371fs|TTC12_ENST00000483239.2_Frame_Shift_Del_p.E377fs|TTC12_ENST00000314756.3_Frame_Shift_Del_p.E371fs			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	371							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CGCCCAGACTGAGAGCGGACGG	0.589													54	303	---	---	---	---					
HYOU1	10525	broad.mit.edu	37	11	118919538	118919539	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:118919538_118919539delTC	ENST00000404233.3	-	18	2176_2177	c.2052_2053delGA	c.(2050-2055)gaagfs	p.EK684fs	HYOU1_ENST00000525859.1_Frame_Shift_Del_p.EK622fs|HYOU1_ENST00000529972.1_Frame_Shift_Del_p.EK622fs|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	684						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TTCTGCTTCTTCTCTCCCTCTG	0.609													29	96	---	---	---	---					
WNK1	65125	broad.mit.edu	37	12	1017101	1017102	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:1017101_1017102delCA	ENST00000537687.1	+	27	8155_8156	c.7512_7513delCA	c.(7510-7515)ggcafs	p.GT2504fs	WNK1_ENST00000530271.2_Frame_Shift_Del_p.GT2742fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.GT2244fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.GT1837fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.GT1996fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2244					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAGGAAGGGCACATTCACAGA	0.525													12	263	---	---	---	---					
DNAJC14	85406	broad.mit.edu	37	12	56221295	56221296	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:56221295_56221296delTC	ENST00000357606.3	-	3	1436_1437	c.1147_1148delGA	c.(1147-1149)tfs	p.D383fs	DNAJC14_ENST00000317269.3_Frame_Shift_Del_p.D383fs|DNAJC14_ENST00000317287.5_Frame_Shift_Del_p.D383fs|RP11-762I7.5_ENST00000546837.1_Frame_Shift_Del_p.R12fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	383					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TGGCCTGCTATCTCTCAGCAGA	0.550													57	119	---	---	---	---					
CNOT2	4848	broad.mit.edu	37	12	70732570	70732572	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:70732570_70732572delAAC	ENST00000551483.1	+	2	4254_4256	c.99_101delAAC	c.(97-102)tta>tt	p.LT33del	CNOT2_ENST00000418359.3_In_Frame_Del_p.LT382del|CNOT2_ENST00000229195.3_In_Frame_Del_p.LT382del			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	382					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAAGTGACTTAACAACATTAGGC	0.399													24	656	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101774928	101774929	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:101774928_101774929delTC	ENST00000261637.4	+	58	7769_7770	c.7595_7596delTC	c.(7594-7596)afs	p.I2532fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2532					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATGAAAAGTATCTCTCTCGCCT	0.366													8	137	---	---	---	---					
STX2	2054	broad.mit.edu	37	12	131291609	131291610	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:131291609_131291610delCA	ENST00000261653.6	-	6	546_547	c.380_381delTG	c.(379-381)gfs	p.V127fs	STX2_ENST00000392373.2_Frame_Shift_Del_p.V127fs	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	127					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CCATGGCTTCCACAAACTTCCG	0.510													31	130	---	---	---	---					
CKAP2	26586	broad.mit.edu	37	13	53048124	53048125	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:53048124_53048125delAA	ENST00000378037.5	+	8	1800_1801	c.1710_1711delAA	c.(1708-1713)acaafs	p.TK570fs	CKAP2_ENST00000258607.5_Frame_Shift_Del_p.TK569fs|CKAP2_ENST00000490903.1_Frame_Shift_Del_p.TK521fs	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	570					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ACAACAAAACAAAAGATCCAAC	0.347													15	56	---	---	---	---					
ADCY4	196883	broad.mit.edu	37	14	24803757	24803759	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24803757_24803759delCAG	ENST00000310677.4	-	2	213_215	c.100_102delCTG	c.(100-102)del	p.L34del	RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000418030.2_In_Frame_Del_p.L34del|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_In_Frame_Del_p.L34del	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	34					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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCACGATCCCCAGCAGCAGCAGC	0.700													5	11	---	---	---	---					
TMEM251	26175	broad.mit.edu	37	14	93652908	93652909	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:93652908_93652909delAG	ENST00000415050.2	+	2	777_778	c.402_403delAG	c.(400-405)actgfs	p.TV134fs	TMEM251_ENST00000283534.4_Frame_Shift_Del_p.TV96fs|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_001098621.1	NP_001092091.1			transmembrane protein 251																		ATCCCAAAACAGTGGGCTACTG	0.416													7	169	---	---	---	---					
CDCA4	55038	broad.mit.edu	37	14	105477801	105477802	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:105477801_105477802delCT	ENST00000336219.3	-	2	620_621	c.465_466delAG	c.(463-468)aggafs	p.RG155fs	CDCA4_ENST00000392590.3_Frame_Shift_Del_p.RG155fs	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	155						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGAAAGCTTCCTCTGTTTTCTC	0.535													24	52	---	---	---	---					
CYFIP1	23191	broad.mit.edu	37	15	22954351	22954353	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:22954351_22954353delAAG	ENST00000313077.7	+	14	1626_1628	c.1501_1503delAAG	c.(1501-1503)del	p.K504del	CYFIP1_ENST00000560848.1_In_Frame_Del_p.K504del	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	504					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGGCCATCAAGAAGAAGAAGA	0.596													9	261	---	---	---	---					
ARHGAP11A	9824	broad.mit.edu	37	15	32929647	32929648	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:32929647_32929648delCT	ENST00000361627.3	+	12	3395_3396	c.2673_2674delCT	c.(2671-2676)tcctfs	p.SS891fs	ARHGAP11A_ENST00000565905.1_Frame_Shift_Del_p.SS702fs|ARHGAP11A_ENST00000543522.1_Frame_Shift_Del_p.SS702fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	891					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CAAAAGATTCCTCTGTTTCATG	0.411													8	181	---	---	---	---					
SLC24A5	283652	broad.mit.edu	37	15	48414273	48414274	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:48414273_48414274delGT	ENST00000482911.2	+	2	382_383	c.341_342delGT	c.(340-342)afs	p.S114fs	SLC24A5_ENST00000341459.3_Intron|SLC24A5_ENST00000449382.2_Intron			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	0					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TTCTGGGAGAGTGTGCCACACA	0.480													33	112	---	---	---	---					
MEF2A	4205	broad.mit.edu	37	15	100252710	100252715	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-	rs72276751		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:100252710_100252715delCAGCAG	ENST00000354410.5	+	11	1863_1868	c.1234_1239delCAGCAG	c.(1234-1239)del	p.QQ420del	MEF2A_ENST00000453228.2_In_Frame_Del_p.QQ418del|MEF2A_ENST00000338042.6_In_Frame_Del_p.QQ427del|MEF2A_ENST00000557785.1_In_Frame_Del_p.QQ418del|MEF2A_ENST00000558812.1_In_Frame_Del_p.QQ358del|MEF2A_ENST00000557942.1_In_Frame_Del_p.QQ426del|MEF2A_ENST00000449277.2_In_Frame_Del_p.QQ350del	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	428	Gln/Pro-rich.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ATCGGGCTTCcagcagcagcagcagc	0.607													5	6	---	---	---	---					
TMC5	79838	broad.mit.edu	37	16	19498593	19498594	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:19498593_19498594delCT	ENST00000396229.2	+	17	3267_3268	c.2518_2519delCT	c.(2518-2520)cfs	p.L840fs	TMC5_ENST00000561503.1_Frame_Shift_Del_p.L481fs|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Frame_Shift_Del_p.L840fs|TMC5_ENST00000541464.1_Frame_Shift_Del_p.L788fs|TMC5_ENST00000381414.4_Frame_Shift_Del_p.L840fs|TMC5_ENST00000564959.1_Frame_Shift_Del_p.L523fs|TMC5_ENST00000219821.5_Frame_Shift_Del_p.L594fs	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	840						integral to membrane		p.L840H(1)|p.L594H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATCTTCTTGCTCTTTTTCCCA	0.545													24	39	---	---	---	---					
FHOD1	29109	broad.mit.edu	37	16	67272181	67272182	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:67272181_67272182delCA	ENST00000258201.4	-	5	717_718	c.470_471delTG	c.(469-471)gfs	p.V157fs	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	157	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTCTGAATGCACAAATTCAGG	0.599													35	65	---	---	---	---					
TMED6	146456	broad.mit.edu	37	16	69383480	69383481	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:69383480_69383481delTA	ENST00000288025.3	-	2	342_343	c.287_288delTA	c.(286-288)afs	p.I96fs	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Frame_Shift_Del_p.HR88fs	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	96	GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						GGGAGGTGTCTATGAGAAATCC	0.480													11	236	---	---	---	---					
AP1G1	164	broad.mit.edu	37	16	71807192	71807193	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:71807192_71807193delTC	ENST00000299980.4	-	4	840_841	c.399_400delGA	c.(397-402)gatgfs	p.EM133fs	AP1G1_ENST00000393512.3_Frame_Shift_Del_p.EM133fs|AP1G1_ENST00000423132.2_Frame_Shift_Del_p.EM133fs|AP1G1_ENST00000569748.1_Frame_Shift_Del_p.EM133fs|AP1G1_ENST00000433195.2_Frame_Shift_Del_p.EM156fs	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	133					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TCTCTGCACATCTCTGAGGAGC	0.436													25	64	---	---	---	---					
BECN1	8678	broad.mit.edu	37	17	40963729	40963730	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40963729_40963730delCA	ENST00000361523.4	-	11	1259_1260	c.1127_1128delTG	c.(1126-1128)gfs	p.V376fs	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Frame_Shift_Del_p.V376fs	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	376					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGAACTGCTGCACACAGTCCAG	0.480													11	278	---	---	---	---					
AOC2	314	broad.mit.edu	37	17	41002164	41002165	+	Frame_Shift_Del	DEL	AG	AG	-	rs62001928		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:41002164_41002165delAG	ENST00000253799.3	+	4	2097_2098	c.2070_2071delAG	c.(2068-2073)actgfs	p.TV690fs	AOC2_ENST00000452774.2_Frame_Shift_Del_p.TV663fs	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	690					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCCAAACACAGTGACTCTGGG	0.540													99	425	---	---	---	---					
EFTUD2	9343	broad.mit.edu	37	17	42928730	42928731	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:42928730_42928731delCT	ENST00000426333.2	-	28	3127_3128	c.2830_2831delAG	c.(2830-2832)tfs	p.S944fs	EFTUD2_ENST00000402521.3_Frame_Shift_Del_p.S909fs|EFTUD2_ENST00000591382.1_Frame_Shift_Del_p.S944fs|EFTUD2_ENST00000592576.1_Frame_Shift_Del_p.S934fs	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	944						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CACATCTTCACTGAGGCCCTGC	0.505													30	236	---	---	---	---					
CTD-2377D24.8	0	broad.mit.edu	37	17	46777563	46777565	+	RNA	DEL	GAA	GAA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:46777563_46777565delGAA	ENST00000575202.1	+	0	51																											AAGGGATGGGGAAGAAGAAGAAG	0.562													2	4	---	---	---	---					
BRIP1	83990	broad.mit.edu	37	17	59761289	59761290	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:59761289_59761290delTC	ENST00000259008.2	-	20	3384_3385	c.3117_3118delGA	c.(3115-3120)gaagfs	p.EK1039fs		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1039	Interaction with BRCA1.				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	p.E1039E(2)		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						CTTTCCATCTTCTCTGTTTTGA	0.416			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					78	339	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74036529	74036530	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:74036529_74036530delTC	ENST00000307877.2	-	15	1787_1788	c.1626_1627delGA	c.(1624-1629)gaccfs	p.ET542fs	SRP68_ENST00000355113.5_Frame_Shift_Del_p.ET441fs|SRP68_ENST00000602720.1_Frame_Shift_Del_p.ET203fs|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Frame_Shift_Del_p.ET504fs	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	542					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GAGGAGGAGGTCTCTGTTTGAT	0.416													27	164	---	---	---	---					
CACNA1A	773	broad.mit.edu	37	19	13363901	13363902	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:13363901_13363902delAG	ENST00000360228.5	-	30	4768_4769	c.4769_4770delCT	c.(4768-4770)tfs	p.S1590fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.S1591fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1591					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CATAAGCAACAGAAGCCCCATA	0.530													25	125	---	---	---	---					
EMR2	30817	broad.mit.edu	37	19	14866667	14866667	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:14866667delG	ENST00000315576.3	-	13	1666	c.1215delC	c.(1213-1215)gtfs	p.V405fs	EMR2_ENST00000594294.1_Frame_Shift_Del_p.V356fs|EMR2_ENST00000353876.1_Frame_Shift_Del_p.V312fs|EMR2_ENST00000346057.1_Frame_Shift_Del_p.V356fs|EMR2_ENST00000353005.1_Frame_Shift_Del_p.V263fs|EMR2_ENST00000392965.3_Frame_Shift_Del_p.V405fs|EMR2_ENST00000601345.1_Intron|EMR2_ENST00000596991.2_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000595839.1_Frame_Shift_Del_p.V263fs|EMR2_ENST00000392967.2_Intron|EMR2_ENST00000594076.1_Frame_Shift_Del_p.V312fs	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	405					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTGGAATGGAGACAAGGCCCA	0.587													25	37	---	---	---	---					
AKAP8L	26993	broad.mit.edu	37	19	15511842	15511843	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:15511842_15511843delTC	ENST00000397410.4	-	6	892_893	c.828_829delGA	c.(826-831)aaagfs	p.KK276fs	AKAP8L_ENST00000595465.1_Frame_Shift_Del_p.KK215fs|AKAP8L_ENST00000595136.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	276						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCTTTCTCTTCTTCTTCTTGG	0.604													15	49	---	---	---	---					
AP1M1	8907	broad.mit.edu	37	19	16318863	16318864	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16318863_16318864delGA	ENST00000291439.3	+	4	750_751	c.301_302delGA	c.(301-303)gfs	p.E101fs	AP1M1_ENST00000590756.1_Frame_Shift_Del_p.E29fs|AP1M1_ENST00000541844.1_Frame_Shift_Del_p.E29fs|AP1M1_ENST00000429941.2_Frame_Shift_Del_p.E101fs|AP1M1_ENST00000444449.2_Frame_Shift_Del_p.E101fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	101					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GCTGGAGGAGGAGAGCATCCGG	0.559													14	570	---	---	---	---					
ACTN4	81	broad.mit.edu	37	19	39214582	39214583	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:39214582_39214583delAG	ENST00000252699.2	+	14	1633_1634	c.1557_1558delAG	c.(1555-1560)acagfs	p.TE519fs	ACTN4_ENST00000390009.3_Frame_Shift_Del_p.TE300fs|ACTN4_ENST00000424234.2_Frame_Shift_Del_p.TE129fs	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	519					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTAGAAAACAGAGAAGCAGCT	0.629													16	104	---	---	---	---					
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcc>tc	p.SS371del	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.680													7	250	---	---	---	---					
CADM4	199731	broad.mit.edu	37	19	44130302	44130305	+	Frame_Shift_Del	DEL	TGCT	TGCT	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:44130302_44130305delTGCT	ENST00000222374.2	-	5	683_686	c.635_638delAGCA	c.(634-639)agfs	p.KQ212fs		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	212	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GTACTGCGTCTGCTTGCTGTGTCC	0.637													17	74	---	---	---	---					
ZNF224	7767	broad.mit.edu	37	19	44605024	44605025	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:44605024_44605025delAG	ENST00000336976.6	+	4	340_341	c.86_87delAG	c.(85-87)cfs	p.Q29fs		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	29	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GACCTTGCTCAGAGGAAGCTGT	0.535													9	443	---	---	---	---					
ZNF227	7770	broad.mit.edu	37	19	44739863	44739864	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:44739863_44739864delAG	ENST00000313040.7	+	6	1485_1486	c.1280_1281delAG	c.(1279-1281)cfs	p.Q427fs	ZNF227_ENST00000391961.2_Frame_Shift_Del_p.Q376fs|ZNF227_ENST00000589005.1_Frame_Shift_Del_p.Q376fs	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CACATCCATCAGAGAGTCCACA	0.495													37	143	---	---	---	---					
ZNF497	162968	broad.mit.edu	37	19	58868600	58868609	+	Frame_Shift_Del	DEL	GTACGGCTTC	GTACGGCTTC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:58868600_58868609delGTACGGCTTC	ENST00000311044.3	-	3	581_590	c.393_402delGAAGCCGTAC	c.(391-402)gafs	p.EKPY131fs	ZNF497_ENST00000425453.3_Frame_Shift_Del_p.EKPY131fs|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGGGGCACGTGTACGGCTTCTCGCCTGTGT	0.686													15	44	---	---	---	---					
ZMYND8	23613	broad.mit.edu	37	20	45850083	45850084	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:45850083_45850084delTC	ENST00000311275.7	-	20	3491_3492	c.3238_3239delGA	c.(3238-3240)afs	p.E1080fs	ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.E971fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.E1100fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.E1002fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.E1054fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.E1054fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.E1080fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.E1028fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.E1107fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.E1034fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.E1029fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.E1080fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.E948fs			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1080							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATTTAGTGTTTCTGTGTTCACC	0.515													16	59	---	---	---	---					
CLTCL1	8218	broad.mit.edu	37	22	19175500	19175502	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:19175500_19175502delTCC	ENST00000263200.10	-	28	4497_4499	c.4425_4427delGGA	c.(4423-4428)gac>ga	p.ED1475del	CLTCL1_ENST00000353891.5_In_Frame_Del_p.ED1475del|CLTCL1_ENST00000427926.1_In_Frame_Del_p.ED1475del|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1475	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CACCTGATAGTCCTCCTCCTCTG	0.591			T	?	ALCL								22	527	---	---	---	---					
